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|
||
class="search-input-link adv-search-link"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="adv_search">Advanced</a>
|
||
|
||
|
||
<a href="/clipboard/"
|
||
class="search-input-link clipboard-link hidden"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="clipboard">
|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28283832%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28283832%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="4STUIPYogGRlNtW061fpcNfAA5Ot3xZvlFDZlFrKQhEPHU2QJkSrGVLe89wFW8xP">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="4STUIPYogGRlNtW061fpcNfAA5Ot3xZvlFDZlFrKQhEPHU2QJkSrGVLe89wFW8xP">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="4STUIPYogGRlNtW061fpcNfAA5Ot3xZvlFDZlFrKQhEPHU2QJkSrGVLe89wFW8xP">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 28283832 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 28283832"/>
|
||
<input type="hidden" name="email-subject-hash" value="3a8af8e94e07fdc1590065a51dde6418279e37fbb4a6c663d6b80b300d4a837f"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="4STUIPYogGRlNtW061fpcNfAA5Ot3xZvlFDZlFrKQhEPHU2QJkSrGVLe89wFW8xP">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="4STUIPYogGRlNtW061fpcNfAA5Ot3xZvlFDZlFrKQhEPHU2QJkSrGVLe89wFW8xP">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="4STUIPYogGRlNtW061fpcNfAA5Ot3xZvlFDZlFrKQhEPHU2QJkSrGVLe89wFW8xP">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="4STUIPYogGRlNtW061fpcNfAA5Ot3xZvlFDZlFrKQhEPHU2QJkSrGVLe89wFW8xP">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="4STUIPYogGRlNtW061fpcNfAA5Ot3xZvlFDZlFrKQhEPHU2QJkSrGVLe89wFW8xP">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="28283832">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://dx.doi.org/10.1007/s00439-017-1772-0"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3055&itool=Abstract-def&log$=linkouticon&uid=28283832&db=pubmed&nlmid=7613873"
|
||
title="See full text options at Springer"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Springer"
|
||
data-ga-label="28283832"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--production.springer.de-OnlineResources-Logos-springerlink.gif" alt="Springer full text link"><span class="text">
|
||
|
||
Springer
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/28283832/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=28283832&db=pubmed&nlmid=7613873"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="28283832"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/28283832/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/28283832/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="28283832" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F28283832%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="4STUIPYogGRlNtW061fpcNfAA5Ot3xZvlFDZlFrKQhEPHU2QJkSrGVLe89wFW8xP"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
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|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Department of Genetics, Hôpital Robert Debré, Paris, France." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
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11
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
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12
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Chantot-Bastaraud+S&cauthor_id=28283832"
|
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data-ga-label="Sandra Chantot-Bastaraud">Sandra Chantot-Bastaraud</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Département de Génétique Médicale, Unité fonctionnelle de Génétique Chromosomique, CHU Paris Est, Hôpital d'Enfants Armand-Trousseau, 75571, Paris, France." href="#full-view-affiliation-13" ref="linksrc=author_aff">
|
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13
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Moutard+ML&cauthor_id=28283832"
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data-ga-label="Marie-Laure Moutard">Marie-Laure Moutard</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
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14
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
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15
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||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adolescent, Paris, France." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
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16
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Agrawal+PB&cauthor_id=28283832"
|
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ref="linksrc=author_name_link"
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||
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data-ga-label="Pankaj B Agrawal">Pankaj B Agrawal</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
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17
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=VanNoy+G&cauthor_id=28283832"
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data-ga-label="Grace VanNoy">Grace VanNoy</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Stoler+JM&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Joan M Stoler">Joan M Stoler</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Amor+DJ&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="David J Amor">David J Amor</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, 3052, Australia." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Billette+de+Villemeur+T&cauthor_id=28283832"
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ref="linksrc=author_name_link"
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data-ga-label="Thierry Billette de Villemeur">Thierry Billette de Villemeur</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence "déficiences intellectuelles de causes rares", Paris, France." href="#full-view-affiliation-20" ref="linksrc=author_aff">
|
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20
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Doummar+D&cauthor_id=28283832"
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data-ga-label="Diane Doummar">Diane Doummar</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adolescent, Paris, France." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Alby+C&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
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||
data-ga-label="Caroline Alby">Caroline Alby</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France." href="#full-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Cormier-Daire+V&cauthor_id=28283832"
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data-ga-label="Valérie Cormier-Daire">Valérie Cormier-Daire</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM U1163, Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France." href="#full-view-affiliation-23" ref="linksrc=author_aff">
|
||
23
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France." href="#full-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Garel+C&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
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data-ga-label="Catherine Garel">Catherine Garel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, GHUEP, Service de Radiologie, Hôpital Armand-Trousseau, 75012, Paris, France." href="#full-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Marzin+P&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Pauline Marzin">Pauline Marzin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Scheidecker+S&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Sophie Scheidecker">Sophie Scheidecker</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratoires de Génétique, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000, Strasbourg, France." href="#full-view-affiliation-25" ref="linksrc=author_aff">
|
||
25
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=de+Saint-Martin+A&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
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||
data-ga-label="Anne de Saint-Martin">Anne de Saint-Martin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France." href="#full-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Pediatric Neurology Department, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France." href="#full-view-affiliation-27" ref="linksrc=author_aff">
|
||
27
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hirsch+E&cauthor_id=28283832"
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ref="linksrc=author_name_link"
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||
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data-ga-label="Edouard Hirsch">Edouard Hirsch</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France." href="#full-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical and Surgical Epilepsy Unit, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France." href="#full-view-affiliation-28" ref="linksrc=author_aff">
|
||
28
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Korff+C&cauthor_id=28283832"
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||
ref="linksrc=author_name_link"
|
||
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data-ga-label="Christian Korff">Christian Korff</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de l'Enfant et de l'Adolescent, Neuropédiatrie, Hôpitaux Universitaires de Genève, Geneva, Switzerland." href="#full-view-affiliation-29" ref="linksrc=author_aff">
|
||
29
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Bottani+A&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Armand Bottani">Armand Bottani</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Médecine génétique, Hôpitaux Universitaires de Genève, Geneva, Switzerland." href="#full-view-affiliation-30" ref="linksrc=author_aff">
|
||
30
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Faivre+L&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Laurence Faivre">Laurence Faivre</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079, Dijon, France." href="#full-view-affiliation-31" ref="linksrc=author_aff">
|
||
31
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079, Dijon, France." href="#full-view-affiliation-32" ref="linksrc=author_aff">
|
||
32
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Verloes+A&cauthor_id=28283832"
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||
ref="linksrc=author_name_link"
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||
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||
data-ga-label="Alain Verloes">Alain Verloes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Department of Genetics, Hôpital Robert Debré, Paris, France." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Orzechowski+C&cauthor_id=28283832"
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||
ref="linksrc=author_name_link"
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||
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data-ga-label="Christine Orzechowski">Christine Orzechowski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Pédiatrie, Hôpital Saint-Camille Bry-sur-Marne, Le Chesnay, France." href="#full-view-affiliation-33" ref="linksrc=author_aff">
|
||
33
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Burglen+L&cauthor_id=28283832"
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||
ref="linksrc=author_name_link"
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||
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||
data-ga-label="Lydie Burglen">Lydie Burglen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Service de Génétique, Hôpital Trousseau, 75012, Paris, France." href="#full-view-affiliation-34" ref="linksrc=author_aff">
|
||
34
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, 75012, Paris, France." href="#full-view-affiliation-35" ref="linksrc=author_aff">
|
||
35
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Leheup+B&cauthor_id=28283832"
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ref="linksrc=author_name_link"
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data-ga-label="Bruno Leheup">Bruno Leheup</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de génétique clinique, Hôpital de Brabois, CHU de Nancy, Nancy, France." href="#full-view-affiliation-36" ref="linksrc=author_aff">
|
||
36
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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||
href="/?term=Roume+J&cauthor_id=28283832"
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ref="linksrc=author_name_link"
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data-ga-label="Joelle Roume">Joelle Roume</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, Poissy-Saint-Germain-en-Laye Hospital, Poissy, France." href="#full-view-affiliation-37" ref="linksrc=author_aff">
|
||
37
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Andrieux+J&cauthor_id=28283832"
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ref="linksrc=author_name_link"
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data-ga-label="Joris Andrieux">Joris Andrieux</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut de Génétique Médicale, CHRU de Lille, Lille, France." href="#full-view-affiliation-38" ref="linksrc=author_aff">
|
||
38
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Sheth+F&cauthor_id=28283832"
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ref="linksrc=author_name_link"
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data-ga-label="Frenny Sheth">Frenny Sheth</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Cytogenetics and Molecular Cytogenetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India." href="#full-view-affiliation-39" ref="linksrc=author_aff">
|
||
39
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Datar+C&cauthor_id=28283832"
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ref="linksrc=author_name_link"
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||
data-ga-category="search"
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data-ga-label="Chaitanya Datar">Chaitanya Datar</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), Pune, 411005, India." href="#full-view-affiliation-40" ref="linksrc=author_aff">
|
||
40
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Parker+MJ&cauthor_id=28283832"
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ref="linksrc=author_name_link"
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data-ga-label="Michael J Parker">Michael J Parker</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Sheffield Clinical Genetics Service, OPD2, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK." href="#full-view-affiliation-41" ref="linksrc=author_aff">
|
||
41
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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42
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Sylvie Odent">Sylvie Odent</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Clinique, CHU de Rennes, Rennes, France." href="#full-view-affiliation-42" ref="linksrc=author_aff">
|
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42
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de référence CLAD-Ouest, CHU Rennes, Rennes, France." href="#full-view-affiliation-43" ref="linksrc=author_aff">
|
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43
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="UMR 6290 CNRS, IGDR Institut de Génétique et développement de Rennes, Université de Rennes 1, Rennes, France." href="#full-view-affiliation-44" ref="linksrc=author_aff">
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44
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Sophie Naudion">Sophie Naudion</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France." href="#full-view-affiliation-45" ref="linksrc=author_aff">
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45
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Marie-Ange Delrue">Marie-Ange Delrue</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France." href="#full-view-affiliation-45" ref="linksrc=author_aff">
|
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45
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence des Anomalies du Développement Embryonnaire, CHU Bordeaux, Bordeaux, France." href="#full-view-affiliation-46" ref="linksrc=author_aff">
|
||
46
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Cédric Le Caignec">Cédric Le Caignec</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, CHU de Nantes, Nantes, France." href="#full-view-affiliation-47" ref="linksrc=author_aff">
|
||
47
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France." href="#full-view-affiliation-48" ref="linksrc=author_aff">
|
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48
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Marie Vincent">Marie Vincent</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, CHU de Nantes, Nantes, France." href="#full-view-affiliation-47" ref="linksrc=author_aff">
|
||
47
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Isidor+B&cauthor_id=28283832"
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data-ga-label="Bertrand Isidor">Bertrand Isidor</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, CHU de Nantes, Nantes, France." href="#full-view-affiliation-47" ref="linksrc=author_aff">
|
||
47
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France." href="#full-view-affiliation-48" ref="linksrc=author_aff">
|
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48
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Renaldo+F&cauthor_id=28283832"
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data-ga-label="Florence Renaldo">Florence Renaldo</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Department of Child Neurology, Hôpital Robert Debré, Paris, France." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
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10
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
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14
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Stewart+F&cauthor_id=28283832"
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data-ga-label="Fiona Stewart">Fiona Stewart</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Ireland." href="#full-view-affiliation-49" ref="linksrc=author_aff">
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49
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Toutain+A&cauthor_id=28283832"
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data-ga-label="Annick Toutain">Annick Toutain</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, CHU Tours, Tours, France." href="#full-view-affiliation-50" ref="linksrc=author_aff">
|
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50
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Koehler+U&cauthor_id=28283832"
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data-ga-label="Udo Koehler">Udo Koehler</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medizinisch Genetisches Zentrum, 80335, Munich, Germany." href="#full-view-affiliation-51" ref="linksrc=author_aff">
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51
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=H%C3%A4ckl+B&cauthor_id=28283832"
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data-ga-label="Birgit Häckl">Birgit Häckl</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany." href="#full-view-affiliation-52" ref="linksrc=author_aff">
|
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52
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=von+St%C3%BClpnagel+C&cauthor_id=28283832"
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data-ga-label="Celina von Stülpnagel">Celina von Stülpnagel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany." href="#full-view-affiliation-52" ref="linksrc=author_aff">
|
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52
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Kluger+G&cauthor_id=28283832"
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data-ga-label="Gerhard Kluger">Gerhard Kluger</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany." href="#full-view-affiliation-52" ref="linksrc=author_aff">
|
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52
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="PMU Salzburg, Salzburg, Austria." href="#full-view-affiliation-53" ref="linksrc=author_aff">
|
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53
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=M%C3%B8ller+RS&cauthor_id=28283832"
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data-ga-label="Rikke S Møller">Rikke S Møller</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Danish Epilepsy Centre, Dianalund, Denmark." href="#full-view-affiliation-54" ref="linksrc=author_aff">
|
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54
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark." href="#full-view-affiliation-55" ref="linksrc=author_aff">
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55
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EuroEPINOMICS RES consortium." href="#full-view-affiliation-8" ref="linksrc=author_aff">
|
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8
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Pal+D&cauthor_id=28283832"
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data-ga-label="Deb Pal">Deb Pal</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London, UK." href="#full-view-affiliation-56" ref="linksrc=author_aff">
|
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56
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EuroEPINOMICS RES consortium." href="#full-view-affiliation-8" ref="linksrc=author_aff">
|
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8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Jonson+T&cauthor_id=28283832"
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data-ga-label="Tord Jonson">Tord Jonson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden." href="#full-view-affiliation-57" ref="linksrc=author_aff">
|
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57
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Soller+M&cauthor_id=28283832"
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data-ga-label="Maria Soller">Maria Soller</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Lund University Hospital, 221 85, Lund, Sweden." href="#full-view-affiliation-58" ref="linksrc=author_aff">
|
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58
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Verbeek+NE&cauthor_id=28283832"
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data-ga-label="Nienke E Verbeek">Nienke E Verbeek</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#full-view-affiliation-59" ref="linksrc=author_aff">
|
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59
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=van+Haelst+MM&cauthor_id=28283832"
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data-ga-label="Mieke M van Haelst">Mieke M van Haelst</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#full-view-affiliation-59" ref="linksrc=author_aff">
|
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59
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=de+Kovel+C&cauthor_id=28283832"
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data-ga-label="Carolien de Kovel">Carolien de Kovel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#full-view-affiliation-59" ref="linksrc=author_aff">
|
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59
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Koeleman+B&cauthor_id=28283832"
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data-ga-label="Bobby Koeleman">Bobby Koeleman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#full-view-affiliation-59" ref="linksrc=author_aff">
|
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59
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#full-view-affiliation-60" ref="linksrc=author_aff">
|
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60
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EuroEPINOMICS RES consortium." href="#full-view-affiliation-8" ref="linksrc=author_aff">
|
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8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Monroe+G&cauthor_id=28283832"
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data-ga-label="Glen Monroe">Glen Monroe</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#full-view-affiliation-59" ref="linksrc=author_aff">
|
||
59
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#full-view-affiliation-60" ref="linksrc=author_aff">
|
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60
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=van+Haaften+G&cauthor_id=28283832"
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data-ga-label="Gijs van Haaften">Gijs van Haaften</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#full-view-affiliation-59" ref="linksrc=author_aff">
|
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59
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#full-view-affiliation-60" ref="linksrc=author_aff">
|
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60
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</a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="DDD Study">DDD Study</a><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Atti%C3%A9-Bitach+T&cauthor_id=28283832"
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data-ga-label="Tania Attié-Bitach">Tania Attié-Bitach</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
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21
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||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France." href="#full-view-affiliation-22" ref="linksrc=author_aff">
|
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22
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Boutaud+L&cauthor_id=28283832"
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data-ga-label="Lucile Boutaud">Lucile Boutaud</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
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21
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France." href="#full-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=H%C3%A9ron+D&cauthor_id=28283832"
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data-ga-label="Delphine Héron">Delphine Héron</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Groupe de Recherche Clinique (GRC) "déficience intellectuelle et autisme" UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence "déficiences intellectuelles de causes rares", Paris, France." href="#full-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Mignot+C&cauthor_id=28283832"
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data-ga-label="Cyril Mignot">Cyril Mignot</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France. cyril.mignot@aphp.fr." href="#full-view-affiliation-61" ref="linksrc=author_aff">
|
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61
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Groupe de Recherche Clinique (GRC) "déficience intellectuelle et autisme" UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France. cyril.mignot@aphp.fr." href="#full-view-affiliation-62" ref="linksrc=author_aff">
|
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62
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence "déficiences intellectuelles de causes rares", Paris, France. cyril.mignot@aphp.fr." href="#full-view-affiliation-63" ref="linksrc=author_aff">
|
||
63
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EuroEPINOMICS RES consortium, . cyril.mignot@aphp.fr." href="#full-view-affiliation-64" ref="linksrc=author_aff">
|
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64
|
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</a></sup></span>
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Affiliations
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<div class="affiliations">
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<h3 class="title">
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Affiliations
|
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</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="full-view-affiliation-1"
|
||
id="full-view-affiliation-1"
|
||
><sup class="key">1</sup> IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France. depiennc@igbmc.fr.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-2"
|
||
id="full-view-affiliation-2"
|
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><sup class="key">2</sup> Laboratoires de Génétique, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000, Strasbourg, France. depiennc@igbmc.fr.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-3"
|
||
id="full-view-affiliation-3"
|
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><sup class="key">3</sup> INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France. depiennc@igbmc.fr.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-4"
|
||
id="full-view-affiliation-4"
|
||
><sup class="key">4</sup> AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France. depiennc@igbmc.fr.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-5"
|
||
id="full-view-affiliation-5"
|
||
><sup class="key">5</sup> EuroEPINOMICS RES consortium, . depiennc@igbmc.fr.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-6"
|
||
id="full-view-affiliation-6"
|
||
><sup class="key">6</sup> INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-7"
|
||
id="full-view-affiliation-7"
|
||
><sup class="key">7</sup> AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-8"
|
||
id="full-view-affiliation-8"
|
||
><sup class="key">8</sup> EuroEPINOMICS RES consortium.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-9"
|
||
id="full-view-affiliation-9"
|
||
><sup class="key">9</sup> Groupe de Recherche Clinique (GRC) "déficience intellectuelle et autisme" UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-10"
|
||
id="full-view-affiliation-10"
|
||
><sup class="key">10</sup> AP-HP, Department of Child Neurology, Hôpital Robert Debré, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-11"
|
||
id="full-view-affiliation-11"
|
||
><sup class="key">11</sup> AP-HP, Department of Genetics, Hôpital Robert Debré, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-12"
|
||
id="full-view-affiliation-12"
|
||
><sup class="key">12</sup> INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-13"
|
||
id="full-view-affiliation-13"
|
||
><sup class="key">13</sup> AP-HP, Département de Génétique Médicale, Unité fonctionnelle de Génétique Chromosomique, CHU Paris Est, Hôpital d'Enfants Armand-Trousseau, 75571, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-14"
|
||
id="full-view-affiliation-14"
|
||
><sup class="key">14</sup> AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-15"
|
||
id="full-view-affiliation-15"
|
||
><sup class="key">15</sup> UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-16"
|
||
id="full-view-affiliation-16"
|
||
><sup class="key">16</sup> Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adolescent, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-17"
|
||
id="full-view-affiliation-17"
|
||
><sup class="key">17</sup> Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-18"
|
||
id="full-view-affiliation-18"
|
||
><sup class="key">18</sup> Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, 3052, Australia.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-19"
|
||
id="full-view-affiliation-19"
|
||
><sup class="key">19</sup> Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-20"
|
||
id="full-view-affiliation-20"
|
||
><sup class="key">20</sup> Centre de Référence "déficiences intellectuelles de causes rares", Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-21"
|
||
id="full-view-affiliation-21"
|
||
><sup class="key">21</sup> INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-22"
|
||
id="full-view-affiliation-22"
|
||
><sup class="key">22</sup> AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-23"
|
||
id="full-view-affiliation-23"
|
||
><sup class="key">23</sup> INSERM U1163, Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-24"
|
||
id="full-view-affiliation-24"
|
||
><sup class="key">24</sup> AP-HP, GHUEP, Service de Radiologie, Hôpital Armand-Trousseau, 75012, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-25"
|
||
id="full-view-affiliation-25"
|
||
><sup class="key">25</sup> Laboratoires de Génétique, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000, Strasbourg, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-26"
|
||
id="full-view-affiliation-26"
|
||
><sup class="key">26</sup> IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-27"
|
||
id="full-view-affiliation-27"
|
||
><sup class="key">27</sup> Pediatric Neurology Department, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-28"
|
||
id="full-view-affiliation-28"
|
||
><sup class="key">28</sup> Medical and Surgical Epilepsy Unit, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-29"
|
||
id="full-view-affiliation-29"
|
||
><sup class="key">29</sup> Département de l'Enfant et de l'Adolescent, Neuropédiatrie, Hôpitaux Universitaires de Genève, Geneva, Switzerland.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-30"
|
||
id="full-view-affiliation-30"
|
||
><sup class="key">30</sup> Service de Médecine génétique, Hôpitaux Universitaires de Genève, Geneva, Switzerland.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-31"
|
||
id="full-view-affiliation-31"
|
||
><sup class="key">31</sup> Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079, Dijon, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-32"
|
||
id="full-view-affiliation-32"
|
||
><sup class="key">32</sup> Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079, Dijon, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-33"
|
||
id="full-view-affiliation-33"
|
||
><sup class="key">33</sup> Service de Pédiatrie, Hôpital Saint-Camille Bry-sur-Marne, Le Chesnay, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-34"
|
||
id="full-view-affiliation-34"
|
||
><sup class="key">34</sup> AP-HP, Service de Génétique, Hôpital Trousseau, 75012, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-35"
|
||
id="full-view-affiliation-35"
|
||
><sup class="key">35</sup> Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, 75012, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-36"
|
||
id="full-view-affiliation-36"
|
||
><sup class="key">36</sup> Service de génétique clinique, Hôpital de Brabois, CHU de Nancy, Nancy, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-37"
|
||
id="full-view-affiliation-37"
|
||
><sup class="key">37</sup> Department of Genetics, Poissy-Saint-Germain-en-Laye Hospital, Poissy, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-38"
|
||
id="full-view-affiliation-38"
|
||
><sup class="key">38</sup> Institut de Génétique Médicale, CHRU de Lille, Lille, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-39"
|
||
id="full-view-affiliation-39"
|
||
><sup class="key">39</sup> Department of Cytogenetics and Molecular Cytogenetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-40"
|
||
id="full-view-affiliation-40"
|
||
><sup class="key">40</sup> Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), Pune, 411005, India.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-41"
|
||
id="full-view-affiliation-41"
|
||
><sup class="key">41</sup> Sheffield Clinical Genetics Service, OPD2, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-42"
|
||
id="full-view-affiliation-42"
|
||
><sup class="key">42</sup> Service de Génétique Clinique, CHU de Rennes, Rennes, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-43"
|
||
id="full-view-affiliation-43"
|
||
><sup class="key">43</sup> Centre de référence CLAD-Ouest, CHU Rennes, Rennes, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-44"
|
||
id="full-view-affiliation-44"
|
||
><sup class="key">44</sup> UMR 6290 CNRS, IGDR Institut de Génétique et développement de Rennes, Université de Rennes 1, Rennes, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-45"
|
||
id="full-view-affiliation-45"
|
||
><sup class="key">45</sup> Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-46"
|
||
id="full-view-affiliation-46"
|
||
><sup class="key">46</sup> Centre de Référence des Anomalies du Développement Embryonnaire, CHU Bordeaux, Bordeaux, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-47"
|
||
id="full-view-affiliation-47"
|
||
><sup class="key">47</sup> Service de Génétique Médicale, CHU de Nantes, Nantes, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-48"
|
||
id="full-view-affiliation-48"
|
||
><sup class="key">48</sup> Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-49"
|
||
id="full-view-affiliation-49"
|
||
><sup class="key">49</sup> Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Ireland.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-50"
|
||
id="full-view-affiliation-50"
|
||
><sup class="key">50</sup> Service de Génétique Médicale, CHU Tours, Tours, France.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-51"
|
||
id="full-view-affiliation-51"
|
||
><sup class="key">51</sup> Medizinisch Genetisches Zentrum, 80335, Munich, Germany.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-52"
|
||
id="full-view-affiliation-52"
|
||
><sup class="key">52</sup> Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-53"
|
||
id="full-view-affiliation-53"
|
||
><sup class="key">53</sup> PMU Salzburg, Salzburg, Austria.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-54"
|
||
id="full-view-affiliation-54"
|
||
><sup class="key">54</sup> The Danish Epilepsy Centre, Dianalund, Denmark.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-55"
|
||
id="full-view-affiliation-55"
|
||
><sup class="key">55</sup> Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-56"
|
||
id="full-view-affiliation-56"
|
||
><sup class="key">56</sup> Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London, UK.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-57"
|
||
id="full-view-affiliation-57"
|
||
><sup class="key">57</sup> Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-58"
|
||
id="full-view-affiliation-58"
|
||
><sup class="key">58</sup> Department of Clinical Genetics, Lund University Hospital, 221 85, Lund, Sweden.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-59"
|
||
id="full-view-affiliation-59"
|
||
><sup class="key">59</sup> Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-60"
|
||
id="full-view-affiliation-60"
|
||
><sup class="key">60</sup> Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-61"
|
||
id="full-view-affiliation-61"
|
||
><sup class="key">61</sup> AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France. cyril.mignot@aphp.fr.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-62"
|
||
id="full-view-affiliation-62"
|
||
><sup class="key">62</sup> Groupe de Recherche Clinique (GRC) "déficience intellectuelle et autisme" UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France. cyril.mignot@aphp.fr.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-63"
|
||
id="full-view-affiliation-63"
|
||
><sup class="key">63</sup> Centre de Référence "déficiences intellectuelles de causes rares", Paris, France. cyril.mignot@aphp.fr.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-64"
|
||
id="full-view-affiliation-64"
|
||
><sup class="key">64</sup> EuroEPINOMICS RES consortium, . cyril.mignot@aphp.fr.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
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|
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|
||
|
||
|
||
|
||
<ul class="identifiers" id="full-view-identifiers">
|
||
|
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<li>
|
||
<span class="identifier pubmed">
|
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<span class="id-label">
|
||
|
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PMID:
|
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|
||
</span>
|
||
|
||
|
||
<strong class="current-id" title="PubMed ID">28283832</strong>
|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
|
||
|
||
<li>
|
||
<span class="identifier pmc">
|
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<span class="id-label">
|
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|
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PMCID:
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
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|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adolescent, Paris, France." href="#short-view-affiliation-16" ref="linksrc=author_aff">
|
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16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Alby+C&cauthor_id=28283832"
|
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ref="linksrc=author_name_link"
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data-ga-label="Caroline Alby">Caroline Alby</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Cormier-Daire+V&cauthor_id=28283832"
|
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ref="linksrc=author_name_link"
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||
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data-ga-label="Valérie Cormier-Daire">Valérie Cormier-Daire</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM U1163, Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France." href="#short-view-affiliation-23" ref="linksrc=author_aff">
|
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23
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Garel+C&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
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data-ga-label="Catherine Garel">Catherine Garel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, GHUEP, Service de Radiologie, Hôpital Armand-Trousseau, 75012, Paris, France." href="#short-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Marzin+P&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
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data-ga-label="Pauline Marzin">Pauline Marzin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Scheidecker+S&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Sophie Scheidecker">Sophie Scheidecker</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratoires de Génétique, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000, Strasbourg, France." href="#short-view-affiliation-25" ref="linksrc=author_aff">
|
||
25
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=de+Saint-Martin+A&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-label="Anne de Saint-Martin">Anne de Saint-Martin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France." href="#short-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Pediatric Neurology Department, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France." href="#short-view-affiliation-27" ref="linksrc=author_aff">
|
||
27
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Hirsch+E&cauthor_id=28283832"
|
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ref="linksrc=author_name_link"
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||
data-ga-category="search"
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data-ga-label="Edouard Hirsch">Edouard Hirsch</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France." href="#short-view-affiliation-26" ref="linksrc=author_aff">
|
||
26
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical and Surgical Epilepsy Unit, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France." href="#short-view-affiliation-28" ref="linksrc=author_aff">
|
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28
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Korff+C&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Christian Korff">Christian Korff</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de l'Enfant et de l'Adolescent, Neuropédiatrie, Hôpitaux Universitaires de Genève, Geneva, Switzerland." href="#short-view-affiliation-29" ref="linksrc=author_aff">
|
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29
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Bottani+A&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
data-ga-category="search"
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data-ga-label="Armand Bottani">Armand Bottani</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Médecine génétique, Hôpitaux Universitaires de Genève, Geneva, Switzerland." href="#short-view-affiliation-30" ref="linksrc=author_aff">
|
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30
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Faivre+L&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
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data-ga-label="Laurence Faivre">Laurence Faivre</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079, Dijon, France." href="#short-view-affiliation-31" ref="linksrc=author_aff">
|
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31
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079, Dijon, France." href="#short-view-affiliation-32" ref="linksrc=author_aff">
|
||
32
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Verloes+A&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
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data-ga-label="Alain Verloes">Alain Verloes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Department of Genetics, Hôpital Robert Debré, Paris, France." href="#short-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Orzechowski+C&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-label="Christine Orzechowski">Christine Orzechowski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Pédiatrie, Hôpital Saint-Camille Bry-sur-Marne, Le Chesnay, France." href="#short-view-affiliation-33" ref="linksrc=author_aff">
|
||
33
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Burglen+L&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
|
||
data-ga-label="Lydie Burglen">Lydie Burglen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France." href="#short-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Service de Génétique, Hôpital Trousseau, 75012, Paris, France." href="#short-view-affiliation-34" ref="linksrc=author_aff">
|
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34
|
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</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, 75012, Paris, France." href="#short-view-affiliation-35" ref="linksrc=author_aff">
|
||
35
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Leheup+B&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
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data-ga-label="Bruno Leheup">Bruno Leheup</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de génétique clinique, Hôpital de Brabois, CHU de Nancy, Nancy, France." href="#short-view-affiliation-36" ref="linksrc=author_aff">
|
||
36
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Roume+J&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-label="Joelle Roume">Joelle Roume</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, Poissy-Saint-Germain-en-Laye Hospital, Poissy, France." href="#short-view-affiliation-37" ref="linksrc=author_aff">
|
||
37
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Andrieux+J&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-label="Joris Andrieux">Joris Andrieux</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut de Génétique Médicale, CHRU de Lille, Lille, France." href="#short-view-affiliation-38" ref="linksrc=author_aff">
|
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38
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Sheth+F&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-label="Frenny Sheth">Frenny Sheth</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Cytogenetics and Molecular Cytogenetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India." href="#short-view-affiliation-39" ref="linksrc=author_aff">
|
||
39
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Datar+C&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-label="Chaitanya Datar">Chaitanya Datar</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), Pune, 411005, India." href="#short-view-affiliation-40" ref="linksrc=author_aff">
|
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40
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Parker+MJ&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
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data-ga-label="Michael J Parker">Michael J Parker</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Sheffield Clinical Genetics Service, OPD2, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK." href="#short-view-affiliation-41" ref="linksrc=author_aff">
|
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41
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Pasquier+L&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-label="Laurent Pasquier">Laurent Pasquier</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Clinique, CHU de Rennes, Rennes, France." href="#short-view-affiliation-42" ref="linksrc=author_aff">
|
||
42
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Odent+S&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
data-ga-category="search"
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||
data-ga-label="Sylvie Odent">Sylvie Odent</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Clinique, CHU de Rennes, Rennes, France." href="#short-view-affiliation-42" ref="linksrc=author_aff">
|
||
42
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de référence CLAD-Ouest, CHU Rennes, Rennes, France." href="#short-view-affiliation-43" ref="linksrc=author_aff">
|
||
43
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="UMR 6290 CNRS, IGDR Institut de Génétique et développement de Rennes, Université de Rennes 1, Rennes, France." href="#short-view-affiliation-44" ref="linksrc=author_aff">
|
||
44
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Naudion+S&cauthor_id=28283832"
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||
ref="linksrc=author_name_link"
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||
data-ga-category="search"
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data-ga-action="author_link"
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data-ga-label="Sophie Naudion">Sophie Naudion</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France." href="#short-view-affiliation-45" ref="linksrc=author_aff">
|
||
45
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Delrue+MA&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
data-ga-category="search"
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data-ga-label="Marie-Ange Delrue">Marie-Ange Delrue</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France." href="#short-view-affiliation-45" ref="linksrc=author_aff">
|
||
45
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence des Anomalies du Développement Embryonnaire, CHU Bordeaux, Bordeaux, France." href="#short-view-affiliation-46" ref="linksrc=author_aff">
|
||
46
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Le+Caignec+C&cauthor_id=28283832"
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||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
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||
data-ga-label="Cédric Le Caignec">Cédric Le Caignec</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, CHU de Nantes, Nantes, France." href="#short-view-affiliation-47" ref="linksrc=author_aff">
|
||
47
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France." href="#short-view-affiliation-48" ref="linksrc=author_aff">
|
||
48
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Vincent+M&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
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data-ga-action="author_link"
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||
data-ga-label="Marie Vincent">Marie Vincent</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, CHU de Nantes, Nantes, France." href="#short-view-affiliation-47" ref="linksrc=author_aff">
|
||
47
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Isidor+B&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
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||
data-ga-label="Bertrand Isidor">Bertrand Isidor</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, CHU de Nantes, Nantes, France." href="#short-view-affiliation-47" ref="linksrc=author_aff">
|
||
47
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France." href="#short-view-affiliation-48" ref="linksrc=author_aff">
|
||
48
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Renaldo+F&cauthor_id=28283832"
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||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
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||
data-ga-label="Florence Renaldo">Florence Renaldo</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Department of Child Neurology, Hôpital Robert Debré, Paris, France." href="#short-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France." href="#short-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Stewart+F&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
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||
data-ga-category="search"
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data-ga-action="author_link"
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||
data-ga-label="Fiona Stewart">Fiona Stewart</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Ireland." href="#short-view-affiliation-49" ref="linksrc=author_aff">
|
||
49
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||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Toutain+A&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
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data-ga-action="author_link"
|
||
data-ga-label="Annick Toutain">Annick Toutain</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Service de Génétique Médicale, CHU Tours, Tours, France." href="#short-view-affiliation-50" ref="linksrc=author_aff">
|
||
50
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Koehler+U&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Udo Koehler">Udo Koehler</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medizinisch Genetisches Zentrum, 80335, Munich, Germany." href="#short-view-affiliation-51" ref="linksrc=author_aff">
|
||
51
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=H%C3%A4ckl+B&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Birgit Häckl">Birgit Häckl</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany." href="#short-view-affiliation-52" ref="linksrc=author_aff">
|
||
52
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=von+St%C3%BClpnagel+C&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Celina von Stülpnagel">Celina von Stülpnagel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany." href="#short-view-affiliation-52" ref="linksrc=author_aff">
|
||
52
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kluger+G&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Gerhard Kluger">Gerhard Kluger</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany." href="#short-view-affiliation-52" ref="linksrc=author_aff">
|
||
52
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="PMU Salzburg, Salzburg, Austria." href="#short-view-affiliation-53" ref="linksrc=author_aff">
|
||
53
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=M%C3%B8ller+RS&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Rikke S Møller">Rikke S Møller</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="The Danish Epilepsy Centre, Dianalund, Denmark." href="#short-view-affiliation-54" ref="linksrc=author_aff">
|
||
54
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark." href="#short-view-affiliation-55" ref="linksrc=author_aff">
|
||
55
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EuroEPINOMICS RES consortium." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Pal+D&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Deb Pal">Deb Pal</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London, UK." href="#short-view-affiliation-56" ref="linksrc=author_aff">
|
||
56
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EuroEPINOMICS RES consortium." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Jonson+T&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Tord Jonson">Tord Jonson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden." href="#short-view-affiliation-57" ref="linksrc=author_aff">
|
||
57
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Soller+M&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Maria Soller">Maria Soller</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, Lund University Hospital, 221 85, Lund, Sweden." href="#short-view-affiliation-58" ref="linksrc=author_aff">
|
||
58
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Verbeek+NE&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Nienke E Verbeek">Nienke E Verbeek</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#short-view-affiliation-59" ref="linksrc=author_aff">
|
||
59
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=van+Haelst+MM&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Mieke M van Haelst">Mieke M van Haelst</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#short-view-affiliation-59" ref="linksrc=author_aff">
|
||
59
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=de+Kovel+C&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Carolien de Kovel">Carolien de Kovel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#short-view-affiliation-59" ref="linksrc=author_aff">
|
||
59
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Koeleman+B&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Bobby Koeleman">Bobby Koeleman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#short-view-affiliation-59" ref="linksrc=author_aff">
|
||
59
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#short-view-affiliation-60" ref="linksrc=author_aff">
|
||
60
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EuroEPINOMICS RES consortium." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Monroe+G&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Glen Monroe">Glen Monroe</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#short-view-affiliation-59" ref="linksrc=author_aff">
|
||
59
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#short-view-affiliation-60" ref="linksrc=author_aff">
|
||
60
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=van+Haaften+G&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Gijs van Haaften">Gijs van Haaften</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#short-view-affiliation-59" ref="linksrc=author_aff">
|
||
59
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands." href="#short-view-affiliation-60" ref="linksrc=author_aff">
|
||
60
|
||
</a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=DDD+Study%5BCorporate+Author%5D"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="DDD Study">DDD Study</a><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Atti%C3%A9-Bitach+T&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Tania Attié-Bitach">Tania Attié-Bitach</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Boutaud+L&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Lucile Boutaud">Lucile Boutaud</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=H%C3%A9ron+D&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Delphine Héron">Delphine Héron</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Groupe de Recherche Clinique (GRC) "déficience intellectuelle et autisme" UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France." href="#short-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence "déficiences intellectuelles de causes rares", Paris, France." href="#short-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Mignot+C&cauthor_id=28283832"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Cyril Mignot">Cyril Mignot</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France. cyril.mignot@aphp.fr." href="#short-view-affiliation-61" ref="linksrc=author_aff">
|
||
61
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Groupe de Recherche Clinique (GRC) "déficience intellectuelle et autisme" UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France. cyril.mignot@aphp.fr." href="#short-view-affiliation-62" ref="linksrc=author_aff">
|
||
62
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Référence "déficiences intellectuelles de causes rares", Paris, France. cyril.mignot@aphp.fr." href="#short-view-affiliation-63" ref="linksrc=author_aff">
|
||
63
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="EuroEPINOMICS RES consortium, . cyril.mignot@aphp.fr." href="#short-view-affiliation-64" ref="linksrc=author_aff">
|
||
64
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
||
<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France. depiennc@igbmc.fr.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Laboratoires de Génétique, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000, Strasbourg, France. depiennc@igbmc.fr.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France. depiennc@igbmc.fr.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France. depiennc@igbmc.fr.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> EuroEPINOMICS RES consortium, . depiennc@igbmc.fr.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> EuroEPINOMICS RES consortium.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Groupe de Recherche Clinique (GRC) "déficience intellectuelle et autisme" UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> AP-HP, Department of Child Neurology, Hôpital Robert Debré, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> AP-HP, Department of Genetics, Hôpital Robert Debré, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> INSERM UMR U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> AP-HP, Département de Génétique Médicale, Unité fonctionnelle de Génétique Chromosomique, CHU Paris Est, Hôpital d'Enfants Armand-Trousseau, 75571, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> AP-HP, Service de Neuropédiatrie, Hôpital Trousseau, 75012, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> UPMC, GRC ConCer-LD, Sorbonne Université, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adolescent, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, 3052, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Centre de Référence "déficiences intellectuelles de causes rares", Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> AP-HP, Département de Génétique, Hôpital Necker-Enfants Malades, 75015, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> INSERM U1163, Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, Sorbonne Paris Cité and Imagine Institute, Paris Descartes University, 75015, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-24"
|
||
id="short-view-affiliation-24"
|
||
><sup class="key">24</sup> AP-HP, GHUEP, Service de Radiologie, Hôpital Armand-Trousseau, 75012, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-25"
|
||
id="short-view-affiliation-25"
|
||
><sup class="key">25</sup> Laboratoires de Génétique, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000, Strasbourg, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-26"
|
||
id="short-view-affiliation-26"
|
||
><sup class="key">26</sup> IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, 67400, Illkirch, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-27"
|
||
id="short-view-affiliation-27"
|
||
><sup class="key">27</sup> Pediatric Neurology Department, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-28"
|
||
id="short-view-affiliation-28"
|
||
><sup class="key">28</sup> Medical and Surgical Epilepsy Unit, Hautepierre Hospital, Strasbourg University Hospital, Strasbourg, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-29"
|
||
id="short-view-affiliation-29"
|
||
><sup class="key">29</sup> Département de l'Enfant et de l'Adolescent, Neuropédiatrie, Hôpitaux Universitaires de Genève, Geneva, Switzerland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-30"
|
||
id="short-view-affiliation-30"
|
||
><sup class="key">30</sup> Service de Médecine génétique, Hôpitaux Universitaires de Genève, Geneva, Switzerland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-31"
|
||
id="short-view-affiliation-31"
|
||
><sup class="key">31</sup> Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079, Dijon, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-32"
|
||
id="short-view-affiliation-32"
|
||
><sup class="key">32</sup> Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079, Dijon, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-33"
|
||
id="short-view-affiliation-33"
|
||
><sup class="key">33</sup> Service de Pédiatrie, Hôpital Saint-Camille Bry-sur-Marne, Le Chesnay, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-34"
|
||
id="short-view-affiliation-34"
|
||
><sup class="key">34</sup> AP-HP, Service de Génétique, Hôpital Trousseau, 75012, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-35"
|
||
id="short-view-affiliation-35"
|
||
><sup class="key">35</sup> Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, 75012, Paris, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-36"
|
||
id="short-view-affiliation-36"
|
||
><sup class="key">36</sup> Service de génétique clinique, Hôpital de Brabois, CHU de Nancy, Nancy, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-37"
|
||
id="short-view-affiliation-37"
|
||
><sup class="key">37</sup> Department of Genetics, Poissy-Saint-Germain-en-Laye Hospital, Poissy, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-38"
|
||
id="short-view-affiliation-38"
|
||
><sup class="key">38</sup> Institut de Génétique Médicale, CHRU de Lille, Lille, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-39"
|
||
id="short-view-affiliation-39"
|
||
><sup class="key">39</sup> Department of Cytogenetics and Molecular Cytogenetics, FRIGE's Institute of Human Genetics, FRIGE House, Satellite, Ahmedabad, India.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-40"
|
||
id="short-view-affiliation-40"
|
||
><sup class="key">40</sup> Sahyadari Medical Genetics and Tissue engineering facility (SMGTEF), Pune, 411005, India.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-41"
|
||
id="short-view-affiliation-41"
|
||
><sup class="key">41</sup> Sheffield Clinical Genetics Service, OPD2, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-42"
|
||
id="short-view-affiliation-42"
|
||
><sup class="key">42</sup> Service de Génétique Clinique, CHU de Rennes, Rennes, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-43"
|
||
id="short-view-affiliation-43"
|
||
><sup class="key">43</sup> Centre de référence CLAD-Ouest, CHU Rennes, Rennes, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-44"
|
||
id="short-view-affiliation-44"
|
||
><sup class="key">44</sup> UMR 6290 CNRS, IGDR Institut de Génétique et développement de Rennes, Université de Rennes 1, Rennes, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-45"
|
||
id="short-view-affiliation-45"
|
||
><sup class="key">45</sup> Service de Génétique Médicale, Hôpital Pellegrin, CHU Bordeaux, Bordeaux, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-46"
|
||
id="short-view-affiliation-46"
|
||
><sup class="key">46</sup> Centre de Référence des Anomalies du Développement Embryonnaire, CHU Bordeaux, Bordeaux, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-47"
|
||
id="short-view-affiliation-47"
|
||
><sup class="key">47</sup> Service de Génétique Médicale, CHU de Nantes, Nantes, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-48"
|
||
id="short-view-affiliation-48"
|
||
><sup class="key">48</sup> Faculté de Médecine, INSERM, UMR 957, Physiopathologie de la résorption osseuse et des tumeurs osseuses primitives, Université, Nantes, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-49"
|
||
id="short-view-affiliation-49"
|
||
><sup class="key">49</sup> Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Ireland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-50"
|
||
id="short-view-affiliation-50"
|
||
><sup class="key">50</sup> Service de Génétique Médicale, CHU Tours, Tours, France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-51"
|
||
id="short-view-affiliation-51"
|
||
><sup class="key">51</sup> Medizinisch Genetisches Zentrum, 80335, Munich, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-52"
|
||
id="short-view-affiliation-52"
|
||
><sup class="key">52</sup> Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, 83569, Vogtareuth, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-53"
|
||
id="short-view-affiliation-53"
|
||
><sup class="key">53</sup> PMU Salzburg, Salzburg, Austria.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-54"
|
||
id="short-view-affiliation-54"
|
||
><sup class="key">54</sup> The Danish Epilepsy Centre, Dianalund, Denmark.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-55"
|
||
id="short-view-affiliation-55"
|
||
><sup class="key">55</sup> Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-56"
|
||
id="short-view-affiliation-56"
|
||
><sup class="key">56</sup> Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London, UK.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-57"
|
||
id="short-view-affiliation-57"
|
||
><sup class="key">57</sup> Department of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University, Lund, Sweden.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-58"
|
||
id="short-view-affiliation-58"
|
||
><sup class="key">58</sup> Department of Clinical Genetics, Lund University Hospital, 221 85, Lund, Sweden.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-59"
|
||
id="short-view-affiliation-59"
|
||
><sup class="key">59</sup> Department of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-60"
|
||
id="short-view-affiliation-60"
|
||
><sup class="key">60</sup> Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-61"
|
||
id="short-view-affiliation-61"
|
||
><sup class="key">61</sup> AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France. cyril.mignot@aphp.fr.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-62"
|
||
id="short-view-affiliation-62"
|
||
><sup class="key">62</sup> Groupe de Recherche Clinique (GRC) "déficience intellectuelle et autisme" UPMC, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France. cyril.mignot@aphp.fr.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-63"
|
||
id="short-view-affiliation-63"
|
||
><sup class="key">63</sup> Centre de Référence "déficiences intellectuelles de causes rares", Paris, France. cyril.mignot@aphp.fr.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-64"
|
||
id="short-view-affiliation-64"
|
||
><sup class="key">64</sup> EuroEPINOMICS RES consortium, . cyril.mignot@aphp.fr.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
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||
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<strong class="current-id" title="PubMed ID">28283832</strong>
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10.1007/s00439-017-1772-0
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<p>
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Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these genes have been recently identified in children with neurodevelopmental phenotypes. In this study, we report the clinical and molecular data from 17 patients with 1q43q44 microdeletions, four with ZBTB18 mutations and seven with HNRNPU mutations, and review additional data from 37 previously published patients with 1q43q44 microdeletions. We compare clinical data of patients with 1q43q44 microdeletions with those of patients with point mutations in HNRNPU and ZBTB18 to assess the contribution of each gene as well as the possibility of epistasis between genes. Our study demonstrates that AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance. ZBTB18 may also contribute to microcephaly and HNRNPU to thin corpus callosum, but with a lower penetrance. Co-deletion of contiguous genes has additive effects. Our results confirm and refine the complex genotype-phenotype correlations existing in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of AKT3, ZBTB18 and HNRNPU in humans.
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<div class="conflict-of-interest" id="conflict-of-interest">
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|
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Conflict of interest statement
|
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<h5 class="coi-sec-title">Funding</h5>
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<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">This study was financially supported by the Assistance Publique des Hôpitaux de Paris (AP-HP), PHRC (no PO81260), INSERM, Fondation Maladies Rares, Fondation de France (FdF—Engt no 15144), Agence de la Biomédecine, Agence Nationale de la Recherche (ANR Blanc CILAXCAL), and the “Investissements d’Avenir” programme ANR-10-IAIHU-06 (IHU-A-ICM). Dr Solveig Heide was supported by a master grant from the Fondation pour la Recherche Médicale (FRM). CD and CN are members of the Biopsy labex.</p>
|
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<h5 class="coi-sec-title">Conflict of interest</h5>
|
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<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">The authors declare no conflict of interest.</p>
|
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<h5 class="coi-sec-title">Ethical approval</h5>
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<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">The study received approval from local ethical standards committees on human experimentation.</p>
|
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|
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<h5 class="coi-sec-title">Informed consent</h5>
|
||
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<p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">Informed written consent was obtained from each individual or their parents or legal representatives before blood sampling.</p>
|
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<div class="figure-caption-contents"><p> Significant genotype–phenotype correlations gained from… </p></div>
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<p> Fig. 1 </p>
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<div class="figure-caption-contents"><p> Significant genotype–phenotype correlations gained from comparison of clinical data of patients with microdeletions.… </p></div>
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Fig. 1
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<div class="figure-caption-contents">Significant genotype–phenotype correlations gained from comparison of clinical data of patients with microdeletions. <b>a</b>, <b>b</b> Alignment of microdeletions found in patients with (<i>red bars</i>) and without (<i>blue bars</i>) microcephaly showed that deletions including <i>AKT3</i> (<i>upper panel</i>) were mostly associated with microcephaly and those excluding <i>AKT3</i> (<i>lower panel</i>) were mostly associated with normal OFC (<b>a</b>). The minimal critical region (<i>vertical rectangle with dashed borders</i>) overlapped the 5′ region <i>of AKT3</i>. Diagrams in <b>b</b> show the percentages of patients with (<i>red</i>) or without (<i>blue</i>) microcephaly who had a microdeletion including (<i>AKT3</i>−) or excluding (<i>AKT3</i>+) <i>AKT3</i> (<i>upper panel</i>), and comparison of the percentage of patients with (<i>red</i>) or without (<i>blue</i>) microcephaly who had a microdeletion encompassing only one of the three genes of interest, two genes or all three genes (<i>lower panel, empty circles</i> designate deleted genes, <i>full circles</i> are for non-deleted genes). <b>c</b>, <b>d</b> Alignment of the microdeletions found in patients with AnCC (AgCC <i>red bars</i>, DysCC <i>pink bars</i>, ThCC <i>green bars</i>) and patients without CC anomalies (<i>blue bars</i>) showed that deletions including <i>ZBTB18</i> (<i>upper panel</i>) were mostly associated with all types of AnCC and those excluding <i>ZBTB18</i> (<i>lower panel</i>) were mostly associated with normal CC. The minimal critical region (<i>vertical rectangle with dashed borders</i>) overlapped the entire coding sequence of <i>ZBTB18</i>. Diagrams in <b>d</b> show the percentages of patients with (<i>orange</i>) or without (<i>blue</i>) AnCC who had a microdeletion including (<i>ZBTB18</i>−) or excluding (<i>ZBTB18</i>+) <i>ZBTB18</i> (<i>upper panel</i>), and comparison of the percentage of patients with (<i>orange</i>) or without (<i>blue</i>) AnCC who had a microdeletion encompassing only one of the three genes of interest, two genes or all three genes (<i>lower panel</i>, <i>empty circles</i> designate deleted genes, <i>full circles</i> are for non-deleted genes). <b>e</b>, <b>f</b> Alignment of the microdeletions found in patients with (<i>red bars</i>) and without (<i>blue bars</i>) epilepsy showed that deletions including <i>HNRNPU</i> (<i>upper panel</i>) were mostly associated with epilepsy and those excluding <i>HNRNPU</i> (<i>lower panel</i>) were mostly associated with no seizures. The minimal critical region (<i>vertical rectangle with dashed borders</i>) overlapped the entire coding sequence of <i>HNRNPU</i> and <i>COX20</i>. Diagrams in <b>f</b> show the percentages of patients with (<i>red</i>) or without (<i>blue</i>) epilepsy who had a microdeletion including (<i>HNRNPU</i>−) or excluding (<i>HNRNPU</i>+) <i>HNRNPU</i> (<i>upper panel</i>), and comparison of the percentage of patients with (<i>red</i>) or without (<i>blue</i>) epilepsy who had a microdeletion encompassing only one of the three genes of interest, two genes or all three genes (<i>lower panel, empty circles</i> designate deleted genes, <i>full circles</i> are for non-deleted genes)</div>
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<div class="figure-caption-contents"><p> Summary of intragenic microdeletions and… </p></div>
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<div class="figure-caption-contents"><p> Summary of intragenic microdeletions and point mutations in <i> AKT3 </i> , <i> ZBTB18 </i> and <i> HNRNPU… </i> </p></div>
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Fig. 2
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<div class="figure-caption-contents">Summary of intragenic microdeletions and point mutations in <i>AKT3</i>, <i>ZBTB18</i> and <i>HNRNPU</i>. <b>a</b> A schematic representation of the <i>AKT3</i> gene and protein, location of point mutations (somatic) and duplications (somatic or germline) identified in patients with brain overgrowth syndromes (<i>upper panel</i>) and comparison of intragenic <i>AKT3</i> microdeletions and their association with microcephaly (<i>lower panel</i>). <b>b</b> A schematic representation of the <i>ZBTB18</i> gene and protein and location of pathogenic point mutations identified in patients with ID and/or AnCC, including this study (<i>upper panel</i>) and the literature (<i>lower panel</i>). <b>c</b> A schematic representation of the <i>HNRNPU</i> gene and protein and location of pathogenic point mutations identified in patients with ID and epilepsy, including this study (<i>upper panel</i>) and the literature (<i>lower panel</i>)</div>
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<div class="figure-caption-contents"><p> Aspects of the corpus callosum… </p></div>
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<div class="figure-caption-contents"><p> Aspects of the corpus callosum (CC) on MRI in patients with <i> ZBTB18 </i> and… </p></div>
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Fig. 3
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<div class="figure-caption-contents">Aspects of the corpus callosum (CC) on MRI in patients with <i>ZBTB18</i> and <i>HNRNPU</i> mutations and deletions. <b>a</b> Normal CC in a patient with <i>HNRNPU</i> mutation (<i>left</i>) and ThCC in two patients with <i>HNRNPU</i> deletions (<i>middle</i> and <i>right</i>). <b>b</b> Partial AgCC (<i>left</i> and <i>right</i>) and short DysCC (<i>middle</i>) in three patients with <i>ZBTB18</i> mutations. <b>c</b> ThCC (<i>left</i>) and normal CC (<i>middle</i>) in two patients with <i>AKT3</i> + <i>ZBTB18</i> deletions. Partial AgCC in a patient with a deletion encompassing <i>AKT3</i> + <i>ZBTB18</i> + <i>HNRNPU</i> (<i>right</i>)</div>
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<span class="docsum-authors full-authors">Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, Sell SL, Steinraths M, Surti U, McGuire M, Williams S, Farrell SA, Filiano J, Schnur RE, Coffey LB, Tervo RC, Stroud T, Marble M, Netzloff M, Hanson K, Aylsworth AS, Bamforth JS, Babu D, Niyazov DM, Ravnan JB, Schultz RA, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG.</span>
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<span class="docsum-journal-citation full-journal-citation">Hum Genet. 2012 Jan;131(1):145-56. doi: 10.1007/s00439-011-1073-y. Epub 2011 Jul 29.</span>
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<span class="citation-part">PMID: <span class="docsum-pmid">21800092</span></span>
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Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet. 2007;81:292–303. doi: 10.1086/519999.
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Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tonnies H, van’t Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. Eur J Med Genet. 2010;53:179–185. doi: 10.1016/j.ejmg.2010.04.001.
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Carvill GL, Heavin SB, Yendle SC, McMahon JM, O’Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Moller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet. 2013;45:825–830. doi: 10.1038/ng.2646.
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BIOBASE HGMD Professional: <a href="http://www.biobase-international.com/product/hgmd" rel="noopener nofollow" target="_blank" title="External link: http://www.biobase-international.com/product/hgmd">http://www.biobase-international.com/product/hgmd</a>
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Search in MeSH
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Phenotype*
|
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</button><div id="keyword-actions-mesh-terms-major-6"
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Repressor Proteins / genetics*
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<div id="substances" class="substances keywords-section">
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aria-label="Dropdown menu for keyword Repressor Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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</a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
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<div id="related-links" class="related-links">
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Related information
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</h2>
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Cited in Books
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</a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&from_uid=28283832"
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ClinVar
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Gene
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</a></li><li><a title="Link to Gene for the GeneRIF subcategory" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene_rif&from_uid=28283832"
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Gene (GeneRIF)
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</a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=28283832"
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28283832&ordinalpos=1&linkpos=5">
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MedGen
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</a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&from_uid=28283832"
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MedGen (Bookshelf cited)
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</a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&from_uid=28283832"
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|
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OMIM (cited)
|
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</a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&from_uid=28283832"
|
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=28283832&ordinalpos=1&linkpos=8">
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Protein (RefSeq)
|
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</a></li><li><a title="Link from PubMed to dbVar" href="https://www.ncbi.nlm.nih.gov/dbvar?linkname=pubmed_dbvar&from_uid=28283832"
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|
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dbVar
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</a></li></ul>
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</div>
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<div id="grants" class="grants">
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Grants and funding
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title="All articles for grant MR/N026063/1/MRC_/Medical Research Council/United Kingdom"
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