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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
|
||
<!--
|
||
UID=11248
|
||
ConceptID=C0035639
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ring chromosome</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11248</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0035639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Cell or Molecular Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Chromosome, Ring; Chromosomes, Ring; Ring Chromosome; Ring Chromosomes</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Ring chromosome (23345003); Ring chromosome (1010276004)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363203">ORPHA363203</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An aberrant chromosome where the arms have fused to form a ring. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0008626[DISCUI]&test_type=Clinical" ref="ncbi_uid=3441">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0008626[DISCUI]&test_type=Research" ref="ncbi_uid=3441">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/3441" ref="tree=GTR&ncbi_uid=3441&link_uid=3441" title="View MedGen record for 'Congenital chromosomal disease'">Congenital chromosomal disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1843454" ref="tree=GTR&ncbi_uid=1843454&link_uid=1843454" title="View MedGen record for 'Autosomal anomaly'">Autosomal anomaly</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN293936[DISCUI]&test_type=Clinical" ref="ncbi_uid=977694">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/977694" ref="tree=GTR&ncbi_uid=977694&link_uid=977694" title="View MedGen record for 'Autosomal monosomy'">Autosomal monosomy</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0035639[DISCUI]&test_type=Clinical" ref="ncbi_uid=11248">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Ring chromosome</span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0969687[DISCUI]&test_type=Clinical" ref="ncbi_uid=199033">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0969687[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=199033">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/199033" ref="tree=GTR&ncbi_uid=199033&link_uid=199033" title="View MedGen record for 'Autosomal chromosomal disorder'">Autosomal chromosomal disorder</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0795849[DISCUI]&test_type=Clinical" ref="ncbi_uid=162780">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/162780" ref="tree=GTR&ncbi_uid=162780&link_uid=162780" title="View MedGen record for 'Chromosome 13q trisomy'">Chromosome 13q trisomy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0795807[DISCUI]&test_type=Clinical" ref="ncbi_uid=167068">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/167068" ref="tree=GTR&ncbi_uid=167068&link_uid=167068" title="View MedGen record for 'Chromosome 3, trisomy 3p'">Chromosome 3, trisomy 3p</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931575[DISCUI]&test_type=Clinical" ref="ncbi_uid=419839">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/419839" ref="tree=GTR&ncbi_uid=419839&link_uid=419839" title="View MedGen record for 'Chromosome 5, trisomy 5p'">Chromosome 5, trisomy 5p</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0152095[DISCUI]&test_type=Clinical" ref="ncbi_uid=56261">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=56261" ref="ncbi_uid=56261">V</a></span></span><span class="TLline"><a href="/medgen/56261" ref="tree=GTR&ncbi_uid=56261&link_uid=56261" title="View MedGen record for 'Complete trisomy 13 syndrome'">Complete trisomy 13 syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265479[DISCUI]&test_type=Clinical" ref="ncbi_uid=120542">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/120542" ref="tree=GTR&ncbi_uid=120542&link_uid=120542" title="View MedGen record for 'Complete trisomy 20 syndrome'">Complete trisomy 20 syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0013080[DISCUI]&test_type=Clinical" ref="ncbi_uid=4385">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0013080[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=4385">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=4385" target="_blank" href="/omim/190685">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=4385" ref="ncbi_uid=4385">V</a></span></span><span class="TLline"><a href="/medgen/4385" ref="tree=GTR&ncbi_uid=4385&link_uid=4385" title="View MedGen record for 'Down syndrome'">Down syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/693553" ref="tree=GTR&ncbi_uid=693553&link_uid=693553" title="View MedGen record for 'Translocation Down syndrome'">Translocation Down syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/760825" ref="tree=GTR&ncbi_uid=760825&link_uid=760825" title="View MedGen record for 'Trisomy 21'">Trisomy 21</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0432412[DISCUI]&test_type=Clinical" ref="ncbi_uid=98158">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/98158" ref="tree=GTR&ncbi_uid=98158&link_uid=98158" title="View MedGen record for 'Trisomy 8'">Trisomy 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4317091[DISCUI]&test_type=Clinical" ref="ncbi_uid=1384417">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1384417" ref="ncbi_uid=1384417">V</a></span></span><span class="TLline"><a href="/medgen/1384417" ref="tree=GTR&ncbi_uid=1384417&link_uid=1384417" title="View MedGen record for 'Trisomy 18'">Trisomy 18</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/988614" ref="tree=GTR&ncbi_uid=988614&link_uid=988614" title="View MedGen record for 'Ring chromosome anomaly'">Ring chromosome anomaly</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0949683[DISCUI]&test_type=Clinical" ref="ncbi_uid=183658">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/183658" ref="tree=GTR&ncbi_uid=183658&link_uid=183658" title="View MedGen record for 'Sex-linked hereditary disorder'">Sex-linked hereditary disorder</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/871309" ref="tree=MeSH" title="MedGen record for Abnormality of prenatal development or birth">Abnormality of prenatal development or birth</a></span><ul><li><span class="TLline"><a href="/medgen/1254" ref="tree=MeSH" title="MedGen record for Fetal anomaly">Fetal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/3441" ref="tree=MeSH" title="MedGen record for Congenital chromosomal disease">Congenital chromosomal disease</a></span><ul><li><span class="TLline"><a href="/medgen/1843454" ref="tree=MeSH" title="MedGen record for Autosomal anomaly">Autosomal anomaly</a></span><ul><li><span class="TLline"><a href="/medgen/977694" ref="tree=MeSH" title="MedGen record for Autosomal monosomy">Autosomal monosomy</a></span><ul><li><span class="matched_ds">Ring chromosome</span><ul><li><span class="TLline"><a href="/medgen/895673" ref="tree=MeSH" title="MedGen record for Chromosome 8-derived supernumerary ring/marker">Chromosome 8-derived supernumerary ring/marker</a></span></li><li><span class="TLline"><a href="/medgen/274178" ref="tree=MeSH" title="MedGen record for Ring Chromosome 1">Ring Chromosome 1</a></span></li><li><span class="TLline"><a href="/medgen/539215" ref="tree=MeSH" title="MedGen record for Ring chromosome 1">Ring chromosome 1</a></span></li><li><span class="TLline"><a href="/medgen/1642621" ref="tree=MeSH" title="MedGen record for Ring chromosome 2">Ring chromosome 2</a></span></li><li><span class="TLline"><a href="/medgen/1643677" ref="tree=MeSH" title="MedGen record for Ring chromosome 3">Ring chromosome 3</a></span></li><li><span class="TLline"><a href="/medgen/881956" ref="tree=MeSH" title="MedGen record for Ring chromosome 5">Ring chromosome 5</a></span></li><li><span class="TLline"><a href="/medgen/167069" ref="tree=MeSH" title="MedGen record for Ring chromosome 6">Ring chromosome 6</a></span></li><li><span class="TLline"><a href="/medgen/419454" ref="tree=MeSH" title="MedGen record for Ring chromosome 7">Ring chromosome 7</a></span></li><li><span class="TLline"><a href="/medgen/539244" ref="tree=MeSH" title="MedGen record for Ring chromosome 9">Ring chromosome 9</a></span></li><li><span class="TLline"><a href="/medgen/539252" ref="tree=MeSH" title="MedGen record for Ring chromosome 10">Ring chromosome 10</a></span></li><li><span class="TLline"><a href="/medgen/539256" ref="tree=MeSH" title="MedGen record for Ring chromosome 11">Ring chromosome 11</a></span></li><li><span class="TLline"><a href="/medgen/162879" ref="tree=MeSH" title="MedGen record for Ring chromosome 12">Ring chromosome 12</a></span></li><li><span class="TLline"><a href="/medgen/444146" ref="tree=MeSH" title="MedGen record for Ring chromosome 13">Ring chromosome 13</a></span></li><li><span class="TLline"><a href="/medgen/419284" ref="tree=MeSH" title="MedGen record for Ring chromosome 14">Ring chromosome 14</a></span></li><li><span class="TLline"><a href="/medgen/1646359" ref="tree=MeSH" title="MedGen record for Ring chromosome 15">Ring chromosome 15</a></span></li><li><span class="TLline"><a href="/medgen/1641955" ref="tree=MeSH" title="MedGen record for Ring chromosome 16">Ring chromosome 16</a></span></li><li><span class="TLline"><a href="/medgen/419477" ref="tree=MeSH" title="MedGen record for Ring chromosome 17">Ring chromosome 17</a></span></li><li><span class="TLline"><a href="/medgen/539285" ref="tree=MeSH" title="MedGen record for Ring chromosome 18">Ring chromosome 18</a></span></li><li><span class="TLline"><a href="/medgen/419501" ref="tree=MeSH" title="MedGen record for Ring chromosome 19">Ring chromosome 19</a></span></li><li><span class="TLline"><a href="/medgen/489853" ref="tree=MeSH" title="MedGen record for Ring chromosome 20 syndrome">Ring chromosome 20 syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419409" ref="tree=MeSH" title="MedGen record for Ring chromosome 21">Ring chromosome 21</a></span></li><li><span class="TLline"><a href="/medgen/539299" ref="tree=MeSH" title="MedGen record for Ring chromosome 22">Ring chromosome 22</a></span></li><li><span class="TLline"><a href="/medgen/75571" ref="tree=MeSH" title="MedGen record for Ring chromosome 4 syndrome">Ring chromosome 4 syndrome</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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|
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/38261030">Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alsubhi S,
|
||
Berrahmoune S,
|
||
Dudley RWR,
|
||
Dufresne D,
|
||
Simard Tremblay E,
|
||
Srour M,
|
||
Myers KA</span><br />
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||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 May;271(5):2503-2508.
|
||
Epub 2024 Jan 23
|
||
doi: 10.1007/s00415-023-12174-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38261030" target="_blank">38261030</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28399932">Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rinaldi B,
|
||
Vaisfeld A,
|
||
Amarri S,
|
||
Baldo C,
|
||
Gobbi G,
|
||
Magini P,
|
||
Melli E,
|
||
Neri G,
|
||
Novara F,
|
||
Pippucci T,
|
||
Rizzi R,
|
||
Soresina A,
|
||
Zampini L,
|
||
Zuffardi O,
|
||
Crimi M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2017 Apr 11;12(1):69.
|
||
doi: 10.1186/s13023-017-0606-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28399932" target="_blank">28399932</a><a href="/pmc/articles/PMC5387247" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25843339">Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaudano AE,
|
||
Ruggieri A,
|
||
Vignoli A,
|
||
Canevini MP,
|
||
Meletti S</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Behav</span>
|
||
2015 Apr;45:155-63.
|
||
Epub 2015 Apr 3
|
||
doi: 10.1016/j.yebeh.2015.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25843339" target="_blank">25843339</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ring%20chromosome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (14)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38261030">Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alsubhi S,
|
||
Berrahmoune S,
|
||
Dudley RWR,
|
||
Dufresne D,
|
||
Simard Tremblay E,
|
||
Srour M,
|
||
Myers KA</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2024 May;271(5):2503-2508.
|
||
Epub 2024 Jan 23
|
||
doi: 10.1007/s00415-023-12174-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38261030" target="_blank">38261030</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35821070">Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fiot E,
|
||
Alauze B,
|
||
Donadille B,
|
||
Samara-Boustani D,
|
||
Houang M,
|
||
De Filippo G,
|
||
Bachelot A,
|
||
Delcour C,
|
||
Beyler C,
|
||
Bois E,
|
||
Bourrat E,
|
||
Bui Quoc E,
|
||
Bourcigaux N,
|
||
Chaussain C,
|
||
Cohen A,
|
||
Cohen-Solal M,
|
||
Da Costa S,
|
||
Dossier C,
|
||
Ederhy S,
|
||
Elmaleh M,
|
||
Iserin L,
|
||
Lengliné H,
|
||
Poujol-Robert A,
|
||
Roulot D,
|
||
Viala J,
|
||
Albarel F,
|
||
Bismuth E,
|
||
Bernard V,
|
||
Bouvattier C,
|
||
Brac A,
|
||
Bretones P,
|
||
Chabbert-Buffet N,
|
||
Chanson P,
|
||
Coutant R,
|
||
de Warren M,
|
||
Demaret B,
|
||
Duranteau L,
|
||
Eustache F,
|
||
Gautheret L,
|
||
Gelwane G,
|
||
Gourbesville C,
|
||
Grynberg M,
|
||
Gueniche K,
|
||
Jorgensen C,
|
||
Kerlan V,
|
||
Lebrun C,
|
||
Lefevre C,
|
||
Lorenzini F,
|
||
Manouvrier S,
|
||
Pienkowski C,
|
||
Reynaud R,
|
||
Reznik Y,
|
||
Siffroi JP,
|
||
Tabet AC,
|
||
Tauber M,
|
||
Vautier V,
|
||
Tauveron I,
|
||
Wambre S,
|
||
Zenaty D,
|
||
Netchine I,
|
||
Polak M,
|
||
Touraine P,
|
||
Carel JC,
|
||
Christin-Maitre S,
|
||
Léger J</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Jul 12;17(Suppl 1):261.
|
||
doi: 10.1186/s13023-022-02423-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35821070" target="_blank">35821070</a><a href="/pmc/articles/PMC9277788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35303699">The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hajtovic S,
|
||
LoPresti MA,
|
||
Zhang L,
|
||
Katlowitz KA,
|
||
Kizek DJ,
|
||
Lam S</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
|
||
2022 Jun 1;29(6):667-680.
|
||
Epub 2022 Mar 18
|
||
doi: 10.3171/2022.1.PEDS222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35303699" target="_blank">35303699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26980640">Refractory and severe status epilepticus in a patient with ring chromosome 20 syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirano Y,
|
||
Oguni H,
|
||
Nagata S</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2016 Sep;38(8):746-9.
|
||
Epub 2016 Mar 12
|
||
doi: 10.1016/j.braindev.2016.02.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26980640" target="_blank">26980640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20888463">The diagnostic and clinical significance of café-au-lait macules.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah KN</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2010 Oct;57(5):1131-53.
|
||
doi: 10.1016/j.pcl.2010.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20888463" target="_blank">20888463</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ring%20chromosome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (140)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/35821070">Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fiot E,
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Alauze B,
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Donadille B,
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Samara-Boustani D,
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Houang M,
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De Filippo G,
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Bachelot A,
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Delcour C,
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Beyler C,
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Bois E,
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Bourrat E,
|
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Bui Quoc E,
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Bourcigaux N,
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Chaussain C,
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Cohen A,
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Cohen-Solal M,
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Da Costa S,
|
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Dossier C,
|
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Ederhy S,
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Elmaleh M,
|
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Iserin L,
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Lengliné H,
|
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Poujol-Robert A,
|
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Roulot D,
|
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Viala J,
|
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Albarel F,
|
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Bismuth E,
|
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Bernard V,
|
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Bouvattier C,
|
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Brac A,
|
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Bretones P,
|
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Chabbert-Buffet N,
|
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Chanson P,
|
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Coutant R,
|
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de Warren M,
|
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Demaret B,
|
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Duranteau L,
|
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Eustache F,
|
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Gautheret L,
|
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Gelwane G,
|
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Gourbesville C,
|
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Grynberg M,
|
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Gueniche K,
|
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Jorgensen C,
|
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Kerlan V,
|
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Lebrun C,
|
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Lefevre C,
|
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Lorenzini F,
|
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Manouvrier S,
|
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Pienkowski C,
|
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Reynaud R,
|
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Reznik Y,
|
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Siffroi JP,
|
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Tabet AC,
|
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Tauber M,
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Vautier V,
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Tauveron I,
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Wambre S,
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Zenaty D,
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Netchine I,
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Polak M,
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Touraine P,
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Carel JC,
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Christin-Maitre S,
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Léger J</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
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2022 Jul 12;17(Suppl 1):261.
|
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doi: 10.1186/s13023-022-02423-5.
|
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<span class="bold">PMID: </span><a href="/pubmed/35821070" target="_blank">35821070</a><a href="/pmc/articles/PMC9277788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/34237280">Optical genome mapping enables constitutional chromosomal aberration detection.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mantere T,
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2021 Aug 5;108(8):1409-1422.
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|
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<span class="bold">PMID: </span><a href="/pubmed/34237280" target="_blank">34237280</a><a href="/pmc/articles/PMC8387289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31831114">Café au Lait Macules and Associated Genetic Syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Anderson S</span><br />
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<span class="medgenPMjournal">J Pediatr Health Care</span>
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<span class="bold">PMID: </span><a href="/pubmed/31831114" target="_blank">31831114</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23933417">Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen CP,
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Tsai CH,
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Chern SR,
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Wu PS,
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Su JW,
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Lee CC,
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Chen YT,
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<span class="medgenPMjournal">Gene</span>
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2013 Oct 15;529(1):163-8.
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<span class="bold">PMID: </span><a href="/pubmed/23933417" target="_blank">23933417</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23933412">Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen CP,
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Chen M,
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Su YN,
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Huang JP,
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Chern SR,
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Wu PS,
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Su JW,
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Chang SP,
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Chen YT,
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Lee CC,
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Chen LF,
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Pan CW,
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Wang W</span><br />
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<span class="medgenPMjournal">Gene</span>
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2013 Oct 15;529(1):169-75.
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Epub 2013 Aug 7
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<span class="bold">PMID: </span><a href="/pubmed/23933412" target="_blank">23933412</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ring%20chromosome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (290)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35303699">The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hajtovic S,
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LoPresti MA,
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Zhang L,
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Katlowitz KA,
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Kizek DJ,
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Lam S</span><br />
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<span class="medgenPMjournal">J Neurosurg Pediatr</span>
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2022 Jun 1;29(6):667-680.
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Epub 2022 Mar 18
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|
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<span class="bold">PMID: </span><a href="/pubmed/35303699" target="_blank">35303699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35196643">Intravenous methylprednisolone is a potential add on therapy for Ring chromosome 20 syndrome.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Kishore VK,
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Viswanathan LG,
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Asranna A,
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Kenchiah R,
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Chowdary M R,
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Sinha S</span><br />
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<span class="medgenPMjournal">Seizure</span>
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2022 Mar;96:118-120.
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Epub 2022 Feb 5
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<span class="bold">PMID: </span><a href="/pubmed/35196643" target="_blank">35196643</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/26980640">Refractory and severe status epilepticus in a patient with ring chromosome 20 syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hirano Y,
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Oguni H,
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Nagata S</span><br />
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<span class="medgenPMjournal">Brain Dev</span>
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2016 Sep;38(8):746-9.
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Epub 2016 Mar 12
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<span class="bold">PMID: </span><a href="/pubmed/26980640" target="_blank">26980640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22424860">Ring chromosome 20 syndrome: electroclinical description of six patients and review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Elens I,
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Vanrykel K,
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De Waele L,
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Jansen K,
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Segeren M,
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Van Paesschen W,
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Ceulemans B,
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Boel M,
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Frijns JP,
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Buyse G,
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<span class="medgenPMjournal">Epilepsy Behav</span>
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2012 Apr;23(4):409-14.
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Epub 2012 Mar 15
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<span class="bold">PMID: </span><a href="/pubmed/22424860" target="_blank">22424860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15750171">Involvement of the basal ganglia in refractory epilepsy: an 18F-fluoro-L-DOPA PET study using 2 methods of analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouilleret V,
|
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Semah F,
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Biraben A,
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Taussig D,
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Chassoux F,
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Syrota A,
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Ribeiro MJ</span><br />
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<span class="medgenPMjournal">J Nucl Med</span>
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2005 Mar;46(3):540-7.
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<span class="bold">PMID: </span><a href="/pubmed/15750171" target="_blank">15750171</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ring%20chromosome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (47)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38795333">Population-based study of rare epilepsy incidence in a US urban population.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Barbour K,
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Tian N,
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Yozawitz EG,
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Wolf S,
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McGoldrick PE,
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Nelson A,
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Basma N,
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Grinspan ZM</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2024 Aug;65(8):2341-2353.
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Epub 2024 May 25
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|
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<span class="bold">PMID: </span><a href="/pubmed/38795333" target="_blank">38795333</a><a href="/pmc/articles/PMC11315636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38693679">I(123)-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Quintas S,
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Sanles-Falagan R,
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Berbís MÁ</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/38693679" target="_blank">38693679</a><a href="/pmc/articles/PMC11145110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26980640">Refractory and severe status epilepticus in a patient with ring chromosome 20 syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hirano Y,
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Oguni H,
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Nagata S</span><br />
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<span class="medgenPMjournal">Brain Dev</span>
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2016 Sep;38(8):746-9.
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Epub 2016 Mar 12
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doi: 10.1016/j.braindev.2016.02.013.
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<span class="bold">PMID: </span><a href="/pubmed/26980640" target="_blank">26980640</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18505557">Deletion 22q13.3 syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Phelan MC</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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<span class="bold">PMID: </span><a href="/pubmed/18505557" target="_blank">18505557</a><a href="/pmc/articles/PMC2427010" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15796967">Chromosome 7 abnormalities in acute megakaryoblastic leukemia associated with Down syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kobayashi K,
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Usami I,
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Kubota M,
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Nishio T,
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Kakazu N</span><br />
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<span class="medgenPMjournal">Cancer Genet Cytogenet</span>
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2005 Apr 15;158(2):184-7.
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|
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<span class="bold">PMID: </span><a href="/pubmed/15796967" target="_blank">15796967</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ring%20chromosome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (100)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35821070">Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fiot E,
|
||
Alauze B,
|
||
Donadille B,
|
||
Samara-Boustani D,
|
||
Houang M,
|
||
De Filippo G,
|
||
Bachelot A,
|
||
Delcour C,
|
||
Beyler C,
|
||
Bois E,
|
||
Bourrat E,
|
||
Bui Quoc E,
|
||
Bourcigaux N,
|
||
Chaussain C,
|
||
Cohen A,
|
||
Cohen-Solal M,
|
||
Da Costa S,
|
||
Dossier C,
|
||
Ederhy S,
|
||
Elmaleh M,
|
||
Iserin L,
|
||
Lengliné H,
|
||
Poujol-Robert A,
|
||
Roulot D,
|
||
Viala J,
|
||
Albarel F,
|
||
Bismuth E,
|
||
Bernard V,
|
||
Bouvattier C,
|
||
Brac A,
|
||
Bretones P,
|
||
Chabbert-Buffet N,
|
||
Chanson P,
|
||
Coutant R,
|
||
de Warren M,
|
||
Demaret B,
|
||
Duranteau L,
|
||
Eustache F,
|
||
Gautheret L,
|
||
Gelwane G,
|
||
Gourbesville C,
|
||
Grynberg M,
|
||
Gueniche K,
|
||
Jorgensen C,
|
||
Kerlan V,
|
||
Lebrun C,
|
||
Lefevre C,
|
||
Lorenzini F,
|
||
Manouvrier S,
|
||
Pienkowski C,
|
||
Reynaud R,
|
||
Reznik Y,
|
||
Siffroi JP,
|
||
Tabet AC,
|
||
Tauber M,
|
||
Vautier V,
|
||
Tauveron I,
|
||
Wambre S,
|
||
Zenaty D,
|
||
Netchine I,
|
||
Polak M,
|
||
Touraine P,
|
||
Carel JC,
|
||
Christin-Maitre S,
|
||
Léger J</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Jul 12;17(Suppl 1):261.
|
||
doi: 10.1186/s13023-022-02423-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35821070" target="_blank">35821070</a><a href="/pmc/articles/PMC9277788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/22406087">Ring chromosome 20.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Daber RD,
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Conlin LK,
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Leonard LD,
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Canevini MP,
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Vignoli A,
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<span class="medgenPMjournal">Eur J Med Genet</span>
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<span class="bold">PMID: </span><a href="/pubmed/22406087" target="_blank">22406087</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20026586">Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Letsolo BT,
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<div class="nl"><a target="_blank" href="/pubmed/15750171">Involvement of the basal ganglia in refractory epilepsy: an 18F-fluoro-L-DOPA PET study using 2 methods of analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bouilleret V,
|
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Semah F,
|
||
Biraben A,
|
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Taussig D,
|
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Chassoux F,
|
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Syrota A,
|
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Ribeiro MJ</span><br />
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<span class="medgenPMjournal">J Nucl Med</span>
|
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2005 Mar;46(3):540-7.
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<span class="bold">PMID: </span><a href="/pubmed/15750171" target="_blank">15750171</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1381884">Ring chromosome 17. Case report and review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Teyssier M,
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Charrin C,
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Corgiolu Theuil G,
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<span class="bold">PMID: </span><a href="/pubmed/1381884" target="_blank">1381884</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ring%20chromosome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (176)</a></div></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_104">
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/38693679">I(123)-FP-CIT (DaTSCAN) SPECT beyond the Most Common Causes of Parkinsonism: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quintas S,
|
||
Sanles-Falagan R,
|
||
Berbís MÁ</span><br />
|
||
<span class="medgenPMjournal">Mov Disord Clin Pract</span>
|
||
2024 Jun;11(6):613-625.
|
||
Epub 2024 May 1
|
||
doi: 10.1002/mdc3.14055.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38693679" target="_blank">38693679</a><a href="/pmc/articles/PMC11145110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37531800">Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial effect in neurodevelopment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wannes S,
|
||
El Ahmer I,
|
||
Rjiba K,
|
||
Jemmali N,
|
||
Abdallah HH,
|
||
Haj RB,
|
||
Achour A,
|
||
Bouzidi H,
|
||
Saad A,
|
||
Mougou S,
|
||
Mahjoub B</span><br />
|
||
<span class="medgenPMjournal">Growth Horm IGF Res</span>
|
||
2023 Aug;71:101550.
|
||
Epub 2023 Jul 25
|
||
doi: 10.1016/j.ghir.2023.101550.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37531800" target="_blank">37531800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35750988">Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamashita H,
|
||
Arakawa Y,
|
||
Terada Y,
|
||
Takeuchi Y,
|
||
Mineharu Y,
|
||
Sumiyoshi S,
|
||
Tokunaga S,
|
||
Nakajima K,
|
||
Kawabata N,
|
||
Tanaka K,
|
||
Tanji M,
|
||
Umeda K,
|
||
Minamiguchi S,
|
||
Ogawa S,
|
||
Haga H,
|
||
Takita J,
|
||
Miyamoto S</span><br />
|
||
<span class="medgenPMjournal">Brain Tumor Pathol</span>
|
||
2022 Oct;39(4):232-239.
|
||
Epub 2022 Jun 24
|
||
doi: 10.1007/s10014-022-00440-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35750988" target="_blank">35750988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35303699">The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hajtovic S,
|
||
LoPresti MA,
|
||
Zhang L,
|
||
Katlowitz KA,
|
||
Kizek DJ,
|
||
Lam S</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Pediatr</span>
|
||
2022 Jun 1;29(6):667-680.
|
||
Epub 2022 Mar 18
|
||
doi: 10.3171/2022.1.PEDS222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35303699" target="_blank">35303699</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ring%20chromosome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0035639%5bDISCUI%5d&filter=method%3A3%5F32" target="_blank">Karyotyping (8)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0035639%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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