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<!--
|
||
UID=1826135
|
||
ConceptID=C5681834
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Angelman syndrome due to imprinting defect in 15q11-q13</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1826135</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.">C5681834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018462" target="_blank">MONDO:0018462</a></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=411515">ORPHA411515</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_118">
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<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5681834[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1826135">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">Angelman syndrome due to imprinting defect in 15q11-q13</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842751" ref="tree=MeSH" title="MedGen record for Chromosomal anomaly with epilepsy as a major feature">Chromosomal anomaly with epilepsy as a major feature</a></span><ul><li><span class="TLline"><a href="/medgen/58144" ref="tree=MeSH" title="MedGen record for Angelman syndrome">Angelman syndrome</a></span><ul><li><span class="matched_ds">Angelman syndrome due to imprinting defect in 15q11-q13</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34203304">Genotype-Phenotype Correlations in Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Shu X,
|
||
Mao S,
|
||
Wang Y,
|
||
Du X,
|
||
Zou C</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Jun 28;12(7)
|
||
doi: 10.3390/genes12070987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34203304" target="_blank">34203304</a><a href="/pmc/articles/PMC8304328" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32792659">Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keute M,
|
||
Miller MT,
|
||
Krishnan ML,
|
||
Sadhwani A,
|
||
Chamberlain S,
|
||
Thibert RL,
|
||
Tan WH,
|
||
Bird LM,
|
||
Hipp JF</span><br />
|
||
<span class="medgenPMjournal">Mol Psychiatry</span>
|
||
2021 Jul;26(7):3625-3633.
|
||
Epub 2020 Aug 13
|
||
doi: 10.1038/s41380-020-0858-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32792659" target="_blank">32792659</a><a href="/pmc/articles/PMC8505254" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9557895">Genetic counseling in Angelman syndrome: the challenges of multiple causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stalker HJ,
|
||
Williams CA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1998 Apr 28;77(1):54-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9557895" target="_blank">9557895</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(angelman%20syndrome%20due%20to%20imprinting%20defect%20in%2015q11-q13)%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 (10)</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/38837660">Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmok T,
|
||
Surampalli A,
|
||
Khare M,
|
||
Zandihaghighi S,
|
||
Baghbaninogourani R,
|
||
Patolia B,
|
||
Gold JA,
|
||
Naidu A,
|
||
Cassidy SB,
|
||
Kimonis VE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Oct;194(10):e63724.
|
||
Epub 2024 Jun 4
|
||
doi: 10.1002/ajmg.a.63724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38837660" target="_blank">38837660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34374352">Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim B,
|
||
Park Y,
|
||
Cho SI,
|
||
Kim MJ,
|
||
Chae JH,
|
||
Kim JY,
|
||
Seong MW,
|
||
Park SS</span><br />
|
||
<span class="medgenPMjournal">Ann Lab Med</span>
|
||
2022 Jan 1;42(1):79-88.
|
||
doi: 10.3343/alm.2022.42.1.79.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34374352" target="_blank">34374352</a><a href="/pmc/articles/PMC8368237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34675349">Investigation of age-related facial variation among Angelman syndrome patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Agbolade O,
|
||
Nazri A,
|
||
Yaakob R,
|
||
Ghani AA,
|
||
Cheah YK</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2021 Oct 21;11(1):20767.
|
||
doi: 10.1038/s41598-021-99944-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34675349" target="_blank">34675349</a><a href="/pmc/articles/PMC8531312" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15385437">Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nazlican H,
|
||
Zeschnigk M,
|
||
Claussen U,
|
||
Michel S,
|
||
Boehringer S,
|
||
Gillessen-Kaesbach G,
|
||
Buiting K,
|
||
Horsthemke B</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2004 Nov 1;13(21):2547-55.
|
||
Epub 2004 Sep 22
|
||
doi: 10.1093/hmg/ddh296.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15385437" target="_blank">15385437</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9557895">Genetic counseling in Angelman syndrome: the challenges of multiple causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stalker HJ,
|
||
Williams CA</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1998 Apr 28;77(1):54-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9557895" target="_blank">9557895</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Angelman%20syndrome%20due%20to%20imprinting%20defect%20in%2015q11-q13%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34203304">Genotype-Phenotype Correlations in Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Shu X,
|
||
Mao S,
|
||
Wang Y,
|
||
Du X,
|
||
Zou C</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Jun 28;12(7)
|
||
doi: 10.3390/genes12070987.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34203304" target="_blank">34203304</a><a href="/pmc/articles/PMC8304328" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32961075">Prader-Willi syndrome: reflections on seminal studies and future therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chung MS,
|
||
Langouët M,
|
||
Chamberlain SJ,
|
||
Carmichael GG</span><br />
|
||
<span class="medgenPMjournal">Open Biol</span>
|
||
2020 Sep;10(9):200195.
|
||
Epub 2020 Sep 23
|
||
doi: 10.1098/rsob.200195.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32961075" target="_blank">32961075</a><a href="/pmc/articles/PMC7536080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28387067">Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butler MG</span><br />
|
||
<span class="medgenPMjournal">J Intellect Disabil Res</span>
|
||
2017 Jun;61(6):568-579.
|
||
Epub 2017 Apr 7
|
||
doi: 10.1111/jir.12382.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28387067" target="_blank">28387067</a><a href="/pmc/articles/PMC5464369" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26062517">Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Angulo MA,
|
||
Butler MG,
|
||
Cataletto ME</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2015 Dec;38(12):1249-63.
|
||
Epub 2015 Jun 11
|
||
doi: 10.1007/s40618-015-0312-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26062517" target="_blank">26062517</a><a href="/pmc/articles/PMC4630255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26040994">Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margolis SS,
|
||
Sell GL,
|
||
Zbinden MA,
|
||
Bird LM</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2015 Jul;12(3):641-50.
|
||
doi: 10.1007/s13311-015-0361-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26040994" target="_blank">26040994</a><a href="/pmc/articles/PMC4489961" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Angelman%20syndrome%20due%20to%20imprinting%20defect%20in%2015q11-q13%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 (30)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38837660">Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmok T,
|
||
Surampalli A,
|
||
Khare M,
|
||
Zandihaghighi S,
|
||
Baghbaninogourani R,
|
||
Patolia B,
|
||
Gold JA,
|
||
Naidu A,
|
||
Cassidy SB,
|
||
Kimonis VE</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Oct;194(10):e63724.
|
||
Epub 2024 Jun 4
|
||
doi: 10.1002/ajmg.a.63724.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38837660" target="_blank">38837660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31640736">A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han J,
|
||
Bichell TJ,
|
||
Golden S,
|
||
Anselm I,
|
||
Waisbren S,
|
||
Bacino CA,
|
||
Peters SU,
|
||
Bird LM,
|
||
Kimonis V</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Oct 22;14(1):232.
|
||
doi: 10.1186/s13023-019-1216-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31640736" target="_blank">31640736</a><a href="/pmc/articles/PMC6806546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26040994">Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margolis SS,
|
||
Sell GL,
|
||
Zbinden MA,
|
||
Bird LM</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2015 Jul;12(3):641-50.
|
||
doi: 10.1007/s13311-015-0361-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26040994" target="_blank">26040994</a><a href="/pmc/articles/PMC4489961" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17347796">Molecular epigenetics of Angelman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lalande M,
|
||
Calciano MA</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2007 Apr;64(7-8):947-60.
|
||
doi: 10.1007/s00018-007-6460-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17347796" target="_blank">17347796</a><a href="/pmc/articles/PMC11136005" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15741136">Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galván-Manso M,
|
||
Campistol J,
|
||
Conill J,
|
||
Sanmartí FX</span><br />
|
||
<span class="medgenPMjournal">Epileptic Disord</span>
|
||
2005 Mar;7(1):19-25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15741136" target="_blank">15741136</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Angelman%20syndrome%20due%20to%20imprinting%20defect%20in%2015q11-q13%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28898887">Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ververi A,
|
||
Islam L,
|
||
Bewes B,
|
||
Busby L,
|
||
Sullivan C,
|
||
Canham N</span><br />
|
||
<span class="medgenPMjournal">Cytogenet Genome Res</span>
|
||
2017;152(3):132-136.
|
||
Epub 2017 Sep 13
|
||
doi: 10.1159/000480030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28898887" target="_blank">28898887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28211971">Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Fevre A,
|
||
Beygo J,
|
||
Silveira C,
|
||
Kamien B,
|
||
Clayton-Smith J,
|
||
Colley A,
|
||
Buiting K,
|
||
Dudding-Byth T</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 Mar;173(3):753-757.
|
||
doi: 10.1002/ajmg.a.38072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28211971" target="_blank">28211971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11044469">Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manning M,
|
||
Lissens W,
|
||
Bonduelle M,
|
||
Camus M,
|
||
De Rijcke M,
|
||
Liebaers I,
|
||
Van Steirteghem A</span><br />
|
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<span class="medgenPMjournal">Mol Hum Reprod</span>
|
||
2000 Nov;6(11):1049-53.
|
||
doi: 10.1093/molehr/6.11.1049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11044469" target="_blank">11044469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9887341">The spectrum of mutations in UBE3A causing Angelman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang P,
|
||
Lev-Lehman E,
|
||
Tsai TF,
|
||
Matsuura T,
|
||
Benton CS,
|
||
Sutcliffe JS,
|
||
Christian SL,
|
||
Kubota T,
|
||
Halley DJ,
|
||
Meijers-Heijboer H,
|
||
Langlois S,
|
||
Graham JM Jr,
|
||
Beuten J,
|
||
Willems PJ,
|
||
Ledbetter DH,
|
||
Beaudet AL</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1999 Jan;8(1):129-35.
|
||
doi: 10.1093/hmg/8.1.129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9887341" target="_blank">9887341</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9585605">Mutation analysis of UBE3A in Angelman syndrome patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malzac P,
|
||
Webber H,
|
||
Moncla A,
|
||
Graham JM,
|
||
Kukolich M,
|
||
Williams C,
|
||
Pagon RA,
|
||
Ramsdell LA,
|
||
Kishino T,
|
||
Wagstaff J</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1998 Jun;62(6):1353-60.
|
||
doi: 10.1086/301877.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9585605" target="_blank">9585605</a><a href="/pmc/articles/PMC1377156" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Angelman%20syndrome%20due%20to%20imprinting%20defect%20in%2015q11-q13%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 (6)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32961075">Prader-Willi syndrome: reflections on seminal studies and future therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chung MS,
|
||
Langouët M,
|
||
Chamberlain SJ,
|
||
Carmichael GG</span><br />
|
||
<span class="medgenPMjournal">Open Biol</span>
|
||
2020 Sep;10(9):200195.
|
||
Epub 2020 Sep 23
|
||
doi: 10.1098/rsob.200195.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32961075" target="_blank">32961075</a><a href="/pmc/articles/PMC7536080" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10424818">Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moncla A,
|
||
Malzac P,
|
||
Livet MO,
|
||
Voelckel MA,
|
||
Mancini J,
|
||
Delaroziere JC,
|
||
Philip N,
|
||
Mattei JF</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1999 Jul;36(7):554-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10424818" target="_blank">10424818</a><a href="/pmc/articles/PMC1734398" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9887341">The spectrum of mutations in UBE3A causing Angelman syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang P,
|
||
Lev-Lehman E,
|
||
Tsai TF,
|
||
Matsuura T,
|
||
Benton CS,
|
||
Sutcliffe JS,
|
||
Christian SL,
|
||
Kubota T,
|
||
Halley DJ,
|
||
Meijers-Heijboer H,
|
||
Langlois S,
|
||
Graham JM Jr,
|
||
Beuten J,
|
||
Willems PJ,
|
||
Ledbetter DH,
|
||
Beaudet AL</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1999 Jan;8(1):129-35.
|
||
doi: 10.1093/hmg/8.1.129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9887341" target="_blank">9887341</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9585605">Mutation analysis of UBE3A in Angelman syndrome patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malzac P,
|
||
Webber H,
|
||
Moncla A,
|
||
Graham JM,
|
||
Kukolich M,
|
||
Williams C,
|
||
Pagon RA,
|
||
Ramsdell LA,
|
||
Kishino T,
|
||
Wagstaff J</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1998 Jun;62(6):1353-60.
|
||
doi: 10.1086/301877.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9585605" target="_blank">9585605</a><a href="/pmc/articles/PMC1377156" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2309781">Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams CA,
|
||
Zori RT,
|
||
Stone JW,
|
||
Gray BA,
|
||
Cantu ES,
|
||
Ostrer H</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1990 Mar;35(3):350-3.
|
||
doi: 10.1002/ajmg.1320350308.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2309781" target="_blank">2309781</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Angelman%20syndrome%20due%20to%20imprinting%20defect%20in%2015q11-q13%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 (10)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5681834%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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