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<meta name="keywords" content="C4540470, autosomal dominant intellectual disability 50, autosomal dominant mental retardation 50, intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, intellectual developmental disorder, autosomal dominant 50, with behavioural abnormalities, intellectual disability, autosomal dominant 50, mental or behavioral dysfunction, mental retardation, autosomal dominant 50, mrd50, naa15, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities (MRD50) is characterized by variable levels of impaired intellectual development, delayed speech and motor milestones, and behavioral abnormalities, most commonly autism spectrum disorder (ASD). Some patients may also have mild craniofacial dysmorphism, congenital cardiac anomalies, or seizures (summary by Cheng et al., 2019)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1616989
|
||
ConceptID=C4540470
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intellectual disability, autosomal dominant 50<span class="h1sub">(MRD50)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1616989</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."><span class="highlight" style="background-color:">C4540470</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES; MENTAL RETARDATION, AUTOSOMAL DOMINANT 50</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="NAA15 - ID: 80155 - NCBI Gene" href="/gene/80155" class="medgenPMinfo">NAA15</a> (4q31.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030916" target="_blank">MONDO:0030916</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617787" target="_blank">617787</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">Autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities (MRD50) is characterized by variable levels of impaired intellectual development, delayed speech and motor milestones, and behavioral abnormalities, most commonly autism spectrum disorder (ASD). Some patients may also have mild craniofacial dysmorphism, congenital cardiac anomalies, or seizures (summary by Cheng et al., 2019). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21318"><div><strong>Motor stereotypies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21318</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.">C0038271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Individual Behavior</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Motor%20stereotypies%22%5BClinical%20Features%5D%20OR%2021318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163547"><div><strong>Autistic behavior</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163547</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.">C0856975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163547">Feature record</a> | <a href="/medgen?term=%22Autistic%20behavior%22%5BClinical%20Features%5D%20OR%20163547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autistic behavior</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor stereotypies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li></ul></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/37183190">Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Onofrio G,
|
||
Accogli A,
|
||
Severino M,
|
||
Caliskan H,
|
||
Kokotović T,
|
||
Blazekovic A,
|
||
Jercic KG,
|
||
Markovic S,
|
||
Zigman T,
|
||
Goran K,
|
||
Barišić N,
|
||
Duranovic V,
|
||
Ban A,
|
||
Borovecki F,
|
||
Ramadža DP,
|
||
Barić I,
|
||
Fazeli W,
|
||
Herkenrath P,
|
||
Marini C,
|
||
Vittorini R,
|
||
Gowda V,
|
||
Bouman A,
|
||
Rocca C,
|
||
Alkhawaja IA,
|
||
Murtaza BN,
|
||
Rehman MMU,
|
||
Al Alam C,
|
||
Nader G,
|
||
Mancardi MM,
|
||
Giacomini T,
|
||
Srivastava S,
|
||
Alvi JR,
|
||
Tomoum H,
|
||
Matricardi S,
|
||
Iacomino M,
|
||
Riva A,
|
||
Scala M,
|
||
Madia F,
|
||
Pistorio A,
|
||
Salpietro V,
|
||
Minetti C,
|
||
Rivière JB,
|
||
Srour M,
|
||
Efthymiou S,
|
||
Maroofian R,
|
||
Houlden H,
|
||
Vernes SC,
|
||
Zara F,
|
||
Striano P,
|
||
Nagy V</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2023 Jul;142(7):909-925.
|
||
Epub 2023 May 14
|
||
doi: 10.1007/s00439-023-02552-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37183190" target="_blank">37183190</a><a href="/pmc/articles/PMC10329570" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16163268">Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riveiro-Alvarez R,
|
||
Trujillo-Tiebas MJ,
|
||
Gimenez-Pardo A,
|
||
Garcia-Hoyos M,
|
||
Cantalapiedra D,
|
||
Lorda-Sanchez I,
|
||
Rodriguez de Alba M,
|
||
Ramos C,
|
||
Ayuso C</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2005 Sep 2;11:705-12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16163268" target="_blank">16163268</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(intellectual%20disability%2C%20autosomal%20dominant%2050)%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 (2)</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/39336782">Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arrabito M,
|
||
Li Volsi N,
|
||
La Rosa M,
|
||
Samperi P,
|
||
Pulvirenti G,
|
||
Cannata E,
|
||
Russo G,
|
||
Di Cataldo A,
|
||
Lo Nigro L</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2024 Sep 10;15(9)
|
||
doi: 10.3390/genes15091191.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39336782" target="_blank">39336782</a><a href="/pmc/articles/PMC11431238" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34068396">Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tenorio-Castaño J,
|
||
Morte B,
|
||
Nevado J,
|
||
Martinez-Glez V,
|
||
Santos-Simarro F,
|
||
García-Miñaúr S,
|
||
Palomares-Bralo M,
|
||
Pacio-Míguez M,
|
||
Gómez B,
|
||
Arias P,
|
||
Alcochea A,
|
||
Carrión J,
|
||
Arias P,
|
||
Almoguera B,
|
||
López-Grondona F,
|
||
Lorda-Sanchez I,
|
||
Galán-Gómez E,
|
||
Valenzuela I,
|
||
Méndez Perez MP,
|
||
Cuscó I,
|
||
Barros F,
|
||
Pié J,
|
||
Ramos S,
|
||
Ramos FJ,
|
||
Kuechler A,
|
||
Tizzano E,
|
||
Ayuso C,
|
||
Kaiser FJ,
|
||
Pérez-Jurado LA,
|
||
Carracedo Á,
|
||
The ENoD-Ciberer Consortium,
|
||
The Side Consortium,
|
||
Lapunzina P</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 May 13;12(5)
|
||
doi: 10.3390/genes12050738.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34068396" target="_blank">34068396</a><a href="/pmc/articles/PMC8153584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10957683">The genetics of Alzheimer disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steele CD</span><br />
|
||
<span class="medgenPMjournal">Nurs Clin North Am</span>
|
||
2000 Sep;35(3):687-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10957683" target="_blank">10957683</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2118780">Etiology and recurrence risk in Rubinstein-Taybi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hennekam RC,
|
||
Stevens CA,
|
||
Van de Kamp JJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet Suppl</span>
|
||
1990;6:56-64.
|
||
doi: 10.1002/ajmg.1320370610.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2118780" target="_blank">2118780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/393614">Genetics of retinoblastoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vogel F</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
1979 Nov 1;52(1):1-54.
|
||
doi: 10.1007/BF00284597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/393614" target="_blank">393614</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2050%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 (23)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34374989">Spectrum of neuro-genetic disorders in the United Arab Emirates national population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saleh S,
|
||
Beyyumi E,
|
||
Al Kaabi A,
|
||
Hertecant J,
|
||
Barakat D,
|
||
Al Dhaheri NS,
|
||
Al-Gazali L,
|
||
Al Shamsi A</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Nov;100(5):573-600.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1111/cge.14044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34374989" target="_blank">34374989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32593336">Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortea J,
|
||
Vilaplana E,
|
||
Carmona-Iragui M,
|
||
Benejam B,
|
||
Videla L,
|
||
Barroeta I,
|
||
Fernández S,
|
||
Altuna M,
|
||
Pegueroles J,
|
||
Montal V,
|
||
Valldeneu S,
|
||
Giménez S,
|
||
González-Ortiz S,
|
||
Muñoz L,
|
||
Estellés T,
|
||
Illán-Gala I,
|
||
Belbin O,
|
||
Camacho V,
|
||
Wilson LR,
|
||
Annus T,
|
||
Osorio RS,
|
||
Videla S,
|
||
Lehmann S,
|
||
Holland AJ,
|
||
Alcolea D,
|
||
Clarimón J,
|
||
Zaman SH,
|
||
Blesa R,
|
||
Lleó A</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2020 Jun 27;395(10242):1988-1997.
|
||
doi: 10.1016/S0140-6736(20)30689-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32593336" target="_blank">32593336</a><a href="/pmc/articles/PMC7322523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32222129">Tuberous sclerosis: a review of the past, present, and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uysal SP,
|
||
Şahin M</span><br />
|
||
<span class="medgenPMjournal">Turk J Med Sci</span>
|
||
2020 Nov 3;50(SI-2):1665-1676.
|
||
doi: 10.3906/sag-2002-133.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32222129" target="_blank">32222129</a><a href="/pmc/articles/PMC7672342" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17223397">Posterior helical pits.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prescott TE,
|
||
Hennekam RC</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Genet</span>
|
||
2007 Mar-Apr;50(2):159-61.
|
||
Epub 2006 Nov 30
|
||
doi: 10.1016/j.ejmg.2006.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17223397" target="_blank">17223397</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/8484403">Segregation analysis of rare autosomal folate sensitive fragile sites.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Samadder P,
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Evans JA,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2050%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>
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<div class="nl"><a target="_blank" href="/pubmed/32593336">Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.</a></div>
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Pegueroles J,
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Montal V,
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Valldeneu S,
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Giménez S,
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González-Ortiz S,
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Muñoz L,
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Estellés T,
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Illán-Gala I,
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Belbin O,
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Camacho V,
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Wilson LR,
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Annus T,
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Osorio RS,
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Videla S,
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Lehmann S,
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Holland AJ,
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Alcolea D,
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Clarimón J,
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Blesa R,
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<span class="bold">PMID: </span><a href="/pubmed/32593336" target="_blank">32593336</a><a href="/pmc/articles/PMC7322523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2050%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39336782">Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Arrabito M,
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Li Volsi N,
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La Rosa M,
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2024 Sep 10;15(9)
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<div class="nl"><a target="_blank" href="/pubmed/37525067">A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li N,
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Kang H,
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Zou Y,
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Liu Z,
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Deng Y,
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Wang M,
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Li L,
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Qin H,
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Qiu X,
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Wang Y,
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Zhu J,
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Agostino M,
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<span class="medgenPMjournal">Neurogenetics</span>
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2023 Oct;24(4):251-262.
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Epub 2023 Jul 31
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<span class="bold">PMID: </span><a href="/pubmed/37525067" target="_blank">37525067</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32593336">Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fortea J,
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Vilaplana E,
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Carmona-Iragui M,
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Benejam B,
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Videla L,
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Barroeta I,
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Fernández S,
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Altuna M,
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Pegueroles J,
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Montal V,
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Valldeneu S,
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Giménez S,
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González-Ortiz S,
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Muñoz L,
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Estellés T,
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Illán-Gala I,
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Belbin O,
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Camacho V,
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Wilson LR,
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Annus T,
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Osorio RS,
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Videla S,
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Lehmann S,
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Holland AJ,
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Alcolea D,
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Clarimón J,
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Zaman SH,
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Blesa R,
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Lleó A</span><br />
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2020 Jun 27;395(10242):1988-1997.
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<span class="bold">PMID: </span><a href="/pubmed/32593336" target="_blank">32593336</a><a href="/pmc/articles/PMC7322523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28270230">Risk factors for the development of autism spectrum disorder in children with tuberous sclerosis complex: protocol for a systematic review.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/2118780">Etiology and recurrence risk in Rubinstein-Taybi syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hennekam RC,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2050%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>
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<div class="nl"><a target="_blank" href="/pubmed/35979925">CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pavinato L,
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Delle Vedove A,
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Carli D,
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van de Laar I,
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Au PYB,
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Di Gregorio E,
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Croci S,
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Bruno LP,
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Renieri A,
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Veltra D,
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Sofocleous C,
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Faivre L,
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Mazel B,
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Safraou H,
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Denommé-Pichon AS,
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van Slegtenhorst MA,
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Giesbertz N,
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Childers A,
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/32593336">Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fortea J,
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Vilaplana E,
|
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Carmona-Iragui M,
|
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Benejam B,
|
||
Videla L,
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||
Barroeta I,
|
||
Fernández S,
|
||
Altuna M,
|
||
Pegueroles J,
|
||
Montal V,
|
||
Valldeneu S,
|
||
Giménez S,
|
||
González-Ortiz S,
|
||
Muñoz L,
|
||
Estellés T,
|
||
Illán-Gala I,
|
||
Belbin O,
|
||
Camacho V,
|
||
Wilson LR,
|
||
Annus T,
|
||
Osorio RS,
|
||
Videla S,
|
||
Lehmann S,
|
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Holland AJ,
|
||
Alcolea D,
|
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Clarimón J,
|
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Zaman SH,
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Blesa R,
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Lleó A</span><br />
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<span class="medgenPMjournal">Lancet</span>
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2020 Jun 27;395(10242):1988-1997.
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doi: 10.1016/S0140-6736(20)30689-9.
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<span class="bold">PMID: </span><a href="/pubmed/32593336" target="_blank">32593336</a><a href="/pmc/articles/PMC7322523" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17223397">Posterior helical pits.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Prescott TE,
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<div class="portlet_content ln"><span class="medgenPMauthor">Strømme P,
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Sundet K,
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<div class="nl"><a target="_blank" href="/pubmed/393614">Genetics of retinoblastoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vogel F</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/393614" target="_blank">393614</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intellectual%20disability%2C%20autosomal%20dominant%2050%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 (17)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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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=C4540470%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
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<li><a href="/gtr/tests?term=C4540470%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
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<li><a href="/gtr/tests?term=C4540470%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4540470%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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