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<meta name="keywords" content="C0266449, brain malformation, brain malformations, congenital abnormality, congenital anomaly of brain, congenital brain anomaly, deformity of brain, non-syndromic brain malformation, non-syndromic cerebral malformation, 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="Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it''s a genetic problem. In other cases, exposure to certain medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, abnormally small or large, or not fully developed.CHAR(13) Treatment depends upon the problem. In many cases, treatment only helps with symptoms. It may include antiseizure medicines, shunts to drain fluid from the brain, and physical therapy.CHAR(13) There are head malformations that do not involve the brain. Craniofacial disorders are the result of abnormal growth of soft tissue and bones in the face and head. It''s common for new babies to have slightly uneven heads, but parents should watch the shape of their baby''s head for possible problems.CHAR(13) NIH: National Institute of Neurological Disorders and StrokeCHAR(13)" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=82742
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ConceptID=C0266449
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Brain malformation</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82742</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:">C0266449</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Brain malformations</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital brain anomaly (57148006); Congenital anomaly of brain (57148006); Deformity of brain (57148006)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>Orphanet:</td>
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||
<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=199633">ORPHA199633</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>
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<div class="portlet_content ln">Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it''s a genetic problem. In other cases, exposure to certain medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, abnormally small or large, or not fully developed.CHAR(13) Treatment depends upon the problem. In many cases, treatment only helps with symptoms. It may include antiseizure medicines, shunts to drain fluid from the brain, and physical therapy.CHAR(13) There are head malformations that do not involve the brain. Craniofacial disorders are the result of abnormal growth of soft tissue and bones in the face and head. It''s common for new babies to have slightly uneven heads, but parents should watch the shape of their baby''s head for possible problems.CHAR(13) NIH: National Institute of Neurological Disorders and StrokeCHAR(13) [from <a title="MedlinePlus Health Topics" href="http://www.nlm.nih.gov/medlineplus/healthtopics.html" class="defSource" target="_blank">MedlinePlus</a>]</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>
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<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=C0266449[DISCUI]&test_type=Clinical" ref="ncbi_uid=82742">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=82742" ref="ncbi_uid=82742">V</a></span></span><span class="TLline">Brain malformation</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Brain malformation</span><ul><li><span class="TLline"><a href="/medgen/104498" ref="tree=MeSH" title="MedGen record for Corpus callosum, agenesis of">Corpus callosum, agenesis of</a></span><ul><li><span class="TLline"><a href="/medgen/162915" ref="tree=MeSH" title="MedGen record for Acrocallosal syndrome">Acrocallosal syndrome</a></span></li><li><span class="TLline"><a href="/medgen/61236" ref="tree=MeSH" title="MedGen record for Aicardi syndrome">Aicardi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/38214" ref="tree=MeSH" title="MedGen record for Holoprosencephaly sequence">Holoprosencephaly sequence</a></span><ul><li><span class="TLline"><a href="/medgen/78541" ref="tree=MeSH" title="MedGen record for Agnathia-otocephaly complex">Agnathia-otocephaly complex</a></span></li><li><span class="TLline"><a href="/medgen/140909" ref="tree=MeSH" title="MedGen record for Alobar holoprosencephaly">Alobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/382704" ref="tree=MeSH" title="MedGen record for Chromosome 1q41-q42 deletion syndrome">Chromosome 1q41-q42 deletion syndrome</a></span></li><li><span class="TLline"><a href="/medgen/78617" ref="tree=MeSH" title="MedGen record for Cyclopia">Cyclopia</a></span></li><li><span class="TLline"><a href="/medgen/452352" ref="tree=MeSH" title="MedGen record for Ethmocephaly">Ethmocephaly</a></span></li><li><span class="TLline"><a href="/medgen/335111" ref="tree=MeSH" title="MedGen record for Hartsfield-Bixler-Demyer syndrome">Hartsfield-Bixler-Demyer syndrome</a></span></li><li><span class="TLline"><a href="/medgen/322517" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 2">Holoprosencephaly 2</a></span></li><li><span class="TLline"><a href="/medgen/327125" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 3">Holoprosencephaly 3</a></span></li><li><span class="TLline"><a href="/medgen/374488" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 4">Holoprosencephaly 4</a></span></li><li><span class="TLline"><a href="/medgen/355304" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 5">Holoprosencephaly 5</a></span></li><li><span class="TLline"><a href="/medgen/342979" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 6">Holoprosencephaly 6</a></span></li><li><span class="TLline"><a href="/medgen/372134" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 7">Holoprosencephaly 7</a></span></li><li><span class="TLline"><a href="/medgen/322873" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 8">Holoprosencephaly 8</a></span></li><li><span class="TLline"><a href="/medgen/324369" ref="tree=MeSH" title="MedGen record for Holoprosencephaly 9">Holoprosencephaly 9</a></span></li><li><span class="TLline"><a href="/medgen/441620" ref="tree=MeSH" title="MedGen record for Holoprosencephaly caudal dysgenesis">Holoprosencephaly caudal dysgenesis</a></span></li><li><span class="TLline"><a href="/medgen/441187" ref="tree=MeSH" title="MedGen record for Holoprosencephaly deletion 2p">Holoprosencephaly deletion 2p</a></span></li><li><span class="TLline"><a href="/medgen/441188" ref="tree=MeSH" title="MedGen record for Holoprosencephaly ectrodactyly cleft lip palate">Holoprosencephaly ectrodactyly cleft lip palate</a></span></li><li><span class="TLline"><a href="/medgen/441189" ref="tree=MeSH" title="MedGen record for Holoprosencephaly radial heart renal anomalies">Holoprosencephaly radial heart renal anomalies</a></span></li><li><span class="TLline"><a href="/medgen/343987" ref="tree=MeSH" title="MedGen record for Holoprosencephaly, recurrent infections, and monocytosis">Holoprosencephaly, recurrent infections, and monocytosis</a></span></li><li><span class="TLline"><a href="/medgen/330464" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-craniosynostosis syndrome">Holoprosencephaly-craniosynostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/336097" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-hypokinesia-congenital contractures syndrome">Holoprosencephaly-hypokinesia-congenital contractures syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340382" ref="tree=MeSH" title="MedGen record for Holoprosencephaly-postaxial polydactyly syndrome">Holoprosencephaly-postaxial polydactyly syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343380" ref="tree=MeSH" title="MedGen record for Lambotte syndrome">Lambotte syndrome</a></span></li><li><span class="TLline"><a href="/medgen/96559" ref="tree=MeSH" title="MedGen record for Lobar holoprosencephaly">Lobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/798407" ref="tree=MeSH" title="MedGen record for Midline interhemispheric variant of holoprosencephaly">Midline interhemispheric variant of holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/468539" ref="tree=MeSH" title="MedGen record for NODAL-Related Holoprosencephaly">NODAL-Related Holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/199694" ref="tree=MeSH" title="MedGen record for Semilobar holoprosencephaly">Semilobar holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1843386" ref="tree=MeSH" title="MedGen record for Septopreoptic holoprosencephaly">Septopreoptic holoprosencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1708682" ref="tree=MeSH" title="MedGen record for Syntelencephaly">Syntelencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/98127" ref="tree=MeSH" title="MedGen record for Partial agenesis of the corpus callosum">Partial agenesis of the corpus callosum</a></span></li><li><span class="TLline"><a href="/medgen/90926" ref="tree=MeSH" title="MedGen record for Septo-optic dysplasia sequence">Septo-optic dysplasia sequence</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1641855" ref="tree=MeSH" title="MedGen record for Diencephalic-mesencephalic junction dysplasia">Diencephalic-mesencephalic junction dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/140910" ref="tree=MeSH" title="MedGen record for Hemimegalencephaly">Hemimegalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/44422" ref="tree=MeSH" title="MedGen record for Isolated congenital microcephaly">Isolated congenital microcephaly</a></span><ul><li><span class="TLline"><a href="/medgen/66319" ref="tree=MeSH" title="MedGen record for Autosomal dominant primary microcephaly">Autosomal dominant primary microcephaly</a></span></li><li><span class="TLline"><a href="/medgen/777995" ref="tree=MeSH" title="MedGen record for Autosomal recessive primary microcephaly">Autosomal recessive primary microcephaly</a></span><ul><li><span class="TLline"><a href="/medgen/767413" ref="tree=MeSH" title="MedGen record for Microcephalic primordial dwarfism due to ZNF335 deficiency">Microcephalic primordial dwarfism due to ZNF335 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/344415" ref="tree=MeSH" title="MedGen record for Microcephaly 1, primary, autosomal recessive">Microcephaly 1, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/815761" ref="tree=MeSH" title="MedGen record for Microcephaly 11, primary, autosomal recessive">Microcephaly 11, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/863593" ref="tree=MeSH" title="MedGen record for Microcephaly 12, primary, autosomal recessive">Microcephaly 12, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/863517" ref="tree=MeSH" title="MedGen record for Microcephaly 13, primary, autosomal recessive">Microcephaly 13, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/906798" ref="tree=MeSH" title="MedGen record for Microcephaly 14, primary, autosomal recessive">Microcephaly 14, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/895496" ref="tree=MeSH" title="MedGen record for Microcephaly 15, primary, autosomal recessive">Microcephaly 15, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/346929" ref="tree=MeSH" title="MedGen record for Microcephaly 2, primary, autosomal recessive, with or without cortical malformations">Microcephaly 2, primary, autosomal recessive, with or without cortical malformations</a></span></li><li><span class="TLline"><a href="/medgen/347619" ref="tree=MeSH" title="MedGen record for Microcephaly 3, primary, autosomal recessive">Microcephaly 3, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/347655" ref="tree=MeSH" title="MedGen record for Microcephaly 4, primary, autosomal recessive">Microcephaly 4, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/373344" ref="tree=MeSH" title="MedGen record for Microcephaly 5, primary, autosomal recessive">Microcephaly 5, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/330770" ref="tree=MeSH" title="MedGen record for Microcephaly 6, primary, autosomal recessive">Microcephaly 6, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/436370" ref="tree=MeSH" title="MedGen record for Microcephaly 7, primary, autosomal recessive">Microcephaly 7, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/766328" ref="tree=MeSH" title="MedGen record for Microcephaly 8, primary, autosomal recessive">Microcephaly 8, primary, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/766800" ref="tree=MeSH" title="MedGen record for Microcephaly 9, primary, autosomal recessive">Microcephaly 9, primary, autosomal recessive</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/901502" ref="tree=MeSH" title="MedGen record for Porencephaly">Porencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/508833" ref="tree=MeSH" title="MedGen record for Acquired porencephaly">Acquired porencephaly</a></span></li><li><span class="TLline"><a href="/medgen/401353" ref="tree=MeSH" title="MedGen record for Familial porencephaly">Familial porencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/383046" ref="tree=MeSH" title="MedGen record for Primary microcephaly">Primary microcephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65141" ref="tree=MeSH" title="MedGen record for Megalencephaly">Megalencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/164085" ref="tree=MeSH" title="MedGen record for Acquired Macrocephaly">Acquired Macrocephaly</a></span></li><li><span class="TLline"><a href="/medgen/1815079" ref="tree=MeSH" title="MedGen record for Dysplastic megalencephaly">Dysplastic megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/977842" ref="tree=MeSH" title="MedGen record for Isolated megalencephaly">Isolated megalencephaly</a></span></li><li><span class="TLline"><a href="/medgen/322956" ref="tree=MeSH" title="MedGen record for Macrocephaly at birth">Macrocephaly at birth</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1636968" ref="tree=MeSH" title="MedGen record for Sporadic fetal brain disruption sequence">Sporadic fetal brain disruption sequence</a></span></li></ul></li></ul></div></div></div></div>
|
||
</div>
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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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36436955">ACR Appropriateness Criteria® Ataxia-Child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Expert Panel on Pediatric Imaging,
|
||
Radhakrishnan R,
|
||
Shea LAG,
|
||
Pruthi S,
|
||
Silvera VM,
|
||
Bosemani T,
|
||
Desai NK,
|
||
Gilbert DL,
|
||
Glenn OA,
|
||
Guimaraes CV,
|
||
Ho ML,
|
||
Lam HFS,
|
||
Maheshwari M,
|
||
Mirsky DM,
|
||
Nadel HR,
|
||
Partap S,
|
||
Schooler GR,
|
||
Udayasankar UK,
|
||
Whitehead MT,
|
||
Wright JN,
|
||
Rigsby CK</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Radiol</span>
|
||
2022 Nov;19(11S):S240-S255.
|
||
doi: 10.1016/j.jacr.2022.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36436955" target="_blank">36436955</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20104616">Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mercier S,
|
||
Dubourg C,
|
||
Belleguic M,
|
||
Pasquier L,
|
||
Loget P,
|
||
Lucas J,
|
||
Bendavid C,
|
||
Odent S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2010 Feb 15;154C(1):191-6.
|
||
doi: 10.1002/ajmg.c.30246.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20104616" target="_blank">20104616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15301825">Evaluation and management of children with holoprosencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hahn JS,
|
||
Plawner LL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2004 Aug;31(2):79-88.
|
||
doi: 10.1016/j.pediatrneurol.2004.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15301825" target="_blank">15301825</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22brain%20malformation%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 (21)</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/35997716">The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lai A,
|
||
Soucy A,
|
||
El Achkar CM,
|
||
Barkovich AJ,
|
||
Cao Y,
|
||
DiStefano M,
|
||
Evenson M,
|
||
Guerrini R,
|
||
Knight D,
|
||
Lee YS,
|
||
Mefford HC,
|
||
Miller DT,
|
||
Mirzaa G,
|
||
Mochida G,
|
||
Rodan LH,
|
||
Patel M,
|
||
Smith L,
|
||
Spencer S,
|
||
Walsh CA,
|
||
Yang E,
|
||
Yuskaitis CJ,
|
||
Yu T,
|
||
Poduri A;
|
||
ClinGen Brain Malformation Variant Curation Expert Panel</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Nov;24(11):2240-2248.
|
||
Epub 2022 Aug 23
|
||
doi: 10.1016/j.gim.2022.07.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35997716" target="_blank">35997716</a><a href="/pmc/articles/PMC9883838" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31353024">Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fischer-Zirnsak B,
|
||
Segebrecht L,
|
||
Schubach M,
|
||
Charles P,
|
||
Alderman E,
|
||
Brown K,
|
||
Cadieux-Dion M,
|
||
Cartwright T,
|
||
Chen Y,
|
||
Costin C,
|
||
Fehr S,
|
||
Fitzgerald KM,
|
||
Fleming E,
|
||
Foss K,
|
||
Ha T,
|
||
Hildebrand G,
|
||
Horn D,
|
||
Liu S,
|
||
Marco EJ,
|
||
McDonald M,
|
||
McWalter K,
|
||
Race S,
|
||
Rush ET,
|
||
Si Y,
|
||
Saunders C,
|
||
Slavotinek A,
|
||
Stockler-Ipsiroglu S,
|
||
Telegrafi A,
|
||
Thiffault I,
|
||
Torti E,
|
||
Tsai AC,
|
||
Wang X,
|
||
Zafar M,
|
||
Keren B,
|
||
Kornak U,
|
||
Boerkoel CF,
|
||
Mirzaa G,
|
||
Ehmke N</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2019 Sep 5;105(3):631-639.
|
||
Epub 2019 Jul 25
|
||
doi: 10.1016/j.ajhg.2019.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31353024" target="_blank">31353024</a><a href="/pmc/articles/PMC6731356" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27189655">Spina bifida.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Copp AJ,
|
||
Adzick NS,
|
||
Chitty LS,
|
||
Fletcher JM,
|
||
Holmbeck GN,
|
||
Shaw GM</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2015 Apr 30;1:15007.
|
||
doi: 10.1038/nrdp.2015.7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27189655" target="_blank">27189655</a><a href="/pmc/articles/PMC4898641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20374731">GPR56 and its related diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jin Z,
|
||
Luo R,
|
||
Piao X</span><br />
|
||
<span class="medgenPMjournal">Prog Mol Biol Transl Sci</span>
|
||
2009;89:1-13.
|
||
Epub 2009 Oct 7
|
||
doi: 10.1016/S1877-1173(09)89001-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20374731" target="_blank">20374731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15733261">Glyc-O-genetics of Walker-Warburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Reeuwijk J,
|
||
Brunner HG,
|
||
van Bokhoven H</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2005 Apr;67(4):281-9.
|
||
doi: 10.1111/j.1399-0004.2004.00368.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15733261" target="_blank">15733261</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain%20malformation%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 (148)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38944430">Prenatal Imaging of Supratentorial Fetal Brain Malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hung SC,
|
||
Dahmoush H,
|
||
Lee HJ,
|
||
Chen HC,
|
||
Guimaraes CV</span><br />
|
||
<span class="medgenPMjournal">Magn Reson Imaging Clin N Am</span>
|
||
2024 Aug;32(3):395-412.
|
||
Epub 2024 Apr 23
|
||
doi: 10.1016/j.mric.2024.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38944430" target="_blank">38944430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26260203">Prenatal evaluation of atelencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nagaraj UD,
|
||
Lawrence A,
|
||
Vezina LG,
|
||
Bulas DI,
|
||
duPlessis AJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2016 Jan;46(1):145-7.
|
||
Epub 2015 Aug 11
|
||
doi: 10.1007/s00247-015-3440-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26260203" target="_blank">26260203</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27189655">Spina bifida.</a></div>
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Adzick NS,
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<div class="nl"><a target="_blank" href="/pubmed/24589886">Hemimegalencephaly without epilepsy: case report.</a></div>
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Shanmuganathan M,
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<div class="nl"><a target="_blank" href="/pubmed/8214352">Familial schizencephaly.</a></div>
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Adzick NS,
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Chitty LS,
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Fletcher JM,
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Holmbeck GN,
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Shaw GM</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/27189655" target="_blank">27189655</a><a href="/pmc/articles/PMC4898641" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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Sapp K,
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Bruel AL,
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Dias KR,
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Temple SEL,
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Baker JJ,
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Torella A,
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Sadedin S;
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White SM,
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Ascher DB,
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Schenck A,
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<div class="nl"><a target="_blank" href="/pubmed/30744660">The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hebebrand M,
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<span class="bold">PMID: </span><a href="/pubmed/30744660" target="_blank">30744660</a><a href="/pmc/articles/PMC6371496" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24589886">Hemimegalencephaly without epilepsy: case report.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">James G,
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Shanmuganathan M,
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Harkness W</span><br />
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Pasquier L,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain%20malformation%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 (117)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35395208">Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson SEM,
|
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Costain G,
|
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Blok LER,
|
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Silk MA,
|
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Nguyen TB,
|
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Dong X,
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Alhuzaimi DE,
|
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Dowling JJ,
|
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Walker S,
|
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Amburgey K,
|
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Hayeems RZ,
|
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Rodan LH,
|
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Schwartz MA,
|
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Picker J,
|
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Lynch SA,
|
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Gupta A,
|
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Rasmussen KJ,
|
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Schimmenti LA,
|
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Klee EW,
|
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Niu Z,
|
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Agre KE,
|
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Chilton I,
|
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Chung WK,
|
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Revah-Politi A,
|
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Au PYB,
|
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Griffith C,
|
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Racobaldo M,
|
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Raas-Rothschild A,
|
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Ben Zeev B,
|
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Barel O,
|
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Moutton S,
|
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Morice-Picard F,
|
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Carmignac V,
|
||
Cornaton J,
|
||
Marle N,
|
||
Devinsky O,
|
||
Stimach C,
|
||
Wechsler SB,
|
||
Hainline BE,
|
||
Sapp K,
|
||
Willems M,
|
||
Bruel AL,
|
||
Dias KR,
|
||
Evans CA,
|
||
Roscioli T,
|
||
Sachdev R,
|
||
Temple SEL,
|
||
Zhu Y,
|
||
Baker JJ,
|
||
Scheffer IE,
|
||
Gardiner FJ,
|
||
Schneider AL,
|
||
Muir AM,
|
||
Mefford HC,
|
||
Crunk A,
|
||
Heise EM,
|
||
Millan F,
|
||
Monaghan KG,
|
||
Person R,
|
||
Rhodes L,
|
||
Richards S,
|
||
Wentzensen IM,
|
||
Cogné B,
|
||
Isidor B,
|
||
Nizon M,
|
||
Vincent M,
|
||
Besnard T,
|
||
Piton A,
|
||
Marcelis C,
|
||
Kato K,
|
||
Koyama N,
|
||
Ogi T,
|
||
Goh ES,
|
||
Richmond C,
|
||
Amor DJ,
|
||
Boyce JO,
|
||
Morgan AT,
|
||
Hildebrand MS,
|
||
Kaspi A,
|
||
Bahlo M,
|
||
Friðriksdóttir R,
|
||
Katrínardóttir H,
|
||
Sulem P,
|
||
Stefánsson K,
|
||
Björnsson HT,
|
||
Mandelstam S,
|
||
Morleo M,
|
||
Mariani M;
|
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TUDP Study Group,
|
||
Scala M,
|
||
Accogli A,
|
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Torella A,
|
||
Capra V,
|
||
Wallis M,
|
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Jansen S,
|
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Weisfisz Q,
|
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de Haan H,
|
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Sadedin S;
|
||
Broad Center for Mendelian Genomics,
|
||
Lim SC,
|
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White SM,
|
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Ascher DB,
|
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Schenck A,
|
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Lockhart PJ,
|
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Christodoulou J,
|
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Tan TY</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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2022 Apr 7;109(4):601-617.
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doi: 10.1016/j.ajhg.2022.03.002.
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<span class="bold">PMID: </span><a href="/pubmed/35395208" target="_blank">35395208</a><a href="/pmc/articles/PMC9069070" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31063520">The wide spectrum of ultrasound diagnosis of holoprosencephaly.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30744660">The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hebebrand M,
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Hüffmeier U,
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Trollmann R,
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Hehr U,
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Uebe S,
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Ekici AB,
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Kraus C,
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Krumbiegel M,
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Reis A,
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Thiel CT,
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Popp B</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/30744660" target="_blank">30744660</a><a href="/pmc/articles/PMC6371496" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dubourg C,
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Bendavid C,
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Pasquier L,
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Henry C,
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Odent S,
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David V</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/17274816" target="_blank">17274816</a><a href="/pmc/articles/PMC1802747" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain%20malformation%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 (153)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/37631608">Automatic Detection of Focal Cortical Dysplasia Using MRI: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiménez-Murillo D,
|
||
Castro-Ospina AE,
|
||
Duque-Muñoz L,
|
||
Martínez-Vargas JD,
|
||
Suárez-Revelo JX,
|
||
Vélez-Arango JM,
|
||
de la Iglesia-Vayá M</span><br />
|
||
<span class="medgenPMjournal">Sensors (Basel)</span>
|
||
2023 Aug 10;23(16)
|
||
doi: 10.3390/s23167072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37631608" target="_blank">37631608</a><a href="/pmc/articles/PMC10458261" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23311314">Neuropsychological profile of agenesis of the corpus callosum: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siffredi V,
|
||
Anderson V,
|
||
Leventer RJ,
|
||
Spencer-Smith MM</span><br />
|
||
<span class="medgenPMjournal">Dev Neuropsychol</span>
|
||
2013;38(1):36-57.
|
||
doi: 10.1080/87565641.2012.721421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23311314" target="_blank">23311314</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain%20malformation%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 (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0266449%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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|
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<li><a href="/gtr/tests?term=C0266449%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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