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<meta name="keywords" content="C4025712, abnormal cerebellar vermis morphology, abnormality of the cerebellar vermis, anatomical abnormality, 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="An anomaly of the vermis of cerebellum." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Abnormal cerebellar vermis morphology (Concept Id: C4025712)
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<!--
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||
UID=871231
|
||
ConceptID=C4025712
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal cerebellar vermis morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871231</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:">C4025712</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of the cerebellar vermis</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002334">HP:0002334</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An anomaly of the vermis of cerebellum. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</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="TLline">Abnormal cerebellar vermis morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866816" ref="tree=MeSH" title="MedGen record for Abnormal hindbrain morphology">Abnormal hindbrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869015" ref="tree=MeSH" title="MedGen record for Abnormal metencephalon morphology">Abnormal metencephalon morphology</a></span><ul><li><span class="TLline"><a href="/medgen/400925" ref="tree=MeSH" title="MedGen record for Abnormal cerebellum morphology">Abnormal cerebellum morphology</a></span><ul><li><span class="matched_ds">Abnormal cerebellar vermis morphology</span><ul><li><span class="TLline"><a href="/medgen/149271" ref="tree=MeSH" title="MedGen record for Cerebellar vermis atrophy">Cerebellar vermis atrophy</a></span></li><li><span class="TLline"><a href="/medgen/335171" ref="tree=MeSH" title="MedGen record for Disorganization of the anterior cerebellar vermis">Disorganization of the anterior cerebellar vermis</a></span></li><li><span class="TLline"><a href="/medgen/871238" ref="tree=MeSH" title="MedGen record for Dysgenesis of the cerebellar vermis">Dysgenesis of the cerebellar vermis</a></span></li><li><span class="TLline"><a href="/medgen/868499" ref="tree=MeSH" title="MedGen record for Dysmorphic inferior cerebellar vermis">Dysmorphic inferior cerebellar vermis</a></span></li><li><span class="TLline"><a href="/medgen/336510" ref="tree=MeSH" title="MedGen record for Loss of Purkinje cells in the cerebellar vermis">Loss of Purkinje cells in the cerebellar vermis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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<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/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
|
||
Behluli E,
|
||
Grajçevci-Uka V,
|
||
Liehr T,
|
||
Temaj G</span><br />
|
||
<span class="medgenPMjournal">J Mother Child</span>
|
||
2022 Mar 1;26(1):118-123.
|
||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35238134">Genotype-phenotype correlates in Joubert syndrome: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gana S,
|
||
Serpieri V,
|
||
Valente EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Mar;190(1):72-88.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/ajmg.c.31963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35238134" target="_blank">35238134</a><a href="/pmc/articles/PMC9314610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33497949">A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cakmak Celik F,
|
||
Ozlu MM,
|
||
Ceylaner S</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2021 Mar;202:106506.
|
||
Epub 2021 Jan 19
|
||
doi: 10.1016/j.clineuro.2021.106506.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33497949" target="_blank">33497949</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20cerebellar%20vermis%20morphology)%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 (38)</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/38145551">'Choroid bar': easy-to-seek marker of normal posterior fossa at 12-14 weeks' gestation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paladini D,
|
||
Biancotto G,
|
||
Della Sala F,
|
||
Acharya PV</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2024 Apr;63(4):497-501.
|
||
Epub 2024 Mar 13
|
||
doi: 10.1002/uog.27566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38145551" target="_blank">38145551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35238134">Genotype-phenotype correlates in Joubert syndrome: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gana S,
|
||
Serpieri V,
|
||
Valente EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Mar;190(1):72-88.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/ajmg.c.31963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35238134" target="_blank">35238134</a><a href="/pmc/articles/PMC9314610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33039432">Ciliopathies and the Kidney: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McConnachie DJ,
|
||
Stow JL,
|
||
Mallett AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Mar;77(3):410-419.
|
||
Epub 2020 Oct 9
|
||
doi: 10.1053/j.ajkd.2020.08.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33039432" target="_blank">33039432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26092869">Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bachmann-Gagescu R,
|
||
Dempsey JC,
|
||
Phelps IG,
|
||
O'Roak BJ,
|
||
Knutzen DM,
|
||
Rue TC,
|
||
Ishak GE,
|
||
Isabella CR,
|
||
Gorden N,
|
||
Adkins J,
|
||
Boyle EA,
|
||
de Lacy N,
|
||
O'Day D,
|
||
Alswaid A,
|
||
Ramadevi A R,
|
||
Lingappa L,
|
||
Lourenço C,
|
||
Martorell L,
|
||
Garcia-Cazorla À,
|
||
Ozyürek H,
|
||
Haliloğlu G,
|
||
Tuysuz B,
|
||
Topçu M;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Chance P,
|
||
Parisi MA,
|
||
Glass IA,
|
||
Shendure J,
|
||
Doherty D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Aug;52(8):514-22.
|
||
Epub 2015 Jun 19
|
||
doi: 10.1136/jmedgenet-2015-103087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26092869" target="_blank">26092869</a><a href="/pmc/articles/PMC5082428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23023437">Joubert syndrome and related disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paprocka J,
|
||
Jamroz E</span><br />
|
||
<span class="medgenPMjournal">Neurol Neurochir Pol</span>
|
||
2012 Jul-Aug;46(4):379-83.
|
||
doi: 10.5114/ninp.2012.30457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23023437" target="_blank">23023437</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebellar%20vermis%20morphology%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 (365)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36803942">Joubert syndrome: Molecular basis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spahiu L,
|
||
Behluli E,
|
||
Grajçevci-Uka V,
|
||
Liehr T,
|
||
Temaj G</span><br />
|
||
<span class="medgenPMjournal">J Mother Child</span>
|
||
2022 Mar 1;26(1):118-123.
|
||
Epub 2023 Feb 22
|
||
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36803942" target="_blank">36803942</a><a href="/pmc/articles/PMC10032320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35238134">Genotype-phenotype correlates in Joubert syndrome: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gana S,
|
||
Serpieri V,
|
||
Valente EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Mar;190(1):72-88.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/ajmg.c.31963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35238134" target="_blank">35238134</a><a href="/pmc/articles/PMC9314610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33534089">Diagnostic Approach to Cerebellar Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Accogli A,
|
||
Addour-Boudrahem N,
|
||
Srour M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2021 Aug;20(4):631-658.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1007/s12311-020-01224-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33534089" target="_blank">33534089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28604212">Joubert syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crawford D,
|
||
Dearmun A</span><br />
|
||
<span class="medgenPMjournal">Nurs Child Young People</span>
|
||
2017 Jun 12;29(5):15.
|
||
doi: 10.7748/ncyp.29.5.15.s19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28604212" target="_blank">28604212</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26092869">Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bachmann-Gagescu R,
|
||
Dempsey JC,
|
||
Phelps IG,
|
||
O'Roak BJ,
|
||
Knutzen DM,
|
||
Rue TC,
|
||
Ishak GE,
|
||
Isabella CR,
|
||
Gorden N,
|
||
Adkins J,
|
||
Boyle EA,
|
||
de Lacy N,
|
||
O'Day D,
|
||
Alswaid A,
|
||
Ramadevi A R,
|
||
Lingappa L,
|
||
Lourenço C,
|
||
Martorell L,
|
||
Garcia-Cazorla À,
|
||
Ozyürek H,
|
||
Haliloğlu G,
|
||
Tuysuz B,
|
||
Topçu M;
|
||
University of Washington Center for Mendelian Genomics,
|
||
Chance P,
|
||
Parisi MA,
|
||
Glass IA,
|
||
Shendure J,
|
||
Doherty D</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2015 Aug;52(8):514-22.
|
||
Epub 2015 Jun 19
|
||
doi: 10.1136/jmedgenet-2015-103087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26092869" target="_blank">26092869</a><a href="/pmc/articles/PMC5082428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebellar%20vermis%20morphology%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 (613)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39263992">Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abou Chaar W,
|
||
Eranki AN,
|
||
Stevens HA,
|
||
Watson SL,
|
||
Wong DY,
|
||
Avila VS,
|
||
Delfeld M,
|
||
Gary AJ,
|
||
Tawde S,
|
||
Triebold M,
|
||
Cherchi M,
|
||
Xie T,
|
||
Lockhart PJ,
|
||
Bahlo M,
|
||
Pellerin D,
|
||
Dicaire MJ,
|
||
Danzi M,
|
||
Zuchner S,
|
||
Brais BC,
|
||
Perlman S,
|
||
Burmeister M,
|
||
Paulson H,
|
||
Srinivasan S,
|
||
Schut L,
|
||
Bower M,
|
||
Bushara K,
|
||
Liao C,
|
||
Shakkottai VG,
|
||
Collins J,
|
||
Clark HB,
|
||
Das S,
|
||
Fogel BL,
|
||
Gomez CM</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2024 Dec;96(6):1092-1103.
|
||
Epub 2024 Sep 12
|
||
doi: 10.1002/ana.27060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39263992" target="_blank">39263992</a><a href="/pmc/articles/PMC11563892" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31015250">Joubert syndrome with multiple pituitary hormone deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akcan N,
|
||
Bas F,
|
||
Poyrazoglu S,
|
||
Bundak R</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2019 Apr 23;12(4)
|
||
doi: 10.1136/bcr-2018-229016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31015250" target="_blank">31015250</a><a href="/pmc/articles/PMC6505975" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27718087">When is biopsy-proven TIN not simply TIN? Questions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ware N,
|
||
Sebire NJ,
|
||
Chong WK,
|
||
Krishnan R,
|
||
Marks SD</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2017 Jun;32(6):975-976.
|
||
Epub 2016 Oct 7
|
||
doi: 10.1007/s00467-016-3465-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27718087" target="_blank">27718087</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14968261">MRI findings in acute cerebellitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Bruecker Y,
|
||
Claus F,
|
||
Demaerel P,
|
||
Ballaux F,
|
||
Sciot R,
|
||
Lagae L,
|
||
Buyse G,
|
||
Wilms G</span><br />
|
||
<span class="medgenPMjournal">Eur Radiol</span>
|
||
2004 Aug;14(8):1478-83.
|
||
Epub 2004 Feb 13
|
||
doi: 10.1007/s00330-004-2247-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14968261" target="_blank">14968261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3156465">Isotretinoin teratogenicity. Case report with neuropathologic findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hansen LA,
|
||
Pearl GS</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
1985;65(3-4):335-7.
|
||
doi: 10.1007/BF00687018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3156465" target="_blank">3156465</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebellar%20vermis%20morphology%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 (51)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35238134">Genotype-phenotype correlates in Joubert syndrome: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gana S,
|
||
Serpieri V,
|
||
Valente EM</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2022 Mar;190(1):72-88.
|
||
Epub 2022 Mar 3
|
||
doi: 10.1002/ajmg.c.31963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35238134" target="_blank">35238134</a><a href="/pmc/articles/PMC9314610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33534089">Diagnostic Approach to Cerebellar Hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Accogli A,
|
||
Addour-Boudrahem N,
|
||
Srour M</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2021 Aug;20(4):631-658.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1007/s12311-020-01224-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33534089" target="_blank">33534089</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33168220">Dandy-Walker Malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine (SMFM),
|
||
Monteagudo A</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
2020 Dec;223(6):B38-B41.
|
||
Epub 2020 Nov 7
|
||
doi: 10.1016/j.ajog.2020.08.184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33168220" target="_blank">33168220</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32031333">De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chilton I,
|
||
Okur V,
|
||
Vitiello G,
|
||
Selicorni A,
|
||
Mariani M,
|
||
Goldenberg A,
|
||
Husson T,
|
||
Campion D,
|
||
Lichtenbelt KD,
|
||
van Gassen K,
|
||
Steinraths M,
|
||
Rice J,
|
||
Roeder ER,
|
||
Littlejohn RO,
|
||
Srour M,
|
||
Sebire G,
|
||
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<div class="nl"><a target="_blank" href="/pubmed/14729524">Partial rhombencephalosynapsis.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebellar%20vermis%20morphology%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 (288)</a></div></div>
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|
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|
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38266159">Case report and systematic review of cerebellar vermis alterations in psychosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dusi N,
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Esposito CM,
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Delvecchio G,
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2024 Jul 1;39(4):223-231.
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Epub 2024 Feb 13
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<span class="bold">PMID: </span><a href="/pubmed/38266159" target="_blank">38266159</a><a href="/pmc/articles/PMC11136271" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/36971923">Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zakaria RBM,
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Malta M,
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Pelletier F,
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Pinchefsky E,
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2024 Apr;23(2):418-430.
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Epub 2023 Mar 27
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||
<span class="bold">PMID: </span><a href="/pubmed/36971923" target="_blank">36971923</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27173364">MR Imaging in Spinocerebellar Ataxias: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Klaes A,
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Reckziegel E,
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Franca MC Jr,
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Rezende TJ,
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19191827">Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bolduc ME,
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<span class="medgenPMjournal">Dev Med Child Neurol</span>
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<span class="bold">PMID: </span><a href="/pubmed/19191827" target="_blank">19191827</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18833430">Cerebellum and psychiatric disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Baldaçara L,
|
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Borgio JG,
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Lacerda AL,
|
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<span class="bold">PMID: </span><a href="/pubmed/18833430" target="_blank">18833430</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebellar%20vermis%20morphology%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 (5)</a></div></div>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
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