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<meta name="keywords" content="C4021762, abnormal cerebral morphology, abnormality of the cerebrum, abnormality of the telencephalon, anatomical abnormality, cerebral lesion, 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="Any structural abnormality of the telencephalon, which is also known as the cerebrum." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=867394
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ConceptID=C4021762
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal cerebral morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867394</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:">C4021762</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 cerebrum</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:0002060">HP:0002060</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>
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||
<div class="portlet_content ln">Any structural abnormality of the telencephalon, which is also known as the cerebrum. [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 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 cerebral morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><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/866620" ref="tree=MeSH" title="MedGen record for Abnormal forebrain morphology">Abnormal forebrain morphology</a></span><ul><li><span class="matched_ds">Abnormal cerebral morphology</span><ul><li><span class="TLline"><a href="/medgen/871221" ref="tree=MeSH" title="MedGen record for Abnormal cerebral cortex morphology">Abnormal cerebral cortex morphology</a></span><ul><li><span class="TLline"><a href="/medgen/343457" ref="tree=MeSH" title="MedGen record for Abnormal cortical gyration">Abnormal cortical gyration</a></span><ul><li><span class="TLline"><a href="/medgen/1690926" ref="tree=MeSH" title="MedGen record for Dysgyria">Dysgyria</a></span></li><li><span class="TLline"><a href="/medgen/78604" ref="tree=MeSH" title="MedGen record for Lissencephaly">Lissencephaly</a></span></li><li><span class="TLline"><a href="/medgen/78605" ref="tree=MeSH" title="MedGen record for Polymicrogyria">Polymicrogyria</a></span></li><li><span class="TLline"><a href="/medgen/413664" ref="tree=MeSH" title="MedGen record for Simplified gyral pattern">Simplified gyral pattern</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1783583" ref="tree=MeSH" title="MedGen record for Abnormal temporal lobe morphology">Abnormal temporal lobe morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1814372" ref="tree=MeSH" title="MedGen record for Temporal lobe dysplasia">Temporal lobe dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1814371" ref="tree=MeSH" title="MedGen record for Temporal lobe megalencephaly">Temporal lobe megalencephaly</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/341885" ref="tree=MeSH" title="MedGen record for Cerebral cortex with spongiform changes">Cerebral cortex with spongiform changes</a></span></li><li><span class="TLline"><a href="/medgen/1646740" ref="tree=MeSH" title="MedGen record for Cerebral cortical atrophy">Cerebral cortical atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/867763" ref="tree=MeSH" title="MedGen record for Cerebral cortical hemiatrophy">Cerebral cortical hemiatrophy</a></span></li><li><span class="TLline"><a href="/medgen/870517" ref="tree=MeSH" title="MedGen record for Frontal cortical atrophy">Frontal cortical atrophy</a></span></li><li><span class="TLline"><a href="/medgen/868640" ref="tree=MeSH" title="MedGen record for Occipital cortical atrophy">Occipital cortical atrophy</a></span></li><li><span class="TLline"><a href="/medgen/868641" ref="tree=MeSH" title="MedGen record for Parietal cortical atrophy">Parietal cortical atrophy</a></span></li><li><span class="TLline"><a href="/medgen/870489" ref="tree=MeSH" title="MedGen record for Temporal cortical atrophy">Temporal cortical atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814213" ref="tree=MeSH" title="MedGen record for Cerebral cortical microinfarct">Cerebral cortical microinfarct</a></span></li><li><span class="TLline"><a href="/medgen/98129" ref="tree=MeSH" title="MedGen record for Cortical dysplasia">Cortical dysplasia</a></span><ul><li><span class="TLline"><a href="/medgen/853938" ref="tree=MeSH" title="MedGen record for Focal cortical dysplasia">Focal cortical dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/870512" ref="tree=MeSH" title="MedGen record for Frontoparietal cortical dysplasia">Frontoparietal cortical dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1645432" ref="tree=MeSH" title="MedGen record for Isolated focal cortical dysplasia">Isolated focal cortical dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/1670975" ref="tree=MeSH" title="MedGen record for Mild malformation of cortical development">Mild malformation of cortical development</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/340336" ref="tree=MeSH" title="MedGen record for Neuronal loss in the cerebral cortex">Neuronal loss in the cerebral cortex</a></span></li><li><span class="TLline"><a href="/medgen/325187" ref="tree=MeSH" title="MedGen record for Small cerebral cortex">Small cerebral cortex</a></span><ul><li><span class="TLline"><a href="/medgen/1622765" ref="tree=MeSH" title="MedGen record for Small superior frontal cortex">Small superior frontal cortex</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841649" ref="tree=MeSH" title="MedGen record for Swollen achromatic neurons in the cerebral cortex">Swollen achromatic neurons in the cerebral cortex</a></span></li><li><span class="TLline"><a href="/medgen/870522" ref="tree=MeSH" title="MedGen record for Thick cerebral cortex">Thick cerebral cortex</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/866852" ref="tree=MeSH" title="MedGen record for Abnormal cerebral subcortex morphology">Abnormal cerebral subcortex morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1619147" ref="tree=MeSH" title="MedGen record for Abnormal basal ganglia morphology">Abnormal basal ganglia morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868351" ref="tree=MeSH" title="MedGen record for Abnormal basal ganglia MRI signal intensity">Abnormal basal ganglia MRI signal intensity</a></span></li><li><span class="TLline"><a href="/medgen/869185" ref="tree=MeSH" title="MedGen record for Abnormal corpus striatum morphology">Abnormal corpus striatum morphology</a></span></li><li><span class="TLline"><a href="/medgen/871225" ref="tree=MeSH" title="MedGen record for Abnormal globus pallidus morphology">Abnormal globus pallidus morphology</a></span></li><li><span class="TLline"><a href="/medgen/1369249" ref="tree=MeSH" title="MedGen record for Basal ganglia edema">Basal ganglia edema</a></span></li><li><span class="TLline"><a href="/medgen/868635" ref="tree=MeSH" title="MedGen record for Basal ganglia necrosis">Basal ganglia necrosis</a></span></li><li><span class="TLline"><a href="/medgen/870485" ref="tree=MeSH" title="MedGen record for Bilateral basal ganglia lesions">Bilateral basal ganglia lesions</a></span></li><li><span class="TLline"><a href="/medgen/870505" ref="tree=MeSH" title="MedGen record for Cavitation of the basal ganglia">Cavitation of the basal ganglia</a></span></li><li><span class="TLline"><a href="/medgen/1370512" ref="tree=MeSH" title="MedGen record for Dysgenesis of the basal ganglia">Dysgenesis of the basal ganglia</a></span></li><li><span class="TLline"><a href="/medgen/395272" ref="tree=MeSH" title="MedGen record for Large basal ganglia">Large basal ganglia</a></span></li><li><span class="TLline"><a href="/medgen/413431" ref="tree=MeSH" title="MedGen record for Neuronal loss in basal ganglia">Neuronal loss in basal ganglia</a></span></li><li><span class="TLline"><a href="/medgen/868375" ref="tree=MeSH" title="MedGen record for Small basal ganglia">Small basal ganglia</a></span></li><li><span class="TLline"><a href="/medgen/927610" ref="tree=MeSH" title="MedGen record for Status cribrosum">Status cribrosum</a></span></li><li><span class="TLline"><a href="/medgen/870500" ref="tree=MeSH" title="MedGen record for Symmetric lesions of the basal ganglia">Symmetric lesions of the basal ganglia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/181756" ref="tree=MeSH" title="MedGen record for Abnormal cerebral white matter morphology">Abnormal cerebral white matter morphology</a></span><ul><li><span class="TLline"><a href="/medgen/334198" ref="tree=MeSH" title="MedGen record for Abnormal corpus callosum morphology">Abnormal corpus callosum morphology</a></span></li><li><span class="TLline"><a href="/medgen/435926" ref="tree=MeSH" title="MedGen record for Abnormal periventricular white matter morphology">Abnormal periventricular white matter morphology</a></span></li><li><span class="TLline"><a href="/medgen/868134" ref="tree=MeSH" title="MedGen record for Abnormality of the anterior commissure">Abnormality of the anterior commissure</a></span></li><li><span class="TLline"><a href="/medgen/896347" ref="tree=MeSH" title="MedGen record for Abnormality of the bed nucleus of stria terminalis">Abnormality of the bed nucleus of stria terminalis</a></span></li><li><span class="TLline"><a href="/medgen/868481" ref="tree=MeSH" title="MedGen record for Abnormality of the internal capsule">Abnormality of the internal capsule</a></span></li><li><span class="TLline"><a href="/medgen/867467" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the cerebral white matter">Aplasia/Hypoplasia of the cerebral white matter</a></span></li><li><span class="TLline"><a href="/medgen/868341" ref="tree=MeSH" title="MedGen record for Cerebral white matter atrophy">Cerebral white matter atrophy</a></span></li><li><span class="TLline"><a href="/medgen/347007" ref="tree=MeSH" title="MedGen record for Diffuse swelling of cerebral white matter">Diffuse swelling of cerebral white matter</a></span></li><li><span class="TLline"><a href="/medgen/870477" ref="tree=MeSH" title="MedGen record for Diffuse white matter abnormalities">Diffuse white matter abnormalities</a></span></li><li><span class="TLline"><a href="/medgen/870499" ref="tree=MeSH" title="MedGen record for Focal white matter lesions">Focal white matter lesions</a></span></li><li><span class="TLline"><a href="/medgen/811125" ref="tree=MeSH" title="MedGen record for Hyperintensity of cerebral white matter on MRI">Hyperintensity of cerebral white matter on MRI</a></span></li><li><span class="TLline"><a href="/medgen/866563" ref="tree=MeSH" title="MedGen record for Hypointensity of cerebral white matter on MRI">Hypointensity of cerebral white matter on MRI</a></span></li><li><span class="TLline"><a href="/medgen/371562" ref="tree=MeSH" title="MedGen record for Multifocal cerebral white matter abnormalities">Multifocal cerebral white matter abnormalities</a></span></li><li><span class="TLline"><a href="/medgen/1815057" ref="tree=MeSH" title="MedGen record for Reduced cerebral white matter volume">Reduced cerebral white matter volume</a></span></li><li><span class="TLline"><a href="/medgen/373109" ref="tree=MeSH" title="MedGen record for White mater abnormalities in the posterior periventricular region">White mater abnormalities in the posterior periventricular region</a></span></li><li><span class="TLline"><a href="/medgen/1863675" ref="tree=MeSH" title="MedGen record for White matter globoid cells">White matter globoid cells</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863670" ref="tree=MeSH" title="MedGen record for Cerebral subcortical cyst">Cerebral subcortical cyst</a></span></li><li><span class="TLline"><a href="/medgen/870472" ref="tree=MeSH" title="MedGen record for Recurrent subcortical infarcts">Recurrent subcortical infarcts</a></span></li><li><span class="TLline"><a href="/medgen/1053437" ref="tree=MeSH" title="MedGen record for Subcortical U fiber lesion">Subcortical U fiber lesion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1716407" ref="tree=MeSH" title="MedGen record for Abnormal diffusion weighted cerebral MRI morphology">Abnormal diffusion weighted cerebral MRI morphology</a></span></li><li><span class="TLline"><a href="/medgen/870448" ref="tree=MeSH" title="MedGen record for Abnormal septum pellucidum morphology">Abnormal septum pellucidum morphology</a></span><ul><li><span class="TLline"><a href="/medgen/96561" ref="tree=MeSH" title="MedGen record for Absent septum pellucidum">Absent septum pellucidum</a></span><ul><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/327087" ref="tree=MeSH" title="MedGen record for Cavum septum pellucidum">Cavum septum pellucidum</a></span></li><li><span class="TLline"><a href="/medgen/741093" ref="tree=MeSH" title="MedGen record for Partial absence of the septum pellucidum">Partial absence of the septum pellucidum</a></span></li><li><span class="TLline"><a href="/medgen/1842050" ref="tree=MeSH" title="MedGen record for Wide cavum septum pellucidum">Wide cavum septum pellucidum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/196699" ref="tree=MeSH" title="MedGen record for Cerebral contusion">Cerebral contusion</a></span></li><li><span class="TLline"><a href="/medgen/2337" ref="tree=MeSH" title="MedGen record for Cerebral edema">Cerebral edema</a></span><ul><li><span class="TLline"><a href="/medgen/887794" ref="tree=MeSH" title="MedGen record for Peritumoral Brain Edema">Peritumoral Brain Edema</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1054515" ref="tree=MeSH" title="MedGen record for Cerebral hemisphere mass lesion">Cerebral hemisphere mass lesion</a></span></li><li><span class="TLline"><a href="/medgen/867759" ref="tree=MeSH" title="MedGen record for Cerebral inclusion bodies">Cerebral inclusion bodies</a></span><ul><li><span class="TLline"><a href="/medgen/866675" ref="tree=MeSH" title="MedGen record for Argyrophilic inclusion bodies">Argyrophilic inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/866674" ref="tree=MeSH" title="MedGen record for Cerebral hyaline bodies">Cerebral hyaline bodies</a></span></li><li><span class="TLline"><a href="/medgen/636473" ref="tree=MeSH" title="MedGen record for Hirano bodies">Hirano bodies</a></span></li><li><span class="TLline"><a href="/medgen/569348" ref="tree=MeSH" title="MedGen record for Lafora bodies">Lafora bodies</a></span></li><li><span class="TLline"><a href="/medgen/43126" ref="tree=MeSH" title="MedGen record for Lewy bodies">Lewy bodies</a></span></li><li><span class="TLline"><a href="/medgen/39273" ref="tree=MeSH" title="MedGen record for Neurofibrillary tangles">Neurofibrillary tangles</a></span></li><li><span class="TLline"><a href="/medgen/569336" ref="tree=MeSH" title="MedGen record for Rosenthal fibers">Rosenthal fibers</a></span></li><li><span class="TLline"><a href="/medgen/868651" ref="tree=MeSH" title="MedGen record for Ubiquitin-positive cerebral inclusion bodies">Ubiquitin-positive cerebral inclusion bodies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/3321" ref="tree=MeSH" title="MedGen record for Cerebral infarct">Cerebral infarct</a></span><ul><li><span class="TLline"><a href="/medgen/148402" ref="tree=MeSH" title="MedGen record for Anterior cerebral artery infarction">Anterior cerebral artery infarction</a></span></li><li><span class="TLline"><a href="/medgen/199687" ref="tree=MeSH" title="MedGen record for Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/325051" ref="tree=MeSH" title="MedGen record for CARASIL syndrome">CARASIL syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1634330" ref="tree=MeSH" title="MedGen record for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</a></span></li><li><span class="TLline"><a href="/medgen/895965" ref="tree=MeSH" title="MedGen record for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/215292" ref="tree=MeSH" title="MedGen record for Ischemic stroke">Ischemic stroke</a></span><ul><li><span class="TLline"><a href="/medgen/537428" ref="tree=MeSH" title="MedGen record for Embolic stroke">Embolic stroke</a></span></li><li><span class="TLline"><a href="/medgen/465269" ref="tree=MeSH" title="MedGen record for Lacunar stroke">Lacunar stroke</a></span></li><li><span class="TLline"><a href="/medgen/537131" ref="tree=MeSH" title="MedGen record for Thrombotic stroke">Thrombotic stroke</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/152845" ref="tree=MeSH" title="MedGen record for Middle cerebral artery infarction">Middle cerebral artery infarction</a></span></li><li><span class="TLline"><a href="/medgen/8277" ref="tree=MeSH" title="MedGen record for Multi-infarct dementia">Multi-infarct dementia</a></span></li><li><span class="TLline"><a href="/medgen/199818" ref="tree=MeSH" title="MedGen record for Posterior cerebral artery infarction">Posterior cerebral artery infarction</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/4936" ref="tree=MeSH" title="MedGen record for Encephalomalacia">Encephalomalacia</a></span><ul><li><span class="TLline"><a href="/medgen/6072" ref="tree=MeSH" title="MedGen record for Periventricular leukomalacia">Periventricular leukomalacia</a></span><ul><li><span class="TLline"><a href="/medgen/199626" ref="tree=MeSH" title="MedGen record for Cystic Periventricular Leukomalacia">Cystic Periventricular Leukomalacia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/78722" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy">Leukoencephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/199756" ref="tree=MeSH" title="MedGen record for CNS demyelinating autoimmune disease">CNS demyelinating autoimmune disease</a></span><ul><li><span class="TLline"><a href="/medgen/4033" ref="tree=MeSH" title="MedGen record for Acute disseminated encephalomyelitis">Acute disseminated encephalomyelitis</a></span></li><li><span class="TLline"><a href="/medgen/4937" ref="tree=MeSH" title="MedGen record for Acute hemorrhagic leukoencephalitis">Acute hemorrhagic leukoencephalitis</a></span></li><li><span class="TLline"><a href="/medgen/10123" ref="tree=MeSH" title="MedGen record for Multiple sclerosis">Multiple sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/45063" ref="tree=MeSH" title="MedGen record for Neuromyelitis optica">Neuromyelitis optica</a></span></li><li><span class="TLline"><a href="/medgen/3324" ref="tree=MeSH" title="MedGen record for Schilder disease">Schilder disease</a></span></li><li><span class="TLline"><a href="/medgen/6488" ref="tree=MeSH" title="MedGen record for Transverse myelitis">Transverse myelitis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/358229" ref="tree=MeSH" title="MedGen record for Diffuse leukoencephalopathy">Diffuse leukoencephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/347735" ref="tree=MeSH" title="MedGen record for Diffuse spongiform leukoencephalopathy">Diffuse spongiform leukoencephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/148407" ref="tree=MeSH" title="MedGen record for Hereditary Central Nervous System Demyelinating Diseases">Hereditary Central Nervous System Demyelinating Diseases</a></span><ul><li><span class="TLline"><a href="/medgen/57667" ref="tree=MeSH" title="MedGen record for Adrenoleukodystrophy">Adrenoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/78724" ref="tree=MeSH" title="MedGen record for Alexander disease">Alexander disease</a></span></li><li><span class="TLline"><a href="/medgen/44131" ref="tree=MeSH" title="MedGen record for Galactosylceramide beta-galactosidase deficiency">Galactosylceramide beta-galactosidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/6071" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy">Metachromatic leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/61440" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease">Pelizaeus-Merzbacher disease</a></span></li><li><span class="TLline"><a href="/medgen/61565" ref="tree=MeSH" title="MedGen record for Spongy degeneration of central nervous system">Spongy degeneration of central nervous system</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/777989" ref="tree=MeSH" title="MedGen record for Hereditary diffuse leukoencephalopathy with spheroids">Hereditary diffuse leukoencephalopathy with spheroids</a></span><ul><li><span class="TLline"><a href="/medgen/1794139" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy, diffuse hereditary, with spheroids 1">Leukoencephalopathy, diffuse hereditary, with spheroids 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137894" ref="tree=MeSH" title="MedGen record for Human immunodeficiency virus leukoencephalopathy">Human immunodeficiency virus leukoencephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/870527" ref="tree=MeSH" title="MedGen record for Posterior leukoencephalopathy">Posterior leukoencephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/163898" ref="tree=MeSH" title="MedGen record for Posterior leukoencephalopathy syndrome">Posterior leukoencephalopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/473743" ref="tree=MeSH" title="MedGen record for Posterior reversible encephalopathy syndrome">Posterior reversible encephalopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/344402" ref="tree=MeSH" title="MedGen record for Progressive leukoencephalopathy">Progressive leukoencephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/7327" ref="tree=MeSH" title="MedGen record for Progressive multifocal leukoencephalopathy">Progressive multifocal leukoencephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/347037" ref="tree=MeSH" title="MedGen record for Vanishing white matter disease">Vanishing white matter disease</a></span><ul><li><span class="TLline"><a href="/medgen/1842419" ref="tree=MeSH" title="MedGen record for Congenital or early infantile CACH syndrome">Congenital or early infantile CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826173" ref="tree=MeSH" title="MedGen record for Juvenile or adult CACH syndrome">Juvenile or adult CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1826172" ref="tree=MeSH" title="MedGen record for Late infantile CACH syndrome">Late infantile CACH syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1830482" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 1">Leukoencephalopathy with vanishing white matter 1</a></span></li><li><span class="TLline"><a href="/medgen/1841040" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 2">Leukoencephalopathy with vanishing white matter 2</a></span></li><li><span class="TLline"><a href="/medgen/1841041" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 3">Leukoencephalopathy with vanishing white matter 3</a></span></li><li><span class="TLline"><a href="/medgen/1841042" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 4">Leukoencephalopathy with vanishing white matter 4</a></span></li><li><span class="TLline"><a href="/medgen/1830483" ref="tree=MeSH" title="MedGen record for Leukoencephalopathy with vanishing white matter 5">Leukoencephalopathy with vanishing white matter 5</a></span></li><li><span class="TLline"><a href="/medgen/341114" ref="tree=MeSH" title="MedGen record for Ovarioleukodystrophy">Ovarioleukodystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/41447" ref="tree=MeSH" title="MedGen record for Vascular dementia">Vascular dementia</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/140910" ref="tree=MeSH" title="MedGen record for Hemimegalencephaly">Hemimegalencephaly</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/906044" ref="tree=MeSH" title="MedGen record for Porencephalic cyst">Porencephalic cyst</a></span></li><li><span class="TLline"><a href="/medgen/1052429" ref="tree=MeSH" title="MedGen record for Ring-enhancing cerebral lesion">Ring-enhancing cerebral lesion</a></span></li><li><span class="TLline"><a href="/medgen/78606" ref="tree=MeSH" title="MedGen record for Schizencephaly">Schizencephaly</a></span><ul><li><span class="TLline"><a href="/medgen/1825983" ref="tree=MeSH" title="MedGen record for Acquired schizencephaly">Acquired schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/419186" ref="tree=MeSH" title="MedGen record for Familial schizencephaly">Familial schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814208" ref="tree=MeSH" title="MedGen record for Type 1 schizencephaly">Type 1 schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814209" ref="tree=MeSH" title="MedGen record for Type 2 schizencephaly">Type 2 schizencephaly</a></span></li><li><span class="TLline"><a href="/medgen/1814210" ref="tree=MeSH" title="MedGen record for Type 3 schizencephaly">Type 3 schizencephaly</a></span></li></ul></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 class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_1632634"><div><strong>Branchiootorenal syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632634</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.">C4551702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1632634">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632634" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Branchiootorenal syndrome 1</a></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>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/38934362">Revised criteria for diagnosis and staging of Alzheimer's disease: Alzheimer's Association Workgroup.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jack CR Jr,
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Andrews JS,
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Beach TG,
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Buracchio T,
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Dunn B,
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Graf A,
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Hansson O,
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Ho C,
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Jagust W,
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McDade E,
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Molinuevo JL,
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Okonkwo OC,
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Pani L,
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Rafii MS,
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Scheltens P,
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Siemers E,
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Snyder HM,
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Sperling R,
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Teunissen CE,
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Carrillo MC</span><br />
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<span class="medgenPMjournal">Alzheimers Dement</span>
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2024 Aug;20(8):5143-5169.
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Epub 2024 Jun 27
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doi: 10.1002/alz.13859.
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<span class="bold">PMID: </span><a href="/pubmed/38934362" target="_blank">38934362</a><a href="/pmc/articles/PMC11350039" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28623672">Craniosynostosis - Recognition, clinical characteristics, and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kajdic N,
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Spazzapan P,
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Velnar T</span><br />
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<span class="medgenPMjournal">Bosn J Basic Med Sci</span>
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2018 May 20;18(2):110-116.
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doi: 10.17305/bjbms.2017.2083.
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<span class="bold">PMID: </span><a href="/pubmed/28623672" target="_blank">28623672</a><a href="/pmc/articles/PMC5988529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23602163">Human rabies: neuropathogenesis, diagnosis, and management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hemachudha T,
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Ugolini G,
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Wacharapluesadee S,
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Sungkarat W,
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Shuangshoti S,
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Laothamatas J</span><br />
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<span class="medgenPMjournal">Lancet Neurol</span>
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2013 May;12(5):498-513.
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doi: 10.1016/S1474-4422(13)70038-3.
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<span class="bold">PMID: </span><a href="/pubmed/23602163" target="_blank">23602163</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20cerebral%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 (1380)</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/27620360">The neuroanatomy of autism - a developmental perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donovan AP,
|
||
Basson MA</span><br />
|
||
<span class="medgenPMjournal">J Anat</span>
|
||
2017 Jan;230(1):4-15.
|
||
Epub 2016 Sep 12
|
||
doi: 10.1111/joa.12542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27620360" target="_blank">27620360</a><a href="/pmc/articles/PMC5192959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24636717">Natural history, current concepts, classification, factors impacting endovascular therapy, and pathophysiology of cerebral and spinal dural arteriovenous fistulas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hacein-Bey L,
|
||
Konstas AA,
|
||
Pile-Spellman J</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2014 Jun;121:64-75.
|
||
Epub 2014 Jan 31
|
||
doi: 10.1016/j.clineuro.2014.01.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24636717" target="_blank">24636717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22789608">Fetal magnetic resonance imaging and three-dimensional ultrasound in clinical practice: general aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sepulveda W,
|
||
Wong AE,
|
||
Sepulveda F,
|
||
Martinez-Ten P,
|
||
Ximenes R</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2012 Oct;26(5):575-91.
|
||
Epub 2012 Jul 11
|
||
doi: 10.1016/j.bpobgyn.2012.05.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22789608" target="_blank">22789608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15182817">Neuroimaging in disorders of cortical development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barkovich AJ,
|
||
Raybaud CA</span><br />
|
||
<span class="medgenPMjournal">Neuroimaging Clin N Am</span>
|
||
2004 May;14(2):231-54, viii.
|
||
doi: 10.1016/j.nic.2004.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15182817" target="_blank">15182817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11449490">X-linked malformations of cortical development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leventer RJ,
|
||
Mills PL,
|
||
Dobyns WB</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
2000 Fall;97(3):213-20.
|
||
doi: 10.1002/1096-8628(200023)97:3<213::AID-AJMG1039>3.0.CO;2-W.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11449490" target="_blank">11449490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebral%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 (23280)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38394064">Diagnostic work-up in malformations of cortical development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rijckmans E,
|
||
Stouffs K,
|
||
Jansen AC</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2024 Aug;66(8):974-989.
|
||
Epub 2024 Feb 23
|
||
doi: 10.1111/dmcn.15882.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38394064" target="_blank">38394064</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27620360">The neuroanatomy of autism - a developmental perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donovan AP,
|
||
Basson MA</span><br />
|
||
<span class="medgenPMjournal">J Anat</span>
|
||
2017 Jan;230(1):4-15.
|
||
Epub 2016 Sep 12
|
||
doi: 10.1111/joa.12542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27620360" target="_blank">27620360</a><a href="/pmc/articles/PMC5192959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22815034">Aicardi syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh P,
|
||
Goraya JS,
|
||
Saggar K,
|
||
Ahluwalia A</span><br />
|
||
<span class="medgenPMjournal">Singapore Med J</span>
|
||
2012 Jul;53(7):e153-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22815034" target="_blank">22815034</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22427329">A developmental and genetic classification for malformations of cortical development: update 2012.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barkovich AJ,
|
||
Guerrini R,
|
||
Kuzniecky RI,
|
||
Jackson GD,
|
||
Dobyns WB</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2012 May;135(Pt 5):1348-69.
|
||
Epub 2012 Mar 16
|
||
doi: 10.1093/brain/aws019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22427329" target="_blank">22427329</a><a href="/pmc/articles/PMC3338922" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17999896">Update on epilepsy and cerebral localization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartman AL,
|
||
Lesser RP</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2007 Nov;7(6):498-507.
|
||
doi: 10.1007/s11910-007-0077-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17999896" target="_blank">17999896</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebral%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 (28674)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30237473">Dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balint B,
|
||
Mencacci NE,
|
||
Valente EM,
|
||
Pisani A,
|
||
Rothwell J,
|
||
Jankovic J,
|
||
Vidailhet M,
|
||
Bhatia KP</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2018 Sep 20;4(1):25.
|
||
doi: 10.1038/s41572-018-0023-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30237473" target="_blank">30237473</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26040994">Angelman Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margolis SS,
|
||
Sell GL,
|
||
Zbinden MA,
|
||
Bird LM</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2015 Jul;12(3):641-50.
|
||
doi: 10.1007/s13311-015-0361-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26040994" target="_blank">26040994</a><a href="/pmc/articles/PMC4489961" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18781672">Functional organization of the basal ganglia: therapeutic implications for Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Obeso JA,
|
||
Rodríguez-Oroz MC,
|
||
Benitez-Temino B,
|
||
Blesa FJ,
|
||
Guridi J,
|
||
Marin C,
|
||
Rodriguez M</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2008;23 Suppl 3:S548-59.
|
||
doi: 10.1002/mds.22062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18781672" target="_blank">18781672</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16822356">Antiepileptic drugs and neurodevelopment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Motamedi GK,
|
||
Meador KJ</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2006 Jul;6(4):341-6.
|
||
doi: 10.1007/s11910-006-0028-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16822356" target="_blank">16822356</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2933136">Accutane-induced teratogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robertson R,
|
||
MacLeod PM</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
1985 Dec 1;133(11):1147-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2933136" target="_blank">2933136</a><a href="/pmc/articles/PMC1346372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebral%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 (7775)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24636717">Natural history, current concepts, classification, factors impacting endovascular therapy, and pathophysiology of cerebral and spinal dural arteriovenous fistulas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hacein-Bey L,
|
||
Konstas AA,
|
||
Pile-Spellman J</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2014 Jun;121:64-75.
|
||
Epub 2014 Jan 31
|
||
doi: 10.1016/j.clineuro.2014.01.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24636717" target="_blank">24636717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23828942">Somatic mutation, genomic variation, and neurological disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poduri A,
|
||
Evrony GD,
|
||
Cai X,
|
||
Walsh CA</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
2013 Jul 5;341(6141):1237758.
|
||
doi: 10.1126/science.1237758.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23828942" target="_blank">23828942</a><a href="/pmc/articles/PMC3909954" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17999896">Update on epilepsy and cerebral localization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartman AL,
|
||
Lesser RP</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2007 Nov;7(6):498-507.
|
||
doi: 10.1007/s11910-007-0077-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17999896" target="_blank">17999896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11701246">Neuropathology of tuberous sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mizuguchi M,
|
||
Takashima S</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2001 Nov;23(7):508-15.
|
||
doi: 10.1016/s0387-7604(01)00304-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11701246" target="_blank">11701246</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9588537">Microlissencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sztriha L,
|
||
Al-Gazali L,
|
||
Várady E,
|
||
Nork M,
|
||
Varughese M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
1998 Apr;18(4):362-5.
|
||
doi: 10.1016/s0887-8994(97)00213-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9588537" target="_blank">9588537</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebral%20morphology%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 (13254)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30540029">From anatomy to function: the role of the somatosensory cortex in emotional regulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kropf E,
|
||
Syan SK,
|
||
Minuzzi L,
|
||
Frey BN</span><br />
|
||
<span class="medgenPMjournal">Braz J Psychiatry</span>
|
||
2019 May-Jun;41(3):261-269.
|
||
Epub 2018 Dec 6
|
||
doi: 10.1590/1516-4446-2018-0183.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30540029" target="_blank">30540029</a><a href="/pmc/articles/PMC6794131" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29643480">The basal ganglia and the cerebellum: nodes in an integrated network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bostan AC,
|
||
Strick PL</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurosci</span>
|
||
2018 Jun;19(6):338-350.
|
||
doi: 10.1038/s41583-018-0002-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29643480" target="_blank">29643480</a><a href="/pmc/articles/PMC6503669" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27620360">The neuroanatomy of autism - a developmental perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Donovan AP,
|
||
Basson MA</span><br />
|
||
<span class="medgenPMjournal">J Anat</span>
|
||
2017 Jan;230(1):4-15.
|
||
Epub 2016 Sep 12
|
||
doi: 10.1111/joa.12542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27620360" target="_blank">27620360</a><a href="/pmc/articles/PMC5192959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22497611">Malformations of cortical development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aronica E,
|
||
Becker AJ,
|
||
Spreafico R</span><br />
|
||
<span class="medgenPMjournal">Brain Pathol</span>
|
||
2012 May;22(3):380-401.
|
||
doi: 10.1111/j.1750-3639.2012.00581.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22497611" target="_blank">22497611</a><a href="/pmc/articles/PMC8092961" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17999896">Update on epilepsy and cerebral localization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartman AL,
|
||
Lesser RP</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2007 Nov;7(6):498-507.
|
||
doi: 10.1007/s11910-007-0077-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17999896" target="_blank">17999896</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebral%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 (18278)</a></div></div>
|
||
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|
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|
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/36899092">ICA agenesis with transcavernous anastomosis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaudhary RK,
|
||
Groskreutz D,
|
||
Gupta E,
|
||
Baghdadi Y,
|
||
Smith S,
|
||
Sapire J</span><br />
|
||
<span class="medgenPMjournal">Surg Radiol Anat</span>
|
||
2023 Jun;45(6):777-786.
|
||
Epub 2023 Mar 11
|
||
doi: 10.1007/s00276-023-03117-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36899092" target="_blank">36899092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36675177">Rationale for a Multi-Factorial Approach for the Reversal of Cognitive Decline in Alzheimer's Disease and MCI: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rao RV,
|
||
Subramaniam KG,
|
||
Gregory J,
|
||
Bredesen AL,
|
||
Coward C,
|
||
Okada S,
|
||
Kelly L,
|
||
Bredesen DE</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jan 14;24(2)
|
||
doi: 10.3390/ijms24021659.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36675177" target="_blank">36675177</a><a href="/pmc/articles/PMC9865291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35668159">A systematic review and meta-analysis of long term physical and mental sequelae of COVID-19 pandemic: call for research priority and action.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeng N,
|
||
Zhao YM,
|
||
Yan W,
|
||
Li C,
|
||
Lu QD,
|
||
Liu L,
|
||
Ni SY,
|
||
Mei H,
|
||
Yuan K,
|
||
Shi L,
|
||
Li P,
|
||
Fan TT,
|
||
Yuan JL,
|
||
Vitiello MV,
|
||
Kosten T,
|
||
Kondratiuk AL,
|
||
Sun HQ,
|
||
Tang XD,
|
||
Liu MY,
|
||
Lalvani A,
|
||
Shi J,
|
||
Bao YP,
|
||
Lu L</span><br />
|
||
<span class="medgenPMjournal">Mol Psychiatry</span>
|
||
2023 Jan;28(1):423-433.
|
||
Epub 2022 Jun 6
|
||
doi: 10.1038/s41380-022-01614-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35668159" target="_blank">35668159</a><a href="/pmc/articles/PMC9168643" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32244180">Metabolic dysfunction in polycystic ovary syndrome: Pathogenic role of androgen excess and potential therapeutic strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sanchez-Garrido MA,
|
||
Tena-Sempere M</span><br />
|
||
<span class="medgenPMjournal">Mol Metab</span>
|
||
2020 May;35:100937.
|
||
Epub 2020 Feb 5
|
||
doi: 10.1016/j.molmet.2020.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32244180" target="_blank">32244180</a><a href="/pmc/articles/PMC7115104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/27297122">Impact of fetal alcohol exposure on body systems: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caputo C,
|
||
Wood E,
|
||
Jabbour L</span><br />
|
||
<span class="medgenPMjournal">Birth Defects Res C Embryo Today</span>
|
||
2016 Jun;108(2):174-80.
|
||
Epub 2016 Jun 13
|
||
doi: 10.1002/bdrc.21129.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27297122" target="_blank">27297122</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cerebral%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 (406)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20cerebral%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormal%20cerebral%20morphology%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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