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106 KiB
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<!--
|
||
UID=468402
|
||
ConceptID=CN118023
|
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-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Intermediate phenotype</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>468402</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN118023</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0699743[DISCUI]&test_type=Clinical" ref="ncbi_uid=147063">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=147063" ref="ncbi_uid=147063">V</a></span></span><span class="TLline"><a href="/medgen/147063" ref="tree=GTR&ncbi_uid=147063&link_uid=147063" title="View MedGen record for 'Congenital muscular dystrophy'">Congenital muscular dystrophy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN117976[DISCUI]&test_type=Clinical" ref="ncbi_uid=468393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1503/" ref="ncbi_uid=468393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468393" ref="ncbi_uid=468393">V</a></span></span><span class="TLline"><a href="/medgen/468393" ref="tree=GTR&ncbi_uid=468393&link_uid=468393" title="View MedGen record for 'Collagen 6-related myopathy'">Collagen 6-related myopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN029274[DISCUI]&test_type=Clinical" ref="ncbi_uid=893688">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1503/" ref="ncbi_uid=893688">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=893688" ref="ncbi_uid=893688">V</a></span></span><span class="TLline"><a href="/medgen/893688" ref="tree=GTR&ncbi_uid=893688&link_uid=893688" title="View MedGen record for 'Bethlem myopathy 1A'">Bethlem myopathy 1A</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Intermediate phenotype</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410179[DISCUI]&test_type=Clinical" ref="ncbi_uid=98046">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98046" target="_blank" href="/omim/254090">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1503/" ref="ncbi_uid=98046">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98046" ref="ncbi_uid=98046">V</a></span></span><span class="TLline"><a href="/medgen/98046" ref="tree=GTR&ncbi_uid=98046&link_uid=98046" title="View MedGen record for 'Ullrich congenital muscular dystrophy 1A'">Ullrich congenital muscular dystrophy 1A</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346746" target="_blank" href="/omim/604801">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/346746" ref="tree=GTR&ncbi_uid=346746&link_uid=346746" title="View MedGen record for 'Congenital muscular dystrophy 1B'">Congenital muscular dystrophy 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750786[DISCUI]&test_type=Clinical" ref="ncbi_uid=413044">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413044" target="_blank" href="/omim/600536">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413044" ref="ncbi_uid=413044">V</a></span></span><span class="TLline"><a href="/medgen/413044" ref="tree=GTR&ncbi_uid=413044&link_uid=413044" title="View MedGen record for 'Congenital muscular dystrophy due to integrin alpha-7 deficiency'">Congenital muscular dystrophy due to integrin alpha-7 deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410180[DISCUI]&test_type=Clinical" ref="ncbi_uid=98047">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0410180[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=98047">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98047" target="_blank" href="/omim/602771">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98047" ref="ncbi_uid=98047">V</a></span></span><span class="TLline"><a href="/medgen/98047" ref="tree=GTR&ncbi_uid=98047&link_uid=98047" title="View MedGen record for 'Eichsfeld type congenital muscular dystrophy'">Eichsfeld type congenital muscular dystrophy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5679788[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826054">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK97333/" ref="ncbi_uid=1826054">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826054" ref="ncbi_uid=1826054">V</a></span></span><span class="TLline"><a href="/medgen/1826054" ref="tree=GTR&ncbi_uid=1826054&link_uid=1826054" title="View MedGen record for 'LAMA2-related muscular dystrophy'">LAMA2-related muscular dystrophy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842898[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=335826">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335826" target="_blank" href="/omim/156225">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335826" ref="ncbi_uid=335826">V</a></span></span><span class="TLline"><a href="/medgen/335826" ref="tree=GTR&ncbi_uid=335826&link_uid=335826" title="View MedGen record for 'Congenital muscular dystrophy due to partial LAMA2 deficiency'">Congenital muscular dystrophy due to partial LAMA2 deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1263858[DISCUI]&test_type=Clinical" ref="ncbi_uid=224728">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=224728" target="_blank" href="/omim/156225">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK84550%20OR%20NBK97333)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=224728">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=224728" ref="ncbi_uid=224728">V</a></span></span><span class="TLline"><a href="/medgen/224728" ref="tree=GTR&ncbi_uid=224728&link_uid=224728" title="View MedGen record for 'Merosin deficient congenital muscular dystrophy'">Merosin deficient congenital muscular dystrophy</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270962[DISCUI]&test_type=Clinical" ref="ncbi_uid=75731">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0270962[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=75731">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75731" ref="ncbi_uid=75731">V</a></span></span><span class="TLline"><a href="/medgen/75731" ref="tree=GTR&ncbi_uid=75731&link_uid=75731" title="View MedGen record for 'Multiminicore myopathy'">Multiminicore myopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5830701[DISCUI]&test_type=Clinical" ref="ncbi_uid=1841337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841337" target="_blank" href="/omim/117000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841337" ref="ncbi_uid=1841337">V</a></span></span><span class="TLline"><a href="/medgen/1841337" ref="tree=GTR&ncbi_uid=1841337&link_uid=1841337" title="View MedGen record for 'Central core myopathy'">Central core myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850674[DISCUI]&test_type=Clinical" ref="ncbi_uid=340597">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340597" target="_blank" href="/omim/180901">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340597" ref="ncbi_uid=340597">V</a></span></span><span class="TLline"><a href="/medgen/340597" ref="tree=GTR&ncbi_uid=340597&link_uid=340597" title="View MedGen record for 'Congenital multicore myopathy with external ophthalmoplegia'">Congenital multicore myopathy with external ophthalmoplegia</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0457133[DISCUI]&test_type=Clinical" ref="ncbi_uid=105341">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=105341" ref="ncbi_uid=105341">V</a></span></span><span class="TLline"><a href="/medgen/105341" ref="tree=GTR&ncbi_uid=105341&link_uid=105341" title="View MedGen record for 'Muscle eye brain disease'">Muscle eye brain disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151519[DISCUI]&test_type=Clinical" ref="ncbi_uid=462869">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462869" target="_blank" href="/omim/253280">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462869" ref="ncbi_uid=462869">V</a></span></span><span class="TLline"><a href="/medgen/462869" ref="tree=GTR&ncbi_uid=462869&link_uid=462869" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751052[DISCUI]&test_type=Clinical" ref="ncbi_uid=413465">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413465" target="_blank" href="/omim/607440">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413465" ref="ncbi_uid=413465">V</a></span></span><span class="TLline"><a href="/medgen/413465" ref="tree=GTR&ncbi_uid=413465&link_uid=413465" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4'">Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2936406[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=423526">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=423526" ref="ncbi_uid=423526">V</a></span></span><span class="TLline"><a href="/medgen/423526" ref="tree=GTR&ncbi_uid=423526&link_uid=423526" title="View MedGen record for 'Qualitative or quantitative defects of alpha-dystroglycan'">Qualitative or quantitative defects of alpha-dystroglycan</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410174[DISCUI]&test_type=Clinical" ref="ncbi_uid=140820">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=140820" target="_blank" href="/omim/253800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1206/" ref="ncbi_uid=140820">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=140820" ref="ncbi_uid=140820">V</a></span></span><span class="TLline"><a href="/medgen/140820" ref="tree=GTR&ncbi_uid=140820&link_uid=140820" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4284790[DISCUI]&test_type=Clinical" ref="ncbi_uid=924974">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=924974" target="_blank" href="/omim/236670">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=924974" ref="ncbi_uid=924974">V</a></span></span><span class="TLline"><a href="/medgen/924974" ref="tree=GTR&ncbi_uid=924974&link_uid=924974" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809216[DISCUI]&test_type=Clinical" ref="ncbi_uid=815546">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815546" target="_blank" href="/omim/615320">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815546" ref="ncbi_uid=815546">V</a></span></span><span class="TLline"><a href="/medgen/815546" ref="tree=GTR&ncbi_uid=815546&link_uid=815546" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150413[DISCUI]&test_type=Clinical" ref="ncbi_uid=461763">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=461763" target="_blank" href="/omim/606596">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=461763" ref="ncbi_uid=461763">V</a></span></span><span class="TLline"><a href="/medgen/461763" ref="tree=GTR&ncbi_uid=461763&link_uid=461763" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847759[DISCUI]&test_type=Clinical" ref="ncbi_uid=335764">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335764" target="_blank" href="/omim/606612">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335764" ref="ncbi_uid=335764">V</a></span></span><span class="TLline"><a href="/medgen/335764" ref="tree=GTR&ncbi_uid=335764&link_uid=335764" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy type B5'">Muscular dystrophy-dystroglycanopathy type B5</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/147063" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy">Congenital muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/468393" ref="tree=MeSH" title="MedGen record for Collagen 6-related myopathy">Collagen 6-related myopathy</a></span><ul><li><span class="matched_ds">Intermediate phenotype</span></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>
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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/30381236">Impaired inhibition as an intermediate phenotype for PTSD risk and treatment response.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">van Rooij SJH,
|
||
Jovanovic T</span><br />
|
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<span class="medgenPMjournal">Prog Neuropsychopharmacol Biol Psychiatry</span>
|
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2019 Mar 8;89:435-445.
|
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Epub 2018 Oct 28
|
||
doi: 10.1016/j.pnpbp.2018.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30381236" target="_blank">30381236</a><a href="/pmc/articles/PMC6349256" 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/28805828">Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Braun DA,
|
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Rao J,
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Mollet G,
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Schapiro D,
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Daugeron MC,
|
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Tan W,
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Gribouval O,
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Boyer O,
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Revy P,
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Jobst-Schwan T,
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Schmidt JM,
|
||
Lawson JA,
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Schanze D,
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Ashraf S,
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Ullmann JFP,
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Hoogstraten CA,
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Boddaert N,
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Collinet B,
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Martin G,
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Liger D,
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Lovric S,
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Furlano M,
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Guerrera IC,
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Sanchez-Ferras O,
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Hu JF,
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Boschat AC,
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Sanquer S,
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Menten B,
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Vergult S,
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De Rocker N,
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Airik M,
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Hermle T,
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Shril S,
|
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Widmeier E,
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Gee HY,
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Choi WI,
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Sadowski CE,
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Pabst WL,
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Warejko JK,
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Daga A,
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Basta T,
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Matejas V,
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Scharmann K,
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Kienast SD,
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Behnam B,
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Beeson B,
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Begtrup A,
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Bruce M,
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Ch'ng GS,
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Lin SP,
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Chang JH,
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Chen CH,
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Cho MT,
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Gaffney PM,
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Gipson PE,
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Hsu CH,
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Kari JA,
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Ke YY,
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Kiraly-Borri C,
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Lai WM,
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Lemyre E,
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Littlejohn RO,
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Masri A,
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Moghtaderi M,
|
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Nakamura K,
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Ozaltin F,
|
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Praet M,
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Prasad C,
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Prytula A,
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Roeder ER,
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Rump P,
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Schnur RE,
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Shiihara T,
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Sinha MD,
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Soliman NA,
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Soulami K,
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Sweetser DA,
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Tsai WH,
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Tsai JD,
|
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Topaloglu R,
|
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Vester U,
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Viskochil DH,
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Vatanavicharn N,
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Waxler JL,
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Wierenga KJ,
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Wolf MTF,
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Truglio G,
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Dedon PC,
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Poduri A,
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Mane S,
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Lifton RP,
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Bouchard M,
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Kannu P,
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Chitayat D,
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Magen D,
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Callewaert B,
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||
van Tilbeurgh H,
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Zenker M,
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Antignac C,
|
||
Hildebrandt F</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2017 Oct;49(10):1529-1538.
|
||
Epub 2017 Aug 14
|
||
doi: 10.1038/ng.3933.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28805828" target="_blank">28805828</a><a href="/pmc/articles/PMC5819591" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25733956">Intermediate phenotypes and biomarkers of treatment outcome in major depressive disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leuchter AF,
|
||
Hunter AM,
|
||
Krantz DE,
|
||
Cook IA</span><br />
|
||
<span class="medgenPMjournal">Dialogues Clin Neurosci</span>
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2014 Dec;16(4):525-37.
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||
doi: 10.31887/DCNS.2014.16.4/aleuchter.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25733956" target="_blank">25733956</a><a href="/pmc/articles/PMC4336921" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22intermediate%20phenotype%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (41)</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/38225249">Large scale plasma proteomics identifies novel proteins and protein networks associated with heart failure development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah AM,
|
||
Myhre PL,
|
||
Arthur V,
|
||
Dorbala P,
|
||
Rasheed H,
|
||
Buckley LF,
|
||
Claggett B,
|
||
Liu G,
|
||
Ma J,
|
||
Nguyen NQ,
|
||
Matsushita K,
|
||
Ndumele C,
|
||
Tin A,
|
||
Hveem K,
|
||
Jonasson C,
|
||
Dalen H,
|
||
Boerwinkle E,
|
||
Hoogeveen RC,
|
||
Ballantyne C,
|
||
Coresh J,
|
||
Omland T,
|
||
Yu B</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2024 Jan 15;15(1):528.
|
||
doi: 10.1038/s41467-023-44680-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38225249" target="_blank">38225249</a><a href="/pmc/articles/PMC10789789" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34740451">Advances in integrative African genomics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang C,
|
||
Hansen MEB,
|
||
Tishkoff SA</span><br />
|
||
<span class="medgenPMjournal">Trends Genet</span>
|
||
2022 Feb;38(2):152-168.
|
||
Epub 2021 Nov 2
|
||
doi: 10.1016/j.tig.2021.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34740451" target="_blank">34740451</a><a href="/pmc/articles/PMC8752515" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26363129">Cognitive intermediate phenotype and genetic risk for psychosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mark W,
|
||
Toulopoulou T</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurobiol</span>
|
||
2016 Feb;36:23-30.
|
||
Epub 2015 Sep 9
|
||
doi: 10.1016/j.conb.2015.08.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26363129" target="_blank">26363129</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21309106">Genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Domschke K,
|
||
Deckert J</span><br />
|
||
<span class="medgenPMjournal">Curr Top Behav Neurosci</span>
|
||
2010;2:63-75.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21309106" target="_blank">21309106</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16198986">Mammographic breast density as an intermediate phenotype for breast cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boyd NF,
|
||
Rommens JM,
|
||
Vogt K,
|
||
Lee V,
|
||
Hopper JL,
|
||
Yaffe MJ,
|
||
Paterson AD</span><br />
|
||
<span class="medgenPMjournal">Lancet Oncol</span>
|
||
2005 Oct;6(10):798-808.
|
||
doi: 10.1016/S1470-2045(05)70390-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16198986" target="_blank">16198986</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intermediate%20phenotype%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 (464)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39341730">Toward actionable neural markers of depression risk?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pizzagalli DA</span><br />
|
||
<span class="medgenPMjournal">Trends Neurosci</span>
|
||
2024 Nov;47(11):851-852.
|
||
Epub 2024 Sep 27
|
||
doi: 10.1016/j.tins.2024.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39341730" target="_blank">39341730</a><a href="/pmc/articles/PMC11563912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32823201">Difficulties maintaining prolonged fixation and attention-deficit/hyperactivity symptoms share genetic influences in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falck-Ytter T,
|
||
Pettersson E,
|
||
Bölte S,
|
||
D'Onofrio B,
|
||
Lichtenstein P,
|
||
Kennedy DP</span><br />
|
||
<span class="medgenPMjournal">Psychiatry Res</span>
|
||
2020 Nov;293:113384.
|
||
Epub 2020 Aug 18
|
||
doi: 10.1016/j.psychres.2020.113384.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32823201" target="_blank">32823201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30590482">Genetics of Human Primary Hypertension: Focus on Hormonal Mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manosroi W,
|
||
Williams GH</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2019 Jun 1;40(3):825-856.
|
||
doi: 10.1210/er.2018-00071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30590482" target="_blank">30590482</a><a href="/pmc/articles/PMC6936319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20464531">Metabolomics and atherosclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goonewardena SN,
|
||
Prevette LE,
|
||
Desai AA</span><br />
|
||
<span class="medgenPMjournal">Curr Atheroscler Rep</span>
|
||
2010 Jul;12(4):267-72.
|
||
doi: 10.1007/s11883-010-0112-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20464531" target="_blank">20464531</a><a href="/pmc/articles/PMC3616403" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16988657">Intermediate phenotypes and genetic mechanisms of psychiatric disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyer-Lindenberg A,
|
||
Weinberger DR</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurosci</span>
|
||
2006 Oct;7(10):818-27.
|
||
doi: 10.1038/nrn1993.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16988657" target="_blank">16988657</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intermediate%20phenotype%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 (281)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38703276">Unveiling Promising Neuroimaging Biomarkers for Schizophrenia Through Clinical and Genetic Perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo J,
|
||
He C,
|
||
Song H,
|
||
Gao H,
|
||
Yao S,
|
||
Dong SS,
|
||
Yang TL</span><br />
|
||
<span class="medgenPMjournal">Neurosci Bull</span>
|
||
2024 Sep;40(9):1333-1352.
|
||
Epub 2024 May 4
|
||
doi: 10.1007/s12264-024-01214-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38703276" target="_blank">38703276</a><a href="/pmc/articles/PMC11365900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38225249">Large scale plasma proteomics identifies novel proteins and protein networks associated with heart failure development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah AM,
|
||
Myhre PL,
|
||
Arthur V,
|
||
Dorbala P,
|
||
Rasheed H,
|
||
Buckley LF,
|
||
Claggett B,
|
||
Liu G,
|
||
Ma J,
|
||
Nguyen NQ,
|
||
Matsushita K,
|
||
Ndumele C,
|
||
Tin A,
|
||
Hveem K,
|
||
Jonasson C,
|
||
Dalen H,
|
||
Boerwinkle E,
|
||
Hoogeveen RC,
|
||
Ballantyne C,
|
||
Coresh J,
|
||
Omland T,
|
||
Yu B</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2024 Jan 15;15(1):528.
|
||
doi: 10.1038/s41467-023-44680-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38225249" target="_blank">38225249</a><a href="/pmc/articles/PMC10789789" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22415699">On the choice of parameterisation and priors for the Bayesian analyses of Mendelian randomisation studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones EM,
|
||
Thompson JR,
|
||
Didelez V,
|
||
Sheehan NA</span><br />
|
||
<span class="medgenPMjournal">Stat Med</span>
|
||
2012 Jun 30;31(14):1483-501.
|
||
Epub 2012 Mar 13
|
||
doi: 10.1002/sim.4499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22415699" target="_blank">22415699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12899873">X-inactivation patterns in carriers of X-linked myotubular myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kristiansen M,
|
||
Knudsen GP,
|
||
Tanner SM,
|
||
McEntagart M,
|
||
Jungbluth H,
|
||
Muntoni F,
|
||
Sewry C,
|
||
Gallati S,
|
||
Ørstavik KH,
|
||
Wallgren-Pettersson C</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2003 Aug;13(6):468-71.
|
||
doi: 10.1016/s0960-8966(03)00067-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12899873" target="_blank">12899873</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11294477">The visual backward masking deficit in schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McClure RK</span><br />
|
||
<span class="medgenPMjournal">Prog Neuropsychopharmacol Biol Psychiatry</span>
|
||
2001 Feb;25(2):301-11.
|
||
doi: 10.1016/s0278-5846(00)00166-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11294477" target="_blank">11294477</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intermediate%20phenotype%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 (119)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38804617">Integrative multiomics analysis identifies molecular subtypes and potential targets of hepatocellular carcinoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang S,
|
||
Zheng L,
|
||
Li L,
|
||
Zhang J,
|
||
Wang J,
|
||
Zhao H,
|
||
Chen Y,
|
||
Liu X,
|
||
Gan H,
|
||
Chen J,
|
||
Yan M,
|
||
He C,
|
||
Li K,
|
||
Ding C,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">Clin Transl Med</span>
|
||
2024 Jun;14(6):e1727.
|
||
doi: 10.1002/ctm2.1727.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38804617" target="_blank">38804617</a><a href="/pmc/articles/PMC11131356" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26487806">The overlap between anxiety, depression, and obsessive-compulsive disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goodwin GM</span><br />
|
||
<span class="medgenPMjournal">Dialogues Clin Neurosci</span>
|
||
2015 Sep;17(3):249-60.
|
||
doi: 10.31887/DCNS.2015.17.3/ggoodwin.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26487806" target="_blank">26487806</a><a href="/pmc/articles/PMC4610610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24944287">Genetic variants related to height and risk of atrial fibrillation: the cardiovascular health study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg MA,
|
||
Kaplan RC,
|
||
Siscovick DS,
|
||
Psaty BM,
|
||
Heckbert SR,
|
||
Newton-Cheh C,
|
||
Mukamal KJ</span><br />
|
||
<span class="medgenPMjournal">Am J Epidemiol</span>
|
||
2014 Jul 15;180(2):215-22.
|
||
Epub 2014 Jun 18
|
||
doi: 10.1093/aje/kwu126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24944287" target="_blank">24944287</a><a href="/pmc/articles/PMC4082343" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18838036">The changing impact of genes and environment on brain development during childhood and adolescence: initial findings from a neuroimaging study of pediatric twins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenroot RK,
|
||
Giedd JN</span><br />
|
||
<span class="medgenPMjournal">Dev Psychopathol</span>
|
||
2008 Fall;20(4):1161-75.
|
||
doi: 10.1017/S0954579408000552.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18838036" target="_blank">18838036</a><a href="/pmc/articles/PMC2892674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14992975">Prefrontal broadband noise, working memory, and genetic risk for schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winterer G,
|
||
Coppola R,
|
||
Goldberg TE,
|
||
Egan MF,
|
||
Jones DW,
|
||
Sanchez CE,
|
||
Weinberger DR</span><br />
|
||
<span class="medgenPMjournal">Am J Psychiatry</span>
|
||
2004 Mar;161(3):490-500.
|
||
doi: 10.1176/appi.ajp.161.3.490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14992975" target="_blank">14992975</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intermediate%20phenotype%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 (195)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33637594">Human airway mast cells proliferate and acquire distinct inflammation-driven phenotypes during type 2 inflammation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwyer DF,
|
||
Ordovas-Montanes J,
|
||
Allon SJ,
|
||
Buchheit KM,
|
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Vukovic M,
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Derakhshan T,
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Feng C,
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Lai J,
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Hughes TK,
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Nyquist SK,
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Giannetti MP,
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Roditi RE,
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Berg M,
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Boyce JA</span><br />
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2021 Feb 26;6(56)
|
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doi: 10.1126/sciimmunol.abb7221.
|
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<span class="bold">PMID: </span><a href="/pubmed/33637594" target="_blank">33637594</a><a href="/pmc/articles/PMC8362933" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/26363129">Cognitive intermediate phenotype and genetic risk for psychosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mark W,
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2016 Feb;36:23-30.
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<span class="bold">PMID: </span><a href="/pubmed/26363129" target="_blank">26363129</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26349599">Genetics of emotional reactivity in bipolar disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mathieu F,
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Etain B,
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Dizier MH,
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Lajnef M,
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Cabon C,
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Leboyer M,
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2015 Dec 1;188:101-6.
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<span class="bold">PMID: </span><a href="/pubmed/26349599" target="_blank">26349599</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/23884550">Disc degeneration-related clinical phenotypes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Battié MC,
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Lazáry A,
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Fairbank J,
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Heywood C,
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<span class="medgenPMjournal">Eur Spine J</span>
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2014 Jun;23 Suppl 3:S305-14.
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<span class="bold">PMID: </span><a href="/pubmed/23884550" target="_blank">23884550</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/11294477">The visual backward masking deficit in schizophrenia.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">McClure RK</span><br />
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<span class="medgenPMjournal">Prog Neuropsychopharmacol Biol Psychiatry</span>
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2001 Feb;25(2):301-11.
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<span class="bold">PMID: </span><a href="/pubmed/11294477" target="_blank">11294477</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intermediate%20phenotype%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 (358)</a></div></div>
|
||
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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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|
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<div class="nl"><a target="_blank" href="/pubmed/33175450">Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gómez-Garre P,
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||
Jesús S,
|
||
Periñán MT,
|
||
Adarmes A,
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||
Alonso-Canovas A,
|
||
Blanco-Ollero A,
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||
Buiza-Rueda D,
|
||
Carrillo F,
|
||
Catalán-Alonso MJ,
|
||
Del Val J,
|
||
Escamilla-Sevilla F,
|
||
Espinosa-Rosso R,
|
||
Fernández-Moreno MC,
|
||
García-Moreno JM,
|
||
García-Ruiz PJ,
|
||
Giacometti-Silveira S,
|
||
Gutiérrez-García J,
|
||
López-Valdés E,
|
||
Macías-García D,
|
||
Martínez-Castrillo JC,
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||
Martínez-Torres I,
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||
Medialdea-Natera MP,
|
||
Mínguez-Castellanos A,
|
||
Moya MÁ,
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||
Ochoa-Sepulveda JJ,
|
||
Ojea T,
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||
Rodríguez N,
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||
Sillero-Sánchez M,
|
||
Tejera-Parrado C,
|
||
Mir P</span><br />
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||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2021 Apr;28(4):1188-1197.
|
||
Epub 2020 Dec 6
|
||
doi: 10.1111/ene.14638.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33175450" target="_blank">33175450</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30444299">Neural signatures of the risk for bipolar disorder: A meta-analysis of structural and functional neuroimaging studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cattarinussi G,
|
||
Di Giorgio A,
|
||
Wolf RC,
|
||
Balestrieri M,
|
||
Sambataro F</span><br />
|
||
<span class="medgenPMjournal">Bipolar Disord</span>
|
||
2019 May;21(3):215-227.
|
||
Epub 2018 Dec 14
|
||
doi: 10.1111/bdi.12720.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30444299" target="_blank">30444299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29410313">Motor dysfunction as research domain in the period preceding manifest schizophrenia: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirjak D,
|
||
Meyer-Lindenberg A,
|
||
Kubera KM,
|
||
Thomann PA,
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Wolf RC</span><br />
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<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
|
||
2018 Apr;87:87-105.
|
||
Epub 2018 Feb 20
|
||
doi: 10.1016/j.neubiorev.2018.01.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29410313" target="_blank">29410313</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20160191">Genetic effects on carotid intima-media thickness: systematic assessment and meta-analyses of candidate gene polymorphisms studied in more than 5000 subjects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paternoster L,
|
||
Martinez-Gonzalez NA,
|
||
Charleton R,
|
||
Chung M,
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||
Lewis S,
|
||
Sudlow CL</span><br />
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||
<span class="medgenPMjournal">Circ Cardiovasc Genet</span>
|
||
2010 Feb;3(1):15-21.
|
||
Epub 2009 Dec 11
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doi: 10.1161/CIRCGENETICS.108.834366.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20160191" target="_blank">20160191</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18063831">Association between apolipoprotein E genotype and carotid intima-media thickness may suggest a specific effect on large artery atherothrombotic stroke.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paternoster L,
|
||
Martínez González NA,
|
||
Lewis S,
|
||
Sudlow C</span><br />
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||
<span class="medgenPMjournal">Stroke</span>
|
||
2008 Jan;39(1):48-54.
|
||
Epub 2007 Dec 6
|
||
doi: 10.1161/STROKEAHA.107.488866.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18063831" target="_blank">18063831</a><a href="/pmc/articles/PMC2577179" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Intermediate%20phenotype%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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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<a href="/pubmed?term=Intermediate%20phenotype%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4083e2f30673f7b09e2a5">Intermediate phenotype</a>
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<div class="ralinkpop offscreen_noflow">Intermediate phenotype<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d4083b84f3725e594dc167">Bethlem myopathy 1A</a>
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