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<meta name="keywords" content="C4310721, cild35, ciliary dyskinesia, primary, 35, ciliary dyskinesia, primary, 35, with or without situs inversus, ciliary dyskinesia, primary, type 35, disease or syndrome, odad4, primary ciliary dyskinesia 35, primary ciliary dyskinesia 35 with or without situs inversus, primary ciliary dyskinesia caused by mutation in ttc25, primary ciliary dyskinesia type 35, ttc25 primary ciliary dyskinesia, 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="Primary ciliary dyskinesia-35 (CILD35) is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=934688
|
||
ConceptID=C4310721
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Primary ciliary dyskinesia 35<span class="h1sub">(CILD35)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934688</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:">C4310721</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>CILIARY DYSKINESIA, PRIMARY, 35, WITH OR WITHOUT SITUS INVERSUS</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ODAD4 - ID: 83538 - NCBI Gene" href="/gene/83538" class="medgenPMinfo">ODAD4</a> (17q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014910" target="_blank">MONDO:0014910</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617092" target="_blank">617092</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Primary ciliary dyskinesia-35 (CILD35) is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1642262"><div><strong>Situs inversus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642262</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.">C4551493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1642262">Feature record</a> | <a href="/medgen?term=%22Situs%20inversus%22%5BClinical%20Features%5D%20OR%201642262%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1622585"><div><strong>Abdominal situs ambiguus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1622585</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.">C4531036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1622585">Feature record</a> | <a href="/medgen?term=%22Abdominal%20situs%20ambiguus%22%5BClinical%20Features%5D%20OR%201622585%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14234"><div><strong>Bronchiectasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14234</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.">C0006267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14234">Feature record</a> | <a href="/medgen?term=%22Bronchiectasis%22%5BClinical%20Features%5D%20OR%2014234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66781"><div><strong>Productive cough</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66781</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.">C0239134</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cough that produces phlegm or mucus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66781">Feature record</a> | <a href="/medgen?term=%22Productive%20cough%22%5BClinical%20Features%5D%20OR%2066781%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195802"><div><strong>Recurrent pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195802</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.">C0694550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195802">Feature record</a> | <a href="/medgen?term=%22Recurrent%20pneumonia%22%5BClinical%20Features%5D%20OR%20195802%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_767344"><div><strong>Decreased nasal nitric oxide</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767344</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.">C3554430</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767344">Feature record</a> | <a href="/medgen?term=%22Decreased%20nasal%20nitric%20oxide%22%5BClinical%20Features%5D%20OR%20767344%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_924182"><div><strong>Neonatal respiratory distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924182</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.">C4281993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Respiratory difficulty as newborn.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924182">Feature record</a> | <a href="/medgen?term=%22Neonatal%20respiratory%20distress%22%5BClinical%20Features%5D%20OR%20924182%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101751"><div><strong>Chronic sinusitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101751</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.">C0149516</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A chronic form of sinusitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101751">Feature record</a> | <a href="/medgen?term=%22Chronic%20sinusitis%22%5BClinical%20Features%5D%20OR%20101751%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_75751"><div><strong>Chronic otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75751</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.">C0271441</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/75751">Feature record</a> | <a href="/medgen?term=%22Chronic%20otitis%20media%22%5BClinical%20Features%5D%20OR%2075751%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_3086"><div><strong>Chronic rhinitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3086</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.">C0008711</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Chronic inflammation of the nasal mucosa.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/3086">Feature record</a> | <a href="/medgen?term=%22Chronic%20rhinitis%22%5BClinical%20Features%5D%20OR%203086%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6524"><div><strong>Nasal polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6524</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.">C0027430</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6524">Feature record</a> | <a href="/medgen?term=%22Nasal%20polyposis%22%5BClinical%20Features%5D%20OR%206524%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3086" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic rhinitis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nasal polyposis</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1642262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Situs inversus</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic otitis media</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101751" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chronic sinusitis</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bronchiectasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_767344" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased nasal nitric oxide</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_924182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal respiratory distress</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66781" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Productive cough</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent pneumonia</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1622585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal situs ambiguus</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0008780[DISCUI]&test_type=Clinical" ref="ncbi_uid=3467">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0008780[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=3467">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=3467">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=3467" ref="ncbi_uid=3467">V</a></span></span><span class="TLline"><a href="/medgen/3467" ref="tree=GTR&ncbi_uid=3467&link_uid=3467" title="View MedGen record for 'Primary ciliary dyskinesia'">Primary ciliary dyskinesia</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=C4478372[DISCUI]&test_type=Clinical" ref="ncbi_uid=1393107">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1393107" target="_blank" href="/omim/300933">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=1393107" ref="ncbi_uid=1393107">V</a></span></span><span class="TLline"><a href="/medgen/1393107" ref="tree=GTR&ncbi_uid=1393107&link_uid=1393107" title="View MedGen record for 'Ciliary dyskinesia, primary, 36, X-linked'">Ciliary dyskinesia, primary, 36, X-linked</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=C4539798[DISCUI]&test_type=Clinical" ref="ncbi_uid=1615746">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1615746" target="_blank" href="/omim/603332">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=1615746" ref="ncbi_uid=1615746">V</a></span></span><span class="TLline"><a href="/medgen/1615746" ref="tree=GTR&ncbi_uid=1615746&link_uid=1615746" title="View MedGen record for 'Ciliary dyskinesia, primary, 37'">Ciliary dyskinesia, primary, 37</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=C4748052[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648465">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648465" target="_blank" href="/omim/618058">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=1648465" ref="ncbi_uid=1648465">V</a></span></span><span class="TLline"><a href="/medgen/1648465" ref="tree=GTR&ncbi_uid=1648465&link_uid=1648465" title="View MedGen record for 'Ciliary dyskinesia, primary, 38'">Ciliary dyskinesia, primary, 38</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=C4551906[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646059">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646059" target="_blank" href="/omim/244400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=1646059">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646059" ref="ncbi_uid=1646059">V</a></span></span><span class="TLline"><a href="/medgen/1646059" ref="tree=GTR&ncbi_uid=1646059&link_uid=1646059" title="View MedGen record for 'Kartagener syndrome'">Kartagener syndrome</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=C1847554[DISCUI]&test_type=Clinical" ref="ncbi_uid=338258">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338258" target="_blank" href="/omim/606763">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=338258">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338258" ref="ncbi_uid=338258">V</a></span></span><span class="TLline"><a href="/medgen/338258" ref="tree=GTR&ncbi_uid=338258&link_uid=338258" title="View MedGen record for 'Primary ciliary dyskinesia 2'">Primary ciliary dyskinesia 2</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=C1837618[DISCUI]&test_type=Clinical" ref="ncbi_uid=325210">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325210" target="_blank" href="/omim/603335">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=325210">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325210" ref="ncbi_uid=325210">V</a></span></span><span class="TLline"><a href="/medgen/325210" ref="tree=GTR&ncbi_uid=325210&link_uid=325210" title="View MedGen record for 'Primary ciliary dyskinesia 3'">Primary ciliary dyskinesia 3</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=C1837616[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=324841">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324841" target="_blank" href="/omim/608646">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=324841">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/324841" ref="tree=GTR&ncbi_uid=324841&link_uid=324841" title="View MedGen record for 'Primary ciliary dyskinesia 4'">Primary ciliary dyskinesia 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=C1837615[DISCUI]&test_type=Clinical" ref="ncbi_uid=324840">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324840" target="_blank" href="/omim/608647">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=324840">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324840" ref="ncbi_uid=324840">V</a></span></span><span class="TLline"><a href="/medgen/324840" ref="tree=GTR&ncbi_uid=324840&link_uid=324840" title="View MedGen record for 'Primary ciliary dyskinesia 5'">Primary ciliary dyskinesia 5</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=C1970506[DISCUI]&test_type=Clinical" ref="ncbi_uid=370930">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370930" target="_blank" href="/omim/607421">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=370930">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370930" ref="ncbi_uid=370930">V</a></span></span><span class="TLline"><a href="/medgen/370930" ref="tree=GTR&ncbi_uid=370930&link_uid=370930" title="View MedGen record for 'Primary ciliary dyskinesia 6'">Primary ciliary dyskinesia 6</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=C2678473[DISCUI]&test_type=Clinical" ref="ncbi_uid=394834">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394834" target="_blank" href="/omim/603339">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=394834">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394834" ref="ncbi_uid=394834">V</a></span></span><span class="TLline"><a href="/medgen/394834" ref="tree=GTR&ncbi_uid=394834&link_uid=394834" title="View MedGen record for 'Primary ciliary dyskinesia 7'">Primary ciliary dyskinesia 7</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=C2677085[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=393653">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393653" target="_blank" href="/omim/612274">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=393653">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/393653" ref="tree=GTR&ncbi_uid=393653&link_uid=393653" title="View MedGen record for 'Primary ciliary dyskinesia 8'">Primary ciliary dyskinesia 8</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=C2676235[DISCUI]&test_type=Clinical" ref="ncbi_uid=390990">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390990" target="_blank" href="/omim/605483">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=390990">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390990" ref="ncbi_uid=390990">V</a></span></span><span class="TLline"><a href="/medgen/390990" ref="tree=GTR&ncbi_uid=390990&link_uid=390990" title="View MedGen record for 'Primary ciliary dyskinesia 9'">Primary ciliary dyskinesia 9</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=C2675867[DISCUI]&test_type=Clinical" ref="ncbi_uid=382707">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382707" target="_blank" href="/omim/612517">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=382707">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382707" ref="ncbi_uid=382707">V</a></span></span><span class="TLline"><a href="/medgen/382707" ref="tree=GTR&ncbi_uid=382707&link_uid=382707" title="View MedGen record for 'Primary ciliary dyskinesia 10'">Primary ciliary dyskinesia 10</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=C2675229[DISCUI]&test_type=Clinical" ref="ncbi_uid=390741">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=390741" target="_blank" href="/omim/612647">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=390741">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=390741" ref="ncbi_uid=390741">V</a></span></span><span class="TLline"><a href="/medgen/390741" ref="tree=GTR&ncbi_uid=390741&link_uid=390741" title="View MedGen record for 'Primary ciliary dyskinesia 11'">Primary ciliary dyskinesia 11</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=C2675228[DISCUI]&test_type=Clinical" ref="ncbi_uid=436379">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436379" target="_blank" href="/omim/612648">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=436379">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436379" ref="ncbi_uid=436379">V</a></span></span><span class="TLline"><a href="/medgen/436379" ref="tree=GTR&ncbi_uid=436379&link_uid=436379" title="View MedGen record for 'Primary ciliary dyskinesia 12'">Primary ciliary dyskinesia 12</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=C2750790[DISCUI]&test_type=Clinical" ref="ncbi_uid=413399">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413399" target="_blank" href="/omim/613190">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=413399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413399" ref="ncbi_uid=413399">V</a></span></span><span class="TLline"><a href="/medgen/413399" ref="tree=GTR&ncbi_uid=413399&link_uid=413399" title="View MedGen record for 'Primary ciliary dyskinesia 13'">Primary ciliary dyskinesia 13</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=C3151136[DISCUI]&test_type=Clinical" ref="ncbi_uid=462486">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462486" target="_blank" href="/omim/613798">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=462486">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462486" ref="ncbi_uid=462486">V</a></span></span><span class="TLline"><a href="/medgen/462486" ref="tree=GTR&ncbi_uid=462486&link_uid=462486" title="View MedGen record for 'Primary ciliary dyskinesia 14'">Primary ciliary dyskinesia 14</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=C3151137[DISCUI]&test_type=Clinical" ref="ncbi_uid=462487">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462487" target="_blank" href="/omim/613799">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=462487">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462487" ref="ncbi_uid=462487">V</a></span></span><span class="TLline"><a href="/medgen/462487" ref="tree=GTR&ncbi_uid=462487&link_uid=462487" title="View MedGen record for 'Primary ciliary dyskinesia 15'">Primary ciliary dyskinesia 15</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=C3151460[DISCUI]&test_type=Clinical" ref="ncbi_uid=462810">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462810" target="_blank" href="/omim/610062">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=462810">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462810" ref="ncbi_uid=462810">V</a></span></span><span class="TLline"><a href="/medgen/462810" ref="tree=GTR&ncbi_uid=462810&link_uid=462810" title="View MedGen record for 'Primary ciliary dyskinesia 16'">Primary ciliary dyskinesia 16</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=C3542550[DISCUI]&test_type=Clinical" ref="ncbi_uid=762261">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762261" target="_blank" href="/omim/614677">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=762261">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762261" ref="ncbi_uid=762261">V</a></span></span><span class="TLline"><a href="/medgen/762261" ref="tree=GTR&ncbi_uid=762261&link_uid=762261" title="View MedGen record for 'Primary ciliary dyskinesia 17'">Primary ciliary dyskinesia 17</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=C3543825[DISCUI]&test_type=Clinical" ref="ncbi_uid=762331">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762331" target="_blank" href="/omim/614864">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=762331">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762331" ref="ncbi_uid=762331">V</a></span></span><span class="TLline"><a href="/medgen/762331" ref="tree=GTR&ncbi_uid=762331&link_uid=762331" title="View MedGen record for 'Primary ciliary dyskinesia 18'">Primary ciliary dyskinesia 18</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=C3543826[DISCUI]&test_type=Clinical" ref="ncbi_uid=762332">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762332" target="_blank" href="/omim/614930">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=762332">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762332" ref="ncbi_uid=762332">V</a></span></span><span class="TLline"><a href="/medgen/762332" ref="tree=GTR&ncbi_uid=762332&link_uid=762332" title="View MedGen record for 'Primary ciliary dyskinesia 19'">Primary ciliary dyskinesia 19</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=C3540844[DISCUI]&test_type=Clinical" ref="ncbi_uid=761920">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761920" target="_blank" href="/omim/615038">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=761920">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=761920" ref="ncbi_uid=761920">V</a></span></span><span class="TLline"><a href="/medgen/761920" ref="tree=GTR&ncbi_uid=761920&link_uid=761920" title="View MedGen record for 'Primary ciliary dyskinesia 20'">Primary ciliary dyskinesia 20</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=C3809087[DISCUI]&test_type=Clinical" ref="ncbi_uid=815417">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815417" target="_blank" href="/omim/615288">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815417">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815417" ref="ncbi_uid=815417">V</a></span></span><span class="TLline"><a href="/medgen/815417" ref="tree=GTR&ncbi_uid=815417&link_uid=815417" title="View MedGen record for 'Primary ciliary dyskinesia 21'">Primary ciliary dyskinesia 21</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=C3809543[DISCUI]&test_type=Clinical" ref="ncbi_uid=815873">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815873" target="_blank" href="/omim/607070">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815873">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815873" ref="ncbi_uid=815873">V</a></span></span><span class="TLline"><a href="/medgen/815873" ref="tree=GTR&ncbi_uid=815873&link_uid=815873" title="View MedGen record for 'Primary ciliary dyskinesia 22'">Primary ciliary dyskinesia 22</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=C3809548[DISCUI]&test_type=Clinical" ref="ncbi_uid=815878">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815878" target="_blank" href="/omim/615408">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815878">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815878" ref="ncbi_uid=815878">V</a></span></span><span class="TLline"><a href="/medgen/815878" ref="tree=GTR&ncbi_uid=815878&link_uid=815878" title="View MedGen record for 'Primary ciliary dyskinesia 23'">Primary ciliary dyskinesia 23</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=C3809634[DISCUI]&test_type=Clinical" ref="ncbi_uid=815964">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815964" target="_blank" href="/omim/609314">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815964">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815964" ref="ncbi_uid=815964">V</a></span></span><span class="TLline"><a href="/medgen/815964" ref="tree=GTR&ncbi_uid=815964&link_uid=815964" title="View MedGen record for 'Primary ciliary dyskinesia 24'">Primary ciliary dyskinesia 24</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=C3809641[DISCUI]&test_type=Clinical" ref="ncbi_uid=815971">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815971" target="_blank" href="/omim/608706">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=815971">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815971" ref="ncbi_uid=815971">V</a></span></span><span class="TLline"><a href="/medgen/815971" ref="tree=GTR&ncbi_uid=815971&link_uid=815971" title="View MedGen record for 'Primary ciliary dyskinesia 25'">Primary ciliary dyskinesia 25</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=C3809684[DISCUI]&test_type=Clinical" ref="ncbi_uid=816014">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816014" target="_blank" href="/omim/615500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=816014">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816014" ref="ncbi_uid=816014">V</a></span></span><span class="TLline"><a href="/medgen/816014" ref="tree=GTR&ncbi_uid=816014&link_uid=816014" title="View MedGen record for 'Primary ciliary dyskinesia 26'">Primary ciliary dyskinesia 26</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=C3809701[DISCUI]&test_type=Clinical" ref="ncbi_uid=816031">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816031" target="_blank" href="/omim/611088">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=816031">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816031" ref="ncbi_uid=816031">V</a></span></span><span class="TLline"><a href="/medgen/816031" ref="tree=GTR&ncbi_uid=816031&link_uid=816031" title="View MedGen record for 'Primary ciliary dyskinesia 27'">Primary ciliary dyskinesia 27</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=C3809706[DISCUI]&test_type=Clinical" ref="ncbi_uid=816036">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816036" target="_blank" href="/omim/603395">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=816036">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816036" ref="ncbi_uid=816036">V</a></span></span><span class="TLline"><a href="/medgen/816036" ref="tree=GTR&ncbi_uid=816036&link_uid=816036" title="View MedGen record for 'Primary ciliary dyskinesia 28'">Primary ciliary dyskinesia 28</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=C4014534[DISCUI]&test_type=Clinical" ref="ncbi_uid=862971">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=862971" target="_blank" href="/omim/607752">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=862971">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=862971" ref="ncbi_uid=862971">V</a></span></span><span class="TLline"><a href="/medgen/862971" ref="tree=GTR&ncbi_uid=862971&link_uid=862971" title="View MedGen record for 'Primary ciliary dyskinesia 29'">Primary ciliary dyskinesia 29</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=C4015016[DISCUI]&test_type=Clinical" ref="ncbi_uid=863453">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863453" target="_blank" href="/omim/615956">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1122/" ref="ncbi_uid=863453">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863453" ref="ncbi_uid=863453">V</a></span></span><span class="TLline"><a href="/medgen/863453" ref="tree=GTR&ncbi_uid=863453&link_uid=863453" title="View MedGen record for 'Primary ciliary dyskinesia 30'">Primary ciliary dyskinesia 30</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=C4225311[DISCUI]&test_type=Clinical" ref="ncbi_uid=896106">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=896106" target="_blank" href="/omim/615876">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=896106" ref="ncbi_uid=896106">V</a></span></span><span class="TLline"><a href="/medgen/896106" ref="tree=GTR&ncbi_uid=896106&link_uid=896106" title="View MedGen record for 'Primary ciliary dyskinesia 32'">Primary ciliary dyskinesia 32</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=C4225230[DISCUI]&test_type=Clinical" ref="ncbi_uid=898734">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=898734" target="_blank" href="/omim/605178">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=898734" ref="ncbi_uid=898734">V</a></span></span><span class="TLline"><a href="/medgen/898734" ref="tree=GTR&ncbi_uid=898734&link_uid=898734" title="View MedGen record for 'Primary ciliary dyskinesia 33'">Primary ciliary dyskinesia 33</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=C4310722[DISCUI]&test_type=Clinical" ref="ncbi_uid=934689">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934689" target="_blank" href="/omim/610263">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=934689" ref="ncbi_uid=934689">V</a></span></span><span class="TLline"><a href="/medgen/934689" ref="tree=GTR&ncbi_uid=934689&link_uid=934689" title="View MedGen record for 'Primary ciliary dyskinesia 34'">Primary ciliary dyskinesia 34</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310721[DISCUI]&test_type=Clinical" ref="ncbi_uid=934688">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934688" target="_blank" href="/omim/617092">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=934688" ref="ncbi_uid=934688">V</a></span></span><span class="TLline">Primary ciliary dyskinesia 35</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855705[DISCUI]&test_type=Clinical" ref="ncbi_uid=340938">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340938" target="_blank" href="/omim/243605">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK586170/" ref="ncbi_uid=340938">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340938" ref="ncbi_uid=340938">V</a></span></span><span class="TLline"><a href="/medgen/340938" ref="tree=GTR&ncbi_uid=340938&link_uid=340938" title="View MedGen record for 'Stromme syndrome'">Stromme syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866322" ref="tree=MeSH" title="MedGen record for Abnormality of the respiratory system">Abnormality of the respiratory system</a></span><ul><li><span class="TLline"><a href="/medgen/220360" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system physiology">Abnormal respiratory system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868585" ref="tree=MeSH" title="MedGen record for Abnormal respiratory motile cilium physiology">Abnormal respiratory motile cilium physiology</a></span><ul><li><span class="TLline"><a href="/medgen/868584" ref="tree=MeSH" title="MedGen record for Abnormal ciliary motility">Abnormal ciliary motility</a></span><ul><li><span class="TLline"><a href="/medgen/3467" ref="tree=MeSH" title="MedGen record for Primary ciliary dyskinesia">Primary ciliary dyskinesia</a></span><ul><li><span class="matched_ds">Primary ciliary dyskinesia 35</span></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 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/39201321">TAS2R38 Genotype Does Not Affect SARS-CoV-2 Infection in Primary Ciliary Dyskinesia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Piatti G,
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Girotto G,
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Concas MP,
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Braga L,
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Ambrosetti U,
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Aldè M</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2024 Aug 8;25(16)
|
||
doi: 10.3390/ijms25168635.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39201321" target="_blank">39201321</a><a href="/pmc/articles/PMC11354733" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28199173">Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shoemark A,
|
||
Frost E,
|
||
Dixon M,
|
||
Ollosson S,
|
||
Kilpin K,
|
||
Patel M,
|
||
Scully J,
|
||
Rogers AV,
|
||
Mitchison HM,
|
||
Bush A,
|
||
Hogg C</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2017 Jul 1;196(1):94-101.
|
||
doi: 10.1164/rccm.201607-1351OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28199173" target="_blank">28199173</a><a href="/pmc/articles/PMC5519960" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26139845">Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marshall CR,
|
||
Scherer SW,
|
||
Zariwala MA,
|
||
Lau L,
|
||
Paton TA,
|
||
Stockley T,
|
||
Jobling RK,
|
||
Ray PN,
|
||
Knowles MR;
|
||
FORGE Canada Consortium,
|
||
Hall DA,
|
||
Dell SD,
|
||
Kim RH</span><br />
|
||
<span class="medgenPMjournal">G3 (Bethesda)</span>
|
||
2015 Jul 2;5(8):1775-81.
|
||
doi: 10.1534/g3.115.019851.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26139845" target="_blank">26139845</a><a href="/pmc/articles/PMC4528333" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(primary%20ciliary%20dyskinesia%2035)%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 (7)</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/39695270">Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magee K,
|
||
McGonigle W,
|
||
Pressman R,
|
||
Thorson W,
|
||
Barbouth D,
|
||
Borja NA</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2025 Mar;70(3):177-179.
|
||
Epub 2024 Dec 19
|
||
doi: 10.1038/s10038-024-01312-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39695270" target="_blank">39695270</a><a href="/pmc/articles/PMC11802447" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39270696">Inhaled colistimethate sodium in patients with bronchiectasis and Pseudomonas aeruginosa infection: results of PROMIS-I and PROMIS-II, two randomised, double-blind, placebo-controlled phase 3 trials assessing safety and efficacy over 12 months.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haworth CS,
|
||
Shteinberg M,
|
||
Winthrop K,
|
||
Barker A,
|
||
Blasi F,
|
||
Dimakou K,
|
||
Morgan LC,
|
||
O'Donnell AE,
|
||
Ringshausen FC,
|
||
Sibila O,
|
||
Thomson RM,
|
||
Carroll KJ,
|
||
Pontenani F,
|
||
Castellani P,
|
||
Chalmers JD;
|
||
PROMIS trial investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2024 Oct;12(10):787-798.
|
||
Epub 2024 Sep 10
|
||
doi: 10.1016/S2213-2600(24)00225-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39270696" target="_blank">39270696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36990030">Evaluation of otorhinolaryngological manifestations in patients with primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Günaydın RÖ,
|
||
Eroğlu E,
|
||
Tellioğlu B,
|
||
Emiralioğlu N,
|
||
Özçelik HU,
|
||
Yalçın E,
|
||
Doğru D,
|
||
Kiper EN</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2023 May;168:111520.
|
||
Epub 2023 Mar 22
|
||
doi: 10.1016/j.ijporl.2023.111520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36990030" target="_blank">36990030</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36442147">Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinghorn B,
|
||
Rosenfeld M,
|
||
Sullivan E,
|
||
Onchiri F,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Zariwala MA,
|
||
Pittman JE,
|
||
Mollica F,
|
||
Tiddens HAWM,
|
||
Kemner-van de Corput M,
|
||
Knowles MR,
|
||
Davis SD,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Ann Am Thorac Soc</span>
|
||
2023 Apr;20(4):539-547.
|
||
doi: 10.1513/AnnalsATS.202206-524OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36442147" target="_blank">36442147</a><a href="/pmc/articles/PMC10112400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32551925">Sinus Development and Pneumatization in a Primary Ciliary Dyskinesia Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pappa AK,
|
||
Sullivan KM,
|
||
Lopez EM,
|
||
Adams KN,
|
||
Zanation AM,
|
||
Ebert CS Jr,
|
||
Thorp BD,
|
||
Senior BA,
|
||
Leigh MW,
|
||
Knowles MR,
|
||
Kimple AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Rhinol Allergy</span>
|
||
2021 Jan;35(1):72-76.
|
||
Epub 2020 Jun 19
|
||
doi: 10.1177/1945892420933175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32551925" target="_blank">32551925</a><a href="/pmc/articles/PMC7750665" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2035%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 (46)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38635862">Structural Lung Disease and Clinical Phenotype in Bronchiectasis Patients: The EMBARC CT Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pieters ALP,
|
||
van der Veer T,
|
||
Meerburg JJ,
|
||
Andrinopoulou ER,
|
||
van der Eerden MM,
|
||
Ciet P,
|
||
Aliberti S,
|
||
Burgel PR,
|
||
Crichton ML,
|
||
Shoemark A,
|
||
Goeminne PC,
|
||
Shteinberg M,
|
||
Loebinger MR,
|
||
Haworth CS,
|
||
Blasi F,
|
||
Tiddens HAWM,
|
||
Caudri D,
|
||
Chalmers JD</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2024 Jul 1;210(1):87-96.
|
||
doi: 10.1164/rccm.202311-2109OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38635862" target="_blank">38635862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37660715">Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ringshausen FC,
|
||
Shapiro AJ,
|
||
Nielsen KG,
|
||
Mazurek H,
|
||
Pifferi M,
|
||
Donn KH,
|
||
van der Eerden MM,
|
||
Loebinger MR,
|
||
Zariwala MA,
|
||
Leigh MW,
|
||
Knowles MR,
|
||
Ferkol TW;
|
||
CLEAN-PCD investigators and study team</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2024 Jan;12(1):21-33.
|
||
Epub 2023 Aug 31
|
||
doi: 10.1016/S2213-2600(23)00226-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37660715" target="_blank">37660715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28687245">Movement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferkol T</span><br />
|
||
<span class="medgenPMjournal">Paediatr Respir Rev</span>
|
||
2017 Sep;24:19-20.
|
||
Epub 2017 Jun 12
|
||
doi: 10.1016/j.prrv.2017.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28687245" target="_blank">28687245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28152038">Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LaDuca H,
|
||
Farwell KD,
|
||
Vuong H,
|
||
Lu HM,
|
||
Mu W,
|
||
Shahmirzadi L,
|
||
Tang S,
|
||
Chen J,
|
||
Bhide S,
|
||
Chao EC</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2017;12(2):e0170843.
|
||
Epub 2017 Feb 2
|
||
doi: 10.1371/journal.pone.0170843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28152038" target="_blank">28152038</a><a href="/pmc/articles/PMC5289469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16940490">Kartagener syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casanova MS,
|
||
Tuji FM,
|
||
Yoo HJ,
|
||
Haiter-Neto F</span><br />
|
||
<span class="medgenPMjournal">Dentomaxillofac Radiol</span>
|
||
2006 Sep;35(5):386-9.
|
||
doi: 10.1259/dmfr/58545230.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16940490" target="_blank">16940490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2035%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 (59)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39270696">Inhaled colistimethate sodium in patients with bronchiectasis and Pseudomonas aeruginosa infection: results of PROMIS-I and PROMIS-II, two randomised, double-blind, placebo-controlled phase 3 trials assessing safety and efficacy over 12 months.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haworth CS,
|
||
Shteinberg M,
|
||
Winthrop K,
|
||
Barker A,
|
||
Blasi F,
|
||
Dimakou K,
|
||
Morgan LC,
|
||
O'Donnell AE,
|
||
Ringshausen FC,
|
||
Sibila O,
|
||
Thomson RM,
|
||
Carroll KJ,
|
||
Pontenani F,
|
||
Castellani P,
|
||
Chalmers JD;
|
||
PROMIS trial investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2024 Oct;12(10):787-798.
|
||
Epub 2024 Sep 10
|
||
doi: 10.1016/S2213-2600(24)00225-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39270696" target="_blank">39270696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37660715">Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ringshausen FC,
|
||
Shapiro AJ,
|
||
Nielsen KG,
|
||
Mazurek H,
|
||
Pifferi M,
|
||
Donn KH,
|
||
van der Eerden MM,
|
||
Loebinger MR,
|
||
Zariwala MA,
|
||
Leigh MW,
|
||
Knowles MR,
|
||
Ferkol TW;
|
||
CLEAN-PCD investigators and study team</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2024 Jan;12(1):21-33.
|
||
Epub 2023 Aug 31
|
||
doi: 10.1016/S2213-2600(23)00226-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37660715" target="_blank">37660715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34985761">Intermittent prophylactic antibiotics for bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spencer S,
|
||
Donovan T,
|
||
Chalmers JD,
|
||
Mathioudakis AG,
|
||
McDonnell MJ,
|
||
Tsang A,
|
||
Leadbetter P</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Jan 5;1(1):CD013254.
|
||
doi: 10.1002/14651858.CD013254.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34985761" target="_blank">34985761</a><a href="/pmc/articles/PMC8729825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28152038">Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LaDuca H,
|
||
Farwell KD,
|
||
Vuong H,
|
||
Lu HM,
|
||
Mu W,
|
||
Shahmirzadi L,
|
||
Tang S,
|
||
Chen J,
|
||
Bhide S,
|
||
Chao EC</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2017;12(2):e0170843.
|
||
Epub 2017 Feb 2
|
||
doi: 10.1371/journal.pone.0170843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28152038" target="_blank">28152038</a><a href="/pmc/articles/PMC5289469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19840958">Respiratory medicines for children: current evidence, unlicensed use and research priorities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smyth AR,
|
||
Barbato A,
|
||
Beydon N,
|
||
Bisgaard H,
|
||
de Boeck K,
|
||
Brand P,
|
||
Bush A,
|
||
Fauroux B,
|
||
de Jongste J,
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Korppi M,
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O'Callaghan C,
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Pijnenburg M,
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Ratjen F,
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Southern K,
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Spencer D,
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Thomson A,
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Vyas H,
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Warris A,
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Merkus PJ</span><br />
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<span class="medgenPMjournal">Eur Respir J</span>
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2010 Feb;35(2):247-65.
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Epub 2009 Oct 19
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doi: 10.1183/09031936.00139508.
|
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<span class="bold">PMID: </span><a href="/pubmed/19840958" target="_blank">19840958</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2035%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 (17)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37660715">Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ringshausen FC,
|
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Shapiro AJ,
|
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Nielsen KG,
|
||
Mazurek H,
|
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Pifferi M,
|
||
Donn KH,
|
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van der Eerden MM,
|
||
Loebinger MR,
|
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Zariwala MA,
|
||
Leigh MW,
|
||
Knowles MR,
|
||
Ferkol TW;
|
||
CLEAN-PCD investigators and study team</span><br />
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<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2024 Jan;12(1):21-33.
|
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Epub 2023 Aug 31
|
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doi: 10.1016/S2213-2600(23)00226-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37660715" target="_blank">37660715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36442147">Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinghorn B,
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Rosenfeld M,
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Sullivan E,
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Onchiri F,
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Ferkol TW,
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Sagel SD,
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Dell SD,
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Milla C,
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Shapiro AJ,
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Sullivan KM,
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Zariwala MA,
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Pittman JE,
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Mollica F,
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Tiddens HAWM,
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Kemner-van de Corput M,
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Knowles MR,
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Davis SD,
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Leigh MW</span><br />
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<span class="medgenPMjournal">Ann Am Thorac Soc</span>
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2023 Apr;20(4):539-547.
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doi: 10.1513/AnnalsATS.202206-524OC.
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<span class="bold">PMID: </span><a href="/pubmed/36442147" target="_blank">36442147</a><a href="/pmc/articles/PMC10112400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28593008">Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khurana S,
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Saini V,
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Wadhwa V,
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Kaur H</span><br />
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<span class="medgenPMjournal">J Ultrasound</span>
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2017 Jun;20(2):167-170.
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Epub 2017 Jan 4
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doi: 10.1007/s40477-016-0231-4.
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<span class="bold">PMID: </span><a href="/pubmed/28593008" target="_blank">28593008</a><a href="/pmc/articles/PMC5440330" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28152038">Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LaDuca H,
|
||
Farwell KD,
|
||
Vuong H,
|
||
Lu HM,
|
||
Mu W,
|
||
Shahmirzadi L,
|
||
Tang S,
|
||
Chen J,
|
||
Bhide S,
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Chao EC</span><br />
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<span class="medgenPMjournal">PLoS One</span>
|
||
2017;12(2):e0170843.
|
||
Epub 2017 Feb 2
|
||
doi: 10.1371/journal.pone.0170843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28152038" target="_blank">28152038</a><a href="/pmc/articles/PMC5289469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6372667">Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palmblad J,
|
||
Mossberg B,
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Afzelius BA</span><br />
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<span class="medgenPMjournal">Annu Rev Med</span>
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1984;35:481-92.
|
||
doi: 10.1146/annurev.me.35.020184.002405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6372667" target="_blank">6372667</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2035%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 (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39270696">Inhaled colistimethate sodium in patients with bronchiectasis and Pseudomonas aeruginosa infection: results of PROMIS-I and PROMIS-II, two randomised, double-blind, placebo-controlled phase 3 trials assessing safety and efficacy over 12 months.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haworth CS,
|
||
Shteinberg M,
|
||
Winthrop K,
|
||
Barker A,
|
||
Blasi F,
|
||
Dimakou K,
|
||
Morgan LC,
|
||
O'Donnell AE,
|
||
Ringshausen FC,
|
||
Sibila O,
|
||
Thomson RM,
|
||
Carroll KJ,
|
||
Pontenani F,
|
||
Castellani P,
|
||
Chalmers JD;
|
||
PROMIS trial investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2024 Oct;12(10):787-798.
|
||
Epub 2024 Sep 10
|
||
doi: 10.1016/S2213-2600(24)00225-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39270696" target="_blank">39270696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38635862">Structural Lung Disease and Clinical Phenotype in Bronchiectasis Patients: The EMBARC CT Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pieters ALP,
|
||
van der Veer T,
|
||
Meerburg JJ,
|
||
Andrinopoulou ER,
|
||
van der Eerden MM,
|
||
Ciet P,
|
||
Aliberti S,
|
||
Burgel PR,
|
||
Crichton ML,
|
||
Shoemark A,
|
||
Goeminne PC,
|
||
Shteinberg M,
|
||
Loebinger MR,
|
||
Haworth CS,
|
||
Blasi F,
|
||
Tiddens HAWM,
|
||
Caudri D,
|
||
Chalmers JD</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2024 Jul 1;210(1):87-96.
|
||
doi: 10.1164/rccm.202311-2109OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38635862" target="_blank">38635862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37660715">Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ringshausen FC,
|
||
Shapiro AJ,
|
||
Nielsen KG,
|
||
Mazurek H,
|
||
Pifferi M,
|
||
Donn KH,
|
||
van der Eerden MM,
|
||
Loebinger MR,
|
||
Zariwala MA,
|
||
Leigh MW,
|
||
Knowles MR,
|
||
Ferkol TW;
|
||
CLEAN-PCD investigators and study team</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2024 Jan;12(1):21-33.
|
||
Epub 2023 Aug 31
|
||
doi: 10.1016/S2213-2600(23)00226-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37660715" target="_blank">37660715</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28152038">Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LaDuca H,
|
||
Farwell KD,
|
||
Vuong H,
|
||
Lu HM,
|
||
Mu W,
|
||
Shahmirzadi L,
|
||
Tang S,
|
||
Chen J,
|
||
Bhide S,
|
||
Chao EC</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2017;12(2):e0170843.
|
||
Epub 2017 Feb 2
|
||
doi: 10.1371/journal.pone.0170843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28152038" target="_blank">28152038</a><a href="/pmc/articles/PMC5289469" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6372667">Ultrastructural, cellular, and clinical features of the immotile-cilia syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palmblad J,
|
||
Mossberg B,
|
||
Afzelius BA</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
1984;35:481-92.
|
||
doi: 10.1146/annurev.me.35.020184.002405.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6372667" target="_blank">6372667</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2035%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 (47)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34985761">Intermittent prophylactic antibiotics for bronchiectasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spencer S,
|
||
Donovan T,
|
||
Chalmers JD,
|
||
Mathioudakis AG,
|
||
McDonnell MJ,
|
||
Tsang A,
|
||
Leadbetter P</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 Jan 5;1(1):CD013254.
|
||
doi: 10.1002/14651858.CD013254.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34985761" target="_blank">34985761</a><a href="/pmc/articles/PMC8729825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Primary%20ciliary%20dyskinesia%2035%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 (1)</a></div></div>
|
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</div>
|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4310721%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310721%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310721%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310721%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4310721%5bDISCUI%5d" target="_blank">See all (18)</a></total></li>
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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=(primary%20ciliary%20dyskinesia%2035)%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></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617095" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=83538[geneid]" target="_blank">View ODAD4 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=617092" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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|
||
</div>
|
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</div>
|
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<div class="portlet brieflink">
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<h3>Reviews</h3>
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<li>
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<a href="/pubmed/clinical?term=Primary%20ciliary%20dyskinesia%2035" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Primary%20ciliary%20dyskinesia%2035%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=67ccae43b15b832ebc63c641">Primary ciliary dyskinesia 35</a>
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<div class="tertiary">ClinVar</div>
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