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<meta name="keywords" content="C4022990, dynein arm defect of respiratory motile cilia, finding, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Dynein arm defect of respiratory motile cilia (Concept Id: C4022990)
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<!--
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UID=868591
|
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ConceptID=C4022990
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Dynein arm defect of respiratory motile cilia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868591</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:">C4022990</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012255">HP:0012255</a></td></tr>
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</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>
|
||
<div class="portlet_content ln">An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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||
</div>
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||
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||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Dynein arm defect of respiratory motile cilia</span></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/868593" ref="tree=MeSH" title="MedGen record for Abnormal respiratory system morphology">Abnormal respiratory system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868592" ref="tree=MeSH" title="MedGen record for Abnormal respiratory epithelium morphology">Abnormal respiratory epithelium morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870646" ref="tree=MeSH" title="MedGen record for Abnormal respiratory motile cilium morphology">Abnormal respiratory motile cilium morphology</a></span><ul><li><span class="matched_ds">Dynein arm defect of respiratory motile cilia</span><ul><li><span class="TLline"><a href="/medgen/867509" ref="tree=MeSH" title="MedGen record for Absent/shortened dynein arms">Absent/shortened dynein arms</a></span><ul><li><span class="TLline"><a href="/medgen/868589" ref="tree=MeSH" title="MedGen record for Absent inner dynein arms">Absent inner dynein arms</a></span><ul><li><span class="TLline"><a href="/medgen/868587" ref="tree=MeSH" title="MedGen record for Absent inner and outer dynein arms">Absent inner and outer dynein arms</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868590" ref="tree=MeSH" title="MedGen record for Absent outer dynein arms">Absent outer dynein arms</a></span></li><li><span class="TLline"><a href="/medgen/413238" ref="tree=MeSH" title="MedGen record for Absent/shortened outer dynein arms">Absent/shortened outer dynein arms</a></span></li><li><span class="TLline"><a href="/medgen/867508" ref="tree=MeSH" title="MedGen record for Shortened inner dynein arms">Shortened inner dynein arms</a></span></li><li><span class="TLline"><a href="/medgen/867507" ref="tree=MeSH" title="MedGen record for Shortened outer dynein arms">Shortened outer dynein arms</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_762261"><div><strong>Primary ciliary dyskinesia 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762261</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.">C3542550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762261">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816036"><div><strong>Primary ciliary dyskinesia 28</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816036</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.">C3809706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-28 (CILD28) is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms (summary by Knowles et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816036">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762261" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 17</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary ciliary dyskinesia 28</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37314648">Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang R,
|
||
Yang D,
|
||
Tu C,
|
||
Lei C,
|
||
Ding S,
|
||
Guo T,
|
||
Wang L,
|
||
Liu Y,
|
||
Lu C,
|
||
Yang B,
|
||
Ouyang S,
|
||
Gong K,
|
||
Tan Z,
|
||
Deng Y,
|
||
Tan Y,
|
||
Qing J,
|
||
Luo H</span><br />
|
||
<span class="medgenPMjournal">Front Med</span>
|
||
2023 Oct;17(5):957-971.
|
||
Epub 2023 Jun 13
|
||
doi: 10.1007/s11684-023-0988-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37314648" target="_blank">37314648</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25493340">Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Ferkol TW,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Dell SD,
|
||
Sagel SD,
|
||
Milla C,
|
||
Zariwala MA,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Carson JL,
|
||
Krischer JP,
|
||
Hazucha MJ,
|
||
Cooper ML,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2015 Feb 1;191(3):316-24.
|
||
doi: 10.1164/rccm.201409-1672OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25493340" target="_blank">25493340</a><a href="/pmc/articles/PMC4351577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15750039">Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fliegauf M,
|
||
Olbrich H,
|
||
Horvath J,
|
||
Wildhaber JH,
|
||
Zariwala MA,
|
||
Kennedy M,
|
||
Knowles MR,
|
||
Omran H</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2005 Jun 15;171(12):1343-9.
|
||
Epub 2005 Mar 4
|
||
doi: 10.1164/rccm.200411-1583OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15750039" target="_blank">15750039</a><a href="/pmc/articles/PMC2718478" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(dynein%20arm%20defect%20of%20respiratory%20motile%20cilia)%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 (6)</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/36865419">Cilia Ultrastructure Associated with Primary Ciliary Dyskinesia in Omani Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al Adawi K,
|
||
Baomar T,
|
||
Al Riyami M,
|
||
Al Shamli N,
|
||
Al Shidhani K,
|
||
Al Ansari A,
|
||
Al Kindi H</span><br />
|
||
<span class="medgenPMjournal">Sultan Qaboos Univ Med J</span>
|
||
2023 Feb;23(1):76-80.
|
||
Epub 2023 Feb 23
|
||
doi: 10.18295/squmj.4.2022.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36865419" target="_blank">36865419</a><a href="/pmc/articles/PMC9974026" target="_blank" class="PubMedFree">Free PMC Article</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/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Nykamp KR,
|
||
Krischer JP,
|
||
Zariwala MA,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25493340">Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Ferkol TW,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Dell SD,
|
||
Sagel SD,
|
||
Milla C,
|
||
Zariwala MA,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Carson JL,
|
||
Krischer JP,
|
||
Hazucha MJ,
|
||
Cooper ML,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2015 Feb 1;191(3):316-24.
|
||
doi: 10.1164/rccm.201409-1672OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25493340" target="_blank">25493340</a><a href="/pmc/articles/PMC4351577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15750039">Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fliegauf M,
|
||
Olbrich H,
|
||
Horvath J,
|
||
Wildhaber JH,
|
||
Zariwala MA,
|
||
Kennedy M,
|
||
Knowles MR,
|
||
Omran H</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2005 Jun 15;171(12):1343-9.
|
||
Epub 2005 Mar 4
|
||
doi: 10.1164/rccm.200411-1583OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15750039" target="_blank">15750039</a><a href="/pmc/articles/PMC2718478" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dynein%20arm%20defect%20of%20respiratory%20motile%20cilia%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 (19)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36074124">Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leslie JS,
|
||
Hjeij R,
|
||
Vivante A,
|
||
Bearce EA,
|
||
Dyer L,
|
||
Wang J,
|
||
Rawlins L,
|
||
Kennedy J,
|
||
Ubeyratna N,
|
||
Fasham J,
|
||
Irons ZH,
|
||
Craig SB,
|
||
Koenig J,
|
||
George S,
|
||
Pode-Shakked B,
|
||
Bolkier Y,
|
||
Barel O,
|
||
Mane S,
|
||
Frederiksen KK,
|
||
Wenger O,
|
||
Scott E,
|
||
Cross HE,
|
||
Lorentzen E,
|
||
Norris DP,
|
||
Anikster Y,
|
||
Omran H,
|
||
Grimes DT,
|
||
Crosby AH,
|
||
Baple EL</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Nov;24(11):2249-2261.
|
||
Epub 2022 Sep 8
|
||
doi: 10.1016/j.gim.2022.07.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36074124" target="_blank">36074124</a><a href="/pmc/articles/PMC10584193" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35305968">Analysis of the diagnosis of Japanese patients with primary ciliary dyskinesia using a conditional reprogramming culture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kurokawa A,
|
||
Kondo M,
|
||
Honda N,
|
||
Orimo M,
|
||
Miyoshi A,
|
||
Kobayashi F,
|
||
Abe K,
|
||
Akaba T,
|
||
Tsuji M,
|
||
Arimura K,
|
||
Nakatani K,
|
||
Ikejiri M,
|
||
Yagi O,
|
||
Takeyama K,
|
||
Katsura H,
|
||
Takeuchi K,
|
||
Tagaya E</span><br />
|
||
<span class="medgenPMjournal">Respir Investig</span>
|
||
2022 May;60(3):407-417.
|
||
Epub 2022 Mar 17
|
||
doi: 10.1016/j.resinv.2022.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35305968" target="_blank">35305968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35149751">Transmission electron microscopy study of suspected primary ciliary dyskinesia patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rezaei M,
|
||
Soheili A,
|
||
Ziai SA,
|
||
Fakharian A,
|
||
Toreyhi H,
|
||
Pourabdollah M,
|
||
Ghorbani J,
|
||
Karimi-Galougahi M,
|
||
Mahdaviani SA,
|
||
Hasanzad M,
|
||
Eslaminejad A,
|
||
Ghaffaripour HA,
|
||
Mahmoudian S,
|
||
Rodafshani Z,
|
||
Mirenayat MS,
|
||
Varahram M,
|
||
Marjani M,
|
||
Tabarsi P,
|
||
Mansouri D,
|
||
Jamaati HR,
|
||
Velayati AA</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Feb 11;12(1):2375.
|
||
doi: 10.1038/s41598-022-06370-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35149751" target="_blank">35149751</a><a href="/pmc/articles/PMC8837606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31345208">Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Inaba A,
|
||
Furuhata M,
|
||
Morimoto K,
|
||
Rahman M,
|
||
Takahashi O,
|
||
Hijikata M,
|
||
Knowles MR,
|
||
Keicho N</span><br />
|
||
<span class="medgenPMjournal">BMC Pulm Med</span>
|
||
2019 Jul 25;19(1):135.
|
||
doi: 10.1186/s12890-019-0897-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31345208" target="_blank">31345208</a><a href="/pmc/articles/PMC6659197" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Nykamp KR,
|
||
Krischer JP,
|
||
Zariwala MA,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dynein%20arm%20defect%20of%20respiratory%20motile%20cilia%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 (28)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32764743">Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bustamante-Marin XM,
|
||
Horani A,
|
||
Stoyanova M,
|
||
Charng WL,
|
||
Bottier M,
|
||
Sears PR,
|
||
Yin WN,
|
||
Daniels LA,
|
||
Bowen H,
|
||
Conrad DF,
|
||
Knowles MR,
|
||
Ostrowski LE,
|
||
Zariwala MA,
|
||
Dutcher SK</span><br />
|
||
<span class="medgenPMjournal">PLoS Genet</span>
|
||
2020 Aug;16(8):e1008691.
|
||
Epub 2020 Aug 7
|
||
doi: 10.1371/journal.pgen.1008691.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32764743" target="_blank">32764743</a><a href="/pmc/articles/PMC7444499" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Ferkol TW,
|
||
Sagel SD,
|
||
Dell SD,
|
||
Milla C,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Sullivan KM,
|
||
Nykamp KR,
|
||
Krischer JP,
|
||
Zariwala MA,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2019 Jan 15;199(2):190-198.
|
||
doi: 10.1164/rccm.201803-0548OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29727693">Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Höben IM,
|
||
Hjeij R,
|
||
Olbrich H,
|
||
Dougherty GW,
|
||
Nöthe-Menchen T,
|
||
Aprea I,
|
||
Frank D,
|
||
Pennekamp P,
|
||
Dworniczak B,
|
||
Wallmeier J,
|
||
Raidt J,
|
||
Nielsen KG,
|
||
Philipsen MC,
|
||
Santamaria F,
|
||
Venditto L,
|
||
Amirav I,
|
||
Mussaffi H,
|
||
Prenzel F,
|
||
Wu K,
|
||
Bakey Z,
|
||
Schmidts M,
|
||
Loges NT,
|
||
Omran H</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2018 May 3;102(5):973-984.
|
||
doi: 10.1016/j.ajhg.2018.03.025.
|
||
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Yatera K,
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<div class="nl"><a target="_blank" href="/pubmed/18976016">Ultrastructural abnormalities of respiratory cilia: a 25-year experience.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dynein%20arm%20defect%20of%20respiratory%20motile%20cilia%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
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Rosenfeld M,
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Shapiro AJ,
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Nykamp KR,
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Zariwala MA,
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<div class="nl"><a target="_blank" href="/pubmed/25493340">Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
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Ferkol TW,
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Rosenfeld M,
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Lee HS,
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Dell SD,
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Sagel SD,
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Milla C,
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Zariwala MA,
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Pittman JE,
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Shapiro AJ,
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Carson JL,
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Krischer JP,
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Hazucha MJ,
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<div class="nl"><a target="_blank" href="/pubmed/24203976">Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Onoufriadis A,
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Shoemark A,
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Munye MM,
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James CT,
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Schmidts M,
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Bacchelli C,
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<div class="nl"><a target="_blank" href="/pubmed/22576394">Two cases of primary ciliary dyskinesia with different responses to macrolide treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kido T,
|
||
Yatera K,
|
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Yamasaki K,
|
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Nagata S,
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Choujin Y,
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Yamaga C,
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Hara K,
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Ishimoto H,
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Hisaoka M,
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Mukae H</span><br />
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<span class="medgenPMjournal">Intern Med</span>
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2012;51(9):1093-8.
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Epub 2012 Apr 29
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doi: 10.2169/internalmedicine.51.6617.
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<span class="bold">PMID: </span><a href="/pubmed/22576394" target="_blank">22576394</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dynein%20arm%20defect%20of%20respiratory%20motile%20cilia%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/36074124">Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.</a></div>
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Hjeij R,
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Vivante A,
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<div class="nl"><a target="_blank" href="/pubmed/30067075">Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
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Rosenfeld M,
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Lee HS,
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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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Pittman JE,
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Shapiro AJ,
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Sullivan KM,
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Nykamp KR,
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Krischer JP,
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Zariwala MA,
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Knowles MR,
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Leigh MW</span><br />
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||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
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2019 Jan 15;199(2):190-198.
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||
doi: 10.1164/rccm.201803-0548OC.
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<span class="bold">PMID: </span><a href="/pubmed/30067075" target="_blank">30067075</a><a href="/pmc/articles/PMC6353004" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30471718">Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.</a></div>
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Hjeij R,
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Bakey Z,
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Pennekamp P,
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Dworniczak B,
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25493340">Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis SD,
|
||
Ferkol TW,
|
||
Rosenfeld M,
|
||
Lee HS,
|
||
Dell SD,
|
||
Sagel SD,
|
||
Milla C,
|
||
Zariwala MA,
|
||
Pittman JE,
|
||
Shapiro AJ,
|
||
Carson JL,
|
||
Krischer JP,
|
||
Hazucha MJ,
|
||
Cooper ML,
|
||
Knowles MR,
|
||
Leigh MW</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2015 Feb 1;191(3):316-24.
|
||
doi: 10.1164/rccm.201409-1672OC.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25493340" target="_blank">25493340</a><a href="/pmc/articles/PMC4351577" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dynein%20arm%20defect%20of%20respiratory%20motile%20cilia%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 (18)</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/31345208">Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Inaba A,
|
||
Furuhata M,
|
||
Morimoto K,
|
||
Rahman M,
|
||
Takahashi O,
|
||
Hijikata M,
|
||
Knowles MR,
|
||
Keicho N</span><br />
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||
<span class="medgenPMjournal">BMC Pulm Med</span>
|
||
2019 Jul 25;19(1):135.
|
||
doi: 10.1186/s12890-019-0897-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31345208" target="_blank">31345208</a><a href="/pmc/articles/PMC6659197" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Dynein%20arm%20defect%20of%20respiratory%20motile%20cilia%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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