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<meta name="keywords" content="C2749137, disease or syndrome, primary ciliary dyskinesia-retinitis pigmentosa syndrome, retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness, retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness, rpgr, rpsrdf, 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="X-linked retinitis pigmentosa and sinorespiratory infections with or without deafness (RPSRDF) is characterized by typical features of RP, including night blindness, constricted visual fields, progressive reduction in visual acuity, bone-spicule pigmentation, and extinguished responses on electroretinography. Affected individuals also experience severe recurrent sinorespiratory infections, and some develop progressive hearing loss. Carrier females may show an attenuated ocular and/or respiratory phenotype (Zito et al., 2003; Moore et al., 2006)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=440716
|
||
ConceptID=C2749137
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness<span class="h1sub">(RPSRDF)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>440716</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:">C2749137</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>RPSRDF</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></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="RPGR - ID: 6103 - NCBI Gene" href="/gene/6103" class="medgenPMinfo">RPGR</a> (Xp11.4)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300455" target="_blank">300455</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247522">ORPHA247522</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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">X-linked retinitis pigmentosa and sinorespiratory infections with or without deafness (RPSRDF) is characterized by typical features of RP, including night blindness, constricted visual fields, progressive reduction in visual acuity, bone-spicule pigmentation, and extinguished responses on electroretinography. Affected individuals also experience severe recurrent sinorespiratory infections, and some develop progressive hearing loss. Carrier females may show an attenuated ocular and/or respiratory phenotype (Zito et al., 2003; Moore et al., 2006). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_42358"><div><strong>High-frequency hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42358</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.">C0018780</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42358">Feature record</a> | <a href="/medgen?term=%22High-frequency%20hearing%20impairment%22%5BClinical%20Features%5D%20OR%2042358%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_13946"><div><strong>Atelectasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13946</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.">C0004144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Collapse of part of a lung associated with absence of inflation (air) of that part.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13946">Feature record</a> | <a href="/medgen?term=%22Atelectasis%22%5BClinical%20Features%5D%20OR%2013946%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_148159"><div><strong>Recurrent bronchitis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148159</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.">C0741796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148159">Feature record</a> | <a href="/medgen?term=%22Recurrent%20bronchitis%22%5BClinical%20Features%5D%20OR%20148159%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45253"><div><strong>Otitis media</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45253</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.">C0029882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation or infection of the middle ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45253">Feature record</a> | <a href="/medgen?term=%22Otitis%20media%22%5BClinical%20Features%5D%20OR%2045253%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>
|
||
<div class="divPopper rprt" id="clin_870747"><div><strong>Recurrent Haemophilus influenzae infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870747</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.">C4025204</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870747">Feature record</a> | <a href="/medgen?term=%22Recurrent%20Haemophilus%20influenzae%20infections%22%5BClinical%20Features%5D%20OR%20870747%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1632921"><div><strong>Rod-cone dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632921</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.">C4551714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632921">Feature record</a> | <a href="/medgen?term=%22Rod-cone%20dystrophy%22%5BClinical%20Features%5D%20OR%201632921%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 the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1632921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rod-cone dystrophy</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_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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Otitis media</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870747" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent Haemophilus influenzae infections</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_13946" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atelectasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_148159" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent bronchitis</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High-frequency hearing impairment</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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><li><a href="#tabORDO">Orphanet</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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2749137[DISCUI]&test_type=Clinical" ref="ncbi_uid=440716">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=440716" target="_blank" href="/omim/300455">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=440716" ref="ncbi_uid=440716">V</a></span></span><span class="TLline">Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/19750" ref="tree=MeSH" title="MedGen record for Disease, Respiratory Tract">Disease, Respiratory Tract</a></span><ul><li><span class="TLline"><a href="/medgen/7399" ref="tree=MeSH" title="MedGen record for Disorder of lung">Disorder of lung</a></span><ul><li><span class="matched_ds">Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness</span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=19523&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness</span> in Orphanet.</div></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/32712016">Alport Syndrome: Achieving Early Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kashtan CE</span><br />
|
||
<span class="medgenPMjournal">Am J Kidney Dis</span>
|
||
2021 Feb;77(2):272-279.
|
||
Epub 2020 Jul 22
|
||
doi: 10.1053/j.ajkd.2020.03.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32712016" target="_blank">32712016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26742931">Wolfram Syndrome: Diagnosis, Management, and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urano F</span><br />
|
||
<span class="medgenPMjournal">Curr Diab Rep</span>
|
||
2016 Jan;16(1):6.
|
||
doi: 10.1007/s11892-015-0702-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26742931" target="_blank">26742931</a><a href="/pmc/articles/PMC4705145" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24845716">Neonatal screening programs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keskinkılıç B</span><br />
|
||
<span class="medgenPMjournal">Clin Biochem</span>
|
||
2014 Jun;47(9):692.
|
||
Epub 2014 May 18
|
||
doi: 10.1016/j.clinbiochem.2014.05.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24845716" target="_blank">24845716</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(retinitis%20pigmentosa%2C%20x-linked%2C%20and%20sinorespiratory%20infections%2C%20with%20or%20without%20deafness)%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 (1088)</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/39196914">Reading achievement and deaf students with cochlear implants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mayer C,
|
||
Trezek BJ</span><br />
|
||
<span class="medgenPMjournal">Cochlear Implants Int</span>
|
||
2024 Sep;25(5):394-402.
|
||
Epub 2024 Aug 28
|
||
doi: 10.1080/14670100.2024.2394313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39196914" target="_blank">39196914</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38528140">Gene therapy for deafness: are we there now?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moser T,
|
||
Chen H,
|
||
Kusch K,
|
||
Behr R,
|
||
Vona B</span><br />
|
||
<span class="medgenPMjournal">EMBO Mol Med</span>
|
||
2024 Apr;16(4):675-677.
|
||
Epub 2024 Mar 25
|
||
doi: 10.1038/s44321-024-00058-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38528140" target="_blank">38528140</a><a href="/pmc/articles/PMC11018804" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24533753">History of cochlear implantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramsden RT</span><br />
|
||
<span class="medgenPMjournal">Cochlear Implants Int</span>
|
||
2013 Nov;14 Suppl 4:S3-5.
|
||
doi: 10.1179/1467010013Z.000000000140.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24533753" target="_blank">24533753</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21542710">Cochlear implants: current status and future potential.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cosetti MK,
|
||
Waltzman SB</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Med Devices</span>
|
||
2011 May;8(3):389-401.
|
||
doi: 10.1586/erd.11.12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21542710" target="_blank">21542710</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9390099">Issues to consider in deaf and hard-of-hearing patients. The Committee on Disabilities of the Group for the Advancement of Psychiatry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMjournal">Am Fam Physician</span>
|
||
1997 Nov 15;56(8):2057-64, 2067-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9390099" target="_blank">9390099</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2C%20X-linked%2C%20and%20sinorespiratory%20infections%2C%20with%20or%20without%20deafness%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 (9521)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26375234">Syndrome in Question.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peruzzo J,
|
||
Nazar FL,
|
||
Tubone MQ,
|
||
Escobar GF,
|
||
Cestari TF</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2015 Jul-Aug;90(4):589-90.
|
||
doi: 10.1590/abd1806-4841.20153343.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26375234" target="_blank">26375234</a><a href="/pmc/articles/PMC4560554" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22016077">Deafness in the genomics era.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shearer AE,
|
||
Hildebrand MS,
|
||
Sloan CM,
|
||
Smith RJ</span><br />
|
||
<span class="medgenPMjournal">Hear Res</span>
|
||
2011 Dec;282(1-2):1-9.
|
||
Epub 2011 Oct 8
|
||
doi: 10.1016/j.heares.2011.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22016077" target="_blank">22016077</a><a href="/pmc/articles/PMC3230685" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20925546">Profound deafness in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kral A,
|
||
O'Donoghue GM</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2010 Oct 7;363(15):1438-50.
|
||
doi: 10.1056/NEJMra0911225.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20925546" target="_blank">20925546</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2198446">Deafness: diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tonkin JP</span><br />
|
||
<span class="medgenPMjournal">Med J Aust</span>
|
||
1990 Jun 18;152(12):659-63.
|
||
doi: 10.5694/j.1326-5377.1990.tb125426.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2198446" target="_blank">2198446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5923001">Pseudohypacusis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldstein R</span><br />
|
||
<span class="medgenPMjournal">J Speech Hear Disord</span>
|
||
1966 Nov;31(4):341-52.
|
||
doi: 10.1044/jshd.3104.341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5923001" target="_blank">5923001</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2C%20X-linked%2C%20and%20sinorespiratory%20infections%2C%20with%20or%20without%20deafness%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 (9470)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38839898">Gene therapy for hereditary deafness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith C,
|
||
Zafeer MF,
|
||
Tekin M</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2024 Jul;30(7):1828-1829.
|
||
doi: 10.1038/s41591-024-03004-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38839898" target="_blank">38839898</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38839897">Bilateral gene therapy in children with autosomal recessive deafness 9: single-arm trial results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang H,
|
||
Chen Y,
|
||
Lv J,
|
||
Cheng X,
|
||
Cao Q,
|
||
Wang D,
|
||
Zhang L,
|
||
Zhu B,
|
||
Shen M,
|
||
Xu C,
|
||
Xun M,
|
||
Wang Z,
|
||
Tang H,
|
||
Hu S,
|
||
Cui C,
|
||
Jiang L,
|
||
Yin Y,
|
||
Guo L,
|
||
Zhou Y,
|
||
Han L,
|
||
Gao Z,
|
||
Zhang J,
|
||
Yu S,
|
||
Gao K,
|
||
Wang J,
|
||
Chen B,
|
||
Wang W,
|
||
Chen ZY,
|
||
Li H,
|
||
Shu Y</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2024 Jul;30(7):1898-1904.
|
||
Epub 2024 Jun 5
|
||
doi: 10.1038/s41591-024-03023-5.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/38280389">AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38189623">AAV-Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21821527">The role of comorbidities in cardioprotection.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2C%20X-linked%2C%20and%20sinorespiratory%20infections%2C%20with%20or%20without%20deafness%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 (3834)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31095874">Effects of a wireless frequency modulation system on learning ability and emotional and behaviour problem improvement in 11 children with cochlear implant.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cho YS,
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Ahn JH,
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Hong SH,
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<div class="nl"><a target="_blank" href="/pubmed/28806332">Linking Deafness and Dementia: Challenges and Opportunities.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lin VYW,
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<div class="portlet_content ln"><span class="medgenPMauthor">Arts RA,
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George EL,
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Stokroos RJ,
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<div class="nl"><a target="_blank" href="/pubmed/1878019">Deafness in children.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2C%20X-linked%2C%20and%20sinorespiratory%20infections%2C%20with%20or%20without%20deafness%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 (4826)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39196914">Reading achievement and deaf students with cochlear implants.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mayer C,
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Trezek BJ</span><br />
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2024 Sep;25(5):394-402.
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Epub 2024 Aug 28
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doi: 10.1080/14670100.2024.2394313.
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<span class="bold">PMID: </span><a href="/pubmed/39196914" target="_blank">39196914</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38661776">Investigating the Writing Achievement of Deaf Learners.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mayer C,
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Trezek BJ</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/38661776" target="_blank">38661776</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gremp MA,
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Deocampo JA,
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Conway CM</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/11694730">Auditory evoked potentials as measures of plasticity in humans.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Purdy SC,
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Kelly AS,
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<span class="medgenPMjournal">Audiol Neurootol</span>
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<div class="nl"><a target="_blank" href="/pubmed/7668685">Categories of Auditory Performance.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Archbold S,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2C%20X-linked%2C%20and%20sinorespiratory%20infections%2C%20with%20or%20without%20deafness%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 (7155)</a></div></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37963634">Autism intervention meta-analysis of early childhood studies (Project AIM): updated systematic review and secondary analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sandbank M,
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Bottema-Beutel K,
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Crowley LaPoint S,
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Feldman JI,
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Barrett DJ,
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Caldwell N,
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Dunham K,
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Crank J,
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Albarran S,
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||
Woynaroski T</span><br />
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<span class="medgenPMjournal">BMJ</span>
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2023 Nov 14;383:e076733.
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doi: 10.1136/bmj-2023-076733.
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<span class="bold">PMID: </span><a href="/pubmed/37963634" target="_blank">37963634</a><a href="/pmc/articles/PMC10644209" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36764396">Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">de Muijnck C,
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||
Brink JBT,
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Bergen AA,
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||
Boon CJF,
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||
van Genderen MM</span><br />
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<span class="medgenPMjournal">Surv Ophthalmol</span>
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||
2023 Jul-Aug;68(4):641-654.
|
||
Epub 2023 Feb 9
|
||
doi: 10.1016/j.survophthal.2023.01.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36764396" target="_blank">36764396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34233329">Betahistine in Ménière's Disease or Syndrome: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Van Esch B,
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van der Zaag-Loonen H,
|
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Bruintjes T,
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van Benthem PP</span><br />
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<span class="medgenPMjournal">Audiol Neurootol</span>
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2022;27(1):1-33.
|
||
Epub 2021 Jul 7
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||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/34233329" target="_blank">34233329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33151295">Cochlear Implantation in Children With Single-Sided Deafness: A Systematic Review and Meta-analysis.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Benchetrit L,
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||
Ronner EA,
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Anne S,
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||
Cohen MS</span><br />
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<span class="medgenPMjournal">JAMA Otolaryngol Head Neck Surg</span>
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2021 Jan 1;147(1):58-69.
|
||
doi: 10.1001/jamaoto.2020.3852.
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||
<span class="bold">PMID: </span><a href="/pubmed/33151295" target="_blank">33151295</a><a href="/pmc/articles/PMC7645748" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29932206">Saline irrigation for allergic rhinitis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Head K,
|
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Snidvongs K,
|
||
Glew S,
|
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Scadding G,
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Schilder AG,
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Philpott C,
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Hopkins C</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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<span class="bold">PMID: </span><a href="/pubmed/29932206" target="_blank">29932206</a><a href="/pmc/articles/PMC6513421" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2C%20X-linked%2C%20and%20sinorespiratory%20infections%2C%20with%20or%20without%20deafness%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 (374)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2749137%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C2749137%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2749137%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C2749137%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2749137%5bDISCUI%5d" target="_blank">See all (43)</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=(retinitis%20pigmentosa%2C%20x-linked%2C%20and%20sinorespiratory%20infections%2C%20with%20or%20without%20deafness)%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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