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<meta name="keywords" content="C4310752, disease or syndrome, duane retraction syndrome 3, duane retraction syndrome 3 with or without deafness, duane retraction syndrome caused by mutation in mafb, duane syndrome type 3, durs3, mafb, mafb duane retraction syndrome, 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="Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=934719
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ConceptID=C4310752
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Duane retraction syndrome 3 with or without deafness<span class="h1sub">(DURS3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934719</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:">C4310752</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DUANE RETRACTION SYNDROME 3; Duane syndrome type 3; DURS3</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="MAFB - ID: 9935 - NCBI Gene" href="/gene/9935" class="medgenPMinfo">MAFB</a> (20q12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014880" target="_blank">MONDO:0014880</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617041" target="_blank">617041</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_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1190" target="_blank">Duane Syndrome</a></div><div>Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1190#duane.Summary" target="NBK1190">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1190#duane.Diagnosis" target="NBK1190">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1190#duane.Clinical_Characteristics" target="NBK1190">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1190#duane.Genetically_Related_Allelic_Disord" target="NBK1190">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1190#duane.Differential_Diagnosis" target="NBK1190">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1190#duane.Management" target="NBK1190">Management</a> | <a class="medgenPMinfo" href="/books/NBK1190#duane.Genetic_Counseling" target="NBK1190">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1190#duane.Resources" target="NBK1190">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1190#duane.Molecular_Genetics" target="NBK1190">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1190#duane.Chapter_Notes" target="NBK1190">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1190#duane.References" target="NBK1190">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Brenda J Barry | Mary C Whitman | David G Hunter<i>, et. al.</i> <a href="/books/NBK1190" target="NBK1190" title="NCBI Bookshelf: Duane Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Duane retraction syndrome (DURS) is the most common congenital disorder of cranial dysinnervation, with a prevalence of 1 in 1,000 individuals. Affected individuals have limited unilateral or bilateral horizontal eye movement, accompanied by globe retraction and palpebral fissure narrowing on attempted adduction (movement of the eye inward, toward the nose). DURS can be classified into 3 types: type 1, the most common, involves limited abduction (movement of the eye outward toward the ear); type 2, the least common, involves limited adduction; and type 3 involves limitation of both abduction and adduction. MRI and postmortem examination of patients with DURS have shown absence or hypoplasia of the abducens nerve, which normally innervates the lateral rectus (LR) extraocular muscle to abduct the eye, as well as aberrant LR muscle innervation by axons of the oculomotor nerve, which normally innervates the medial, inferior, and superior rectus and inferior oblique extraocular muscles (summary by Park et al., 2016).
|
||
For a discussion of genetic heterogeneity of Duane retraction syndrome, see DURS1 (126800). <a target="_blank" href="http://www.omim.org/entry/617041">http://www.omim.org/entry/617041</a></div></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_235586"><div><strong>Hearing impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235586</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.">C1384666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased magnitude of the sensory perception of sound.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235586">Feature record</a> | <a href="/medgen?term=%22Hearing%20impairment%22%5BClinical%20Features%5D%20OR%20235586%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375896"><div><strong>Palpebral fissure narrowing on adduction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375896</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.">C1846465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375896">Feature record</a> | <a href="/medgen?term=%22Palpebral%20fissure%20narrowing%20on%20adduction%22%5BClinical%20Features%5D%20OR%20375896%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4413"><div><strong>Duane retraction syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4413</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.">C0013261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4413">Feature record</a> | <a href="/medgen?term=%22Duane%20retraction%20syndrome%22%5BClinical%20Features%5D%20OR%204413%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375894"><div><strong>Impaired ocular abduction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375894</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.">C1846462</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An impaired ability of the eye to move in the outward direction (towards the side of the head).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375894">Feature record</a> | <a href="/medgen?term=%22Impaired%20ocular%20abduction%22%5BClinical%20Features%5D%20OR%20375894%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337588"><div><strong>Impaired ocular adduction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337588</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.">C1846463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability to move the eye in the direction of the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337588">Feature record</a> | <a href="/medgen?term=%22Impaired%20ocular%20adduction%22%5BClinical%20Features%5D%20OR%20337588%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">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palpebral fissure narrowing on adduction</a></span></li></ul></li><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_4413" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duane retraction syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired ocular abduction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337588" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired ocular adduction</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_235586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hearing impairment</a></span></li></ul></li></ul></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=(duane%20retraction%20syndrome%203%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 (1091)</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/39794722">Astigmatism in Duane Retraction Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khorrami-Nejad M,
|
||
Akbari MR,
|
||
Masoomian B,
|
||
Mahmood HA,
|
||
Daneshvar K,
|
||
Majdi A</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2025 Jan 10;25(1):15.
|
||
doi: 10.1186/s12886-025-03855-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39794722" target="_blank">39794722</a><a href="/pmc/articles/PMC11724463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/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=%22Duane%20retraction%20syndrome%203%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 (9608)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36444857">Keratitis-ichthyosis-deafness syndrome: A comprehensive review of cutaneous and systemic manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alsabbagh MM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2023 Jan;40(1):19-27.
|
||
Epub 2022 Nov 29
|
||
doi: 10.1111/pde.15201.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36444857" target="_blank">36444857</a></div>
|
||
|
||
<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/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=%22Duane%20retraction%20syndrome%203%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 (9548)</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.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38839897" target="_blank">38839897</a><a href="/pmc/articles/PMC11271389" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38280389">AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lv J,
|
||
Wang H,
|
||
Cheng X,
|
||
Chen Y,
|
||
Wang D,
|
||
Zhang L,
|
||
Cao Q,
|
||
Tang H,
|
||
Hu S,
|
||
Gao K,
|
||
Xun M,
|
||
Wang J,
|
||
Wang Z,
|
||
Zhu B,
|
||
Cui C,
|
||
Gao Z,
|
||
Guo L,
|
||
Yu S,
|
||
Jiang L,
|
||
Yin Y,
|
||
Zhang J,
|
||
Chen B,
|
||
Wang W,
|
||
Chai R,
|
||
Chen ZY,
|
||
Li H,
|
||
Shu Y</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2024 May 25;403(10441):2317-2325.
|
||
Epub 2024 Jan 24
|
||
doi: 10.1016/S0140-6736(23)02874-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38280389" target="_blank">38280389</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38189623">AAV-Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qi J,
|
||
Tan F,
|
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Lu L,
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Zhang S,
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Zhai Y,
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Dong W,
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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 class="portlet_content ln"><span class="medgenPMauthor">Sack MN,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Duane%20retraction%20syndrome%203%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 (3845)</a></div><h3 class="subhead">Prognosis</h3>
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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="nl"><a target="_blank" href="/pubmed/22931903">Review: cochlear implants as a treatment of tinnitus in single-sided deafness.</a></div>
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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="portlet_content ln"><span class="medgenPMauthor">Musiek FE,
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Daniels SB</span><br />
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2010 Jun;11 Suppl 1:15-28.
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doi: 10.1179/146701010X12671178390753.
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<span class="bold">PMID: </span><a href="/pubmed/21756581" target="_blank">21756581</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1878019">Deafness in children.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/3839478">Perceptual capabilities with the cochlear implant: implications for aural rehabilitation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Eisenberg LS</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/3839478" target="_blank">3839478</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Duane%20retraction%20syndrome%203%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 (4862)</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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<span class="medgenPMjournal">Cochlear Implants Int</span>
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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="medgenPMjournal">Am Ann Deaf</span>
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doi: 10.1353/aad.2023.0004.
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<span class="bold">PMID: </span><a href="/pubmed/38661776" target="_blank">38661776</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/36928321">Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Salame M,
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Bonnet C,
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Moctar ECM,
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Brahim SM,
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Dedy A,
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Vetah LA,
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Veten F,
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Hamed CT,
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Petit C,
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Houmeida A</span><br />
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<span class="medgenPMjournal">Eur Arch Otorhinolaryngol</span>
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2023 Sep;280(9):4057-4063.
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<span class="bold">PMID: </span><a href="/pubmed/36928321" target="_blank">36928321</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31971537">Retinal Pigment Abnormalities in a Woman With Diabetes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lyons RJ,
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Jain N</span><br />
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<span class="medgenPMjournal">JAMA Ophthalmol</span>
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2020 Mar 1;138(3):316-317.
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doi: 10.1001/jamaophthalmol.2019.4992.
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<span class="bold">PMID: </span><a href="/pubmed/31971537" target="_blank">31971537</a></div>
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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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2001 Jul-Aug;6(4):211-5.
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<span class="bold">PMID: </span><a href="/pubmed/11694730" target="_blank">11694730</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Duane%20retraction%20syndrome%203%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 (7190)</a></div></div>
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="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>
|
||
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
|
||
doi: 10.1159/000515821.
|
||
<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>
|
||
<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.
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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>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/29932206">Saline irrigation for allergic rhinitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Head K,
|
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Snidvongs K,
|
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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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2018 Jun 22;6(6):CD012597.
|
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doi: 10.1002/14651858.CD012597.pub2.
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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>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Duane%20retraction%20syndrome%203%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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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4310752%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
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<li><a href="/gtr/tests?term=C4310752%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
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