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<meta name="keywords" content="C1862170, bilginturan brachydactyly, bilginturan syndrome, brachydactyly and arterial hypertension syndrome, brachydactyly type e with short stature and hypertension, brachydactyly type e, with short stature and hypertension, brachydactyly with hypertension, brachydactyly, type e, with short stature and hypertension, brachydactyly-arterial hypertension syndrome, disease or syndrome, htnb, hypertension and brachydactyly syndrome, hypertension with brachydactyly, pde3a, 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="The hypertension and brachydactyly syndrome (HTNB) is characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated (summary by Maass et al., 2015)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Brachydactyly-arterial hypertension syndrome (Concept Id: C1862170)
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<!--
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UID=349445
|
||
ConceptID=C1862170
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Brachydactyly-arterial hypertension syndrome<span class="h1sub">(HTNB)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349445</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:">C1862170</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>BILGINTURAN SYNDROME; Brachydactyly type E with short stature and hypertension; Brachydactyly with hypertension</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Brachydactyly and arterial hypertension syndrome (720568003); Bilginturan brachydactyly (720568003); Bilginturan syndrome (720568003); Brachydactyly type E with short stature and hypertension (720568003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant 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="PDE3A - ID: 5139 - NCBI Gene" href="/gene/5139" class="medgenPMinfo">PDE3A</a> (12p12.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007211" target="_blank">MONDO:0007211</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/112410" target="_blank">112410</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=1276">ORPHA1276</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
|
||
<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">The hypertension and brachydactyly syndrome (HTNB) is characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated (summary by Maass et al., 2015). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_163753"><div><strong>Short phalanx of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163753</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.">C0877165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Short (hypoplastic) phalanx of finger, affecting one or more phalanges.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163753">Feature record</a> | <a href="/medgen?term=%22Short%20phalanx%20of%20finger%22%5BClinical%20Features%5D%20OR%20163753%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323064"><div><strong>Short metacarpal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323064</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.">C1837084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323064">Feature record</a> | <a href="/medgen?term=%22Short%20metacarpal%22%5BClinical%20Features%5D%20OR%20323064%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_939359"><div><strong>Brachydactyly type E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>939359</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.">C4315392</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brachydactyly type E comprises one or more shortened metacarpals and metatarsals (summary by Johnson et al., 2003). Another form of brachydactyly type E, BDE2 (613382), is caused by heterozygous mutation in the PTHLH gene (168470) on chromosome 12p11. Also see the hypertension and brachydactyly syndrome (112410).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/939359">Feature record</a> | <a href="/medgen?term=%22Brachydactyly%20type%20E%22%5BClinical%20Features%5D%20OR%20939359%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</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.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87607"><div><strong>Short stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87607</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.">C0349588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87607">Feature record</a> | <a href="/medgen?term=%22Short%20stature%22%5BClinical%20Features%5D%20OR%2087607%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_351282"><div><strong>Cone-shaped epiphysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351282</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.">C1865037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351282">Feature record</a> | <a href="/medgen?term=%22Cone-shaped%20epiphysis%22%5BClinical%20Features%5D%20OR%20351282%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_939359" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachydactyly type E</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short metacarpal</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short phalanx of finger</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_351282" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-shaped epiphysis</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature</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=C1862170[DISCUI]&test_type=Clinical" ref="ncbi_uid=349445">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349445" target="_blank" href="/omim/112410">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=349445" ref="ncbi_uid=349445">V</a></span></span><span class="TLline">Brachydactyly-arterial hypertension syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842392" ref="tree=MeSH" title="MedGen record for Dysostosis with brachydactyly with extraskeletal manifestations">Dysostosis with brachydactyly with extraskeletal manifestations</a></span><ul><li><span class="matched_ds">Brachydactyly-arterial hypertension syndrome</span></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=1511&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Brachydactyly-arterial hypertension syndrome</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/38033089">2023 ACC/AHA/ACCP/HRS Guideline for the Diagnosis and Management of Atrial Fibrillation: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joglar JA,
|
||
Chung MK,
|
||
Armbruster AL,
|
||
Benjamin EJ,
|
||
Chyou JY,
|
||
Cronin EM,
|
||
Deswal A,
|
||
Eckhardt LL,
|
||
Goldberger ZD,
|
||
Gopinathannair R,
|
||
Gorenek B,
|
||
Hess PL,
|
||
Hlatky M,
|
||
Hogan G,
|
||
Ibeh C,
|
||
Indik JH,
|
||
Kido K,
|
||
Kusumoto F,
|
||
Link MS,
|
||
Linta KT,
|
||
Marcus GM,
|
||
McCarthy PM,
|
||
Patel N,
|
||
Patton KK,
|
||
Perez MV,
|
||
Piccini JP,
|
||
Russo AM,
|
||
Sanders P,
|
||
Streur MM,
|
||
Thomas KL,
|
||
Times S,
|
||
Tisdale JE,
|
||
Valente AM,
|
||
Van Wagoner DR;
|
||
Peer Review Committee Members</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2024 Jan 2;149(1):e1-e156.
|
||
Epub 2023 Nov 30
|
||
doi: 10.1161/CIR.0000000000001193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38033089" target="_blank">38033089</a><a href="/pmc/articles/PMC11095842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37471501">2023 AHA/ACC/ACCP/ASPC/NLA/PCNA Guideline for the Management of Patients With Chronic Coronary Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Virani SS,
|
||
Newby LK,
|
||
Arnold SV,
|
||
Bittner V,
|
||
Brewer LC,
|
||
Demeter SH,
|
||
Dixon DL,
|
||
Fearon WF,
|
||
Hess B,
|
||
Johnson HM,
|
||
Kazi DS,
|
||
Kolte D,
|
||
Kumbhani DJ,
|
||
LoFaso J,
|
||
Mahtta D,
|
||
Mark DB,
|
||
Minissian M,
|
||
Navar AM,
|
||
Patel AR,
|
||
Piano MR,
|
||
Rodriguez F,
|
||
Talbot AW,
|
||
Taqueti VR,
|
||
Thomas RJ,
|
||
van Diepen S,
|
||
Wiggins B,
|
||
Williams MS;
|
||
Peer Review Committee Members</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2023 Aug 29;148(9):e9-e119.
|
||
Epub 2023 Jul 20
|
||
doi: 10.1161/CIR.0000000000001168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37471501" target="_blank">37471501</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37318239">European Society of Endocrinology clinical practice guidelines on the management of adrenal incidentalomas, in collaboration with the European Network for the Study of Adrenal Tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fassnacht M,
|
||
Tsagarakis S,
|
||
Terzolo M,
|
||
Tabarin A,
|
||
Sahdev A,
|
||
Newell-Price J,
|
||
Pelsma I,
|
||
Marina L,
|
||
Lorenz K,
|
||
Bancos I,
|
||
Arlt W,
|
||
Dekkers OM</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2023 Jul 20;189(1):G1-G42.
|
||
doi: 10.1093/ejendo/lvad066.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37318239" target="_blank">37318239</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(brachydactyly-arterial%20hypertension%20syndrome)%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 (3026)</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/36045149">Primary aldosteronism - a multidimensional syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turcu AF,
|
||
Yang J,
|
||
Vaidya A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2022 Nov;18(11):665-682.
|
||
Epub 2022 Aug 31
|
||
doi: 10.1038/s41574-022-00730-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36045149" target="_blank">36045149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34444726">Ketogenic Diet, Physical Activity, and Hypertension-A Narrative Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Raimondo D,
|
||
Buscemi S,
|
||
Musiari G,
|
||
Rizzo G,
|
||
Pirera E,
|
||
Corleo D,
|
||
Pinto A,
|
||
Tuttolomondo A</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2021 Jul 27;13(8)
|
||
doi: 10.3390/nu13082567.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34444726" target="_blank">34444726</a><a href="/pmc/articles/PMC8398985" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32388582">Obesity, metabolic syndrome, and primary hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litwin M,
|
||
Kułaga Z</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2021 Apr;36(4):825-837.
|
||
Epub 2020 May 9
|
||
doi: 10.1007/s00467-020-04579-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32388582" target="_blank">32388582</a><a href="/pmc/articles/PMC7910261" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33159664">Practice Recommendations for Diagnosis and Treatment of the Most Common Forms of Secondary Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi GP,
|
||
Bisogni V,
|
||
Rossitto G,
|
||
Maiolino G,
|
||
Cesari M,
|
||
Zhu R,
|
||
Seccia TM</span><br />
|
||
<span class="medgenPMjournal">High Blood Press Cardiovasc Prev</span>
|
||
2020 Dec;27(6):547-560.
|
||
Epub 2020 Nov 7
|
||
doi: 10.1007/s40292-020-00415-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33159664" target="_blank">33159664</a><a href="/pmc/articles/PMC7661394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33004135">Preeclampsia-Pathophysiology and Clinical Presentations: JACC State-of-the-Art Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ives CW,
|
||
Sinkey R,
|
||
Rajapreyar I,
|
||
Tita ATN,
|
||
Oparil S</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2020 Oct 6;76(14):1690-1702.
|
||
doi: 10.1016/j.jacc.2020.08.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33004135" target="_blank">33004135</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachydactyly-arterial%20hypertension%20syndrome%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 (28086)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36045149">Primary aldosteronism - a multidimensional syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turcu AF,
|
||
Yang J,
|
||
Vaidya A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2022 Nov;18(11):665-682.
|
||
Epub 2022 Aug 31
|
||
doi: 10.1038/s41574-022-00730-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36045149" target="_blank">36045149</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33159664">Practice Recommendations for Diagnosis and Treatment of the Most Common Forms of Secondary Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossi GP,
|
||
Bisogni V,
|
||
Rossitto G,
|
||
Maiolino G,
|
||
Cesari M,
|
||
Zhu R,
|
||
Seccia TM</span><br />
|
||
<span class="medgenPMjournal">High Blood Press Cardiovasc Prev</span>
|
||
2020 Dec;27(6):547-560.
|
||
Epub 2020 Nov 7
|
||
doi: 10.1007/s40292-020-00415-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33159664" target="_blank">33159664</a><a href="/pmc/articles/PMC7661394" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33004135">Preeclampsia-Pathophysiology and Clinical Presentations: JACC State-of-the-Art Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ives CW,
|
||
Sinkey R,
|
||
Rajapreyar I,
|
||
Tita ATN,
|
||
Oparil S</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2020 Oct 6;76(14):1690-1702.
|
||
doi: 10.1016/j.jacc.2020.08.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33004135" target="_blank">33004135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31776692">Hypertensive Disorders of Pregnancy and Future Maternal Health: How Can the Evidence Guide Postpartum Management?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hauspurg A,
|
||
Countouris ME,
|
||
Catov JM</span><br />
|
||
<span class="medgenPMjournal">Curr Hypertens Rep</span>
|
||
2019 Nov 27;21(12):96.
|
||
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/30590482">Genetics of Human Primary Hypertension: Focus on Hormonal Mechanisms.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Manosroi W,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachydactyly-arterial%20hypertension%20syndrome%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 (20609)</a></div><h3 class="subhead">Therapy</h3>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachydactyly-arterial%20hypertension%20syndrome%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 (13733)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33159664">Practice Recommendations for Diagnosis and Treatment of the Most Common Forms of Secondary Hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rossi GP,
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Bisogni V,
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<div class="nl"><a target="_blank" href="/pubmed/9308603">Hypertension and coronary artery disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Srikanthan VS,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachydactyly-arterial%20hypertension%20syndrome%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 (13488)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/36100483">Epidemiology of Renal Cell Carcinoma: 2022 Update.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bukavina L,
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Bensalah K,
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Bray F,
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Carlo M,
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Challacombe B,
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Karam JA,
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Kassouf W,
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Mitchell T,
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Montironi R,
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O'Brien T,
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Panebianco V,
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Scelo G,
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Shuch B,
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van Poppel H,
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Blosser CD,
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Psutka SP</span><br />
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<span class="medgenPMjournal">Eur Urol</span>
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2022 Nov;82(5):529-542.
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Epub 2022 Sep 10
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<span class="bold">PMID: </span><a href="/pubmed/36100483" target="_blank">36100483</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34391246">Effect of yoga on polycystic ovarian syndrome: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thakur D,
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Saurabh Singh DS,
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Tripathi DM,
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Lufang D</span><br />
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2021 Jul;27:281-286.
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<span class="bold">PMID: </span><a href="/pubmed/34391246" target="_blank">34391246</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33155924">Cardiovascular Changes in Menopause.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nair AR,
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Pillai AJ,
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Nair N</span><br />
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||
<div class="nl"><a target="_blank" href="/pubmed/32510905">Hypertensive emergencies and urgencies in emergency departments: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Astarita A,
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Covella M,
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Vallelonga F,
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Cesareo M,
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Totaro S,
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Ventre L,
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Aprà F,
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Veglio F,
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Milan A</span><br />
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<span class="medgenPMjournal">J Hypertens</span>
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2020 Jul;38(7):1203-1210.
|
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<span class="bold">PMID: </span><a href="/pubmed/32510905" target="_blank">32510905</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/28445426">The Effects of Magnesium Supplementation on Subjective Anxiety and Stress-A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Boyle NB,
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Lawton C,
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Dye L</span><br />
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<span class="medgenPMjournal">Nutrients</span>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brachydactyly-arterial%20hypertension%20syndrome%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 (929)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1862170%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
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<li><a href="/gtr/tests?term=C1862170%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
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<li><a href="/gtr/tests?term=C1862170%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1862170%5bDISCUI%5d" target="_blank">See all (7)</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=(brachydactyly-arterial%20hypertension%20syndrome)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Brachydactyly-arterial%20hypertension%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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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