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<meta name="keywords" content="C4552070, bmpr2, bmpr2 primary pulmonary hypertension, disease or syndrome, pht, pph1, pph1 with hht, primary pulmonary hypertension caused by mutation in bmpr2, primary pulmonary hypertension-1, pulmonary arterial hypertension, pulmonary hypertension, familial primary, 1, with or without hht, pulmonary hypertension, primary, 1, pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia, pulmonary hypertension, primary, dexfenfluramine-associated, pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, pulmonary hypertension, primary, fenfluramine-associated, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013). Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary Hypertension See also PPH2 (615342), caused by mutation in the SMAD9 gene (603295) on chromosome 13q13; PPH3 (615343), caused by mutation in the CAV1 gene (601047) on chromosome 7q31; PPH4 (615344), caused by mutation in the KCNK3 gene (603220) on chromosome 2p23; PPH5 (265400), caused by mutation in the ATP13A3 gene (610232) on chromosome 3q29; and PPH6 (620777), caused by mutation in the CAPNS1 gene (114170) on chromosome 19q13. Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1; 187300), caused by mutation in the ENG gene (131195), and HHT2 (600376), caused by mutation in the ACVRL1 (ALK1) gene (601284). Pediatric-onset pulmonary hypertension may be seen in association with ischiocoxopodopatellar syndrome (ICPPS; 147891). The skeletal manifestations of ICPPS are highly variable and may not be detected in children. Parents are not likely to have PAH (Levy et al., 2016)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1643124
|
||
ConceptID=C4552070
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pulmonary hypertension, primary, 1<span class="h1sub">(PPH1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643124</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:">C4552070</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>PPH1; Pulmonary hypertension, familial primary, 1, with or without HHT</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="BMPR2 - ID: 659 - NCBI Gene" href="/gene/659" class="medgenPMinfo">BMPR2</a> (2q33.1-33.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0024533" target="_blank">MONDO:0024533</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/178600" target="_blank">178600</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013). Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary Hypertension See also PPH2 (615342), caused by mutation in the SMAD9 gene (603295) on chromosome 13q13; PPH3 (615343), caused by mutation in the CAV1 gene (601047) on chromosome 7q31; PPH4 (615344), caused by mutation in the KCNK3 gene (603220) on chromosome 2p23; PPH5 (265400), caused by mutation in the ATP13A3 gene (610232) on chromosome 3q29; and PPH6 (620777), caused by mutation in the CAPNS1 gene (114170) on chromosome 19q13. Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1; 187300), caused by mutation in the ENG gene (131195), and HHT2 (600376), caused by mutation in the ACVRL1 (ALK1) gene (601284). Pediatric-onset pulmonary hypertension may be seen in association with ischiocoxopodopatellar syndrome (ICPPS; 147891). The skeletal manifestations of ICPPS are highly variable and may not be detected in children. Parents are not likely to have PAH (Levy et al., 2016). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_117">
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||
<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 MedlinePlus Genetics</strong><br />Signs and symptoms of pulmonary arterial hypertension occur when increased blood pressure cannot fully overcome the elevated resistance. As a result, the flow of oxygenated blood from the lungs to the rest of the body is insufficient. Shortness of breath (dyspnea) during exertion and fainting spells are the most common symptoms of pulmonary arterial hypertension. People with this disorder may experience additional symptoms, particularly as the condition worsens. Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest pain, and a rapid heart rate.<br /><br />Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart. <a target="_blank" href="https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension">https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension</a></div></div>
|
||
</div>
|
||
|
||
<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_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_57981"><div><strong>Right ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57981</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.">C0162770</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57981">Feature record</a> | <a href="/medgen?term=%22Right%20ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2057981%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65907"><div><strong>Right ventricular failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65907</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.">C0235527</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65907">Feature record</a> | <a href="/medgen?term=%22Right%20ventricular%20failure%22%5BClinical%20Features%5D%20OR%2065907%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_306155"><div><strong>Pulmonary arterial medial hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>306155</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.">C1504382</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in mass of the tunica media of the arteries in the pulmonary circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/306155">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20arterial%20medial%20hypertrophy%22%5BClinical%20Features%5D%20OR%20306155%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_357982"><div><strong>Elevated right atrial pressure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357982</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.">C1867421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in magnitude of the pressure in the right atrium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357982">Feature record</a> | <a href="/medgen?term=%22Elevated%20right%20atrial%20pressure%22%5BClinical%20Features%5D%20OR%20357982%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_356775"><div><strong>Increased pulmonary vascular resistance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356775</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.">C1867423</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356775">Feature record</a> | <a href="/medgen?term=%22Increased%20pulmonary%20vascular%20resistance%22%5BClinical%20Features%5D%20OR%20356775%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_357276"><div><strong>Pulmonary artery vasoconstriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357276</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.">C1867424</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/357276">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20artery%20vasoconstriction%22%5BClinical%20Features%5D%20OR%20357276%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_425404"><div><strong>Pulmonary arterial hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>425404</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.">C2973725</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/425404">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20arterial%20hypertension%22%5BClinical%20Features%5D%20OR%20425404%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_893098"><div><strong>Arterial intimal fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>893098</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.">C4023403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/893098">Feature record</a> | <a href="/medgen?term=%22Arterial%20intimal%20fibrosis%22%5BClinical%20Features%5D%20OR%20893098%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870760"><div><strong>Pulmonary aterial intimal fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870760</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.">C4025217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870760">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20aterial%20intimal%20fibrosis%22%5BClinical%20Features%5D%20OR%20870760%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871247"><div><strong>Abnormal thrombosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871247</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.">C4025731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871247">Feature record</a> | <a href="/medgen?term=%22Abnormal%20thrombosis%22%5BClinical%20Features%5D%20OR%20871247%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41325"><div><strong>Cough</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41325</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.">C0010200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41325">Feature record</a> | <a href="/medgen?term=%22Cough%22%5BClinical%20Features%5D%20OR%2041325%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3938"><div><strong>Dyspnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3938</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.">C0013404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3938">Feature record</a> | <a href="/medgen?term=%22Dyspnea%22%5BClinical%20Features%5D%20OR%203938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21088"><div><strong>Telangiectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21088</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.">C0039446</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21088">Feature record</a> | <a href="/medgen?term=%22Telangiectasia%22%5BClinical%20Features%5D%20OR%2021088%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 blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal thrombosis</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_893098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arterial intimal fibrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_357982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated right atrial pressure</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356775" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased pulmonary vascular resistance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_425404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary arterial hypertension</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_306155" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary arterial medial hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_357276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary artery vasoconstriction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary aterial intimal fibrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right ventricular failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right ventricular hypertrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21088" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telangiectasia</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_41325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cough</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyspnea</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></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0152171[DISCUI]&test_type=Clinical" ref="ncbi_uid=57749">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=57749" ref="ncbi_uid=57749">V</a></span></span><span class="TLline"><a href="/medgen/57749" ref="tree=GTR&ncbi_uid=57749&link_uid=57749" title="View MedGen record for 'Primary pulmonary hypertension'">Primary pulmonary hypertension</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=468368" target="_blank" href="/omim/178600">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=468368" ref="ncbi_uid=468368">V</a></span></span><span class="TLline"><a href="/medgen/468368" ref="tree=GTR&ncbi_uid=468368&link_uid=468368" title="View MedGen record for 'Idiopathic pulmonary arterial hypertension'">Idiopathic pulmonary arterial hypertension</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5679820[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1825946">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=1825946" ref="ncbi_uid=1825946">V</a></span></span><span class="TLline"><a href="/medgen/1825946" ref="tree=GTR&ncbi_uid=1825946&link_uid=1825946" title="View MedGen record for 'Idiopathic and/or familial pulmonary arterial hypertension'">Idiopathic and/or familial pulmonary arterial hypertension</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/90953" ref="tree=GTR&ncbi_uid=90953&link_uid=90953" title="View MedGen record for 'Heritable pulmonary arterial hypertension'">Heritable pulmonary arterial hypertension</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5676877[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1802382">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1802382" target="_blank" href="/omim/265400">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=1802382" ref="ncbi_uid=1802382">V</a></span></span><span class="TLline"><a href="/medgen/1802382" ref="tree=GTR&ncbi_uid=1802382&link_uid=1802382" title="View MedGen record for 'Pulmonary hypertension, primary, autosomal recessive'">Pulmonary hypertension, primary, autosomal recessive</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1825946" ref="tree=MeSH" title="MedGen record for Idiopathic and/or familial pulmonary arterial hypertension">Idiopathic and/or familial pulmonary arterial hypertension</a></span><ul><li><span class="TLline"><a href="/medgen/468368" ref="tree=MeSH" title="MedGen record for Idiopathic pulmonary arterial hypertension">Idiopathic pulmonary arterial hypertension</a></span><ul><li><span class="TLline"><a href="/medgen/1825946" ref="tree=MeSH" title="MedGen record for Idiopathic and/or familial pulmonary arterial hypertension">Idiopathic and/or familial pulmonary arterial hypertension</a></span><ul><li><span class="TLline"><a href="/medgen/468368" ref="tree=MeSH" title="MedGen record for Idiopathic pulmonary arterial hypertension">Idiopathic pulmonary arterial hypertension</a></span><ul><li><span class="TLline"><a href="/medgen/1825946" ref="tree=MeSH" title="MedGen record for Idiopathic and/or familial pulmonary arterial hypertension">Idiopathic and/or familial pulmonary arterial hypertension</a></span><ul><li><span class="TLline"><a href="/medgen/90953" ref="tree=MeSH" title="MedGen record for Heritable pulmonary arterial hypertension">Heritable pulmonary arterial hypertension</a></span><ul><li><span class="matched_ds">Pulmonary hypertension, primary, 1</span><ul><li><span class="TLline"><a href="/medgen/942109" ref="tree=MeSH" title="MedGen record for Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated">Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated</a></span><ul><li><span class="TLline"><a href="/medgen/369987" ref="tree=MeSH" title="MedGen record for Pulmonary hypertension, primary, dexfenfluramine-associated">Pulmonary hypertension, primary, dexfenfluramine-associated</a></span></li><li><span class="TLline"><a href="/medgen/369988" ref="tree=MeSH" title="MedGen record for Pulmonary hypertension, primary, fenfluramine-associated">Pulmonary hypertension, primary, fenfluramine-associated</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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/37591300">Pulmonary hypertension associated with lung disease: new insights into pathomechanisms, diagnosis, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olsson KM,
|
||
Corte TJ,
|
||
Kamp JC,
|
||
Montani D,
|
||
Nathan SD,
|
||
Neubert L,
|
||
Price LC,
|
||
Kiely DG</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2023 Sep;11(9):820-835.
|
||
Epub 2023 Aug 14
|
||
doi: 10.1016/S2213-2600(23)00259-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37591300" target="_blank">37591300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37591298">Treatment of pulmonary arterial hypertension: recent progress and a look to the future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Humbert M,
|
||
Sitbon O,
|
||
Guignabert C,
|
||
Savale L,
|
||
Boucly A,
|
||
Gallant-Dewavrin M,
|
||
McLaughlin V,
|
||
Hoeper MM,
|
||
Weatherald J</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2023 Sep;11(9):804-819.
|
||
Epub 2023 Aug 14
|
||
doi: 10.1016/S2213-2600(23)00264-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37591298" target="_blank">37591298</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24092682">2013 classification criteria for systemic sclerosis: an American college of rheumatology/European league against rheumatism collaborative initiative.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Hoogen F,
|
||
Khanna D,
|
||
Fransen J,
|
||
Johnson SR,
|
||
Baron M,
|
||
Tyndall A,
|
||
Matucci-Cerinic M,
|
||
Naden RP,
|
||
Medsger TA Jr,
|
||
Carreira PE,
|
||
Riemekasten G,
|
||
Clements PJ,
|
||
Denton CP,
|
||
Distler O,
|
||
Allanore Y,
|
||
Furst DE,
|
||
Gabrielli A,
|
||
Mayes MD,
|
||
van Laar JM,
|
||
Seibold JR,
|
||
Czirjak L,
|
||
Steen VD,
|
||
Inanc M,
|
||
Kowal-Bielecka O,
|
||
Müller-Ladner U,
|
||
Valentini G,
|
||
Veale DJ,
|
||
Vonk MC,
|
||
Walker UA,
|
||
Chung L,
|
||
Collier DH,
|
||
Ellen Csuka M,
|
||
Fessler BJ,
|
||
Guiducci S,
|
||
Herrick A,
|
||
Hsu VM,
|
||
Jimenez S,
|
||
Kahaleh B,
|
||
Merkel PA,
|
||
Sierakowski S,
|
||
Silver RM,
|
||
Simms RW,
|
||
Varga J,
|
||
Pope JE</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2013 Nov;72(11):1747-55.
|
||
doi: 10.1136/annrheumdis-2013-204424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24092682" target="_blank">24092682</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(pulmonary%20hypertension%2C%20primary%2C%201)%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 (206)</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/39209475">Definition, classification and diagnosis of pulmonary hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kovacs G,
|
||
Bartolome S,
|
||
Denton CP,
|
||
Gatzoulis MA,
|
||
Gu S,
|
||
Khanna D,
|
||
Badesch D,
|
||
Montani D</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2024 Oct;64(4)
|
||
Epub 2024 Oct 31
|
||
doi: 10.1183/13993003.01324-2024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39209475" target="_blank">39209475</a><a href="/pmc/articles/PMC11533989" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37591298">Treatment of pulmonary arterial hypertension: recent progress and a look to the future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Humbert M,
|
||
Sitbon O,
|
||
Guignabert C,
|
||
Savale L,
|
||
Boucly A,
|
||
Gallant-Dewavrin M,
|
||
McLaughlin V,
|
||
Hoeper MM,
|
||
Weatherald J</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2023 Sep;11(9):804-819.
|
||
Epub 2023 Aug 14
|
||
doi: 10.1016/S2213-2600(23)00264-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37591298" target="_blank">37591298</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36041750">Sotatercept for the treatment of pulmonary arterial hypertension: PULSAR open-label extension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Humbert M,
|
||
McLaughlin V,
|
||
Gibbs JSR,
|
||
Gomberg-Maitland M,
|
||
Hoeper MM,
|
||
Preston IR,
|
||
Souza R,
|
||
Waxman AB,
|
||
Ghofrani HA,
|
||
Escribano Subias P,
|
||
Feldman J,
|
||
Meyer G,
|
||
Montani D,
|
||
Olsson KM,
|
||
Manimaran S,
|
||
de Oliveira Pena J,
|
||
Badesch DB</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2023 Jan;61(1)
|
||
Epub 2023 Jan 6
|
||
doi: 10.1183/13993003.01347-2022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36041750" target="_blank">36041750</a><a href="/pmc/articles/PMC9816418" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24134901">Targeted therapies in pulmonary arterial hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Montani D,
|
||
Chaumais MC,
|
||
Guignabert C,
|
||
Günther S,
|
||
Girerd B,
|
||
Jaïs X,
|
||
Algalarrondo V,
|
||
Price LC,
|
||
Savale L,
|
||
Sitbon O,
|
||
Simonneau G,
|
||
Humbert M</span><br />
|
||
<span class="medgenPMjournal">Pharmacol Ther</span>
|
||
2014 Feb;141(2):172-91.
|
||
Epub 2013 Oct 14
|
||
doi: 10.1016/j.pharmthera.2013.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24134901" target="_blank">24134901</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22118120">Pulmonary arterial hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Centeno MM</span><br />
|
||
<span class="medgenPMjournal">Crit Care Nurs Clin North Am</span>
|
||
2011 Dec;23(4):645-59.
|
||
doi: 10.1016/j.ccell.2011.08.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22118120" target="_blank">22118120</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20hypertension%2C%20primary%2C%201%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 (1040)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39209475">Definition, classification and diagnosis of pulmonary hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kovacs G,
|
||
Bartolome S,
|
||
Denton CP,
|
||
Gatzoulis MA,
|
||
Gu S,
|
||
Khanna D,
|
||
Badesch D,
|
||
Montani D</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2024 Oct;64(4)
|
||
Epub 2024 Oct 31
|
||
doi: 10.1183/13993003.01324-2024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39209475" target="_blank">39209475</a><a href="/pmc/articles/PMC11533989" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38461018">Managing Pulmonary Arterial Hypertension With Cardiopulmonary Comorbidities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Provencher S,
|
||
Mai V,
|
||
Bonnet S</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2024 Mar;165(3):682-691.
|
||
doi: 10.1016/j.chest.2023.08.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38461018" target="_blank">38461018</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37450768">Pulmonary Hypertension: A Contemporary Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson S,
|
||
Sommer N,
|
||
Cox-Flaherty K,
|
||
Weissmann N,
|
||
Ventetuolo CE,
|
||
Maron BA</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
|
||
2023 Sep 1;208(5):528-548.
|
||
doi: 10.1164/rccm.202302-0327SO.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37450768" target="_blank">37450768</a><a href="/pmc/articles/PMC10492255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36982160">Systemic Lupus Erythematosus and Pulmonary Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parperis K,
|
||
Velidakis N,
|
||
Khattab E,
|
||
Gkougkoudi E,
|
||
Kadoglou NPE</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Mar 7;24(6)
|
||
doi: 10.3390/ijms24065085.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36982160" target="_blank">36982160</a><a href="/pmc/articles/PMC10049584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34737219">The physiological basis of pulmonary arterial hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naeije R,
|
||
Richter MJ,
|
||
Rubin LJ</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2022 Jun;59(6)
|
||
Epub 2022 Jun 16
|
||
doi: 10.1183/13993003.02334-2021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34737219" target="_blank">34737219</a><a href="/pmc/articles/PMC9203839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20hypertension%2C%20primary%2C%201%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 (983)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39209475">Definition, classification and diagnosis of pulmonary hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kovacs G,
|
||
Bartolome S,
|
||
Denton CP,
|
||
Gatzoulis MA,
|
||
Gu S,
|
||
Khanna D,
|
||
Badesch D,
|
||
Montani D</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2024 Oct;64(4)
|
||
Epub 2024 Oct 31
|
||
doi: 10.1183/13993003.01324-2024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39209475" target="_blank">39209475</a><a href="/pmc/articles/PMC11533989" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37591298">Treatment of pulmonary arterial hypertension: recent progress and a look to the future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Humbert M,
|
||
Sitbon O,
|
||
Guignabert C,
|
||
Savale L,
|
||
Boucly A,
|
||
Gallant-Dewavrin M,
|
||
McLaughlin V,
|
||
Hoeper MM,
|
||
Weatherald J</span><br />
|
||
<span class="medgenPMjournal">Lancet Respir Med</span>
|
||
2023 Sep;11(9):804-819.
|
||
Epub 2023 Aug 14
|
||
doi: 10.1016/S2213-2600(23)00264-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37591298" target="_blank">37591298</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36982922">New Drugs and Therapies in Pulmonary Arterial Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah AJ,
|
||
Beckmann T,
|
||
Vorla M,
|
||
Kalra DK</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Mar 19;24(6)
|
||
doi: 10.3390/ijms24065850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36982922" target="_blank">36982922</a><a href="/pmc/articles/PMC10058689" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36041750">Sotatercept for the treatment of pulmonary arterial hypertension: PULSAR open-label extension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Humbert M,
|
||
McLaughlin V,
|
||
Gibbs JSR,
|
||
Gomberg-Maitland M,
|
||
Hoeper MM,
|
||
Preston IR,
|
||
Souza R,
|
||
Waxman AB,
|
||
Ghofrani HA,
|
||
Escribano Subias P,
|
||
Feldman J,
|
||
Meyer G,
|
||
Montani D,
|
||
Olsson KM,
|
||
Manimaran S,
|
||
de Oliveira Pena J,
|
||
Badesch DB</span><br />
|
||
<span class="medgenPMjournal">Eur Respir J</span>
|
||
2023 Jan;61(1)
|
||
Epub 2023 Jan 6
|
||
doi: 10.1183/13993003.01347-2022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36041750" target="_blank">36041750</a><a href="/pmc/articles/PMC9816418" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23984728">Macitentan and morbidity and mortality in pulmonary arterial hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pulido T,
|
||
Adzerikho I,
|
||
Channick RN,
|
||
Delcroix M,
|
||
Galiè N,
|
||
Ghofrani HA,
|
||
Jansa P,
|
||
Jing ZC,
|
||
Le Brun FO,
|
||
Mehta S,
|
||
Mittelholzer CM,
|
||
Perchenet L,
|
||
Sastry BK,
|
||
Sitbon O,
|
||
Souza R,
|
||
Torbicki A,
|
||
Zeng X,
|
||
Rubin LJ,
|
||
Simonneau G;
|
||
SERAPHIN Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2013 Aug 29;369(9):809-18.
|
||
doi: 10.1056/NEJMoa1213917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23984728" target="_blank">23984728</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20hypertension%2C%20primary%2C%201%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 (701)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37159942">Progress in the Treatment of Pulmonary Hypertension Associated with Interstitial Lung Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nathan SD</span><br />
|
||
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
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2023 Aug 1;208(3):238-246.
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<span class="bold">PMID: </span><a href="/pubmed/37159942" target="_blank">37159942</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/37026538">Revised Definition of Pulmonary Hypertension and Approach to Management: A Clinical Primer.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Maron BA</span><br />
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<span class="medgenPMjournal">J Am Heart Assoc</span>
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2023 Apr 18;12(8):e029024.
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Epub 2023 Apr 7
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<span class="bold">PMID: </span><a href="/pubmed/37026538" target="_blank">37026538</a><a href="/pmc/articles/PMC10227272" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36982160">Systemic Lupus Erythematosus and Pulmonary Hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Parperis K,
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Velidakis N,
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Khattab E,
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Gkougkoudi E,
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Kadoglou NPE</span><br />
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2023 Mar 7;24(6)
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<span class="bold">PMID: </span><a href="/pubmed/36982160" target="_blank">36982160</a><a href="/pmc/articles/PMC10049584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36649754">Portopulmonary Hypertension: Management and Liver Transplantation Evaluation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">DuBrock HM</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/36649754" target="_blank">36649754</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34655569">Novel Mechanisms Targeted by Drug Trials in Pulmonary Arterial Hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Condon DF,
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Agarwal S,
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Chakraborty A,
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<span class="bold">PMID: </span><a href="/pubmed/34655569" target="_blank">34655569</a><a href="/pmc/articles/PMC9005865" 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=%22Pulmonary%20hypertension%2C%20primary%2C%201%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 (848)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37945977">A Systematic Review of Novel Therapies of Pulmonary Arterial Hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nabeh OA,
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Saud AI,
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Amin B,
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Amr A,
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Faoosa AM,
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Hatem A,
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Osama A,
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doi: 10.1007/s40256-023-00613-5.
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<span class="bold">PMID: </span><a href="/pubmed/37945977" target="_blank">37945977</a><a href="/pmc/articles/PMC10805839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37989727">Reduced FOXF1 links unrepaired DNA damage to pulmonary arterial hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Isobe S,
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Nair RV,
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Kang HY,
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Wang L,
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Moonen JR,
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Shinohara T,
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Cao A,
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Adil MS,
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<span class="medgenPMjournal">Nat Commun</span>
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2023 Nov 21;14(1):7578.
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doi: 10.1038/s41467-023-43039-y.
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<span class="bold">PMID: </span><a href="/pubmed/37989727" target="_blank">37989727</a><a href="/pmc/articles/PMC10663616" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35551212">Sotatercept analog suppresses inflammation to reverse experimental pulmonary arterial hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Joshi SR,
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Liu J,
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Bloom T,
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<span class="bold">PMID: </span><a href="/pubmed/35551212" target="_blank">35551212</a><a href="/pmc/articles/PMC9098455" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33082079">Idiopathic pulmonary arterial hypertension phenotypes determined by cluster analysis from the COMPERA registry.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/33082079" target="_blank">33082079</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21325952">Portopulmonary hypertension.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20hypertension%2C%20primary%2C%201%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 (725)</a></div></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>
|
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37945977">A Systematic Review of Novel Therapies of Pulmonary Arterial Hypertension.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nabeh OA,
|
||
Saud AI,
|
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Amin B,
|
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Khedr AS,
|
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Amr A,
|
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Faoosa AM,
|
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Esmat E,
|
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Mahmoud YM,
|
||
Hatem A,
|
||
Mohamed M,
|
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Osama A,
|
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Soliman YMA,
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Elkorashy RI,
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Elmorsy SA</span><br />
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<span class="medgenPMjournal">Am J Cardiovasc Drugs</span>
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||
2024 Jan;24(1):39-54.
|
||
Epub 2023 Nov 9
|
||
doi: 10.1007/s40256-023-00613-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37945977" target="_blank">37945977</a><a href="/pmc/articles/PMC10805839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37686342">The Role of Aryl Hydrocarbon Receptor in the Endothelium: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guerra-Ojeda S,
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Suarez A,
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Valls A,
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Verdú D,
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Pereda J,
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Ortiz-Zapater E,
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Carretero J,
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Mauricio MD,
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Serna E</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2023 Aug 31;24(17)
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doi: 10.3390/ijms241713537.
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||
<span class="bold">PMID: </span><a href="/pubmed/37686342" target="_blank">37686342</a><a href="/pmc/articles/PMC10488274" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36721907">Pulmonary vasodilator therapies in pulmonary arterial hypertension associated with CHD: a systematic review and network meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yasuhara J,
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Watanabe K,
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Watanabe A,
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Shirasu T,
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Matsuzaki Y,
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Watanabe H,
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Takagi H,
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Sumitomo N,
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Kuno T</span><br />
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<span class="medgenPMjournal">Cardiol Young</span>
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2023 Nov;33(11):2297-2311.
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Epub 2023 Feb 1
|
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doi: 10.1017/S1047951123000124.
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||
<span class="bold">PMID: </span><a href="/pubmed/36721907" target="_blank">36721907</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36038916">New progress in diagnosis and treatment of pulmonary arterial hypertension.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang ZQ,
|
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Zhu SK,
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Wang M,
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Wang XA,
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Tong XH,
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Wan JQ,
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Ding JW</span><br />
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<span class="medgenPMjournal">J Cardiothorac Surg</span>
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2022 Aug 29;17(1):216.
|
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doi: 10.1186/s13019-022-01947-y.
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<span class="bold">PMID: </span><a href="/pubmed/36038916" target="_blank">36038916</a><a href="/pmc/articles/PMC9422157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32024722">Schistosomiasis-associated pulmonary arterial hypertension: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knafl D,
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Gerges C,
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King CH,
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Humbert M,
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Bustinduy AL</span><br />
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<span class="medgenPMjournal">Eur Respir Rev</span>
|
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2020 Mar 31;29(155)
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Epub 2020 Feb 5
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|
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<span class="bold">PMID: </span><a href="/pubmed/32024722" target="_blank">32024722</a><a href="/pmc/articles/PMC9488905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20hypertension%2C%20primary%2C%201%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 (26)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4552070%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (49)</a></li>
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<li><a href="/gtr/tests?term=C4552070%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (56)</a></li>
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<li><a href="/gtr/tests?term=C4552070%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4552070%5bDISCUI%5d" target="_blank">See all (63)</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=(pulmonary%20hypertension%2C%20primary%2C%201)%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(%22Pulmonary%20hypertension%2C%20primary%2C%201%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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|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600799" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=659[geneid]" target="_blank">View BMPR2 variations in ClinVar</a></li><li><a href="/nuccore/221139818" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=178600" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/pulmonary_hypertension_primary_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Pulmonary%20hypertension,%20primary,%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/pulmonary-arterial-hypertension" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
|
||
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<div class="portlet brieflink">
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<h3>Reviews</h3>
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<ul>
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||
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|
||
<a href="/pubmed/20301658" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
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|
||
<a href="/pubmed/clinical?term=Pulmonary%20hypertension,%20primary,%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
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|
||
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|
||
<a href="/pubmed?term=Pulmonary%20hypertension,%20primary,%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
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|
||
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|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1643124" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1643124" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4552070[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4552070[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=1643124" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1643124" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1643124" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=1643124" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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</li>
|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1643124" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1643124" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
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|
||
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|
||
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|
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Clear
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Turn On
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca7b12f4a390645eb9b797">Pulmonary hypertension, primary, 1</a>
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<div class="ralinkpop offscreen_noflow">Pulmonary hypertension, primary, 1<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca7b1084f3725e59ab2d5c">C4552070[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca7b0fa68b6b5afce3992b">C4225347[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(771)</span></a>
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<div class="ralinkpop offscreen_noflow">C4225347[trait identifier] AND "Labcorp Genetics (formerly Invitae), Labcorp"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca7b0eb15b832ebc804d74">Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4</a>
|
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<div class="ralinkpop offscreen_noflow">Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ca7b0bb15b832ebc803e54">C4225347[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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