Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases

21 Dec 2018

Abstract excerpt

Background Heritable forms of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis (PVOD/PCH) diverge by lung histopathological lesions, clinical and para-clinical presentation, their responsible genes, and mode of transmission. Since the identification of theBMPR2gene in families affected by PAH, mutations in several other genes have been discovered for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy and Myosin Studies
Share to Liver physiology and pathology
Share to Pulmonary Hypertension Research and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30578383
DOI: 10.1183/13993003.01371-2018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult casesPMID 30578383Read ↗

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.Semantic proximity Read ↗

Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension.Semantic proximity Read ↗

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.Semantic proximity Read ↗

Genetics and Other Omics in Pediatric Pulmonary Arterial Hypertension.Semantic proximity Read ↗

Genetic analyses in a cohort of children with pulmonary hypertension.Semantic proximity Read ↗

Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.Semantic proximity Read ↗

The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension.Semantic proximity Read ↗

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension.Semantic proximity Read ↗

Heritable Forms of Pulmonary Arterial HypertensionSemantic proximity Read ↗

Genes that drive the pathobiology of pediatric pulmonary arterial hypertension.Semantic proximity Read ↗

Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate <i>FBLN2</i> , <i>PDGFD</i> and rare <i>de novo</i> variants in PAHSemantic proximity Read ↗

Genetics and genomics of pulmonary arterial hypertensionSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.