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

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.

Genes - 30 Sept 2020

Castaño Jair Antonio Tenorio, Hernández-Gonzalez Ignacio, Gallego Natalia, Pérez-Olivares Carmen, Ochoa Parra Nuria, Arias Pedro, Granda Elena, Acebo Gonzalo Gómez, Lago-Docampo Mauro, Palomino-Doza Julian, López Meseguer Manuel, Del Cerro María Jesús, Pah Consortium Spanish, Valverde Diana, Lapunzina Pablo, Escribano-Subías Pilar

Abstract excerpt

Pulmonary arterial hypertension is a very infrequent disease, with a variable etiology and clinical expressivity, making sometimes the clinical diagnosis a challenge. Current classification based on clinical features does not reflect the underlying molecular profiling of these groups. The advance in massive parallel sequencing in PAH has allowed for the describing of several new causative and susceptibility genes...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Connective Tissue Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Familial Primary Pulmonary Hypertension

Share to Genetic Association Studies

Share to Genetic Testing

Share to Heart Defects, Congenital

Share to High-Throughput Nucleotide Sequencing

Share to Inheritance Patterns

Source

Open in PubMed Open full text

Identifiers

PMID: 33007923
DOI: 10.3390/genes11101158
PMCID: PMC7650688

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.PMID 33007923Read ↗

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

Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.Semantic proximity Read ↗

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

Genetic analysis and clinical phenotype of pulmonary arterial hypertension in an Algerian population.Semantic proximity Read ↗

Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension.Semantic proximity Read ↗

Development of computational approaches for whole-genome sequence variation and deep phenotypingSemantic proximity Read ↗

Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.Semantic proximity Read ↗

Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic toolSemantic proximity Read ↗

Exploring hypoxia driven subtypes of pulmonary arterial hypertension through transcriptomics single cell sequencing and machine learningSemantic proximity Read ↗

A systematic review of genetic mutations in pulmonary arterial hypertension.Semantic proximity Read ↗

The prevalence of pathogenic variants in the BMPR2 gene in patients with idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysisSemantic 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 ↗

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