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

The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension.

The Journal of pediatrics - 1 Oct 2020

Haarman Meindina G, Kerstjens-Frederikse Wilhelmina S, Vissia-Kazemier Theresia R, Breeman Karel T N, Timens Wim, Vos Yvonne J, Roofthooft Marc T R, Hillege Hans L, Berger Rolf M F

Abstract excerpt

OBJECTIVE: To describe the prevalence of pulmonary arterial hypertension (PAH)-associated gene mutations, and other genetic characteristics in a national cohort of children with PAH from the Dutch National registry and to explore genotype-phenotype associations and outcomes. STUDY DESIGN: Children (n = 70) diagnosed with idiopathic PAH, heritable PAH, PAH associated with congenital heart disease with coincidental...

Read the complete abstract on PubMed

Topics

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

Share to Activin Receptors, Type II
Share to Bone Morphogenetic Protein Receptors, Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Contracture

Share to Noonan Syndrome

Share to Potassium Channels, Tandem Pore Domain

Share to Pulmonary Arterial Hypertension

Share to Vitamin B 12

Share to Vitamin B 12 Deficiency

Source

Identifiers

PMID: 32502478
DOI: 10.1016/j.jpeds.2020.05.051

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension.PMID 32502478Read ↗

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

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

The preponderance of genetic variations in paediatric pulmonary hypertension.Semantic proximity Read ↗

Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension.Semantic proximity Read ↗

Genetics and Genomics of Pediatric Pulmonary Arterial HypertensionSemantic proximity Read ↗

The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.Semantic proximity Read ↗

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

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

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

The genetic basis of pulmonary arterial hypertension.Semantic proximity Read ↗

The role of genetics in 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 ↗

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