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

Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension.

American journal of respiratory and critical care medicine - 1 Nov 2012

Larkin Emma K, Newman John H, Austin Eric D, Hemnes Anna R, Wheeler Lisa, Robbins Ivan M, West James D, Phillips John A, Hamid Rizwan, Loyd James E

Abstract excerpt

RATIONALE: Analysis of the age of onset in heritable pulmonary arterial hypertension (HPAH) has led to the hypothesis that genetic anticipation causes younger age of onset and death in subsequent generations. With accrual of pedigree data over multiple decades, we retested this hypothesis using analyses that eliminate the truncation of data that exists with shorter duration of follow-up. OBJECTIVES: To analyze...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Anticipation, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone Morphogenetic Protein Receptors, Type II

Share to Familial Primary Pulmonary Hypertension

Share to Hypertension, Pulmonary

Share to Kaplan-Meier Estimate

Share to Pedigree

Share to Registries

Source

Open in PubMed Open full text

Identifiers

PMID: 22923661
DOI: 10.1164/rccm.201205-0886OC
PMCID: PMC3530218

Genes

BMPR2

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

Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension.PMID 22923661Read ↗

A review of statistical methods for testing genetic anticipation: looking for an answer in Lynch syndrome.Semantic proximity Read ↗

Genetic anticipation in BRCA1/BRCA2 families after controlling for ascertainment bias and cohort effect.Semantic proximity Read ↗

Bayesian modeling for genetic anticipation in presence of mutational heterogeneity: a case study in Lynch syndrome.Semantic proximity Read ↗

Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension.Semantic proximity Read ↗

Ascertainment bias causes false signal of anticipation in genetic prion disease.Semantic proximity Read ↗

Clinical Evidence of Disease Anticipation in Families Segregating a <i>C9orf72</i> Repeat ExpansionSemantic proximity Read ↗

Genetic Anticipation and Abnormal Gender Ratio at Birth in Familial Primary Pulmonary HypertensionSemantic proximity Read ↗

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.Semantic proximity Read ↗

Variation in age at ESRD in autosomal dominant polycystic kidney disease.Semantic proximity Read ↗

Genetic survival analysis of age-at-onset of bipolar disorder: evidence for anticipation or cohort effect in families.Semantic proximity Read ↗

Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years.Semantic proximity Read ↗

Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.Semantic proximity Read ↗

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