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

Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.

American journal of medical genetics. Part A - 1 Mar 2006

Bayrak-Toydemir Pinar, McDonald Jamie, Markewitz Boaz, Lewin Susan, Miller Franklin, Chou Lan-Szu, Gedge Friederike, Tang Wei, Coon Hillary, Mao Rong

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is a genetically heterogeneous vascular dysplasia with multiple telangiectases and arteriovenous malformations and it is caused by mutations in endoglin gene (ENG) (HHT1) and activin A receptor type II-like 1 gene (ACVRL1) (HHT2). We evaluated 111 patients with HHT from 34 families by history, examination, screening for vascular malformations, and sequencing of both...

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 Anemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Central Nervous System Diseases

Share to Endoglin

Share to Gastrointestinal Hemorrhage

Share to Lung Diseases

Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 16470787
DOI: 10.1002/ajmg.a.31101

Genes

ENG
ACVRL1

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

Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.PMID 16470787Read ↗

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.Semantic proximity Read ↗

Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.Semantic proximity Read ↗

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.Semantic proximity Read ↗

Hereditary haemorrhagic telangiectasia: a clinical and scientific review.Semantic proximity Read ↗

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

[Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family].Semantic proximity Read ↗

Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures.Semantic proximity Read ↗

Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway.Semantic proximity Read ↗

Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.Semantic proximity Read ↗

Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

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