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

Evidence of genetic locus heterogeneity for familial bicuspid aortic valve.

The Journal of surgical research - 1 Sept 2007

Ellison Jay W, Yagubyan Marineh, Majumdar Ramanath, Sarkar Gobinda, Bolander Mark E, Atkinson Elizabeth J, Sarano Maurice E, Sundt Thoralf M

Abstract excerpt

OBJECTIVE: We sought to determine if the gene responsible for bicuspid aortic valve (BAV) in an extended family corresponds to previously reported loci for inherited forms of the disorder. BACKGROUND: Loci at 15q25.1-26 and 9q34 have been reported to be associated with cardiovascular abnormalities involving BAV. METHODS: Linkage analysis was performed on DNA collected from a large multigenerational family in...

Read the complete abstract on PubMed

Topics

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

Share to Aortic Valve
Share to Cardiovascular Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 15

Share to Genetic Heterogeneity

Share to Genetic Linkage

Share to Microsatellite Repeats

Share to Mitral Valve

Share to Receptor, Notch1

Source

Identifiers

PMID: 17716607
DOI: 10.1016/j.jss.2006.04.040

Genes

NOTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence of genetic locus heterogeneity for familial bicuspid aortic valve.PMID 17716607Read ↗

Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations.Semantic proximity Read ↗

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.Semantic proximity Read ↗

A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity.Semantic proximity Read ↗

Whole exome sequencing for familial bicuspid aortic valve identifies putative variants.Semantic proximity Read ↗

Bicuspid aortic valve is heritable.Semantic proximity Read ↗

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.Semantic proximity Read ↗

Risk factors for aortic valve disease in bicuspid aortic valve: A family‐based studySemantic proximity Read ↗

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.Semantic proximity Read ↗

Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.Semantic proximity Read ↗

Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve.Semantic proximity Read ↗

Is Bicuspid Aortic Valve Morphology Genetically Determined? A Family-Based Study.Semantic proximity Read ↗

Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.Semantic proximity Read ↗

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