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Article

Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.

The Journal of thoracic and cardiovascular surgery - 1 Aug 2007

McKellar Stephen H, Tester David J, Yagubyan Marineh, Majumdar Ramanath, Ackerman Michael J, Sundt Thoralf M

Abstract excerpt

OBJECTIVES: Bicuspid aortic valve is a common condition and is associated with a significantly increased risk of developing thoracic aortic aneurysms and acute aortic dissection. Patient-specific prediction of the risk of developing thoracic aortic aneurysm, however, is imprecise. We hypothesize that genotypic variations in patients with bicuspid aortic valves contribute to this observed variability in aortic...

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Topics

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Share to Aorta, Thoracic
Share to Aortic Aneurysm, Thoracic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Aortic Valve

Share to DNA Mutational Analysis

Share to Mutation, Missense

Share to Polymerase Chain Reaction

Share to Receptor, Notch1

Source

Identifiers

PMID: 17662764
DOI: 10.1016/j.jtcvs.2007.02.041

Genes

NOTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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