Publications:

A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.

Biomed Research International

Giusti, Betti B; Nistri, Stefano S; Sticchi, Elena E; De Cario, Rosina R; Abbate, Rosanna R; Gensini, Gian Franco GF; Pepe, Guglielmina G

Publication Date: 2016

Variant appearance in text: FBN1: 1906A>G; Arg636Gly

PubMed Link: 27314043

Variant Present in the following documents:

• Main text
• BMRI2016-9579654.pdf

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Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome.

Bmc Medical Genetics

Pepe, Guglielmina G; Nistri, Stefano S; Giusti, Betti B; Sticchi, Elena E; Attanasio, Monica M; Porciani, Cristina C; Abbate, Rosanna R; Bonow, Robert O RO; Yacoub, Magdi M; Gensini, Gian Franco GF

Publication Date: 2014-02-24

Variant appearance in text: FBN1: 1906A>G; Arg636Gly

PubMed Link: 24564502

Variant Present in the following documents:

• Main text
• 1471-2350-15-23.pdf

View BVdb publication page