PathogenicFBN1variants in familial thoracic aortic aneurysms and dissections-Reference-Cited by-同舟云学术

PathogenicFBN1variants in familial thoracic aortic aneurysms and dissections

Published:2016-01-20 Issue:6 Volume:89 Page:719-723
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Regalado E.S.¹,Guo D.C.¹,Santos-Cortez R.L.P.²,Hostetler E.¹,Bensend T.A.¹,Pannu H.¹,Estrera A.³,Safi H.³,Mitchell A.L.⁴,Evans J.P.⁵,Leal S.M.²,Bamshad M.⁶,Shendure J.⁶,Nickerson D.A.⁶,Milewicz D.M.¹,

Affiliation:

1. Division of Medical Genetics, Department of Internal Medicine; University of Texas Health Science Center at Houston (UTHealth); Houston TX USA

2. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston TX USA

3. Department of Cardiothoracic and Vascular Surgery; University of Texas Health Science Center at Houston; Houston TX USA

4. Department of Genetics and Genome Sciences; University Hospitals of Cleveland; Cleveland OH USA

5. Department of Genetics; University of North Carolina at Chapel Hill; Chapel Hill NC USA

6. Department of Genome Sciences; University of Washington; Seattle WA USA

Funder

National Institutes of Health

John Ritter Foundation

Vivian L. Smith Foundation

Richard T. Pisani Fund

National Human Genome Research Institute

National Heart, Lung and Blood Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene;Dietz;Nature,1991

2. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts;Milewicz;J Clin Invest,1992

3. The Marfan syndrome;Pyeritz;Annu Rev Med,2000

4. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms;Milewicz;Circulation,1996

5. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene as a risk factor for ascending aortic-aneurysm and dissection;Francke;Am J Hum Genet,1995

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