Analysis ofTGFBR1*6Avariant in individuals evaluated for Marfan syndrome-Reference-Cited by-同舟云学术

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Analysis ofTGFBR1*6Avariant in individuals evaluated for Marfan syndrome

Published:2016-04-26 Issue:7 Volume:170 Page:1786-1790
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Somers Allyson E.¹,Hinton Robert B.¹²,Pilipenko Valentina³,Miller Erin¹²,Ware Stephanie M.⁴

Affiliation:

1. University of Cincinnati College of Medicine; Cincinnati Ohio

2. Division of Cardiology; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

3. Division of Human Genetics; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

4. Indiana University School of Medicine; Indianapolis Indiana

Funder

American College of Medical Genetics

Indiana University Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy;Biggin;Hum Mutat,2004

2. Regulation of TGFbeta and related signals by precursor processing;Constam;Semin Cell Dev Biol,2014

3. Clinical, diagnostic, and therapeutic aspects of the Marfan syndrome;Cook;Adv Exp Med Biol,2014

4. Structure and function of the mammalian fibrillin gene family: Implications for human connective tissue diseases;Davis;Mol Genet Metab,2012

5. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders;Dietz;Hum Mol Genet,1995

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular and genetic basis of variability in clinical manifestations of Marfan syndrome;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2023-04-27

2. The Molecular Genetics of Marfan Syndrome;International Journal of Medical Sciences;2021

3. Accelerated Marfan syndrome model recapitulates established signaling pathways;The Journal of Thoracic and Cardiovascular Surgery;2020-05

4. Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome;Journal of Vascular Surgery;2018-07

5. Vertebral Tortuosity Index in Patients with Non-Connective Tissue Disorder-Related Aneurysm Disease;European Journal of Vascular and Endovascular Surgery;2017-03

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