𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes

✍ Scribed by Cook, J.R.; Carta, L.; Galatioto, J.; Ramirez, F.

Book ID
123620235
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
473 KB
Volume
87
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Comprehensive genetic analysis of releva
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes
✍ Haruya Sakai; Remco Visser; Shiro Ikegawa; Etsuro Ito; Hironao Numabe; Yoriko Wa πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 170 KB

## Abstract In order to evaluate the contribution of __FBN1, FBN2, TGFBR1__, and __TGFBR2__ mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. A total of 27 __FBN1__ mutations (22 novel) in

Identification of 23 TGFBR2 and 6 TGFBR1
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders
✍ Chantal Stheneur; GwenaΓ«lle Collod-BΓ©roud; Laurence Faivre; Laurent Gouya; Gille πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 421 KB πŸ‘ 1 views

TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection. In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected