𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations

✍ Scribed by B Söylen; KK Singh; A Abuzainin; K Rommel; H Becker; M Arslan-Kirchner; J Schmidtke


Book ID
110888730
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
91 KB
Volume
75
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


TGFBR1 and TGFBR2 mutations in patients
✍ Krishna Kumar Singh; Kathrin Rommel; Anjali Mishra; Matthias Karck; Axel Haveric 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 192 KB 👁 1 views

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder characterized by manifestations in the cardiovascular, skeletal, ocular, and other organ systems. MFS type1 (MFS1) is caused by mutations in the gene encoding fibrillin (FBN1). Recently, the transforming growth factor-beta rec

Mutation screening of the fibrillin-1 (F
✍ Kathrin Rommel; Matthias Karck; Axel Haverich; Jörg Schmidtke; Mine Arslan-Kirch 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB

Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes. We report 7 missense mutations, 3

Identification of 23 TGFBR2 and 6 TGFBR1
✍ Chantal Stheneur; Gwenaëlle Collod-Béroud; Laurence Faivre; Laurent Gouya; Gille 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 421 KB 👁 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