✦ LIBER ✦

Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene

✍ Scribed by Christopher P. Barnett; Gregory J. Wilson; David A. Chiasson; Gil J. Gross; Aleksander Hinek; Cynthia Hawkins; David Chitayat

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 192 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33406

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel mutation in the neonatal region

A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS)

✍ Ulrich Grau; Hanns-Georg Klein; Christian Detter; Helmut Mair; Armin Welz; Dietr 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB 👁 2 views

Marfan Syndrome (MfS) is an autosomal dominant inherited connective tissue disorder with variable phenotypic expression of cardiovascular, skeletal and ocular manifestations. Cardiovascular complications, such as aortic aneurysm and dissection drastically reduce life expectancy of individuals with M

Mutation screening of all 65 exons of th

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

✍ Caroline Hayward; Mary E. Porteous; David J. H. Brock 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 261 KB 👁 1 views

Mutations in the fibrillin-1 gene on chromosome 15q21.1 have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndr

Eight novel mutations of the FBN1 gene f

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome

✍ Ritsu Matsukawa; Kazuki Iida; Masako Nakayama; Tsunehiro Mukai; Yutaka Okita; Mo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 1 views

Enzymatic mutation detection (EMD™) of n

Enzymatic mutation detection (EMD™) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII

✍ Rima Youil; Timothy J. Toner; Evelyn Bull; Anne L. Bailey; Christopher D. Earl; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB