✦ LIBER ✦

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects

✍ Scribed by Disabella, Eliana; Grasso, Maurizia; Marziliano, Nicola; Ansaldi, Silvia; Lucchelli, Claudia; Porcu, Emanuele; Tagliani, Marilena; Pilotto, Andrea; Diegoli, Marta; Lanzarini, Luca; Malattia, Clara; Pelliccia, Antonio; Ficcadenti, Anna; Gabrielli, Orazio; Arbustini, Eloisa

Book ID: 110026406
Publisher: Nature Publishing Group
Year: 2005
Tongue: English
Weight: 178 KB
Volume: 14
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5201502

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of novel FBN1 and TGFBR2

Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes

✍ Brian Hon-Yin Chung; Stephen Tak-Sum Lam; Tony Ming-For Tong; Susanna Yuk-Han Li 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 282 KB 👁 2 views

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 👁 2 views

Marfan syndrome with neonatal progeroid

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1-gene

✍ Luitgard M. Graul-Neumann; Tina Kienitz; Peter N. Robinson; Sevjidmaa Baasanjav; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 2 views

## Abstract We report on a 25‐year‐old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe

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 👁 3 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

Identification of sixty-two novel and tw

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies

✍ Eloisa Arbustini; Maurizia Grasso; Silvia Ansaldi; Clara Malattia; Andrea Pilott 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 321 KB 👁 1 views

## Communicated by Mireille Claustres Marfan Syndrome (MFS) is an autosomal dominant disorder of the connective tissue due to mutations of Fibrillin-1 gene (FBN1) in more than 90% of cases and Transforming Growth Factor-Beta-Receptor2 gene (TGFB2R) in a minority of cases. Genotyping is relevant fo

Evaluation and application of denaturing

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

✍ Gábor Mátyás; Anne De Paepe; Dorothy Halliday; Catherine Boileau; Gerard Pals; B 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 571 KB

## Communicated by Darwin Prockop Mutations in the human fibrillin 1 gene (FBN1) cause the Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Knowledge about FBN1 mutations is important for early diagnosis, management, and genetic counseling. However, mutation detection in FB