Results 201 to 210 of about 9,471 (216)

Ectopia lentis phenotypes and the FBN1 gene

American Journal of Medical Genetics Part A, 2003
AbstractMutations of the fibrillin‐1 (FBN1) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the “MASS” phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid skeletal features [Milewicz et al., 1995: J Clin Invest 95:2373–2378], familial ...
Lesley C, Adès, Katherine J, Holman, Maggie S, Brett, Matthew J, Edwards, Bruce, Bennetts   +4 more
openaire   +2 more sources

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations

Clinical Genetics, 2008
Fibrillin‐1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission. Major clinical manifestations affect cardiovascular and skeletal apparatuses and ocular and central nervous systems.
ATTANASIO, MONICA, I. Lapini, EVANGELISTI, LUCIA, LUCARINI, LAURA, GIUSTI, BETTI, PORCIANI, MARIA CRISTINA, R. Fattori, C. Anichini, ABBATE, ROSANNA, GENSINI, GIAN FRANCO, PEPE, GUGLIELMINA   +10 more
openaire   +3 more sources

The FBN1 (R2726W) mutation is not fully penetrant

Annals of Human Genetics, 2004
SummaryThe R2726W mutation in the fibrillin 1 (FBN1, Marfan syndrome) gene segregates with isolated skeletal features of Marfan syndrome and/or high stature. Here we report a family in which two out of four individuals, an 18‐year‐old son and his mother, a 41‐year‐old woman, had the R2726W mutation of FBN1.
S, Buoni, R, Zannolli, F, Macucci, S, Ansaldi, M, Grasso, E, Arbustini, A, Fois   +6 more
openaire   +2 more sources

Fibrillin-1 (FBN1) Mutations in Patients With Thoracic Aortic Aneurysms

Circulation, 1996
Background Mutations in the FBN1 gene are the cause of the Marfan syndrome, an autosomal dominant disorder with skeletal, ocular, and cardiovascular complications. Aneurysms or dissections of the ascending thoracic aorta are the major cardiovascular complications of the disorder.
D M, Milewicz, K, Michael, N, Fisher, J S, Coselli, T, Markello, A, Biddinger   +5 more
openaire   +2 more sources

Fabrillin (FBN1) mutations in Marfan syndrome

Human Mutation, 1992
C, Hayward, M, Keston, D J, Brock, H C, Dietz   +3 more
openaire   +2 more sources

An Rsa\ polymorphism for the fibrillin gene (FBN1)

Human Molecular Genetics, 1994
C M, Black, A P, Withers, M, Boxer
openaire   +2 more sources

Gene symbol: FBN1.

Human genetics, 2007
P, Balakrishnan, K, Ganesan, P R, Bhima Shankar, M, Kabra   +3 more
openaire   +3 more sources

Linkage mapping of FBN1 to bovine chromosome 10

Animal Genetics, 2003
T D, Thue, F C, Buchanan
openaire   +2 more sources

Marfan Syndrome (MFS, FBN1)

2008
openaire   +1 more source

Marfan Syndrome, FBN1-Related

Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Gen Nishimura, Valérie Cormier-Daire   +5 more
openaire   +1 more source