Results 191 to 200 of about 10,344 (220)

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

An Rsa\ polymorphism for the fibrillin gene (FBN1)

Human Molecular Genetics, 1994
C M, Black, A P, Withers, M, Boxer
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

Gene symbol: FBN1.

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

Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events

Genetics in Medicine, 2015
Linnea M Baudhuin, Baudhuin Linnea M
exaly  

Linkage mapping of FBN1 to bovine chromosome 10

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

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in theFBN1gene

Human Mutation, 2002
Gabor Matyas, Catherine Boileau, Gérard Pals   +2 more
exaly  

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

Human Mutation, 2005
Maurizia Grasso, Clara Malattia, Savina Mannarino   +2 more
exaly  

Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection

Molecular Genetics & Genomic Medicine, 2020
Shijun Xu, Hairui Sun, Junming Zhu
exaly  

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193FBN1 mutations

Human Mutation, 2007
Paolo Comeglio, Gavin Arno, Anne Child   +2 more
exaly