Results 151 to 160 of about 9,183 (184)

Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies

The Indian Journal of Pediatrics, 2009
The first case of an infant with a dual genetic diagnosis of CHARGE and Marfan syndrome is reported here. The patient had multiple congenital anamolies, many of them consistent with CHARGE syndrome and genetic testing identified a heterozygous mutation c.3806_11del6insA in the CHD7 gene.
Chia-Hua, Chiu, Joseph, Thakuria, Pankaj B, Agrawal   +2 more
openaire   +2 more sources

[Analysis of FBN1 genemutations in a pedigree with Marfan syndrome].

Zhonghua yi xue za zhi, 2022
Mutations in fibrillin-1 (FBN1) were detected in an autosomal dominant Marfan syndrome (MFS) pedigree. The related phenotypes and the significance of mutation screening were discussed. Complete medical and cardiovascular examinations for all pedigree members were performed.
Q, Zheng, K L, Li, G L, Dai, D, Xiong, M Y, Yao, X, Chen, Y M, Li, Y Y, Zhang, H R, Li, Y, Cao   +9 more
openaire   +1 more source

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

FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review

Genes, 2022
Zongzhe Li, James Jiqi Wang, Xiuli Song   +2 more
exaly  

Myocardial crypts in FBN1-positive Marfan syndrome

Revista Española de Cardiología (English Edition)
Ronan, Mirabello, Jocelyn, Domagne, Luis, Ferreira Nunes, Laurent, Chaussavoine, Michèle, Hamon, Fabien, Labombarda   +5 more
openaire   +2 more sources

Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database

Human Mutation, 2003
Catherine Boileau, Peter N Robinson, Gabor Matyas   +2 more
exaly  

Comprehensive molecular screening of theFBN1gene favors locus homogeneity of classical Marfan syndrome

Human Mutation, 2004
Paul Coucke, Julie De Backer, Bart Loeys   +2 more
exaly