Results 171 to 180 of about 9,183 (184)

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

Marfan Syndrome (MFS, FBN1)

2012
openaire   +1 more source

FBN2,FBN1,TGFBR1, andTGFBR2 analyses in congenital contractural arachnodactyly

American Journal of Medical Genetics, Part A, 2007
Shiro Ikegawa
exaly  

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies

Human Mutation, 2002
Peter N Robinson
exaly  

Ventricular arrhythmia in patients with FBN1 gene mutations

The Thoracic and Cardiovascular Surgeon, 2014
U. Arunagirinathan, A. Aydin, B.A. Adsay, S. Sheikhzadeha, B. Keyserd, M. Rybczynskia, C. Detter, D. Steven, P.N. Robinsone, J. Berger, J. Schmidtke, S. Blankenberg, S. Willems, Y. von Kodolitsch, H. Reichenspurner, B.A. Hoffmann   +15 more
openaire   +1 more source

TGGE screening of the entireFBN1coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

Human Mutation, 2002
Peter N Robinson
exaly  

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

Molecular Genetics & Genomic Medicine, 2019
Alessandra Maugeri, Phillis Lakeman, Marjan M Weiss   +2 more
exaly  

Delineation of the Marfan phenotype associated with mutations in exons 23–32 of theFBN1 gene

1996
Peter H Byers, , Dianna Milewicz
exaly  

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing

Journal of Clinical Laboratory Analysis
Young-Gon Kim, Jong-Won Kim, Duk-Kyung Kim   +2 more
exaly