Results 211 to 220 of about 10,344 (220)

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

Human Mutation, 2002
Seval Turkmen, 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

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome

Human Mutation, 2005
Axel Haverich, Yskert Von Kodolitsch, Meike Rybczynski   +2 more
exaly  

Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg

Congenital Anomalies, 2017
Arda Cetinkaya, Ali Karaman, Mehmet Burak Mutlu, Taner Yavuz   +3 more
openaire   +2 more sources

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

1996
Arthur B Zinn, Peter H Byers, Dianna M Milewicz   +2 more
exaly  

FBN1 mutation affects survival in Marfan syndrome

Nature Reviews Cardiology, 2016
openaire   +1 more source

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   +1 more source

ADAMTS10, ADAMTS17, and FBN1: The Weill-Marchesani Syndrome

2016
Carine Le Goff, Valérie Cormier-Daire
openaire   +1 more source

Gene symbol: FBN1. Disease: Marfan syndrome.

Human genetics, 2003
P, Comeglio, A L, Evans, G W, Brice, B M, Anderlid, A H, Child   +4 more
openaire   +1 more source

Gene symbol: FBN1. Disease: Marfan syndrome.

Human genetics, 2008
Xi-jun, Chen, Yan-an, Wu, Fa-wen, Chen, Fa-lin, Chen, Yi, Huang, Xiao-li, Huang, Xiao-ling, Ma, Tong, Chen   +7 more
openaire   +1 more source