Results 201 to 210 of about 10,344 (220)

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

Clinical Genetics, 2008
L Lucarini, Betti Giusti, C Anichini
exaly  

An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease

Journal of Human Genetics, 2008
Dong-Chuan Guo, Prateek Gupta, Van Tran-Fadulu   +2 more
exaly  

FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression

International Journal of Cardiology, 2013
Britta Keyser, Christian Detter, Mathias Hillebrand   +2 more
exaly  

FBN1 exon 2 splicing error in a patient with Marfan syndrome

American Journal of Medical Genetics Part A, 2001
Filemon K Tan, Andrea V Cantú, Sharon E Plon   +2 more
exaly  

Marfan Syndrome (MFS, FBN1)

2008
openaire   +1 more source

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients

Human Mutation, 2010
David G Charteris, Ken K Nischal, Paolo Comeglio   +2 more
exaly  

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

Detection of thirty novelFBN1mutations in patients with Marfan syndrome or a related fibrillinopathy

Human Mutation, 2004
Andrew Biggin, Katherine Holman, Bruce Bennetts   +2 more
exaly  

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

American Journal of Medical Genetics, Part A, 2009
Gwenaelle Collod-Béroud, Bert Callewaert, A Child   +2 more
exaly