Results 161 to 170 of about 9,183 (184)

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

Clinical Genetics, 2008
Guglielmina Pepe, Betti Giusti
exaly  

Linkage mapping of FBN1 to bovine chromosome 10

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

Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome

Genetic Testing and Molecular Biomarkers, 2018
Ferda Percin, Mehmet Ali Ergun, Serdar Kula   +2 more
exaly  

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

International Journal of Cardiology, 2013
Alexander M Bernhardt, Peter N Robinson, Meike Rybczynski   +2 more
exaly  

FBN1 exon 2 splicing error in a patient with Marfan syndrome

American Journal of Medical Genetics Part A, 2001
Dianna Milewicz, Sharon Plon, F K Tan
exaly  

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

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

Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

Genes, 2020
Jakob Olfe, Thomas S Mir, Yskert Von Kodolitsch   +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
Clara Malattia, Mario Mosconi, Francesca Mari   +2 more
exaly  

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

Journal of Human Genetics, 2008
Dongchuan Guo, Dianna Milewicz, Magalie Leduc   +2 more
exaly  

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

Circulation: Cardiovascular Genetics, 2015
Alessandra Maugeri, Dimitra Micha, Romy Franken   +2 more
exaly