Associated Papers
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Faivre L et al.
European Journal of Human Genetics : Ejhg, 2009
A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations.
Baumgartner C et al.
Journal of Biomedical Informatics, 2006
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G et al.
Human Mutation, 2003
Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.
Smallridge RS et al.
The Journal of Biological Chemistry, 2003
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
Loeys B et al.
Human Molecular Genetics, 2002
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.
Katzke S et al.
Human Mutation, 2002
Marfan syndrome: orthopedic and genetic review.
Giampietro PF et al.
Current Opinion in Pediatrics, 2002
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome.
Reinhardt DP et al.
The Journal of Biological Chemistry, 2000
Novel exon skipping mutation in the fibrillin-1 gene: two 'hot spots' for the neonatal Marfan syndrome.
Booms P et al.
Clinical Genetics, 1999
Marfan Database (third edition): new mutations and new routines for the software.
Collod-Béroud G et al.
Nucleic Acids Research, 1998
Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.
Black C et al.
Human Mutation, 1998
Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.
Wang M et al.
Human Mutation, 1997
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
Hayward C et al.
Human Mutation, 1997
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders.
Downing AK et al.
Cell, 1996
An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.
Karttunen L et al.
Genome Research, 1996
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.
Putnam EA et al.
American Journal of Medical Genetics, 1996
Software and database for the analysis of mutations in the human FBN1 gene.
Collod G et al.
Nucleic Acids Research, 1996
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
Nijbroek G et al.
American Journal of Human Genetics, 1995
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.
Tynan K et al.
Human Molecular Genetics, 1993
Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.
Zeyer KA et al.
Mutation Research. Reviews in Mutation Research, 0