Associated Papers
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Jensen SA et al.
Plos One, 2021
Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes.
Phokaew C et al.
European Journal of Medical Genetics, 2020
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Peng Q et al.
Bmc Pediatrics, 2016
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.
Stheneur C et al.
Pediatric Research, 2011
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
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G et al.
Human Mutation, 2003
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F et al.
European Journal of Human Genetics : Ejhg, 2001
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
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
Collod-Béroud G et al.
Nucleic Acids Research, 1997
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C et al.
Human Mutation, 1997
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
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