Associated Papers
Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.
van der Leest EC et al.
Clinical Genetics, 2025
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
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
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.
Dong J et al.
Molecular Vision, 2012
Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain.
Mellody KT et al.
The Journal of Biological Chemistry, 2006
Ca2+-dependent interface formation in fibrillin-1.
Jensen SA et al.
The Journal of Biological Chemistry, 2005
Marfan syndrome: orthopedic and genetic review.
Giampietro PF et al.
Current Opinion in Pediatrics, 2002
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
Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils.
Yuan X et al.
The Embo Journal, 1997
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
Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
Adès LC et al.
Journal of Medical Genetics, 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
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