Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study
Top Cited Papers
- 30 September 2007
- journal article
- research article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 81 (3), 454-466
- https://doi.org/10.1086/520125
Abstract
No abstract availableKeywords
This publication has 48 references indexed in Scilit:
- Fibrillin-1 regulates the bioavailability of TGFβ1The Journal of cell biology, 2007
- UMD (Universal Mutation Database): 2005 updateHuman Mutation, 2005
- Detection of thirty novelFBN1mutations in patients with Marfan syndrome or a related fibrillinopathyHuman Mutation, 2003
- Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathiesHuman Mutation, 2002
- Novel exon skipping mutation in the fibrillin‐1 gene: Two ‘hot spots’ for the neonatal Marfan syndromeClinical Genetics, 1999
- Delineation of the Marfan phenotype associated with mutations in exons 23–32 of theFBN1 geneAmerican Journal of Medical Genetics, 1996
- A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.JCI Insight, 1995
- Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.JCI Insight, 1995
- Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan SyndromeGenomics, 1993
- Nonparametric Estimation from Incomplete ObservationsJournal of the American Statistical Association, 1958