Associated Papers
Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.
Shen X et al.
Journal of Translational Medicine, 2025
Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.
Kolambage YD et al.
Molecular Syndromology, 2025
Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome.
van der Leest EC et al.
Clinical Genetics, 2025
Case Report: FBN1 mutation screening in South African patients with Marfan syndrome.
Mhlongo F et al.
Frontiers in Genetics, 2025
Double somatic mosaicism in Marfan syndrome.
Carrera IA et al.
American Journal of Medical Genetics. Part A, 2024
Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.
Chen ZX et al.
Investigative Ophthalmology & Visual Science, 2023
Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.
Chen Z et al.
The British Journal of Ophthalmology, 2022
Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene.
Motonaga T et al.
International Heart Journal, 2022
Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review.
Stengl R et al.
Orphanet Journal of Rare Diseases, 2021
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.
Arnaud P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Nayak SS et al.
Scientific Reports, 2021
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
The Molecular Genetics of Marfan Syndrome.
Du Q et al.
International Journal of Medical Sciences, 2021
Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.
Stark VC et al.
Genes, 2020
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome.
Willis BR et al.
American Journal of Medical Genetics. Part A, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
FBN1 Coding Variants and Nonsyndromic Aortic Disease.
Damrauer SM et al.
Circulation. Genomic and Precision Medicine, 2019
A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.
Callea M et al.
Investigacion Clinica, 2017
Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.
Maeda J et al.
Heart and Vessels, 2016
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
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
Wang WJ et al.
Journal of Molecular Medicine (berlin, Germany), 2013
A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.
Dong J et al.
Molecular Vision, 2012
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
Kirschner R et al.
The Journal of Biological Chemistry, 2011
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
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
Rommel K et al.
Human Mutation, 2005
Ca2+-dependent interface formation in fibrillin-1.
Jensen SA et al.
The Journal of Biological Chemistry, 2005
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G et al.
Human Mutation, 2003
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
Robinson PN et al.
Human Mutation, 2002
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
Software and database for the analysis of mutations in the human FBN1 gene.
Collod G et al.
Nucleic Acids Research, 1996
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders.
Liu WO et al.
Genetic Testing, 0
[Hereditary multiple exostosis. Case report and differential diagnosis of enchondromatosis].
Cammarata-Scalisi F et al.
Acta Ortopedica Mexicana, 0
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
[Mutation c.3037G>A in the FBN1 gene associated with neonatal Marfan syndrome variant].
Cammarata-Scalisi F et al.
Acta Ortopedica Mexicana, 0