Associated Papers
Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity.
Khan A et al.
American Journal of Medical Genetics. Part A, 2026
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s003.xlsx › FBN1_sensu_stricto
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.
Li J et al.
Science China. Life Sciences, 2019
Marfan syndrome with a homozygous FBN1 splicing mutation.
Lu XX et al.
American Journal of Medical Genetics. Part A, 2017
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
Arnaud P et al.
Journal of Medical Genetics, 2017
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
Sakai LY et al.
Gene, 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
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
Hogue J et al.
Clinical Genetics, 2013
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
de Vries BB et al.
European Journal of Human Genetics : Ejhg, 2007
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
Robinson PN et al.
Human Mutation, 2002
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
Körkkö J et al.
Journal of Medical Genetics, 2002
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C et al.
Human Mutation, 1997
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
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
Karttunen L et al.
American Journal of Human Genetics, 1994
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