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
The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.
Seo GH et al.
Medicine, 2018
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
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
Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.
Chao SC et al.
Clinical Genetics, 2010
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C et al.
European Journal of Human Genetics : Ejhg, 2009
Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1.
Smallridge RS et al.
The Journal of Biological Chemistry, 2003
Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.
Mátyás G et al.
Human Mutation, 2002
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