Associated Papers
Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.
Bai Y et al.
Orphanet Journal of Rare Diseases, 2024
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
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
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
Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online.
Perez AB et al.
Human Mutation, 1999
Select a paper to view details