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
41331757 (PubMed )
Supplement: 12967_2025_7523_MOESM1_ESM.pdf
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf
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
34281902 (PubMed )
Supplement: bjophthalmol-2021-319084supp003.pdf
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
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.
Frédéric MY et al.
Human Mutation, 2009
Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.
Matsukawa R et al.
Human Mutation, 2001
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