Associated Papers
Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.
Choi K et al.
Scientific Reports, 2025
40102521 (PubMed )
Supplement: 41598_2025_93832_MOESM1_ESM.xlsx › Assessment_of_our_criteria
Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.
Taniguchi Y et al.
Journal of Medical Genetics, 2023
34916231 (PubMed )
Supplement: jmedgenet-2021-108186supp001.pdf
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
Baudhuin LM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
Sakai H et al.
Human Genetics, 2012
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