Associated Papers
Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.
Piai CB et al.
American Journal of Medical Genetics. Part A, 2025
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 › FBN1
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
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
Stengl R et al.
Orphanet Journal of Rare Diseases, 2020
33059708 (PubMed )
Supplement: 13023_2020_1569_MOESM1_ESM.pdf
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_lato
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.
Mannucci L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.
Turner CL et al.
American Journal of Medical Genetics. Part A, 2009
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