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
Intrinsic cardiomyopathy in pediatric Marfan syndrome: predictive factors and risk assessments.
Kneußel J et al.
Pediatric Research, 2025
Corneal Biomechanics Are Associated With FBN1 Mutations in Patients With Marfan Syndrome and Ectopia Lentis.
Huo QY et al.
Investigative Ophthalmology & Visual Science, 2025
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.
Klemenzdottir EO et al.
European Journal of Human Genetics : Ejhg, 2024
Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.
Chen ZX et al.
Investigative Ophthalmology & Visual Science, 2023
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
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Lauffer P et al.
American Journal of Medical Genetics. Part A, 2023
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.
Li Y et al.
American Journal of Translational Research, 2021
Genotype-Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care.
Stark VC et al.
Genes, 2020
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
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome.
Hung CC et al.
Annals of Human Genetics, 2009
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Faivre L et al.
European Journal of Human Genetics : Ejhg, 2009
The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome.
Rybczynski M et al.
American Journal of Medical Genetics. Part A, 2008
Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.
Deng T et al.
Molecular Vision, 2008
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007