Associated Papers
ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.
Temel SG et al.
International Journal of Molecular Sciences, 2026
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
Identification of Novel and Recurrent FBN1 Gene Mutations in Two Unrelated Turkish Families with Isolated Ectopia Lentis: A Case Report with Insights from a Literature Review.
Heidargholizadeh GS et al.
Molecular Syndromology, 2025
Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.
Shu QM et al.
Human Genomics, 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
Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.
Han D et al.
Molecular Genetics & Genomic Medicine, 2024
Genotype Impacts Axial Length Growth in Pseudophakic Eyes of Marfan Syndrome.
Chen ZX et al.
Investigative Ophthalmology & Visual Science, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 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
Molecular Profiling of Tumor Tissue in Mexican Patients with Colorectal Cancer.
Flores-López BA et al.
Current Issues in Molecular Biology, 2022
Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome.
Postma JK et al.
American Journal of Medical Genetics. Part A, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.
Vatti L et al.
American Journal of Medical Genetics. Part A, 2017
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.
Yang G et al.
Molecular Vision, 2012
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P et al.
Human Mutation, 2007
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory.
Howarth R et al.
Genetic Testing, 2007