Associated Papers
Genetic Therapy of Fuchs Endothelial Corneal Dystrophy: Where Are We? A Review.
Stunf Pukl S
Genes, 2025
Genome-wide association study of Fuchs' endothelial corneal dystrophy in the German population.
Fechner J et al.
Human Genetics, 2025
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Update on the genetics of corneal endothelial dystrophies.
Kannabiran C et al.
Indian Journal of Ophthalmology, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Mutational spectrum of Korean patients with corneal dystrophy.
Chae H et al.
Clinical Genetics, 2016
Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.
Tang H et al.
International Journal of Molecular Medicine, 2016
Genetics of the corneal endothelial dystrophies: an evidence-based review.
Aldave AJ et al.
Clinical Genetics, 2013
Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.
Minear MA et al.
Molecular Vision, 2013
Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.
Igo RP et al.
Plos One, 2012
Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.
Desronvil T et al.
Molecular Vision, 2010
Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.
Hemadevi B et al.
Bmc Ophthalmology, 2010
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.
Mok JW et al.
Eye (london, England), 2009
Genome-wide linkage scan in fuchs endothelial corneal dystrophy.
Afshari NA et al.
Investigative Ophthalmology & Visual Science, 2009
Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy.
Mehta JS et al.
Investigative Ophthalmology & Visual Science, 2008
Genetics of corneal dystrophies: the evolving landscape.
Pieramici SF et al.
Current Opinion in Ophthalmology, 2006
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.
Gottsch JD et al.
Investigative Ophthalmology & Visual Science, 2005
Molecular genetics of cataract.
Kannabiran C et al.
Indian Journal of Ophthalmology, 2000
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.
Kobayashi A et al.
Japanese Journal of Ophthalmology, 0