Associated Papers
Genetics of Keratoconus: A Comprehensive Review.
Barcelo-Canton RH et al.
Genes, 2025
Clinical and genetic analysis VSX1 variants among families with keratoconus in northwest China.
Zhang J et al.
Frontiers in Genetics, 2023
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY et al.
Human Mutation, 2022
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Genetic and Environmental Risk Factors for Keratoconus.
Lucas SEM et al.
Annual Review of Vision Science, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
[Search for genetic markers for precise diagnostics of keratoconus].
Skorodumova LO et al.
Biomeditsinskaia Khimiia, 2019
Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease.
Litke AM et al.
Investigative Ophthalmology & Visual Science, 2018
Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.
Loukovitis E et al.
Ophthalmology and Therapy, 2018
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
Lucas SEM et al.
Plos One, 2018
Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus.
Bardak H et al.
Genetics and Molecular Research : Gmr, 2016
Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.
Karolak JA et al.
Ophthalmic Genetics, 2016
Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.
Shetty R et al.
Bmc Medical Genetics, 2015
Polymorphism Analysis of VSX1 and SOD1 Genes in Greek Patients with Keratoconus.
Moschos MM et al.
Ophthalmic Genetics, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Genetics of keratoconus: where do we stand?
Abu-Amero KK et al.
Journal of Ophthalmology, 2014
Common single nucleotide polymorphisms and keratoconus in the Han Chinese population.
Wang Y et al.
Ophthalmic Genetics, 2013
Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.
Verma A et al.
Bmc Research Notes, 2013
Study of VSX1 mutations in patients with keratoconus in southwest Iran using PCR-single-strand conformation polymorphism/heteroduplex analysis and sequencing method.
Dehkordi FA et al.
Acta Cytologica, 2013
VSX1 gene and keratoconus: genetic analysis in Korean patients.
Jeoung JW et al.
Cornea, 2012
The Genetics of Keratoconus: A Review.
Wheeler J et al.
Reproductive System & Sexual Disorders : Current Research, 2012
Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia.
Abu-Amero KK et al.
Molecular Vision, 2011
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
De Bonis P et al.
Molecular Vision, 2011
Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus.
Saee-Rad S et al.
Molecular Vision, 2011
Mutational screening of VSX1 in keratoconus patients from the European population.
Dash DP et al.
Eye (london, England), 2010
Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.
Tang YG et al.
Cornea, 2008
Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes.
Hosseini SM et al.
Molecular Vision, 2008
VSX1 gene variants are associated with keratoconus in unrelated Korean patients.
Mok JW et al.
Journal of Human Genetics, 2008
Molecular analysis of the VSX1 gene in familial keratoconus.
Liskova P et al.
Molecular Vision, 2007
Genetics of corneal dystrophies: the evolving landscape.
Pieramici SF et al.
Current Opinion in Ophthalmology, 2006
No VSX1 gene mutations associated with keratoconus.
Aldave AJ et al.
Investigative Ophthalmology & Visual Science, 2006
Candidate gene screening for posterior polymorphous dystrophy.
Aldave AJ et al.
Cornea, 2005
VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.
Bisceglia L et al.
Investigative Ophthalmology & Visual Science, 2005
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
Mintz-Hittner HA et al.
Ophthalmology, 2004
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
Héon E et al.
Human Molecular Genetics, 2002
Congenital corneal opacities: a review with a focus on genetics.
Ciralsky J et al.
Seminars in Ophthalmology, 0
Analysis of VSX1 Variations in Brazilian Subjects with Keratoconus.
da Silva DC et al.
Journal of Ophthalmic & Vision Research, 0