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
A comprehensive molecular genetic analysis of keratoconus patients from assam, a northeastern state of India.
Chakravarty M et al.
European Journal of Ophthalmology, 2022
Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.
Markitantova Y et al.
International Journal of Molecular Sciences, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
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
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
Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci.
Nowak DM et al.
Plos One, 2015
Genetics of keratoconus: where do we stand?
Abu-Amero KK et al.
Journal of Ophthalmology, 2014
Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.
Verma A et al.
Bmc Research Notes, 2013
Insights into keratoconus from a genetic perspective.
Burdon KP et al.
Clinical & Experimental Optometry, 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
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
Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus.
Stabuc-Silih M et al.
Cornea, 2010
Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.
Tang YG et al.
Cornea, 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
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
Liskova P et al.
Human Mutation, 2007
No VSX1 gene mutations associated with keratoconus.
Aldave AJ et al.
Investigative Ophthalmology & Visual Science, 2006
H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.
Valleix S et al.
Investigative Ophthalmology & Visual Science, 2006
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