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
Genetic and Environmental Risk Factors for Keratoconus.
Lucas SEM et al.
Annual Review of Vision Science, 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
Macular Corneal Dystrophy and Posterior Corneal Abnormalities.
Rubinstein Y et al.
Cornea, 2016
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
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
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
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.
Pras E et al.
Molecular Vision, 2012
High-resolution analysis of DNA copy number alterations in patients with isolated sporadic keratoconus.
Abu-Amero KK et al.
Molecular Vision, 2011
Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia.
Abu-Amero KK et al.
Molecular Vision, 2011
Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus.
Paliwal P 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
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.
Pras E et al.
Molecular Vision, 2009
The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?
Eran P et al.
Ophthalmic Genetics, 2008
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
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 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran.
Nejabat M et al.
Journal of Ophthalmic & Vision Research, 0