Molecular Screening of Keratoconus Susceptibility Sequence Variants inVSX1, TGFBI, DOCK9, STK24, andIPO5Genes in Polish Patients and NovelTGFBIVariant Identification

Polymorphisms of the Homologous Recombination GeneRAD51in Keratoconus and Fuchs Endothelial Corneal Dystrophy

(2013) Ewelina Synowiec et al.   DISEASE MARKERS

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

(2013) Yi Lu et al.   NATURE GENETICS

Common Single Nucleotide Polymorphisms and Keratoconus in the Han Chinese Population

(2013) Yani Wang et al.   OPHTHALMIC GENETICS

VSX1 Gene and Keratoconus

(2012) Jin Wook Jeoung et al.   CORNEA

The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population

(2012) Tao Guan et al.   GENE

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

(2011) Jill A. Rosenfeld et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus

(2011) Marta Czugala et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Absence of Pathogenic Mutations in VSX1 and SOD1 Genes in Patients With Keratoconus

(2010) Mirna Štabuc-Šilih et al.   CORNEA

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Mechanisms of Rubbing-Related Corneal Trauma in Keratoconus

(2009) Charles W McMonnies   CORNEA

Mutational screening of VSX1 in keratoconus patients from the European population

(2009) D P Dash et al.   EYE

Human genetic variation recognizes functional elements in noncoding sequence

(2009) D. Lomelin et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

VSX1 gene variants are associated with keratoconus in unrelated Korean patients

(2008) Jee-Won Mok et al.   JOURNAL OF HUMAN GENETICS

The D144E Substitution in theVSX1Gene: A Non-pathogenic Variant or a Disease Causing Mutation?

(2008) Pras Eran et al.   OPHTHALMIC GENETICS

Focus on molecules: Transforming growth factor beta induced protein (TGFBIp)

(2007) Kasper Runager et al.   EXPERIMENTAL EYE RESEARCH