Jana Moravíková
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View article: Comprehensive phenotypic and functional analysis of dominant and recessive<i>FOXE3</i>alleles in ocular developmental disorders
Comprehensive phenotypic and functional analysis of dominant and recessive<i>FOXE3</i>alleles in ocular developmental disorders Open
The forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the full range of phenotypes and mechanisms of action for the two classes of variants are un…
View article: Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants
Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants Open
The aim of this study was to report PAX6 disease-causing variants in six Czech families, to describe the associated phenotypes, and to perform functional assessment of the splice site variants. Detailed ophthalmic examination was performed…
View article: Molecular Genetic Cause of Achromatopsia in Two Patients of Czech Origin
Molecular Genetic Cause of Achromatopsia in Two Patients of Czech Origin Open
Introduction: Achromatopsia is an autosomal recessive retinal disorder with an estimated prevalence ranging from 1 in 30.000 to 50.000. The disease is caused by mutations in six different genes. The aim of the study was to perform molecula…