Ivan Šebesta

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

Blanka Stibůrková, Ivan Šebesta, Kimiyoshi Ichida et al. · European Journal of Human Genetics · 2013 · 58 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity

Blanka Stibůrková, Jacek Majewski, Ivan Šebesta et al. · The American Journal of Human Genetics · 2000 · 57 citations · Full text

Medicine, Genetics, Molecular Genetics +9

Acute kidney injury in two children caused by renal hypouricaemia type 2

Blanka Stibůrková, Judy Taylor, Anthony M. Marinaki et al. · Pediatric Nephrology · 2012 · 56 citations

Medicine, Nephrology, Pediatrics +8

Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2

Andrea Mančíková, Vladimír Krylov, Olha Hurba et al. · Clinical and Experimental Nephrology · 2015 · 55 citations

Medicine, Genetics, Molecular Genetics +10

Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

Blanka Stibůrková, Kimiyoshi Ichida, Ivan Šebesta · Molecular Genetics and Metabolism · 2011 · 54 citations

Medicine, Genetics, Molecular Genetics +8