Publications
- Functional non-synonymous variants of ABCG2 and gout risk2017 | First Faculty of Medicine, Faculty of Physical Education and Sport
- GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes2017 | First Faculty of Medicine
- Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout2016 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis2016 | First Faculty of Medicine
- Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis2015 | First Faculty of Medicine
- Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout2014 | First Faculty of Medicine, Faculty of Science
- Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration2014 | First Faculty of Medicine
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Science
- Unusual presentation of Kelley-Seegmiller syndrome2008 | First Faculty of Medicine, Third Faculty of Medicine
- Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome2006 | First Faculty of Medicine
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