Lista de obras - Blanka Stiburkova - Dominio Público Uruguay

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

artículo científico publicado en 2006

Analysis of excretion fraction of uric acid

artículo científico publicado en 2006

Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout

artículo científico publicado en 2023

Changes in serum urate and urate excretion with age

artículo científico publicado en 2012

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 gout

artículo científico publicado en 2014

Diagnostic tests for primary renal hypouricemia

artículo científico publicado en 2011

Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout

artículo científico publicado en 2024

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

article

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

artículo científico publicado en 2015

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

artículo científico publicado en 2016

Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout.

artículo científico publicado en 2016

Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout

scientific article published on 8 July 2019

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease

artículo científico publicado en 2015

Hereditary renal hypouricemia: a new role for allopurinol?

artículo científico publicado en 2013

Hereditary xanthinuria is not so rare disorder of purine metabolism

artículo científico publicado en 2018

High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction

artículo científico publicado en 2015

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

artículo científico publicado en 2000

Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.

artículo científico publicado en 2014

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41

artículo científico publicado en 2005

Modern diagnostic approach to hereditary xanthinuria.

artículo científico publicado en 2014

Modified forearm ischemic test in hypouricemic patients

scientific article published on 20 April 2020

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

scientific article published on 06 February 2013

Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis

scientific article published on 30 September 2015

Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

scientific article published on 04 January 2011

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

artículo científico publicado en 2011

Prevalence of URAT1 allelic variants in the Roma population.

artículo científico publicado en 2016

Serum uric acid increases in patients with systemic autoimmune rheumatic diseases after 3 months of treatment with TNF inhibitors

artículo científico publicado en 2019

Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients

artículo científico publicado en 2020

Unusual presentation of Kelley-Seegmiller syndrome.

artículo científico publicado en 2008

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient

artículo científico publicado en 2010

Lista de obras de Blanka Stiburkova

Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

Analysis of excretion fraction of uric acid

Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout

Changes in serum urate and urate excretion with age

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 gout

Diagnostic tests for primary renal hypouricemia

Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

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

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes

Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout.

Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease

Hereditary renal hypouricemia: a new role for allopurinol?

Hereditary xanthinuria is not so rare disorder of purine metabolism

High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41

Modern diagnostic approach to hereditary xanthinuria.

Modified forearm ischemic test in hypouricemic patients

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

Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis

Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

Prevalence of URAT1 allelic variants in the Roma population.

Serum uric acid increases in patients with systemic autoimmune rheumatic diseases after 3 months of treatment with TNF inhibitors

Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients

Unusual presentation of Kelley-Seegmiller syndrome.

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient