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Hereditary xanthinuria is not so rare disorder of purine metabolism

Nucleosides, nucleotides & nucleic acids, 2018-01, Vol.37 (6), p.324-328

2018

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SAT0012 Genetic Analysis of ABCG2 in Primary Hyperuricemia and Gout

Annals of the rheumatic diseases, 2016-06, Vol.75 (Suppl 2), p.668-668

2016

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A2.5 Novel dysfunctional variant in ABCG2 gene is a cause of primary hyperuricemia and gout: biochemical, molecular genetic and functional analysis

Annals of the rheumatic diseases, 2015-03, Vol.74 (Suppl 1), p.A17-A17

2015

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Correction to: Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects

Journal of human genetics, 2021-02, Vol.66 (2), p.225-225

2021

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The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients

Arthritis research & therapy, 2019-03, Vol.21 (1), p.77-77, Article 77

2019

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Functional non-synonymous variants of ABCG2 and gout risk

Rheumatology (Oxford, England), 2017-11, Vol.56 (11), p.1982-1992

2017

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

Kidney international, 2006-09, Vol.70 (6), p.1155-1169

2006

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

American journal of human genetics, 2000-06, Vol.66 (6), p.1989-1994

2000

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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

Human molecular genetics, 2000-06, Vol.9 (10), p.1501-1513

2000

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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

Rheumatology (Oxford, England), 2018-07, Vol.57 (7), p.1180-1185

2018

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A6.18 Analysis of ABCG2 gene in primary hyperuricemia and gout

Annals of the rheumatic diseases, 2016-02, Vol.75 (Suppl 1), p.A55-A55

2016

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A2.5Novel dysfunctional variant in ABCG2 gene is a cause of primary hyperuricemia and gout: biochemical, molecular genetic and functional analysis

Annals of the rheumatic diseases, 2015-03, Vol.74 (Suppl 1), p.A17-A17

2015

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Multiple common and rare variants of ABCG2 cause gout

Rheumatic & musculoskeletal diseases open, 2017, Vol.3 (2), p.e000464-e000464

2017

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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

European journal of human genetics : EJHG, 2003-02, Vol.11 (2), p.145-154

2003

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Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects

Journal of human genetics, 2021-02, Vol.66 (2), p.161-169

2021

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Analysis of patients with renal hypouricemia in Czech population

New biotechnology, 2010-04, Vol.27, p.S62

2010

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469 DIAGNOSTIC APPROACH TO HEREDITARY RENAL HYPOURICEMIA

European urology supplements : official journal of the European Association of Urology, 2010-04, Vol.9 (2), p.166-166

2010

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Unusual Presentation of Kelley-Seegmiller Syndrome

Nucleosides, nucleotides & nucleic acids, 2008-06, Vol.27 (6-7), p.648-655

2008

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

Kidney international, 2005-10, Vol.68 (4), p.1472-1482

2005

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Analysis of Excretion Fraction of Uric Acid

Nucleosides, nucleotides & nucleic acids, 2006-06, Vol.25 (9-11), p.1301-1304

2006

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Tobacco cotyledons: A novel system for testing mutagenicity in plants

Environmental and molecular mutagenesis, 1997, Vol.30 (1), p.91-93

1997

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Diagnostic aspects of familial juvenile hyperuriceamic nephropathy

Časopis lékařů českých, 2005, Vol.144 (7), p.466-471

2005

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Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome

Arthritis & rheumatology (Hoboken, N.J.), 2023-07, Vol.75 (7), p.1285-1290

2023

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

Arthritis & rheumatology (Hoboken, N.J.), 2023-05, Vol.75 (5), p.816-825

2023

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Hereditary xanthinuria is not so rare disorder of purine metabolism

SAT0012 Genetic Analysis of ABCG2 in Primary Hyperuricemia and Gout

A2.5 Novel dysfunctional variant in ABCG2 gene is a cause of primary hyperuricemia and gout: biochemical, molecular genetic and functional analysis

Correction to: Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects

The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients

Functional non-synonymous variants of ABCG2 and gout risk

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

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

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

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

A6.18 Analysis of ABCG2 gene in primary hyperuricemia and gout

Complement C4 gene copy number variations and polymorphisms, autoantibodies, and clinical manifestations of juvenile dermatomyositis– a multi-center study

A2.5Novel dysfunctional variant in ABCG2 gene is a cause of primary hyperuricemia and gout: biochemical, molecular genetic and functional analysis

Multiple common and rare variants of ABCG2 cause 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

Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects

Analysis of patients with renal hypouricemia in Czech population

469 DIAGNOSTIC APPROACH TO HEREDITARY RENAL HYPOURICEMIA

Unusual Presentation of Kelley-Seegmiller Syndrome

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

Analysis of Excretion Fraction of Uric Acid

Tobacco cotyledons: A novel system for testing mutagenicity in plants

Diagnostic aspects of familial juvenile hyperuriceamic nephropathy

Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome

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

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