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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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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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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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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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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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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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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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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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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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Unusual Presentation of Kelley-Seegmiller Syndrome

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

2008

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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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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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Diagnostic aspects of familial juvenile hyperuriceamic nephropathy

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

2005

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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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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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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 patients with renal hypouricemia in Czech population

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

2010

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

Hereditary xanthinuria is not so rare disorder of purine metabolism

SAT0012 Genetic Analysis of ABCG2 in Primary Hyperuricemia and Gout

Analysis of Excretion Fraction of Uric Acid

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

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

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

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

Functional non-synonymous variants of ABCG2 and gout risk

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

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females

Unusual Presentation of Kelley-Seegmiller Syndrome

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

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

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

Diagnostic aspects of familial juvenile hyperuriceamic nephropathy

Multiple common and rare variants of ABCG2 cause gout

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

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

Analysis of patients with renal hypouricemia in Czech population

Tobacco cotyledons: A novel system for testing mutagenicity in plants

469 DIAGNOSTIC APPROACH TO HEREDITARY RENAL HYPOURICEMIA

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H 2 S homeostasis

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