Stiburkova B - Search Results

1

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

Mancikova A, Krylov V, Hurba O, Sebesta I, Nakamura M, Ichida K, Stiburkova B. Mancikova A, et al. Among authors: stiburkova b. Clin Exp Nephrol. 2016 Aug;20(4):578-584. doi: 10.1007/s10157-015-1186-z. Epub 2015 Oct 24. Clin Exp Nephrol. 2016. PMID: 26500098

2

Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.

Stibůrková B, Majewski J, Sebesta I, Zhang W, Ott J, Kmoch S. Stibůrková B, et al. Am J Hum Genet. 2000 Jun;66(6):1989-94. doi: 10.1086/302936. Epub 2000 Apr 25. Am J Hum Genet. 2000. PMID: 10780922 Free PMC article.

3

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.

Kmoch S, Hartmannová H, Stibůrková B, Krijt J, Zikánová M, Sebesta I. Kmoch S, et al. Among authors: stiburkova b. Hum Mol Genet. 2000 Jun 12;9(10):1501-13. doi: 10.1093/hmg/9.10.1501. Hum Mol Genet. 2000. PMID: 10888601

4

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.

Stibůrková B, Majewski J, Hodanová K, Ondrová L, Jerábková M, Zikánová M, Vylet'al P, Sebesta I, Marinaki A, Simmonds A, Matthijs G, Fryns JP, Torres R, Puig JG, Ott J, Kmoch S. Stibůrková B, et al. Eur J Hum Genet. 2003 Feb;11(2):145-54. doi: 10.1038/sj.ejhg.5200937. Eur J Hum Genet. 2003. PMID: 12634862

5

[Diagnostic aspects of familial juvenile hyperuriceamic nephropathy].

Stibůrková B, Sebesta I, Kmoch S. Stibůrková B, et al. Cas Lek Cesk. 2005;144(7):466-71. Cas Lek Cesk. 2005. PMID: 16161539 Czech.

6

Analysis of excretion fraction of uric acid.

Stibůrková B, Pospísilová E, Kmoch S, Sebesta I. Stibůrková B, et al. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1301-4. doi: 10.1080/15257770600893917. Nucleosides Nucleotides Nucleic Acids. 2006. PMID: 17065111

7

Unusual presentation of Kelley-Seegmiller syndrome.

Sebesta I, Stiburková B, Dvorakova L, Hrebicek M, Minks J, Stolnaja L, Vernerova Z, Rychlik I. Sebesta I, et al. Among authors: stiburkova b. Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):648-55. doi: 10.1080/15257770802143863. Nucleosides Nucleotides Nucleic Acids. 2008. PMID: 18600521

8

Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.

Stiburkova B, Ichida K, Sebesta I. Stiburkova B, et al. Mol Genet Metab. 2011 Apr;102(4):430-5. doi: 10.1016/j.ymgme.2010.12.016. Epub 2011 Jan 4. Mol Genet Metab. 2011. PMID: 21256783

9

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

Stiburkova B, Krijt J, Vyletal P, Bartl J, Gerhatova E, Korinek M, Sebesta I. Stiburkova B, et al. Clin Chim Acta. 2012 Jan 18;413(1-2):93-9. doi: 10.1016/j.cca.2011.08.038. Epub 2011 Sep 22. Clin Chim Acta. 2012. PMID: 21963464

10

Diagnostic tests for primary renal hypouricemia.

Sebesta I, Stiburkova B, Bartl J, Ichida K, Hosoyamada M, Taylor J, Marinaki A. Sebesta I, et al. Among authors: stiburkova b. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1112-6. doi: 10.1080/15257770.2011.611483. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 22132965

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