Dvoráková L - Search Results

1

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.

Sedivá A, Smith CI, Asplund AC, Hadac J, Janda A, Zeman J, Hansíková H, Dvoráková L, Mrázová L, Velbri S, Koehler C, Roesch K, Sullivan KE, Futatani T, Ochs HD. Sedivá A, et al. Among authors: dvorakova l. J Clin Immunol. 2007 Nov;27(6):640-6. doi: 10.1007/s10875-007-9123-x. Epub 2007 Sep 12. J Clin Immunol. 2007. PMID: 17851739

2

Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes.

Matej R, Dvoráková L, Mrázová L, Houst'ková H, Elleder M. Matej R, et al. Among authors: dvorakova l. Clin Neuropathol. 2008 Mar-Apr;27(2):64-71. doi: 10.5414/npp27064. Clin Neuropathol. 2008. PMID: 18402384 Free article.

3

Enzyme replacement therapy for Gaucher disease in twin pregnancy.

Malinová V, Poupetová H, Dvoráková L, Zeman J. Malinová V, et al. Among authors: dvorakova l. Int J Gynaecol Obstet. 2009 Jul;106(1):64-6. doi: 10.1016/j.ijgo.2009.02.014. Epub 2009 Apr 5. Int J Gynaecol Obstet. 2009. PMID: 19349046 No abstract available.

4

Glucocerebrosidase gene has an alternative upstream promoter, which has features and expression characteristic of housekeeping genes.

Svobodová E, Mrázová L, Lukšan O, Elstein D, Zimran A, Stolnaya L, Minks J, Eberová J, Dvořáková L, Jirsa M, Hřebíček M. Svobodová E, et al. Among authors: dvorakova l. Blood Cells Mol Dis. 2011 Mar 15;46(3):239-45. doi: 10.1016/j.bcmd.2010.12.011. Epub 2011 Jan 20. Blood Cells Mol Dis. 2011. PMID: 21256059

5

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

Storkanova G, Vlaskova H, Chuzhanova N, Zeman J, Stranecky V, Majer F, Peskova K, Luksan O, Jirsa M, Hrebicek M, Dvorakova L. Storkanova G, et al. Among authors: dvorakova l. Clin Genet. 2013 Dec;84(6):552-9. doi: 10.1111/cge.12085. Epub 2013 Feb 7. Clin Genet. 2013. PMID: 23278509

6

X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.

Zemanova M, Chrastina P, Dvorakova L, Reboun M, Vlaskova H, Jahnova H, El-Lababidi N, Cepova J, Honzik T, Zeman J. Zemanova M, et al. Among authors: dvorakova l. Neuro Endocrinol Lett. 2021 Sep 10;42(5):359-367. Online ahead of print. Neuro Endocrinol Lett. 2021. PMID: 34506099

7

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

Dvoráková L, Storkánová G, Unterrainer G, Hujová J, Kmoch S, Zeman J, Hrebícek M, Berger J. Dvoráková L, et al. Hum Mutat. 2001;18(1):52-60. doi: 10.1002/humu.1149. Hum Mutat. 2001. PMID: 11438993

8

HGSNAT has a TATA-less promoter with multiple starts of transcription.

Richtrova E, Mrazova LS, Musalkova D, Luksan O, Stolnaya L, Minks J, Lukas J, Dvorakova L, Jirsa M, Hrebicek M. Richtrova E, et al. Among authors: dvorakova l. Gene. 2016 Oct 30;592(1):36-42. doi: 10.1016/j.gene.2016.07.051. Epub 2016 Jul 22. Gene. 2016. PMID: 27452122

9

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

Vazna A, Beesley C, Berna L, Stolnaja L, Myskova H, Bouckova M, Vlaskova H, Poupetova H, Zeman J, Magner M, Hlavata A, Winchester B, Hrebicek M, Dvorakova L. Vazna A, et al. Among authors: dvorakova l. Am J Med Genet A. 2009 May;149A(5):965-74. doi: 10.1002/ajmg.a.32812. Am J Med Genet A. 2009. PMID: 19396826 Free PMC article.

10

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J. Majer F, et al. Among authors: dvorakova l. J Inherit Metab Dis. 2014 Jan;37(1):117-24. doi: 10.1007/s10545-013-9617-z. Epub 2013 May 29. J Inherit Metab Dis. 2014. PMID: 23716275

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