Mrázová 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: mrazova 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

Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.

Pospísilová E, Mrázová L, Hrdá J, Martincová O, Zeman J. Pospísilová E, et al. Among authors: mrazova l. J Inherit Metab Dis. 2003;26(5):433-41. doi: 10.1023/a:1025169210121. J Inherit Metab Dis. 2003. PMID: 14518825

3

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Hrebícek M, et al. Among authors: mrazova l. Am J Hum Genet. 2006 Nov;79(5):807-19. doi: 10.1086/508294. Epub 2006 Sep 8. Am J Hum Genet. 2006. PMID: 17033958 Free PMC article.

4

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: mrazova l. Clin Neuropathol. 2008 Mar-Apr;27(2):64-71. doi: 10.5414/npp27064. Clin Neuropathol. 2008. PMID: 18402384 Free article.

5

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: mrazova 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

6

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

Stehlíková K, Skálová D, Zídková J, Haberlová J, Voháňka S, Mazanec R, Mrázová L, Vondráček P, Ošlejšková H, Zámečník J, Honzík T, Zeman J, Magner M, Šišková D, Langová M, Gregor V, Godava M, Smolka V, Fajkusová L. Stehlíková K, et al. Among authors: mrazova l. Clin Genet. 2017 Mar;91(3):463-469. doi: 10.1111/cge.12839. Epub 2016 Sep 26. Clin Genet. 2017. PMID: 27447704

7

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: mrazova ls. Gene. 2016 Oct 30;592(1):36-42. doi: 10.1016/j.gene.2016.07.051. Epub 2016 Jul 22. Gene. 2016. PMID: 27452122

8

Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.

Hodanová K, Hrebícek M, Cervenková M, Mrázová L, Vepreková L, Zemen J. Hodanová K, et al. Among authors: mrazova l. Blood Cells Mol Dis. 1999 Oct-Dec;25(5-6):287-98. Blood Cells Mol Dis. 1999. PMID: 10744424

9

Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.

Mrázová L, Fukao T, Hálovd K, Gregová E, Kohút V, Pribyl D, Chrastina P, Kondo N, Pospisilová E. Mrázová L, et al. J Inherit Metab Dis. 2005;28(2):235-6. doi: 10.1007/s10545-005-7497-6. J Inherit Metab Dis. 2005. PMID: 15877211

10

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebícek M, Kmoch S, Pshezhetsky AV. Feldhammer M, et al. Among authors: mrazova l. Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. Hum Mutat. 2009. PMID: 19479962 Review.

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