Zeman J - 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: zeman j. 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

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene.

Vesela K, Hulkova H, Hansikova H, Zeman J, Elleder M. Vesela K, et al. Among authors: zeman j. APMIS. 2008 Jan;116(1):41-9. doi: 10.1111/j.1600-0463.2008.00772.x. APMIS. 2008. PMID: 18254779

3

Loss of function of Sco1 and its interaction with cytochrome c oxidase.

Stiburek L, Vesela K, Hansikova H, Hulkova H, Zeman J. Stiburek L, et al. Among authors: zeman j. Am J Physiol Cell Physiol. 2009 May;296(5):C1218-26. doi: 10.1152/ajpcell.00564.2008. Epub 2009 Mar 18. Am J Physiol Cell Physiol. 2009. PMID: 19295170 Free article.

4

Ultrastructural changes of mitochondria in the cultivated skin fibroblasts of patients with point mutations in mitochondrial DNA.

Brantová O, Tesarová M, Hansíková H, Elleder M, Zeman J, Sládková J. Brantová O, et al. Among authors: zeman j. Ultrastruct Pathol. 2006 Jul-Aug;30(4):239-45. doi: 10.1080/01913120600820112. Ultrastruct Pathol. 2006. PMID: 16971348

5

Activities of respiratory chain complexes in isolated platelets in females with anorexia nervosa.

Böhm M, Papezova H, Hansikova H, Wenchich L, Zeman J. Böhm M, et al. Among authors: zeman j. Int J Eat Disord. 2007 Nov;40(7):659-63. doi: 10.1002/eat.20403. Int J Eat Disord. 2007. PMID: 17584871

6

Enzyme replacement therapy for Gaucher disease in twin pregnancy.

Malinová V, Poupetová H, Dvoráková L, Zeman J. Malinová V, et al. Among authors: zeman j. 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.

7

Novel mutations in the TAZ gene in patients with Barth syndrome.

Mazurová S, Tesařová M, Magner M, Houšťková H, Hansíková H, Augustínová J, Tomek V, Vondráčková A, Zeman J, Honzík T. Mazurová S, et al. Among authors: zeman j. Prague Med Rep. 2013;114(3):139-53. doi: 10.14712/23362936.2014.16. Prague Med Rep. 2013. PMID: 24093814

8

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J. Böhm M, et al. Among authors: zeman j. Pediatr Res. 2006 Jan;59(1):21-6. doi: 10.1203/01.pdr.0000190572.68191.13. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16326995

9

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Zahorakova D, Rosipal R, Hadac J, Zumrova A, Bzduch V, Misovicova N, Baxova A, Zeman J, Martasek P. Zahorakova D, et al. Among authors: zeman j. J Hum Genet. 2007;52(4):342-348. doi: 10.1007/s10038-007-0121-x. Epub 2007 Feb 15. J Hum Genet. 2007. PMID: 17387578

10

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.

Vondrackova A, Vesela K, Hansikova H, Docekalova DZ, Rozsypalova E, Zeman J, Tesarova M. Vondrackova A, et al. Among authors: zeman j. J Hum Genet. 2012 Jul;57(7):442-8. doi: 10.1038/jhg.2012.49. Epub 2012 May 17. J Hum Genet. 2012. PMID: 22592081

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