Jirsa M - Search Results

1

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: jirsa m. Clin Genet. 2013 Dec;84(6):552-9. doi: 10.1111/cge.12085. Epub 2013 Feb 7. Clin Genet. 2013. PMID: 23278509

2

Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis.

Jirsa M, Cebecauerova D, Budisova L, Chuzhanova N, Hrebicek M, Dvorakova L, Vitek L, Brodanova M, Hulek P, Taimr P. Jirsa M, et al. Hepatol Res. 2004 Sep;30(1):1-3. doi: 10.1016/j.hepres.2004.05.001. Hepatol Res. 2004. PMID: 15341767

3

Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.

Cebecauerova D, Jirasek T, Budisova L, Mandys V, Volf V, Novotna Z, Subhanova I, Hrebicek M, Elleder M, Jirsa M. Cebecauerova D, et al. Among authors: jirsa m. Gastroenterology. 2005 Jul;129(1):315-20. doi: 10.1053/j.gastro.2004.10.009. Gastroenterology. 2005. PMID: 16012956

4

Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump.

Hrebícek M, Jirásek T, Hartmannová H, Nosková L, Stránecký V, Ivánek R, Kmoch S, Cebecauerová D, Vítek L, Mikulecký M, Subhanová I, Hozák P, Jirsa M. Hrebícek M, et al. Among authors: jirsa m. Liver Int. 2007 May;27(4):485-91. doi: 10.1111/j.1478-3231.2007.01446.x. Liver Int. 2007. PMID: 17403188

5

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency.

Dezortova M, Jiru F, Petrasek J, Malinova V, Zeman J, Jirsa M, Hajek M. Dezortova M, et al. Among authors: jirsa m. MAGMA. 2008 Sep;21(5):327-32. doi: 10.1007/s10334-008-0137-z. Epub 2008 Aug 26. MAGMA. 2008. PMID: 18726626

6

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.

Luksan O, Jirsa M, Eberova J, Minks J, Treslova H, Bouckova M, Storkanova G, Vlaskova H, Hrebicek M, Dvorakova L. Luksan O, et al. Among authors: jirsa m. Hum Mutat. 2010 Apr;31(4):E1294-303. doi: 10.1002/humu.21215. Hum Mutat. 2010. PMID: 20127982

7

Role of common canalicular transporter gene variations in aetiology of idiopathic gallstones in childhood.

Bronský J, Jirsa M, Nevoral J, Hrebícek M. Bronský J, et al. Among authors: jirsa m. Folia Biol (Praha). 2010;56(1):9-13. Folia Biol (Praha). 2010. PMID: 20163776 Free article.

8

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: jirsa m. 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

9

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.

van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH. van de Steeg E, et al. Among authors: jirsa m. J Clin Invest. 2012 Feb;122(2):519-28. doi: 10.1172/JCI59526. Epub 2012 Jan 9. J Clin Invest. 2012. PMID: 22232210 Free PMC article.

10

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis.

Sticova E, Elleder M, Hulkova H, Luksan O, Sauer M, Wunschova-Moudra I, Novotny J, Jirsa M. Sticova E, et al. Among authors: jirsa m. World J Gastroenterol. 2013 Feb 14;19(6):946-50. doi: 10.3748/wjg.v19.i6.946. World J Gastroenterol. 2013. PMID: 23429660 Free PMC article.

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