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Results: 18

1.

Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.

Neřoldová M, Fraňková S, Stránecký V, Honsová E, Lukšan O, Beneš M, Michalová K, Kmoch S, Jirsa M.

Clin Genet. 2014 Feb 12. doi: 10.1111/cge.12346. [Epub ahead of print] No abstract available.

PMID:
24635876
[PubMed - as supplied by publisher]
2.

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.

Hartmannova H, Kubanek M, Sramko M, Piherova L, Noskova L, Hodanova K, Stranecky V, Pristoupilova A, Sovova J, Marek T, Maluskova J, Ridzon P, Kautzner J, Hulkova H, Kmoch S.

Circ Cardiovasc Genet. 2013 Dec;6(6):543-51. doi: 10.1161/CIRCGENETICS.113.000245. Epub 2013 Oct 10.

PMID:
24114807
[PubMed - in process]
3.

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

Vondráčková A, Veselá K, Kratochvílová H, Kučerová Vidrová V, Vinšová K, Stránecký V, Honzík T, Hansíková H, Zeman J, Tesařová M.

Eur J Hum Genet. 2014 Mar;22(3):431-4. doi: 10.1038/ejhg.2013.148. Epub 2013 Jul 10.

PMID:
23838601
[PubMed - in process]
4.

Mutations in ANTXR1 cause GAPO syndrome.

Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, Přistoupilová A, Hodaňová K, Sovová J, Hůlková H, Piherová L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martásek P, Baxová A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S.

Am J Hum Genet. 2013 May 2;92(5):792-9. doi: 10.1016/j.ajhg.2013.03.023. Epub 2013 Apr 18.

PMID:
23602711
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.

Ehling R, Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Benke T, Kovacs GG, Ströbel T, Niedermüller U, Wagner M, Nachbauer W, Janecke A, Budka H, Boesch S, Kmoch S.

J Neurol Sci. 2013 Mar 15;326(1-2):75-82. doi: 10.1016/j.jns.2013.01.017. Epub 2013 Feb 13.

PMID:
23415546
[PubMed - indexed for MEDLINE]
6.

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.

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

PMID:
23278509
[PubMed - in process]
7.

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.

Kmoch S, Stránecký V, Emes RD, Mitchison HM.

Biochim Biophys Acta. 2013 Nov;1832(11):1831-41. doi: 10.1016/j.bbadis.2012.12.010. Epub 2012 Dec 26. Review.

PMID:
23274885
[PubMed - indexed for MEDLINE]
8.

DNA damage response and inflammatory signaling limit the MLL-ENL-induced leukemogenesis in vivo.

Takacova S, Slany R, Bartkova J, Stranecky V, Dolezel P, Luzna P, Bartek J, Divoky V.

Cancer Cell. 2012 Apr 17;21(4):517-31. doi: 10.1016/j.ccr.2012.01.021.

PMID:
22516260
[PubMed - indexed for MEDLINE]
Free Article
9.

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.

Kovářová N, Cížková Vrbacká A, Pecina P, Stránecký V, Pronicka E, Kmoch S, Houštěk J.

Biochim Biophys Acta. 2012 Jul;1822(7):1114-24. doi: 10.1016/j.bbadis.2012.03.007. Epub 2012 Mar 20.

PMID:
22465034
[PubMed - indexed for MEDLINE]
Free Article
10.

Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.

Havlíčková Karbanová V, Cížková Vrbacká A, Hejzlarová K, Nůsková H, Stránecký V, Potocká A, Kmoch S, Houštěk J.

Biochim Biophys Acta. 2012 Jul;1817(7):1037-43. doi: 10.1016/j.bbabio.2012.03.004. Epub 2012 Mar 10.

PMID:
22433607
[PubMed - indexed for MEDLINE]
Free Article
11.

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.

J Clin Invest. 2012 Feb 1;122(2):519-28. doi: 10.1172/JCI59526. Epub 2012 Jan 9.

PMID:
22232210
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S.

Am J Hum Genet. 2011 Aug 12;89(2):241-52. doi: 10.1016/j.ajhg.2011.07.003. Epub 2011 Aug 4. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589.

PMID:
21820099
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

More on clinical renal genetics.

Grünfeld JP, Hwu W, Chien Y, Lee N, Chiang S, Dobrovolny R, Huang A, Yeh H, Chao M, Lin S, Kitagawa T, Desnick R, Hsu L, Van Keimpema L, Nevens F, Vanslembrouck R, Van Oijen G, Hoffmann A, Dekker H, De Man R, Drenth J, Alamovitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agrmael T, Marro B, Ronco P, Zivna M, Hulkova H, Matignon M, Hodanova K, Vylet'al P, Kalbacova M, Baresova V, Sikora J, Blazkova H, Zivny J, Ivanek R, Stranecky V, Sovova J, Claes K, Lerut E, Fryns J, Hart P, Hart T, Adams J, Pawtowski A, Clemessy M, Gasc J, Gubler M, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer A, Kmoch S, Brown E, Schlöndorff J, Becker Dj, Tsukaguchi H, Uschinski A, Higgs H, Henderson J, Pollak M.

Clin J Am Soc Nephrol. 2010 Apr;5(4):563-7. doi: 10.2215/CJN.01720210. Epub 2010 Mar 25. No abstract available.

PMID:
20338964
[PubMed]
Free Article
14.

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S.

Am J Hum Genet. 2009 Aug;85(2):204-13. doi: 10.1016/j.ajhg.2009.07.010. Epub 2009 Aug 6.

PMID:
19664745
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S.

Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26.

PMID:
18953340
[PubMed - indexed for MEDLINE]
16.

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.

Cízková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesarová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, Seneca S, Houstĕk J, Kmoch S.

BMC Genomics. 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38.

PMID:
18221507
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

Liver Int. 2007 May;27(4):485-91.

PMID:
17403188
[PubMed - indexed for MEDLINE]
18.

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.

Am J Hum Genet. 2006 Nov;79(5):807-19. Epub 2006 Sep 8.

PMID:
17033958
[PubMed - indexed for MEDLINE]
Free PMC Article

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