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Page 1
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. Stránecký V, et al. Among authors: noskova l. Am J Hum Genet. 2013 May 2;92(5):792-9. doi: 10.1016/j.ajhg.2013.03.023. Epub 2013 Apr 18. Am J Hum Genet. 2013. PMID: 23602711 Free PMC article.
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: noskova 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.
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: noskova l. Liver Int. 2007 May;27(4):485-91. doi: 10.1111/j.1478-3231.2007.01446.x. Liver Int. 2007. PMID: 17403188
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. Cízková A, et al. Among authors: noskova l. BMC Genomics. 2008 Jan 25;9:38. doi: 10.1186/1471-2164-9-38. BMC Genomics. 2008. PMID: 18221507 Free PMC article.
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. Cízková A, et al. Among authors: noskova l. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953340
Detection of viral infections by an oligonucleotide microarray.
Sip M, Bystricka D, Kmoch S, Noskova L, Hartmannova H, Dedic P. Sip M, et al. Among authors: noskova l. J Virol Methods. 2010 Apr;165(1):64-70. doi: 10.1016/j.jviromet.2010.01.004. Epub 2010 Jan 25. J Virol Methods. 2010. PMID: 20100517
Expression and processing of the TMEM70 protein.
Hejzlarová K, Tesařová M, Vrbacká-Čížková A, Vrbacký M, Hartmannová H, Kaplanová V, Nosková L, Kratochvílová H, Buzková J, Havlíčková V, Zeman J, Kmoch S, Houštěk J. Hejzlarová K, et al. Among authors: noskova l. Biochim Biophys Acta. 2011 Jan;1807(1):144-9. doi: 10.1016/j.bbabio.2010.10.005. Epub 2010 Oct 16. Biochim Biophys Acta. 2011. PMID: 20937241 Free article.
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. Nosková L, et al. Am J Hum Genet. 2011 Aug 12;89(2):241-52. doi: 10.1016/j.ajhg.2011.07.003. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820099 Free PMC article.
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: noskova l. 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.
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. Ehling R, et al. Among authors: noskova l. J Neurol Sci. 2013 Mar 15;326(1-2):75-82. doi: 10.1016/j.jns.2013.01.017. Epub 2013 Feb 13. J Neurol Sci. 2013. PMID: 23415546
53 results