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Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.
Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, Kosarova M, Vrtel R, Stranecky V, Kmoch S, Zikan M, Macurek L, Kleibl Z, Soukupova J. Lhotova K, et al. Among authors: kmoch s. Cancers (Basel). 2020 Apr 13;12(4):956. doi: 10.3390/cancers12040956. Cancers (Basel). 2020. PMID: 32295079 Free PMC article.
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. Havlíčková Karbanová V, et al. Among authors: kmoch s. Biochim Biophys Acta. 2012 Jul;1817(7):1037-43. doi: 10.1016/j.bbabio.2012.03.004. Epub 2012 Mar 10. Biochim Biophys Acta. 2012. PMID: 22433607 Free article.
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S, Stránecký V, Emes RD, Mitchison HM. Kmoch S, et al. Biochim Biophys Acta. 2013 Nov;1832(11):1831-41. doi: 10.1016/j.bbadis.2012.12.010. Epub 2012 Dec 26. Biochim Biophys Acta. 2013. PMID: 23274885 Free article. Review.
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.
Neřoldová M, Stránecký V, Hodaňová K, Hartmannová H, Piherová L, Přistoupilová A, Mrázová L, Vrablík M, Adámková V, Hubáček JA, Jirsa M, Kmoch S. Neřoldová M, et al. Among authors: kmoch s. Pharmacogenomics. 2016 Aug;17(13):1405-14. doi: 10.2217/pgs-2016-0071. Epub 2016 Jun 14. Pharmacogenomics. 2016. PMID: 27296017
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J, Zemankova P, Lhotova K, Janatova M, Borecka M, Stolarova L, Lhota F, Foretova L, Machackova E, Stranecky V, Tavandzis S, Kleiblova P, Vocka M, Hartmannova H, Hodanova K, Kmoch S, Kleibl Z. Soukupova J, et al. Among authors: kmoch s. PLoS One. 2018 Apr 12;13(4):e0195761. doi: 10.1371/journal.pone.0195761. eCollection 2018. PLoS One. 2018. PMID: 29649263 Free PMC article.
Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.
Chaloupka A, Piherova L, Grochova I, Binova J, Krejci J, Spinarova L, Stranecky V, Kmoch S, Kubanek M. Chaloupka A, et al. Among authors: kmoch s. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019 Dec;163(4):309-317. doi: 10.5507/bp.2018.054. Epub 2018 Sep 24. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019. PMID: 30275597 Free article.
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z. Kleiblova P, et al. Among authors: kmoch s. Int J Cancer. 2019 Oct 1;145(7):1782-1797. doi: 10.1002/ijc.32385. Epub 2019 May 20. Int J Cancer. 2019. PMID: 31050813 Free article.
158 results