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Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Paderova J, Drabova J, Holubova A, Vlckova M, Havlovicova M, Gregorova A, Pourova R, Romankova V, Moslerova V, Geryk J, Norambuena P, Krulisova V, Krepelova A, Macek M Sr, Macek M Jr. Paderova J, et al. Among authors: krepelova a. Eur J Med Genet. 2018 Jun;61(6):315-321. doi: 10.1016/j.ejmg.2018.01.005. Epub 2018 Jan 4. Eur J Med Genet. 2018. PMID: 29307790
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Paděrová J, Holubová A, Simandlová M, Puchmajerová A, Vlčková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeříková M, Ptáková N, Drábová J, Geryk J, Maver A, Křepelová A, Macek M Jr. Paděrová J, et al. Among authors: krepelova a. Clin Genet. 2016 Sep;90(3):230-7. doi: 10.1111/cge.12754. Epub 2016 Mar 8. Clin Genet. 2016. PMID: 26841933
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
Schwarz M, Ryba L, Křepelová A, Moslerová V, Zelinová M, Turnovec M, Martinková J, Kratochvílová L, Drahanský M, Macek M Jr, Havlovicová M. Schwarz M, et al. Among authors: krepelova a. Am J Med Genet A. 2022 Apr;188(4):1083-1087. doi: 10.1002/ajmg.a.62616. Epub 2021 Dec 14. Am J Med Genet A. 2022. PMID: 34907639
Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
Hubacek M, Kripnerova T, Nemcikova M, Krepelová A, Puchmajerova A, Malikova M, Havlovicová M, Cadova J, Kodet R, Macek M Jr, Dostalova T. Hubacek M, et al. Among authors: krepelova a. Neuro Endocrinol Lett. 2016 Sep;37(4):269-276. Neuro Endocrinol Lett. 2016. PMID: 27857042
Elejalde syndrome--a case report.
Silhánová E, Plevová P, Curík R, Kaspercík I, Krepelová A. Silhánová E, et al. Among authors: krepelova a. Am J Med Genet A. 2006 Oct 15;140(20):2223-6. doi: 10.1002/ajmg.a.31419. Am J Med Genet A. 2006. PMID: 16969863
Mutations in STK11 gene in Czech Peutz-Jeghers patients.
Vasovcák P, Puchmajerová A, Roubalík J, Krepelová A. Vasovcák P, et al. Among authors: krepelova a. BMC Med Genet. 2009 Jul 19;10:69. doi: 10.1186/1471-2350-10-69. BMC Med Genet. 2009. PMID: 19615099 Free PMC article.
111 results