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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.
Hypophosphatasia due to uniparental disomy.
Hancarova M, Krepelova A, Puchmajerova A, Soucek O, Prchalova D, Sumnik Z, Sedlacek Z. Hancarova M, et al. Among authors: krepelova a. Bone. 2015 Dec;81:765-766. doi: 10.1016/j.bone.2015.04.041. Epub 2015 May 1. Bone. 2015. PMID: 25937451 No abstract available.
[Cowden syndrome].
Puchmajerová A, Vasovcák P, Krepelová A, Plevová P. Puchmajerová A, et al. Among authors: krepelova a. Klin Onkol. 2009;22 Suppl:S56-7. Klin Onkol. 2009. PMID: 19764399 Review. Czech. No abstract available.
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
[Peutz-Jeghers syndrome].
Puchmajerová A, Vasovák P, Krepelová A. Puchmajerová A, et al. Among authors: krepelova a. Klin Onkol. 2009;22 Suppl:S36-7. Klin Onkol. 2009. PMID: 19764394 Review. Czech. No abstract available.
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
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
Zieg J, Krepelova A, Baradaran-Heravi A, Levtchenko E, Guillén-Navarro E, Balascakova M, Sukova M, Seeman T, Dusek J, Simankova N, Rosik T, Skalova S, Lebl J, Boerkoel CF. Zieg J, et al. Among authors: krepelova a. Pediatr Rheumatol Online J. 2011 Sep 13;9(1):27. doi: 10.1186/1546-0096-9-27. Pediatr Rheumatol Online J. 2011. PMID: 21914180 Free PMC article.
111 results