Krepelova A - Search Results

1

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.

Musova Z, Mazanec R, Krepelova A, Ehler E, Vales J, Jaklova R, Prochazka T, Koukal P, Marikova T, Kraus J, Havlovicova M, Sedlacek Z. Musova Z, et al. Among authors: krepelova a. Am J Med Genet A. 2009 Jul;149A(7):1365-74. doi: 10.1002/ajmg.a.32987. Am J Med Genet A. 2009. PMID: 19514047

2

Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.

Musova Z, Sedlacek Z, Mazanec R, Klempir J, Roth J, Plevova P, Vyhnalek M, Kopeckova M, Apltova L, Krepelova A, Zumrova A. Musova Z, et al. Among authors: krepelova a. Cerebellum. 2013 Apr;12(2):155-61. doi: 10.1007/s12311-012-0403-5. Cerebellum. 2013. PMID: 22872568

3

Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.

Zumrová A, Mazanec R, Vyhnálek M, Krepelová A, Musová Z, Krilová S, Appltová L, Havlovicová M. Zumrová A, et al. Among authors: krepelova a. Neuro Endocrinol Lett. 2005 Feb;26(1):71-4. Neuro Endocrinol Lett. 2005. PMID: 15726025

4

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.

Musova Z, Hedvicakova P, Mohrmann M, Tesarova M, Krepelova A, Zeman J, Sedlacek Z. Musova Z, et al. Among authors: krepelova a. Biochem Biophys Res Commun. 2006 Aug 18;347(1):145-9. doi: 10.1016/j.bbrc.2006.06.071. Epub 2006 Jun 21. Biochem Biophys Res Commun. 2006. PMID: 16808900

5

Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.

Bendova S, Krepelova A, Petrak B, Kinstova L, Musova Z, Rausova E, Marikova T. Bendova S, et al. Among authors: krepelova a. J Mol Neurosci. 2007;31(3):273-9. doi: 10.1385/jmn:31:03:273. J Mol Neurosci. 2007. PMID: 17726231

6

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

7

A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.

Musova Z, Kaiserova M, Kriegova E, Fillerova R, Vasovcak P, Santava A, Mensikova K, Zumrova A, Krepelova A, Sedlacek Z, Kanovsky P. Musova Z, et al. Among authors: krepelova a. Cerebellum. 2014 Jun;13(3):331-7. doi: 10.1007/s12311-013-0538-z. Cerebellum. 2014. PMID: 24272953

8

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

9

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

10

Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

Vasovcak P, Pavlikova K, Sedlacek Z, Skapa P, Kouda M, Hoch J, Krepelova A. Vasovcak P, et al. Among authors: krepelova a. PLoS One. 2011;6(8):e24114. doi: 10.1371/journal.pone.0024114. Epub 2011 Aug 25. PLoS One. 2011. PMID: 21901162 Free PMC article.

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