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MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV.
Stefekova A, Capkova P, Capkova Z, Curtisova V, Srovnal J, Mracka E, Klaskova E, Prochazka M. Stefekova A, et al. Among authors: capkova p. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022 May;166(2):187-194. doi: 10.5507/bp.2021.019. Epub 2021 Mar 31. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022. PMID: 33824538 Free article.
Prenatal detection of copy number variants in fetuses with detected congenital devolpmental disordes, from 2015 to 2020 by Multiplex Ligation-Dependent Probe Amplification and microarray analysis.
Štefeková Andrea, Čapková Pavlína, Curtisová Václava, Mracká Enghjargalan, Filipová Hana, Spurná Zuzana, Procházka Martin, Ľubušký Marek, Pilka Radovan, Vrtěl Radek. Štefeková Andrea, et al. Among authors: capkova pavlina. Ceska Gynekol. 2023;88(3):162-171. doi: 10.48095/cccg2023162. Ceska Gynekol. 2023. PMID: 37344181 English.
Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities.
Spurná Z, Čapková P, Punová L, DuchoslavovÁ J, Aleksijevic D, Venháčová P, Srovnal J, Štellmachová J, Curtisová V, Bitnerová V, Petřková J, Kolaříková K, Janíková M, Kratochvílová R, Vrtěl P, Vodička R, Vrtěl R, Zapletalová J. Spurná Z, et al. Among authors: capkova p. Gene. 2024 Jan 20;892:147881. doi: 10.1016/j.gene.2023.147881. Epub 2023 Oct 6. Gene. 2024. PMID: 37806643 Free article.
50 results