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Page 1
Searching for genetic variants associated with thrombophilia.
Vrtěl P, Slavík L, Vodička R, Procházka M, Procházková J, Vrtěl R, Úlehlová J, Rohoň P, Štellmachová J. Vrtěl P, et al. Among authors: stellmachova j. Cas Lek Cesk. 2019 Spring;158(1):28-32. Cas Lek Cesk. 2019. PMID: 31046389 English.
Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms.
Vrtel P, Vrtel R, Klaskova E, Vrbicka D, Adamova K, Pavlicek J, Hana V, Hana V, Soucek O, Stara V, Lebl J, Snajdrova M, Zapletalova J, Furst T, Kapralova S, Tauber Z, Krejcirikova E, Routilova M, Stellmachova J, Vodicka R, Prochazka M. Vrtel P, et al. Among authors: stellmachova j. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022 Mar;166(1):63-67. doi: 10.5507/bp.2020.060. Epub 2021 Jan 12. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022. PMID: 33463629 Free article.
Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.
Vrtel P, Slavik L, Vodicka R, Stellmachova J, Prochazka M, Prochazkova J, Ulehlova J, Rohon P, Simurda T, Stasko J, Martinkova I, Vrtel R. Vrtel P, et al. Among authors: stellmachova j. Diagnostics (Basel). 2022 Apr 23;12(5):1060. doi: 10.3390/diagnostics12051060. Diagnostics (Basel). 2022. PMID: 35626216 Free PMC article.
Ovarian tumors and genetic predisposition.
Štellmachová Júlia, Vrtěl Petr, Vrtěl Radek, Janíková Mária, Kolaříková Kristýna, Procházka Martin, Vodička Radek. Štellmachová Júlia, et al. Ceska Gynekol. 2022;87(3):211-216. doi: 10.48095/cccg2022211. Ceska Gynekol. 2022. PMID: 35896402 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: stellmachova j. Gene. 2024 Jan 20;892:147881. doi: 10.1016/j.gene.2023.147881. Epub 2023 Oct 6. Gene. 2024. PMID: 37806643 Free article.
SPG11: clinical and genetic features of seven Czech patients and literature review.
Doleckova K, Roth J, Stellmachova J, Gescheidt T, Sigut V, Houska P, Jech R, Zech M, Vyhnalek M, Vyhnalkova E, Seeman P, Meszarosova AU. Doleckova K, et al. Among authors: stellmachova j. Neurol Res. 2022 May;44(5):379-389. doi: 10.1080/01616412.2021.1975224. Epub 2022 Mar 7. Neurol Res. 2022. PMID: 35254204 Review.