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[A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders].
Zuev AS, Fonova EA, Demeneva VV, Zarubin AA, Podus AA, Minaycheva LI, Seitova GN, Sivokha VM, Kraeva LS, Lebedev IN. Zuev AS, et al. Among authors: demeneva vv. Zh Nevrol Psikhiatr Im S S Korsakova. 2025;125(2):137-142. doi: 10.17116/jnevro2025125021137. Zh Nevrol Psikhiatr Im S S Korsakova. 2025. PMID: 40047846 Russian.
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Essers R, Lebedev IN, Kurg A, Fonova EA, Stevens SJC, Koeck RM, von Rango U, Brandts L, Deligiannis SP, Nikitina TV, Sazhenova EA, Tolmacheva EN, Kashevarova AA, Fedotov DA, Demeneva VV, Zhigalina DI, Drozdov GV, Al-Nasiry S, Macville MVE, van den Wijngaard A, Dreesen J, Paulussen A, Hoischen A, Brunner HG, Salumets A, Zamani Esteki M. Essers R, et al. Among authors: demeneva vv. Nat Med. 2023 Dec;29(12):3233-3242. doi: 10.1038/s41591-023-02645-5. Epub 2023 Nov 23. Nat Med. 2023. PMID: 37996709 Free PMC article.
Expression of the NUP153 and YWHAB genes from their canonical promoters and alternative promoters of the LINE-1 retrotransposon in the placenta of the first trimester of pregnancy.
Demeneva VV, Tolmacheva EN, Nikitina TV, Sazhenova EA, Yuriev SY, Makhmutkhodzhaev AS, Zuev AS, Filatova SA, Dmitriev AE, Darkova YA, Nazarenko LP, Lebedev IN, Vasilyev SA. Demeneva VV, et al. Vavilovskii Zhurnal Genet Selektsii. 2023 Mar;27(1):63-71. doi: 10.18699/VJGB-23-09. Vavilovskii Zhurnal Genet Selektsii. 2023. PMID: 36923475 Free PMC article.