Zobrazeno 1 - 10 of 147 pro vyhledávání: '"E. A. Tolmacheva"'
1
Akademický článek
Xq12q13.2 duplication detected in a child in selective exome screening
Autor: A. A. Dokshukina, Je. Shubina, D. N. Maslennikov, I. O. Sadelov, E. R. Tolmacheva, S. V. Ionushene, T. A. Bairova, L. V. Rychkova, D. Yu. Trofimov, D. N. Degtyarev
Publikováno v: Acta Biomedica Scientifica, Vol 9, Iss 4, Pp 61-68 (2024)
Background. Within the framework of the regional pilot project on selective exome screening of newborn children, which is carried out on the basis of the National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academi
Externí odkaz: https://doaj.org/article/cf15cdc9c1474a52a7d4db98b7ec44f3
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2
Akademický článek
Aberrant methylation of placental development genes in chorionic villi of spontaneous abortions with trisomy 16
Autor: О. Yu. Vasilyeva, E. N. Tolmacheva, A. E. Dmitriev, Ya. A. Darkova, E. A. Sazhenova, T. V. Nikitina, I. N. Lebedev, S. A. Vasilyev
Publikováno v: Вавиловский журнал генетики и селекции, Vol 28, Iss 2, Pp 198-203 (2024)
In humans, aneuploidy is incompatible with the birth of healthy children and mainly leads to the death of embryos in the early stages of development in the first trimester of pregnancy. Trisomy 16 is the most common aneup loidy among spontaneous abor
Externí odkaz: https://doaj.org/article/2ac1243c5f7443e7a449662c9762763c
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3
Akademický článek
Comparative cytogenetics of anembryonic pregnancies and missed abortions in human
Autor: T. V. Nikitina, E. A. Sazhenova, E. N. Tolmacheva, N. N. Sukhanova, S. A. Vasilyev, I. N. Lebedev
Publikováno v: Вавиловский журнал генетики и селекции, Vol 27, Iss 1, Pp 28-35 (2023)
Miscarriage is an important problem in human reproduction, affecting 10–15 % of clinically recognized pregnancies. The cases of embryonic death can be divided into missed abortion (MA), for which the ultrasound sign of the embryo death is the absen
Externí odkaz: https://doaj.org/article/26c71606a5604cefb18e59f55de67558
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4
Akademický článek
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
Autor: V. V. Demeneva, E. N. Tolmacheva, T. V. Nikitina, E. A. Sazhenova, S. Yu. Yuriev, A. Sh. Makhmutkhodzhaev, A. S. Zuev, S. A. Filatova, A. E. Dmitriev, Ya. A. Darkova, L. P. Nazarenko, I. N. Lebedev, S. A. Vasilyev
Publikováno v: Вавиловский журнал генетики и селекции, Vol 27, Iss 1, Pp 63-71 (2023)
The placenta has a unique hypomethylated genome. Due to this feature of the placenta, there is a potential possibility of using regulatory elements derived from retroviruses and retrotransposons, which are suppressed by DNA methylation in the adult b
Externí odkaz: https://doaj.org/article/5a1a5fd8039a49aa8d6121a82b380e40
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5
Akademický článek
Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report
Autor: N. G. Lyukshina, A. A. Sharkov, E. N. Tolmacheva
Publikováno v: Русский журнал детской неврологии, Vol 16, Iss 1-2, Pp 69-75 (2021)
Developmental encephalopathy with epilepsy or epileptic encephalopathy, associated with a heterozygous mutation in the IRF2BPL gene, is a rare severe disorder. It’s manifested by developmental delay or regression of skills until or after epilepsy o
Externí odkaz: https://doaj.org/article/939198e216c84ffa86ddeee83d086c9a
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7
Akademický článek
Substantiation of conditions for determination of related substances in bisoprolol fumarate by HPLC
Autor: O. A. Baturina, E. V. Chaykovskaya, E. P. Gernikova, T. N. Bokovikova, L. A. Stronova, Yu. R. Biglova, S. A. Manaeva, E. S. Tolmacheva
Publikováno v: Регуляторные исследования и экспертиза лекарственных средств, Vol 7, Iss 3, Pp 164-169 (2018)
The article summarizes the results of information analysis of bisoprolol fumarate synthesis methods which differ in the number of stages and in raw materials used, and are associated with the major identified impurities A, E and G, according to the E
Externí odkaz: https://doaj.org/article/91c8f33969ae4708ae78211ec177e7c1
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