Search Results - "Tolmacheva, E N"

Comparative cytogenetics of anembryonic pregnancies and missed abortions in human by Nikitina, T V, Sazhenova, E A, Tolmacheva, E N, Sukhanova, N N, Vasilyev, S A, Lebedev, I N

“…Miscarriage is an important problem in human reproduction, affecting 10-15 % of clinically recognized pregnancies. The cases of embryonic death can be divided…”
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Aberrant methylation of placental development genes in chorionic villi of spontaneous abortions with trisomy 16 by Vasilyeva, O Yu, Tolmacheva, E N, Dmitriev, A E, Darkova, Ya A, Sazhenova, E A, Nikitina, T V, Lebedev, I N, Vasilyev, S A

“…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…”
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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 by Demeneva, V V, Tolmacheva, E N, Nikitina, T V, Sazhenova, E A, Yuriev, S Yu, Makhmutkhodzhaev, A Sh, Zuev, A S, Filatova, S A, Dmitriev, A E, Darkova, Ya A, Nazarenko, L P, Lebedev, I N, Vasilyev, S A

“…The placenta has a unique hypomethylated genome. Due to this feature of the placenta, there is a potential possibility of using regulatory elements derived…”
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Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss by Nikitina, T. V., Sazhenova, E. A., Zhigalina, D. I., Tolmacheva, E. N., Sukhanova, N. N., Lebedev, I. N.

“…Purpose To study the contribution of embryo chromosomal abnormalities in primary and secondary recurrent pregnancy loss (RPL) and to analyze the recurrence of…”
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Methylation status of LINE-1 retrotransposon in chromosomal mosaicism during early stages of human embryonic development by Vasilyev, S. A., Tolmacheva, E. N., Kashevarova, A. A., Sazhenova, E. A., Lebedev, I. N.

“…Early stages of human embryonic development are characterized by the spatiotemporal coincidence of events of total epigenetic genome reprogramming and elevated…”
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Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report by Lyukshina, N. G., Sharkov, A. A., Tolmacheva, E. N.

“…Developmental encephalopathy with epilepsy or epileptic encephalopathy, associated with a heterozygous mutation in the IRF2BPL gene, is a rare severe disorder…”
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Generation of Induced Pluripotent Stem Cell Line iTAF15Xsk4 from Fibroblasts of a Patient with Microdeletion at Xq24 by Pristyazhnyuk, I. E., Meshcheryakov, N. I., Nikitina, T. V., Kashevarova, A. A., Fedotov, D. A., Tolmacheva, E. N., Minaycheva, L. I., Nazarenko, L. P., Lebedev, I. N., Menzorov, A. G.

“…Differentiation of induced pluripotent stem cells (iPSCs) from patients and healthy donors allows in vitro study of genetic disorders. The authors have…”
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Dynamics of aberrant methylation of functional groups of genes in progression of breast cancer by Skryabin, N. A., Tolmacheva, E. N., Lebedev, I. N., Zavyalova, M. V., Slonimskaya, E. M., Cherdyntseva, N. V.

“…For the first time, the epigenetic status of breast benign proliferative processes, malignant breast tumors, and metastases to regional lymph nodes has been…”
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DNA methylation profile in human placental tissues by Tolmacheva, E. N., Kashevarova, A. A., Skryabin, N. A., Lebedev, I. N.

“…For the first time, DNA methylation patterns in the human cytotrophoblast and the extraembryonic mesoderm were determined using a genome-wide Infinium…”
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Estimation of the mehylation status of the promoter region of the cell cycle control gene P14ARF in placental tissues of spontaneous abortions with chromosomal mosaicism by Kashevarova, A. A, Tolmacheva, E. N, Sukhanova, N. N, Sazhenova, E. A, Lebedev, I. N

“…The methylation status of the promoter region of the cell cycle gene P14ARF was studied in the extraembryonic mesoderm and in the cytotrophoblast of 46 human…”
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Epigenetic inactivation of the RB1 gene as a factor of genomic instability: A possible contribution to etiology of chromosomal mosaicism during human embryo development by Tolmacheva, E. N, Kashevarova, A. A, Sukhanova, N. N, Sazhenova, E. A, Lebedev, I. N

“…The methylation status of the cell cycle control gene RB1 has been studied in placental tissues of spontaneous abortions of the first trimester of pregnancy…”
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Epigenetic effects of trisomy 16 in human placenta by Tolmacheva, E. N., Kashevarova, A. A., Skryabin, N. A., Lebedev, I. N.

“…The methylation profiles of the placental tissues of human embryos with normal karyotype and trisomy 16 were compared using an Infinium HumanMethylation27…”
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Methylation status of line-1 retrotransposon in chromosomal mosaicism during the early stages of human embryonic development by Vasil'ev, S A, Tolmacheva, E N, Kashevarova, A A, Sazhenova, E A, Lebedev, I N

“…Early stages of human embryonic development are characterized by spatio-temporal coincidence of events of total epigenetic genome reprogramming and elevated…”
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Epigenetic regulation and role of LINE-1 retrotransposon in embryogenesis by Vasilyev, S. A., Tolmacheva, E. N., Lebedev, I. N.

“…LINE-1 retrotransposon is the most common mobile genetic element in the genomes of various mammals, including humans. Its genes are represented by the greatest…”
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Skewed X-chromosome inactivation in human embryos with mosaic trisomy 16 by Tolmacheva, E. N., Kashevarova, A. A., Sukhanova, N. N., Kharkov, V. N., Lebedev, I. N.

“…The sex ratio and X-chromosome inactivation were analyzed in placental tissues of human spontaneous abortuses with pure and mosaic forms of chromosome 16…”
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Epigenetic status of cell cycle regulation genes in the placenta of human embryos with chromosomal mosaicism by Kashevarova, A. A., Tolmacheva, E. N., Sazhenova, E. A., Sukhanova, N. N., Lebedev, I. N.

“…Epigenetic mechanisms of cell cycle regulation providing for maintenance of genome stability and precise transmission of hereditary information to the daughter…”
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Clinical and genetic analysis of idiopathic intellectual disability based on array comparative genomic hybridization by Kashevarova, A A, Skryabin, N A, Cheremnykh, A D, Tolmacheva, E N, Sazhenova, E A, Salyukova, O A, Chechetkina, N N, Didenko, L I, Sukhanova, N N, Yakovleva, Yu S, Torkhova, N B, Nazarenko, L P, Magini, P, Graziano, C, Romeo, G, Lebedev, I N

“…In this study authors searched for chromosomal aberrations in 71 children with developmental delay or idiopathic mental retardation using Human Genome CGH…”
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X-Linked CNV in Pathogenetics of Intellectual Disability by Tolmacheva, E. N., Fonova, E. A., Lebedev, I. N.

“…The review considers monogenic and chromosomal mutations associated with X-linked intellectual disability. Peculiarities of the development of the clinical…”
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Estimation of the methylation status of the promoter region of the cell cycle gene P14ARF in placental tissues of spontaneous abortuses with chromosomal mosaicism by Kashevarova, A A, Tolmacheva, E N, Sukhanova, N N, Sazhenova, E A, Lebedev, I N

“…The methylation status of the promoter region of the cell cycle gene P14ARF was studied in the extraembryonic mesoderm and in the chorion cytotrophoblast of 46…”
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Epigenetic inactivation of the RB1 gene as a factor of genomic instability: a possible contribution to etiology of chromosomal mosaicism during human embryo development by Tolmacheva, E N, Kashevarova, A A, Sukhanova, N N, Sazhenova, E A, Lebedev, I N

“…The methylation status of the cell cycle control gene RB1 has been studied in placental tissues of spontaneous abortions of the first trimester of pregnancy…”
Get more information