Ekaterina N Tolmacheva
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Explore the profile of Ekaterina N Tolmacheva including associated specialties, affiliations and a list of published articles.
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14
Citations
125
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Recent Articles
1.
Tolmacheva E, Kashevarova A, Fonova E, Salyukova O, Seitova G, Nazarenko L, et al.
Mol Cytogenet
. 2025 Feb;
18(1):3.
PMID: 39985054
Background: The X chromosome is enriched with genes related to brain development, and the hemizygous state of these genes in men causes some difficulties in the clinical interpretation of copy...
2.
Essers R, Lebedev I, Kurg A, Fonova E, Stevens S, Koeck R, et al.
Nat Med
. 2023 Nov;
29(12):3233-3242.
PMID: 37996709
Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence of these abnormalities and the allocation of (ab)normal cells in embryonic and placental lineages during intrauterine development...
3.
Fonova E, Tolmacheva E, Kashevarova A, Sazhenova E, Nikitina T, Lopatkina M, et al.
Cytogenet Genome Res
. 2022 May;
162(3):97-108.
PMID: 35636401
Skewed X-chromosome inactivation (sXCI) can be a marker of lethal genetic variants on the X chromosome in a woman since sXCI modifies the pathological phenotype. The aim of this study...
4.
Tolmacheva E, Vasilyev S, Nikitina T, Lytkina E, Sazhenova E, Zhigalina D, et al.
Sci Rep
. 2022 Jan;
12(1):1166.
PMID: 35064135
The presence of an extra chromosome in the embryo karyotype often dramatically affects the fate of pregnancy. Trisomy 16 is the most common aneuploidy in first-trimester miscarriages. The present study...
5.
Sazhenova E, Nikitina T, Vasilyev S, Tolmacheva E, Vasilyeva O, Markov A, et al.
J Assist Reprod Genet
. 2021 Sep;
38(11):2893-2908.
PMID: 34554362
Purpose: Comparative analysis of multilocus imprinting disturbances (MLIDs) in miscarriages from women with sporadic (SPL) and recurrent pregnancy loss (RPL) and identification of variants in the imprinting control gene NLRP7...
6.
Vasilyev S, Markov A, Vasilyeva O, Tolmacheva E, Zatula L, Sharysh D, et al.
MethodsX
. 2021 Aug;
8:101445.
PMID: 34434857
The methylation index of the LINE-1 promoter is one of the most commonly used markers for assessing the global level of genome methylation in various human cells and tissues. We...
7.
Vasilyev S, Skryabin N, Kashevarova A, Tolmacheva E, Savchenko R, Vasilyeva O, et al.
Cytogenet Genome Res
. 2021 Apr;
161(3-4):105-119.
PMID: 33849037
Most copy number variations (CNVs) in the human genome display incomplete penetrance with unknown underlying mechanisms. One such mechanism may be epigenetic modification, particularly DNA methylation. The IMMP2L gene is...
8.
Vasilyev S, Tolmacheva E, Vasilyeva O, Markov A, Zhigalina D, Zatula L, et al.
J Assist Reprod Genet
. 2020 Nov;
38(1):139-149.
PMID: 33170392
Purpose: High frequency of aneuploidy in meiosis and cleavage stage coincides with waves of epigenetic genome reprogramming that may indicate a possible association between epigenetic mechanisms and aneuploidy occurrence. This...
9.
Tolmacheva E, Vasilyev S, Lebedev I
Genes (Basel)
. 2020 Sep;
11(9).
PMID: 32957536
Genome stability is an integral feature of all living organisms. Aneuploidy is the most common cause of fetal death in humans. The timing of bursts in increased aneuploidy frequency coincides...
10.
Tolmacheva E, Kashevarova A, Nazarenko L, Minaycheva L, Skryabin N, Lopatkina M, et al.
Cytogenet Genome Res
. 2020 Jun;
160(5):245-254.
PMID: 32485717
Chromosomal microdeletion syndromes present with a wide spectrum of clinical phenotypes that depend on the size and gene content of the affected region. In a healthy carrier, epigenetic mechanisms may...