Search Results - "Vasilyev, Stanislav A."
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Identification of differentially methylated genes in first-trimester placentas with trisomy 16
Published in Scientific reports (21-01-2022)“…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…”
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Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing
Published in Biomedicines (17-08-2021)“…Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic…”
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Method of targeted bisulfite massive parallel sequencing of the human LINE-1 retrotransposon promoter
Published in MethodsX (01-01-2021)“…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…”
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Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22
Published in Molecular cytogenetics (27-04-2018)“…Ring chromosome instability may influence a patient's phenotype and challenge its interpretation. Here, we report a 4-year-old girl with a compound phenotype…”
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Aneuploidy and DNA Methylation as Mirrored Features of Early Human Embryo Development
Published in Genes (17-09-2020)“…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…”
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DNA damage response in CD133 + stem/progenitor cells from umbilical cord blood: Low level of endogenous foci and high recruitment of 53BP1
Published in International journal of radiation biology (01-04-2013)“…Abstract Purpose: Human hematopoietic stem cells (HSC) are thought to be a major target of radiation-induced leukemogenesis and also provide a relevant…”
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NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss
Published in Journal of assisted reproduction and genetics (01-11-2021)“…Purpose Comparative analysis of multilocus imprinting disturbances (MLIDs) in miscarriages from women with sporadic (SPL) and recurrent pregnancy loss (RPL)…”
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LINE-1 retrotransposon methylation in chorionic villi of first trimester miscarriages with aneuploidy
Published in Journal of assisted reproduction and genetics (01-01-2021)“…Purpose High frequency of aneuploidy in meiosis and cleavage stage coincides with waves of epigenetic genome reprogramming that may indicate a possible…”
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Abnormal methylation of PRDM16 and PTPRN2 genes in chorionic villi in miscarriage
Published in Vestnik Rossiĭskogo universiteta druzhby narodov. Serii͡a︡ Medit͡s︡ina (15-12-2023)“…Relevance. Abnormal epigenetic regulation of genes responsible for the development of the embryo and placenta is associated with many pregnancy pathologies…”
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A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability
Published in American journal of medical genetics. Part A (01-11-2018)“…The application of array‐based comparative genomic hybridization and next‐generation sequencing has identified many chromosomal microdeletions and…”
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46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study
Published in Genes (09-12-2020)“…Ring chromosome 8 (r(8)) is one of the least frequent ring chromosomes. Usually, maternal chromosome 8 forms a ring, which can be lost from cells due to…”
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Comparative Cytogenetic Analysis of Spontaneous Abortions in Recurrent and Sporadic Pregnancy Losses
Published in Biomedicine hub (27-04-2016)“…Background: The majority of miscarriages are sporadic; however, 1-5% of couples experience recurrent pregnancy loss (RPL). Approximately 50-60% of miscarriages…”
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Plakun Burial Ground: a new discovery of the well-known site based on the results of the aerial lidar and ground penetrating radar research
Published in Ufimskij arheologic̆eskij vestnik (30-09-2024)“…The article presents findings of complex interdisciplinary researches of a group of sopkas in the Plakun terrain feature. The monument is part of the…”
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