Search Results - "Nikitina, Tatyana V"
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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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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
Published in Nature medicine (01-12-2023)“…Pregnancy loss is often caused by chromosomal abnormalities of the conceptus. The prevalence of these abnormalities and the allocation of (ab)normal cells in…”
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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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4
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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Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene
Published in Molecular neurobiology (01-08-2018)“…Copy number variations (CNVs) of the human CNTN6 gene caused by megabase-scale microdeletions or microduplications in the 3p26.3 region are often the cause of…”
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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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Recent insights into regulation of transcription by RNA polymerase III and the cellular functions of its transcripts
Published in Biological chemistry (01-05-2011)“…The products of transcription by the multisubunit enzyme RNA polymerase III (Pol III), such as 5S rRNA, tRNAs, U6 snRNA, are important for cell growth,…”
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Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis
Published in European journal of human genetics : EJHG (01-07-2004)“…Cytogenetic analysis of reproductive wastage is an important stage in understanding the genetic background of early embryogenesis. The results of conventional…”
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A mathematical model for evaluation of maternal cell contamination in cultured cells from spontaneous abortions: significance for cytogenetic analysis of prenatal selection factors
Published in Fertility and sterility (01-04-2005)“…To develop a mathematical model for more precise estimation of the incidence of chromosomal abnormalities and the sex ratio among spontaneous abortions masked…”
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