Search Results - "EFIMOVA, OLGA A"
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A View on Uterine Leiomyoma Genesis through the Prism of Genetic, Epigenetic and Cellular Heterogeneity
Published in International journal of molecular sciences (17-03-2023)“…Uterine leiomyomas (ULs), frequent benign tumours of the female reproductive tract, are associated with a range of symptoms and significant morbidity. Despite…”
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2
Environmental Epigenetics and Genome Flexibility: Focus on 5-Hydroxymethylcytosine
Published in International journal of molecular sciences (02-05-2020)“…Convincing evidence accumulated over the last decades demonstrates the crucial role of epigenetic modifications for mammalian genome regulation and its…”
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3
On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
Published in Frontiers in genetics (30-04-2019)“…In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of…”
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4
Telomere Length in Human Spermatogenic Cells as a New Potential Predictor of Clinical Outcomes in ART Treatment with Intracytoplasmic Injection of Testicular Spermatozoa
Published in International journal of molecular sciences (21-06-2023)“…Predicting the clinical outcomes of intracytoplasmic sperm injection (ICSI) cycles that use the testicular spermatozoa of azoospermic patients presents a…”
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5
Telomere Length in Metaphase Chromosomes of Human Triploid Zygotes
Published in International journal of molecular sciences (25-05-2021)“…The human lifespan is strongly influenced by telomere length (TL) which is defined in a zygote—when two highly specialised haploid cells form a new diploid…”
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Telomere Length in Chromosomally Normal and Abnormal Miscarriages and Ongoing Pregnancies and Its Association with 5-hydroxymethylcytosine Patterns
Published in International journal of molecular sciences (21-06-2021)“…The present study investigates telomere length (TL) in dividing chorionic cytotrophoblast cells from karyotypically normal and abnormal first trimester…”
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Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
Published in Genes (01-04-2023)“…We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with…”
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Cytogenomic Profile of Uterine Leiomyoma: In Vivo vs. In Vitro Comparison
Published in Biomedicines (26-11-2021)“…We performed a comparative cytogenomic analysis of cultured and uncultured uterine leiomyoma (UL) samples. The experimental approach included karyotyping,…”
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Frequency and Spectrum of MED12 Exon 2 Mutations in Multiple Versus Solitary Uterine Leiomyomas From Russian Patients
Published in International journal of gynecological pathology (01-11-2016)“…Uterine leiomyomas (ULs) are common benign tumors affecting women of different ethnicities. A large proportion of UL has mutations in MED12. Multiple and…”
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10
Placental microRNA expression in pregnancies complicated by superimposed pre-eclampsia on chronic hypertension
Published in Molecular medicine reports (01-07-2016)“…Pre-eclampsia (PE) is a complication of pregnancy that affects 5-8% of women after 20 weeks of gestation. It is usually diagnosed based on the de novo onset of…”
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Re-Examination of PGT-A Detected Genetic Pathology in Compartments of Human Blastocysts: A Series of 23 Cases
Published in Journal of clinical medicine (03-06-2024)“…In recent years, preimplantation genetic testing for aneuploidies (PGT-A) has become widespread in assisted reproduction. However, contrary to expectations,…”
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12
Genome-wide 5-hydroxymethylcytosine patterns in human spermatogenesis are associated with semen quality
Published in Oncotarget (24-10-2017)“…We performed immunofluorescent analysis of DNA hydroxymethylation and methylation in human testicular spermatogenic cells from azoospermic patients and…”
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13
Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes
Published in Molecular medicine reports (01-12-2019)“…The present study reports on the frequency and the spectrum of genetic variants causative of monogenic diabetes in Russian children with non‑type 1 diabetes…”
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14
Case of chromothripsis in a large solitary non-recurrent uterine leiomyoma
Published in European journal of obstetrics & gynecology and reproductive biology (01-12-2017)Get full text
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15
Genomic distribution of 5‐formylcytosine and 5‐carboxylcytosine in human preimplantation embryos
Published in Molecular reproduction and development (01-12-2018)Get full text
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16
Catechol-O-methyltransferase Val158Met polymorphism is associated with increased risk of multiple uterine leiomyomas either positive or negative for MED12 exon 2 mutations
Published in Journal of clinical pathology (01-03-2017)“…To study the possible association of catechol-O-methyltransferase ( Val158Met polymorphism with multiple and solitary uterine leiomyomas (ULs) and to check…”
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17
Chromosome hydroxymethylation patterns in human zygotes and cleavage-stage embryos
Published in Reproduction (Cambridge, England) (01-03-2015)“…We report the sequential changes in 5-hydroxymethylcytosine (5hmC) patterns in the genome of human preimplantation embryos during DNA methylation…”
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Age and Serum AMH and FSH Levels as Predictors of the Number of Oocytes Retrieved from Chromosomal Translocation Carriers after Controlled Ovarian Hyperstimulation: Applicability and Limitations
Published in Genes (25-12-2020)“…We studied the impact of age and the serum anti-Müllerian hormone (AMH)/follicle-stimulating hormone (FSH) levels on the number of cumulus-oocyte complexes…”
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19
A comparative cytogenetic study of miscarriages after IVF and natural conception in women aged under and over 35 years
Published in Journal of assisted reproduction and genetics (01-02-2014)“…Purpose To compare the frequency and the spectrum of karyotype abnormality in the first trimester miscarriages in women aged under and over 35 years, who…”
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Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities
Published in Frontiers in genetics (20-11-2019)“…We report on the phenotype and the reproductive history of an adult female patient with an unbalanced karyotype: 8p23 and 18p11.3 terminal deletions and 8p22…”
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