Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability AA Kashevarova, LP Nazarenko, S Schultz-Pedersen, NA Skryabin, ... Molecular Cytogenetics 7, 1-10, 2014 | 104 | 2014 |
Array CGH analysis of a cohort of Russian patients with intellectual disability AA Kashevarova, LP Nazarenko, NA Skryabin, OA Salyukova, ... Gene 536 (1), 145-150, 2014 | 67 | 2014 |
Genomic structural variations for cardiovascular and metabolic comorbidity MS Nazarenko, AA Sleptcov, IN Lebedev, NA Skryabin, AV Markov, ... Scientific reports 7 (1), 41268, 2017 | 64 | 2017 |
Karyotype of the blastocoel fluid demonstrates low concordance with both trophectoderm and inner cell mass O Tšuiko, DI Zhigalina, T Jatsenko, NA Skryabin, OR Kanbekova, ... Fertility and sterility 109 (6), 1127-1134. e1, 2018 | 55 | 2018 |
Clinically relevant morphological structures in breast cancer represent transcriptionally distinct tumor cell populations with varied degrees of epithelial-mesenchymal … EV Denisov, NA Skryabin, TS Gerashchenko, LA Tashireva, J Wilhelm, ... Oncotarget 8 (37), 61163, 2017 | 53 | 2017 |
Phenotypic Drift as a Cause for Intratumoral Morphological Heterogeneity of Invasive Ductal Breast Carcinoma Not Otherwise Specified MV Zavyalova, EV Denisov, LA Tashireva, TS Gerashchenko, ... BioResearch Open Access, 2013 | 48 | 2013 |
Comparative cytogenetic analysis of spontaneous abortions in recurrent and sporadic pregnancy losses TV Nikitina, EA Sazhenova, EN Tolmacheva, NN Sukhanova, ... Biomedicine hub 1 (1), 1-11, 2016 | 46 | 2016 |
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 MM Gridina, NM Matveeva, VS Fishman, AG Menzorov, HA Kizilova, ... Molecular Neurobiology 55, 6533-6546, 2018 | 32 | 2018 |
Compound phenotype in a girl with r (22), concomitant microdeletion 22q13. 32-q13. 33 and mosaic monosomy 22 AA Kashevarova, EO Belyaeva, AM Nikonov, OV Plotnikova, NA Skryabin, ... Molecular Cytogenetics 11, 1-9, 2018 | 22 | 2018 |
Molecular karyotyping of cell-free DNA from blastocoele fluid as a basis for noninvasive preimplantation genetic screening of aneuploidy NA Skryabin, IN Lebedev, VG Artukhova, DI Zhigalina, IA Stepanov, ... Russian journal of genetics 51, 1123-1128, 2015 | 22* | 2015 |
A de novo microtriplication at 4q21. 21‐q21. 22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech IN Lebedev, LP Nazarenko, NA Skryabin, NP Babushkina, ... American Journal of Medical Genetics Part A 170 (8), 2089-2096, 2016 | 19 | 2016 |
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability AA Kashevarova, LP Nazarenko, NA Skryabin, TV Nikitina, SA Vasilyev, ... American Journal of Medical Genetics Part A 176 (11), 2395-2403, 2018 | 18 | 2018 |
Матричная сравнительная геномная гибридизация (Array-CGH) в диагностике хромосомного дисбаланса и CNV-полиморфизма при анэмбрионии ИН Лебедев, АА Кашеварова, НА Скрябин, ТВ Никитина, ... Журнал акушерства и женских болезней 62 (2), 117-125, 2013 | 18* | 2013 |
Epigenetic effects of trisomy 16 in human placenta EN Tolmacheva, AA Kashevarova, NA Skryabin, IN Lebedev Molecular biology 47, 373-381, 2013 | 17 | 2013 |
Differential DNA methylation of the IMMP2L gene in families with maternally inherited 7q31. 1 microdeletions is associated with intellectual disability and developmental delay SA Vasilyev, NA Skryabin, AA Kashevarova, EN Tolmacheva, ... Cytogenetic and Genome Research 161 (3-4), 105-119, 2021 | 16 | 2021 |
Dynamics of aberrant methylation of functional groups of genes in progression of breast cancer NA Skryabin, EN Tolmacheva, IN Lebedev, MV Zavyalova, ... Molecular Biology 47, 267-274, 2013 | 16* | 2013 |
Relationship between morphological and cytogenetic heterogeneity in invasive micropapillary carcinoma of the breast: a report of one case EV Denisov, NA Skryabin, SA Vasilyev, TS Gerashchenko, IN Lebedev, ... Journal of Clinical Pathology 68 (9), 758-762, 2015 | 15 | 2015 |
ВАРИАЦИИ ЧИСЛА ПОВТОРОВ (CNV) В ГЕНОМЕ ПАЦИЕНТОВ С ИДИОПАТИЧЕСКОЙ УМСТВЕННОЙ ОТСТАЛОСТЬЮ АА Кашеварова, НА Скрябин, АД Черемных, ЕН Толмачёва, ... ХРОСОМОМА 2012 Новосибирск, 104, 2012 | 14* | 2012 |
Delineation of clinical manifestations of the inherited Xq24 microdeletion segregating with sXCI in mothers: two novel cases with distinct phenotypes ranging from UBE2A … EN Tolmacheva, AA Kashevarova, LP Nazarenko, LI Minaycheva, ... Cytogenetic and Genome Research 160 (5), 245-254, 2020 | 13 | 2020 |
Эпигенетический статус импринтированных генов в плаценте при привычном невынашивании беременности ЕА Саженова, ТВ Никитина, НА Скрябин, ЛИ Минайчева, ТВ Иванова, ... Генетика 53 (3), 364-377, 2017 | 13 | 2017 |