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Nikolay Skryabin
Nikolay Skryabin
Research Institute of Medical Genetics
Bestätigte E-Mail-Adresse bei medgenetics.ru
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Zitiert von
Zitiert von
Jahr
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
1042014
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
672014
Genomic structural variations for cardiovascular and metabolic comorbidity
MS Nazarenko, AA Sleptcov, IN Lebedev, NA Skryabin, AV Markov, ...
Scientific reports 7 (1), 41268, 2017
642017
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
552018
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
532017
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
482013
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
462016
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
322018
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
222018
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
192016
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
182018
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
172013
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
162021
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
152015
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
132020
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
132017
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