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 | 16 | 2020 |
Дневные чешуекрылые (Insecta, Lepidoptera: Hesperioidea, Papilionoidea) Аяно-Майского района Хабаровского края ЕВ Новомодный, ЕА Фонова Амурский зоологический журнал 2 (4), 322-337, 2010 | 10 | 2010 |
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss R Essers, IN Lebedev, A Kurg, EA Fonova, SJC Stevens, RM Koeck, ... Nature Medicine 29 (12), 3233-3242, 2023 | 6 | 2023 |
Butterflies (Insecta, Lepidoptera: Hesperioidea, Papilionoidea) from the Ayano-Maiskii District of Khabarovskii Krai Province EV Novomodnyi, EA Fonova Amurian zoological journal 2 (4), 322-337, 2010 | 6 | 2010 |
46, XY, r (8)/45, XY,− 8 mosaicism as a possible mechanism of the imprinted Birk-Barel syndrome: A case study AA Kashevarova, TV Nikitina, LI Mikhailik, EO Belyaeva, SA Vasilyev, ... Genes 11 (12), 1473, 2020 | 4 | 2020 |
X-linked CNV in pathogenetics of intellectual disability EN Tolmacheva, EA Fonova, IN Lebedev Russian Journal of Genetics 58 (10), 1193-1207, 2022 | 2 | 2022 |
Skewed X-chromosome inactivation as a possible marker of X-linked CNV in women with pregnancy loss EA Fonova, EN Tolmacheva, AA Kashevarova, EA Sazhenova, ... Cytogenetic and Genome Research 162 (3), 97-108, 2022 | 2 | 2022 |
Modifier genes as a cause of Wilson–Konovalov disease clinical polymorphism AE Postrigan, IZ Zhalsanova, EA Fonova, NA Skryabin Russian Journal of Genetics 57, 522-532, 2021 | 2 | 2021 |
Гены-модификаторы как причина клинического полиморфизма болезни Вильсона–Коновалова АЕ Постригань, ИЖ Жалсанова, ЕА Фонова, НА Скрябин Генетика 57 (5), 516-527, 2021 | 2 | 2021 |
Epigenetic modifications of the X chromosome in families with miscarriage EN Tolmacheva, EA Sazhenova, TV Nikitina, EA Fonova, ME Lopatkina, ... Medical Genetics 19 (11), 81-82, 2020 | 2 | 2020 |
Эпигенетические модификации Х-хромосомы в семьях с невынашиванием беременности ЕН Толмачева, ЕА Саженова, ТВ Никитина, ЕА Фонова, МЕ Лопаткина, ... Медицинская генетика 19 (11), 81-82, 2020 | 2 | 2020 |
Эпигенетическая модификация Х-сцепленных CNV в норме и патологии ЕН Толмачёва, АА Кашеварова, ЛП Назаренко, НА Скрябин, ... Медицинская генетика 17 (11), 29-33, 2018 | 2 | 2018 |
The ATOX1 Gene Role in Copper Metabolism and the Pathogenesis of Copper-Induced Diseases IZ Zhalsanova, EA Fonova, DI Zhigalina, NA Skryabin Russian Journal of Genetics 59 (3), 242-250, 2023 | 1 | 2023 |
Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing. AA Sivtsev, IZ Zhalsanova, AE Postrigan, EA Fonova, OY Vasilyeva, ... Klinicheskaia Laboratornaia Diagnostika 67 (4), 250-256, 2022 | 1 | 2022 |
Clinical effects of single-gene duplication of Xp11. 4 involving the TSPAN7 gene EN Tolmacheva, AA Kashevarova, EO Belyaeva, OA Salyukova, ... Medical Genetics 20 (9), 45-47, 2021 | 1 | 2021 |
Х-сцепленные CNV и асимметричная инактивация Х-хромосомы ЕА Фонова, ЕН Толмачева, АА Кашеварова, МЕ Лопаткина, ... Медицинская генетика 19 (3), 19-21, 2020 | 1 | 2020 |
Current aspects and approaches to molecular diagnostics of hereditary neuromuscular diseases EA Fonova, IZ Zhalsanova, NA Skryabin RUDN Journal of Medicine 28 (2), 282-292, 2024 | | 2024 |
A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13. 1-p12. 1 duplication TV Karamysheva, IN Lebedev, LI Minaycheva, LP Nazarenko, ... Frontiers in Genetics 15, 1331066, 2024 | | 2024 |
The nature and prevalence of chromosomal dynamics in early spontaneous pregnancy loss R Essers, I Lebedev, A Kurg, E Fonova, S Stevens, U von Rango, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 24-25, 2024 | | 2024 |
The level of methylation of the LINE-1 retrotransposon subfamilies in the placenta of the first trimester of pregnancy V Demeneva, E Tolmacheva, T Nikitina, E Sazhenova, E Fonova, A Zuev, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 326-326, 2024 | | 2024 |