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Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.
Tolmacheva EN, Kashevarova AA, Nazarenko LP, Minaycheva LI, Skryabin NA, Lopatkina ME, Nikitina TV, Sazhenova EA, Belyaeva EO, Fonova EA, Salyukova OA, Tarabykin VS, Lebedev IN. Tolmacheva EN, et al. Among authors: lopatkina me. Cytogenet Genome Res. 2020;160(5):245-254. doi: 10.1159/000508050. Epub 2020 May 30. Cytogenet Genome Res. 2020. PMID: 32485717
Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13.
Nikitina TV, Menzorov AG, Kashevarova AA, Gridina MM, Khabarova AA, Yakovleva YS, Lopatkina ME, Pristyazhnyuk IE, Vasilyev SA, Serov OL, Lebedev IN. Nikitina TV, et al. Among authors: lopatkina me. Stem Cell Res. 2018 Dec;33:260-264. doi: 10.1016/j.scr.2018.11.009. Epub 2018 Nov 20. Stem Cell Res. 2018. PMID: 30500678 Free article.
Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability.
Shnaider TA, Pristyazhnyuk IE, Menzorov AG, Matveeva NM, Nikitina TV, Khabarova AA, Skryabin NA, Kashevarova AA, Lopatkina ME, Nazarenko LP, Lebedev IN, Serov OL. Shnaider TA, et al. Among authors: lopatkina me. Stem Cell Res. 2019 Dec;41:101591. doi: 10.1016/j.scr.2019.101591. Epub 2019 Oct 21. Stem Cell Res. 2019. PMID: 31678775 Free article.
Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,-8 mosaicism.
Gridina MM, Nikitina TV, Orlova PA, Minina JM, Kashevarova AA, Yakovleva YS, Lopatkina ME, Vasilyev SA, Fedotov DA, Mikhailik LI, Nazarenko LP, Lebedev IN, Serov OL. Gridina MM, et al. Among authors: lopatkina me. Stem Cell Res. 2020 Dec;49:102024. doi: 10.1016/j.scr.2020.102024. Epub 2020 Oct 2. Stem Cell Res. 2020. PMID: 33070101 Free article.
Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay.
Vasilyev SA, Skryabin NA, Kashevarova AA, Tolmacheva EN, Savchenko RR, Vasilyeva OY, Lopatkina ME, Zarubin AA, Fishman VS, Belyaeva EO, Filippova MO, Shorina AR, Maslennikov AB, Shestovskikh OL, Gayner TA, Čulić V, Vulić R, Nazarenko LP, Lebedev IN. Vasilyev SA, et al. Among authors: lopatkina me. Cytogenet Genome Res. 2021;161(3-4):105-119. doi: 10.1159/000514491. Epub 2021 Apr 13. Cytogenet Genome Res. 2021. PMID: 33849037 Free article.
20 results