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Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.
Kashevarova AA, Belyaeva EO, Nikonov AM, Plotnikova OV, Skryabin NA, Nikitina TV, Vasilyev SA, Yakovleva YS, Babushkina NP, Tolmacheva EN, Lopatkina ME, Savchenko RR, Nazarenko LP, Lebedev IN. Kashevarova AA, et al. Among authors: belyaeva eo. Mol Cytogenet. 2018 Apr 27;11:26. doi: 10.1186/s13039-018-0375-3. eCollection 2018. Mol Cytogenet. 2018. PMID: 29736186 Free PMC article.
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: belyaeva eo. Cytogenet Genome Res. 2020;160(5):245-254. doi: 10.1159/000508050. Epub 2020 May 30. Cytogenet Genome Res. 2020. PMID: 32485717
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: belyaeva eo. 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.
Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4.
Gridina MM, Nurislamov AR, Minina JM, Lopatkina ME, Drozdov GV, Vasilyev SA, Minaycheva LI, Belyaeva EO, Nikitina TV, Kashevarova AA, Lebedev IN, Karamysheva TV, Rubtsov NB, Serov OL. Gridina MM, et al. Among authors: belyaeva eo. Stem Cell Res. 2022 May;61:102740. doi: 10.1016/j.scr.2022.102740. Epub 2022 Feb 28. Stem Cell Res. 2022. PMID: 35303600 Free article.