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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: savchenko rr. 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.
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: savchenko rr. Mol Cytogenet. 2018 Apr 27;11:26. doi: 10.1186/s13039-018-0375-3. eCollection 2018. Mol Cytogenet. 2018. PMID: 29736186 Free PMC article.
Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.
Zhigalina DI, Malakhova AA, Vasilyeva OY, Grigor'eva EV, Sivtsev AA, Kolesnikov NA, Lopatkina ME, Savchenko RR, Zhalsanova IZ, Postrigan' AE, Zarubin AA, Nikitina TV, Bueverov AO, Bogomolov PO, Zakian SM, Skryabin NA. Zhigalina DI, et al. Among authors: savchenko rr. Stem Cell Res. 2021 Dec;57:102556. doi: 10.1016/j.scr.2021.102556. Epub 2021 Sep 30. Stem Cell Res. 2021. PMID: 34736038 Free article.