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A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.
Karamysheva TV, Lebedev IN, Minaycheva LI, Nazarenko LP, Kashevarova AA, Fedotov DA, Skryabin NA, Lopatkina ME, Cheremnykh AD, Fonova EA, Nikitina TV, Sazhenova EA, Skleimova MM, Kolesnikov NA, Drozdov GV, Yakovleva YS, Seitova GN, Orishchenko KE, Rubtsov NB. Karamysheva TV, et al. Among authors: skryabin na. Front Genet. 2024 Mar 11;15:1331066. doi: 10.3389/fgene.2024.1331066. eCollection 2024. Front Genet. 2024. PMID: 38528911 Free PMC article.
The Precise Breakpoint Mapping in Paracentric Inversion 10q22.2q23.3 by Comprehensive Cytogenomic Analysis, Multicolor Banding, and Single-Copy Chromosome Sequencing.
Karamysheva TV, Gayner TA, Elisaphenko EA, Trifonov VA, Zakirova EG, Orishchenko KE, Prokhorovich MA, Lopatkina ME, Skryabin NA, Lebedev IN, Rubtsov NB. Karamysheva TV, et al. Among authors: skryabin na. Biomedicines. 2022 Dec 14;10(12):3255. doi: 10.3390/biomedicines10123255. Biomedicines. 2022. PMID: 36552011 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: skryabin na. 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.
NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.
Sazhenova EA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Vasilyeva OY, Markov AV, Yuryev SY, Skryabin NA, Zarubin AA, Kolesnikov NA, Stepanov VA, Lebedev IN. Sazhenova EA, et al. Among authors: skryabin na. J Assist Reprod Genet. 2021 Nov;38(11):2893-2908. doi: 10.1007/s10815-021-02312-z. Epub 2021 Sep 23. J Assist Reprod Genet. 2021. PMID: 34554362 Free PMC 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: skryabin na. 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.
32 results