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Page 1
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: lopatkina me. Mol Cytogenet. 2018 Apr 27;11:26. doi: 10.1186/s13039-018-0375-3. eCollection 2018. Mol Cytogenet. 2018. PMID: 29736186 Free PMC article.
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.
Kashevarova AA, Nazarenko LP, Skryabin NA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Lopatkina ME, Salyukova OA, Chechetkina NN, Vorotelyak EA, Kalabusheva EP, Fishman VS, Kzhyshkowska J, Graziano C, Magini P, Romeo G, Lebedev IN. Kashevarova AA, et al. Among authors: lopatkina me. Am J Med Genet A. 2018 Nov;176(11):2395-2403. doi: 10.1002/ajmg.a.40478. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244536
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: lopatkina me. 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: lopatkina me. Biomedicines. 2022 Dec 14;10(12):3255. doi: 10.3390/biomedicines10123255. Biomedicines. 2022. PMID: 36552011 Free PMC 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: lopatkina me. 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.
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: lopatkina me. 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.
Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.
Lebedev IN, Karamysheva TV, Elisaphenko EA, Makunin AI, Zhigalina DI, Lopatkina ME, Drozdov GV, Cheremnykh AD, Torkhova NB, Seitova GN, Vasilyev SA, Kashevarova AA, Nazarenko LP, Rubtsov NB. Lebedev IN, et al. Among authors: lopatkina me. Biomedicines. 2021 Aug 17;9(8):1030. doi: 10.3390/biomedicines9081030. Biomedicines. 2021. PMID: 34440234 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: 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