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Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.
Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Sukhanova NV, Minzhenkova ME, Shilova NV, Latyshova AA, Ginter EK, Kutsev SI, Zinchenko RA. Vasilyeva TA, et al. Among authors: shilova nv. Genes (Basel). 2023 Nov 4;14(11):2041. doi: 10.3390/genes14112041. Genes (Basel). 2023. PMID: 38002984 Free PMC article.
[Genetic and clinical characteristics of 22q11.2 deletion syndrome].
Kozlova IuO, Zabnenkova VV, Shilova NV, Min'zhenkova ME, Antonenko VG, Kotlukova NP, Simonova LV, Kazanceva IA, Levchenko EG, Bombardirova TD, Zolotukhina TV, Poliakov AV. Kozlova IuO, et al. Among authors: shilova nv. Genetika. 2014 May;50(5):602-10. Genetika. 2014. PMID: 25715476 Russian.
Induced pluripotent stem cell line, ICAGi001-A, derived from human skin fibroblasts of a patient with 2p25.3 deletion and 2p25.3-p23.3 inverted duplication.
Khabarova AA, Pristyazhnyuk IE, Nikitina TV, Gayner TA, Torkhova NB, Skryabin NA, Kashevarova AA, Babushkina NP, Markova ZG, Minzhenkova ME, Nazarenko LP, Shilova NV, Shorina AR, Lebedev IN, Serov OL. Khabarova AA, et al. Among authors: shilova nv. Stem Cell Res. 2019 Jan;34:101377. doi: 10.1016/j.scr.2018.101377. Epub 2018 Dec 18. Stem Cell Res. 2019. PMID: 30616144 Free article.
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.
Vasilyeva TA, Marakhonov AV, Minzhenkova ME, Markova ZG, Petrova NV, Sukhanova NV, Koshkin PA, Pyankov DV, Kanivets IV, Korostelev SA, Krynskaya IA, Shilova NV, Kutsev SI, Kadyshev VV, Zinchenko RA. Vasilyeva TA, et al. Among authors: shilova nv. BMC Med Genomics. 2020 Sep 18;13(Suppl 8):130. doi: 10.1186/s12920-020-00790-1. BMC Med Genomics. 2020. PMID: 32948199 Free PMC article.
Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.
Tsygankova P, Bychkov I, Minzhenkova M, Pechatnikova N, Bessonova L, Buyanova G, Naumchik I, Beskorovainiy N, Tabakov V, Itkis Y, Shilova N, Zakharova E. Tsygankova P, et al. Mol Genet Metab Rep. 2022 Jun 23;32:100889. doi: 10.1016/j.ymgmr.2022.100889. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35782291 Free PMC article.
Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.
Marakhonov AV, Vasilyeva TA, Minzhenkova ME, Sukhanova NV, Sparber PA, Andreeva NA, Teleshova MV, Baybagisova FK, Shilova NV, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. Among authors: shilova nv. Int J Mol Sci. 2023 Nov 29;24(23):16923. doi: 10.3390/ijms242316923. Int J Mol Sci. 2023. PMID: 38069245 Free PMC article.
69 results