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583 results

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Clinical and genetic characterization of patients with cystic fibrosis and functional assessment of the chloride channel with the pathogenic variant c.831G>A (p.Trp277*), described for the first time.
Kondratyeva E, Efremova A, Melyanovskaya Y, Petrova N, Satsuk N, Bulatenko N, Bukharova T, Zodbinova A, Sherman V, Kashirskaya N, Zinchenko R, Kutsev S, Goldshtein D. Kondratyeva E, et al. Among authors: petrova n. Gene. 2020 Nov 30;761:145023. doi: 10.1016/j.gene.2020.145023. Epub 2020 Aug 3. Gene. 2020. PMID: 32758581
High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia.
Petrova NV, Kashirskaya NY, Vasilyeva TA, Timkovskaya EE, Voronkova AY, Shabalova LA, Kondratyeva EI, Sherman VD, Novoselova OG, Kapranov NI, Zinchenko RA, Ginter EK, Makaov AKh, Kerem B. Petrova NV, et al. J Cyst Fibros. 2016 May;15(3):e28-32. doi: 10.1016/j.jcf.2016.02.003. J Cyst Fibros. 2016. PMID: 26948992 Free article.
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
Petrova NV, Kashirskaya NY, Saydaeva DK, Polyakov AV, Adyan TA, Simonova OI, Gorinova YV, Kondratyeva EI, Sherman VD, Novoselova OG, Vasilyeva TA, Marakhonov AV, Macek M Jr, Ginter EK, Zinchenko RA. Petrova NV, et al. BMC Med Genet. 2019 Mar 21;20(1):44. doi: 10.1186/s12881-019-0785-z. BMC Med Genet. 2019. PMID: 30898088 Free PMC article.
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.
Zinchenko RA, Makaov AK, Marakhonov AV, Galkina VA, Kadyshev VV, El'chinova GI, Dadali EL, Mikhailova LK, Petrova NV, Petrina NE, Vasilyeva TA, Gundorova P, Polyakov AV, Alexandrova OY, Kutsev SI, Ginter EK. Zinchenko RA, et al. Int J Mol Sci. 2020 Jan 3;21(1):325. doi: 10.3390/ijms21010325. Int J Mol Sci. 2020. PMID: 31947737 Free PMC article.
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV, Kashirskaya NY, Vasilyeva TA, Kondratyeva EI, Zhekaite EK, Voronkova AY, Sherman VD, Galkina VA, Ginter EK, Kutsev SI, Marakhonov AV, Zinchenko RA. Petrova NV, et al. Genes (Basel). 2020 May 15;11(5):554. doi: 10.3390/genes11050554. Genes (Basel). 2020. PMID: 32429104 Free PMC 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. 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.
Vitamin D Status in Russian Children and Adolescents: Contribution of Genetic and Exogenous Factors.
Kondratyeva EI, Zakharova IN, Ilenkova NA, Klimov LY, Petrova NV, Zodbinova AE, Zhekaite EK, Chikunov VV, Dolbnya SV, Voronkova AY, Sherman VD, Loshkova EV, Melyanovskaya YL, Budzinskiy RM, Kuryaninova VA, Kutsev SI. Kondratyeva EI, et al. Among authors: petrova nv. Front Pediatr. 2020 Nov 19;8:583206. doi: 10.3389/fped.2020.583206. eCollection 2020. Front Pediatr. 2020. PMID: 33330279 Free PMC article.
583 results