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Page 1
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: kashirskaya 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. Among authors: kashirskaya ny. 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. Among authors: kashirskaya ny. 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.
The future of cystic fibrosis care: a global perspective.
Bell SC, Mall MA, Gutierrez H, Macek M, Madge S, Davies JC, Burgel PR, Tullis E, Castaños C, Castellani C, Byrnes CA, Cathcart F, Chotirmall SH, Cosgriff R, Eichler I, Fajac I, Goss CH, Drevinek P, Farrell PM, Gravelle AM, Havermans T, Mayer-Hamblett N, Kashirskaya N, Kerem E, Mathew JL, McKone EF, Naehrlich L, Nasr SZ, Oates GR, O'Neill C, Pypops U, Raraigh KS, Rowe SM, Southern KW, Sivam S, Stephenson AL, Zampoli M, Ratjen F. Bell SC, et al. Among authors: kashirskaya n. Lancet Respir Med. 2020 Jan;8(1):65-124. doi: 10.1016/S2213-2600(19)30337-6. Epub 2019 Sep 27. Lancet Respir Med. 2020. PMID: 31570318 Free PMC article. Review.
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.
Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care.
Sherman V, Kondratyeva E, Kashirskaya N, Voronkova A, Nikonova V, Zhekaite E, Kutsev S. Sherman V, et al. Among authors: kashirskaya n. Int J Neonatal Screen. 2020 Apr 14;6(2):34. doi: 10.3390/ijns6020034. eCollection 2020 Jun. Int J Neonatal Screen. 2020. PMID: 33073029 Free PMC article.
Ursodeoxycholic acid and liver disease associated with cystic fibrosis: A multicenter cohort study.
Colombo C, Alicandro G, Oliver M, Lewindon PJ, Ramm GA, Ooi CY, Alghisi F, Kashirskaya N, Kondratyeva E, Corti F, Padoan R, Asherova I, Evans H, de Monestrol I, Strandvik B, Lindblad A; CF UDCA study group. Colombo C, et al. Among authors: kashirskaya n. J Cyst Fibros. 2022 Mar;21(2):220-226. doi: 10.1016/j.jcf.2021.03.014. Epub 2021 Apr 2. J Cyst Fibros. 2022. PMID: 33814323 Free article.
Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020.
Naehrlich L, Orenti A, Dunlevy F, Kasmi I, Harutyunyan S, Pfleger A, Keegan S, Daneau G, Petrova G, Tješić-Drinković D, Yiallouros P, Bilkova A, Olesen HV, Burgel PR, Parulava T, Diamantea F, Párniczky A, McKone EF, Mei-Zahav M, Salvatore M, Colombo C, Aleksejeva E, Malakauskas K, Schlesser M, Fustik S, Turcu O, Zomer-van Ommen D, Wathne AS, Woźniacki Ł, Pereira L, Pop L, Kashirskaya N, Rodić M, Kayserova H, Krivecs U, Mondejar-Lopez P, de Monestrol I, Dogru D, Makukh H, Cosgriff R, van Koningsbruggen-Rietschel S, Jung A; European Cystic Fibrosis COVID project group. Naehrlich L, et al. Among authors: kashirskaya n. J Cyst Fibros. 2021 Jul;20(4):566-577. doi: 10.1016/j.jcf.2021.03.017. Epub 2021 Apr 18. J Cyst Fibros. 2021. PMID: 34016559 Free PMC article.
47 results