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, Yu, Petrova, N., Satsuk, N., Bulatenko, N., Bukharova, T., Zodbinova, A., Sherman, V., Kashirskaya, N., Zinchenko, R., Kutsev, S., Goldshtein, D.
Published in Gene (30.11.2020)
Published in Gene (30.11.2020)
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Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations
Vasilyeva, T.A., Voskresenskaya, A.A., Käsmann‐Kellner, B., Khlebnikova, O.V., Pozdeyeva, N.A., Bayazutdinova, G.M., Kutsev, S.I., Ginter, E.K., Semina, E.V., Marakhonov, A.V., Zinchenko, R.A.
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Published in Clinical genetics (01.12.2017)
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Genetic Landscape of Nephropathic Cystinosis in Russian Children
Savostyanov, K V, Pushkov, A A, Shchagina, O A, Maltseva, V V, Suleymanov, E A, Zhanin, I S, Mazanova, N N, Fisenko, A P, Mishakova, P S, Polyakov, A V, Balanovska, E V, Zinchenko, R A, Tsygin, A N
Published in Frontiers in genetics (28.04.2022)
Published in Frontiers in genetics (28.04.2022)
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The intermediate outcomes of delegation of obligations of medicinal support of patients with rare diseases to the Federal level in 2019-2020
Komarov, I A, Krasilnikova, E Yu, Aleksandrova, O Yu, Zinchenko, R A
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.03.2022)
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.03.2022)
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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, N V, Kashirskaya, N Y, Saydaeva, D K, Polyakov, A V, Adyan, T A, Simonova, O I, Gorinova, Y V, Kondratyeva, E I, Sherman, V D, Novoselova, O G, Vasilyeva, T A, Marakhonov, A V, Macek, Jr, M, Ginter, E K, Zinchenko, R A
Published in BMC medical genetics (21.03.2019)
Published in BMC medical genetics (21.03.2019)
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Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies
Andreeva, T V, Tyazhelova, T V, Rykalina, V N, Gusev, F E, Goltsov, A Yu, Zolotareva, O I, Aliseichik, M P, Borodina, T A, Grigorenko, A P, Reshetov, D A, Ginter, E K, Amelina, S S, Zinchenko, R A, Rogaev, E I
Published in Scientific reports (24.05.2016)
Published in Scientific reports (24.05.2016)
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Main methodological approaches to the identification and diagnosis of monogenic hereditary diseases and problems in the organization of medical care and unified preventive programs
Zinchenko, R A, Kutsev, S I, Aleksandrova, O Yu, Ginter, E K
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.09.2019)
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.09.2019)
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The normative legal regulation of medical care support of rare (orphan) diseases in adult population of The Russian Federation
Vasilieva, T P, Komarov, I A, Aleksandrova, O Yu, Zinchenko, R A
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.03.2021)
Published in Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsiny (01.03.2021)
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High prevalence of W1282x mutation in cystic fibrosis patients from Karachay-Cherkessia
Petrova, N.V, Kashirskaya, N.Yu, Vasilyeva, T.A, Timkovskaya, E.E, Voronkova, A.Yu, Shabalova, L.A, Kondratyeva, E.I, Sherman, V.D, Novoselova, O.G, Kapranov, N.I, Zinchenko, R.A, Ginter, E.K, Makaov, A.Kh-M, Kerem, B
Published in Journal of cystic fibrosis (01.05.2016)
Published in Journal of cystic fibrosis (01.05.2016)
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Ethnic marriage assortativeness and intensity of metisation of Karachays
El’chinov, G. I, Shakmanov, M. M, Revazova, Yu. A, Ivanov, A. V, Rusakova, A. V, Zinchenko, R. A
Published in Russian journal of genetics (01.08.2015)
Published in Russian journal of genetics (01.08.2015)
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258 Survival trends and costs of the treatment in the cystic fibrosis patients from Moscow (retrospective analysis 1993–2013)
Kashirskaya, N, Krasovsky, S, Chernyak, A, Sherman, V, Voronkova, A, Shabalova, L, Nikonova, V, Gorinova, Y, Simonova, O, Amelina, E, Samoilenko, V, Kondratyeva, E, Kapranov, N, Petrova, N, Zinchenko, R
Published in Journal of cystic fibrosis (01.06.2016)
Published in Journal of cystic fibrosis (01.06.2016)
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265 Phenotypic features in CF patients with p.Leu138dup mutation
Petrova, N, Kashirskaya, N, Vasilyeva, T, Timkovskaya, E, Voronkova, A, Kondratyeva, E, Sherman, V, Novoselova, O, Krasovsky, S, Chernyak, A, Amelina, E, Kapranov, N, Kutsev, S, Ginter, E, Zinchenko, R
Published in Journal of cystic fibrosis (01.06.2016)
Published in Journal of cystic fibrosis (01.06.2016)
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