High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients
Petrova, Nika V, Kashirskaya, Nataliya Y, Vasilyeva, Tatyana A, Balinova, Natalia V, Marakhonov, Andrey V, Kondratyeva, Elena I, Zhekaite, Elena K, Voronkova, Anna Y, Kutsev, Sergey I, Zinchenko, Rena A
Published in BMC genomics (01.04.2022)
Published in BMC genomics (01.04.2022)
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Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence
Zinchenko, Rena A., Ginter, Eugeny K., Marakhonov, Andrey V., Petrova, Nika V., Kadyshev, Vitaly V., Vasilyeva, Tatyana P., Alexandrova, Oksana U., Polyakov, Alexander V., Kutsev, Sergey I.
Published in Frontiers in genetics (09.09.2022)
Published in Frontiers in genetics (09.09.2022)
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Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
Zinchenko, Rena A., Ginter, Eugeny K., Marakhonov, Andrey V., Petrova, Nika V., Kadyshev, Vitaly V., Vasilyeva, Tatyana P., Alexandrova, Oksana U., Polyakov, Alexander V., Kutsev, Sergey I.
Published in Frontiers in genetics (30.08.2021)
Published in Frontiers in genetics (30.08.2021)
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Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic
Zinchenko, Rena A, Makaov, Amin Kh, Marakhonov, Andrey V, Galkina, Varvara A, Kadyshev, Vitaly V, El'chinova, Galina I, Dadali, Elena L, Mikhailova, Lyudmila K, Petrova, Nika V, Petrina, Nina E, Vasilyeva, Tatyana A, Gundorova, Polina, Polyakov, Alexander V, Alexandrova, Oksana Y, Kutsev, Sergey I, Ginter, Eugeny K
Published in International journal of molecular sciences (03.01.2020)
Published in International journal of molecular sciences (03.01.2020)
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Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation
Petrova, Nika V., Marakhonov, Andrey V., Vasilyeva, Tatiana A., Kashirskaya, Natalya Y., Ginter, Evgeny K., Kutsev, Sergey I., Zinchenko, Rena A.
Published in Clinical genetics (01.03.2019)
Published in Clinical genetics (01.03.2019)
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A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region
Vasilyeva, Tatyana A, Marakhonov, Andrey V, Minzhenkova, Marina E, Markova, Zhanna G, Petrova, Nika V, Sukhanova, Natella V, Koshkin, Philipp A, Pyankov, Denis V, Kanivets, Ilya V, Korostelev, Sergey A, Krynskaya, Irina A, Shilova, Nadezhda V, Kutsev, Sergey I, Kadyshev, Vitaly V, Zinchenko, Rena A
Published in BMC medical genomics (18.09.2020)
Published in BMC medical genomics (18.09.2020)
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Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients
Petrova, Nika V, Kashirskaya, Nataliya Y, Vasilyeva, Tatyana A, Kondratyeva, Elena I, Zhekaite, Elena K, Voronkova, Anna Y, Sherman, Victoria D, Galkina, Varvara A, Ginter, Eugeny K, Kutsev, Sergey I, Marakhonov, Andrey V, Zinchenko, Rena A
Published in Genes (15.05.2020)
Published in Genes (15.05.2020)
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Vitamin D Status Among Children With Juvenile Idiopathic Arthritis: A Multicenter Prospective, Non-randomized, Comparative Study
Kondratyeva, Elena I., Odinaeva, Nuriniso D., Klimov, Leonid Ya, Podchernyaeva, Nadeshda S., Ilenkova, Natalya I., Dolbnya, Svetlana V., Zhekaite, Elena K., Kuryaninova, Victoria A., Kotova, Yuliya V., Tikhaya, Margarita I., Shitkovskaya, Elena P., Bychina, Liubov V., Drepa, Tamara G., Zodbinova, Aisa E., Melyanovskaya, Yuliya L., Petrova, Nika V., Loshkova, Elena V., Kutsev, Sergei I.
Published in Frontiers in pediatrics (26.07.2022)
Published in Frontiers in pediatrics (26.07.2022)
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Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population
Petrova, Nika V, Marakhonov, Andrey V, Balinova, Natalia V, Abrukova, Anna V, Konovalov, Fedor A, Kutsev, Sergey I, Zinchenko, Rena A
Published in Genes (27.05.2021)
Published in Genes (27.05.2021)
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Vitamin D Status in Russian Children and Adolescents: Contribution of Genetic and Exogenous Factors
Kondratyeva, Elena I, Zakharova, Irina N, Ilenkova, Natalya A, Klimov, Leonid Ya, Petrova, Nika V, Zodbinova, Aisa E, Zhekaite, Elena K, Chikunov, Vladimir V, Dolbnya, Svetlana V, Voronkova, Anna Yu, Sherman, Victoria D, Loshkova, Elena V, Melyanovskaya, Yuliya L, Budzinskiy, Roman M, Kuryaninova, Victoria A, Kutsev, Sergey I
Published in Frontiers in pediatrics (19.11.2020)
Published in Frontiers in pediatrics (19.11.2020)
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Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients
Petrova, Nika V, Kashirskaya, Nataliya Y, Krasovskiy, Stanislav A, Amelina, Elena L, Kondratyeva, Elena I, Marakhonov, Andrey V, Vasilyeva, Tatyana A, Voronkova, Anna Y, Sherman, Victoria D, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena A
Published in Genes (27.09.2020)
Published in Genes (27.09.2020)
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HMG-CoA Reductase Inhibition Causes Increased Necrosis and Apoptosis in an In Vivo Mouse Glioblastoma Multiforme Model
Bababeygy, Simon R, Polevaya, Nika V, Youssef, Sawsan, Sun, Amy, Xiong, Anming, Prugpichailers, Tiffany, Veeravagu, Anand, Hou, Lewis C, Steinman, Lawrence, Tse, Victor
Published in Anticancer research (01.12.2009)
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Published in Anticancer research (01.12.2009)
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Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families
Rudenskaya, Galina E., Marakhonov, Andrey V., Shchagina, Olga A., Lozier, Ekaterina R., Dadali, Elena L., Akimova, Irina A., Petrova, Nika V., Konovalov, Fedor A.
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2019)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2019)
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A Clinical and Molecular Analysis of Branchio‐Oculo‐Facial Syndrome Patients in Russia Revealed New Mutations in TFAP2A
Meshcheryakova, Tatiana I., Zinchenko, Rena A., Vasilyeva, Tatiana A., Marakhonov, Andrey V., Zhylina, Svetlana S., Petrova, Nika V., Kozhanova, Tatiana V., Belenikin, Maxim S., Petrin, Alexander N., Mutovin, Gennady R.
Published in Annals of human genetics (01.03.2015)
Published in Annals of human genetics (01.03.2015)
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Journal Article
Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients: L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients
Petrova, Nika V, Kashirskaya, Nataliya Y, Vasilyeva, Tatyana A, Kondratyeva, Elenai I, Marakhonov, Andrey V, Macek Jr, Milan, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena A
Published in Journal of medical science (31.03.2020)
Published in Journal of medical science (31.03.2020)
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Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic
Zinchenko, Rena A, Kadyshev, Vitaly V, El'chinova, Galina I, Marakhonov, Andrey V, Galkina, Varvara A, Dadali, Elena L, Khlebnikova, Olga V, Mikhailova, Lyudmila K, Petrova, Nika V, Petrina, Nina E, Vasilyeva, Tatyana A, Gundorova, Polina, Tanas, Alexander S, Strelnikov, Vladimir V, Polyakov, Alexander V, Ginter, Eugeny K
Published in International journal of molecular epidemiology and genetics (01.01.2018)
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Published in International journal of molecular epidemiology and genetics (01.01.2018)
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The transition from hunterian ligation to intracranial aneurysm clips: a historical perspective
Polevaya, Nika V, Kalani, M Yashar S, Steinberg, Gary K, Tse, Victor C K
Published in Neurosurgical focus (15.06.2006)
Published in Neurosurgical focus (15.06.2006)
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