Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care

por Sherman, Victoria, Kondratyeva, Elena, Kashirskaya, Nataliya, Voronkova, Anna, Nikonova, Victoria, Zhekaite, Elena, Kutsev, Sergey
Publicado 2020

Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy

por Kondratyeva, Elena, Efremova, Anna, Melyanovskaya, Yuliya, Voronkova, Anna, Polyakov, Alexander, Bulatenko, Nataliya, Adyan, Tagui, Sherman, Viktoriya, Kovalskaia, Valeriia, Petrova, Nika, Starinova, Marina, Bukharova, Tatiana, Kutsev, Sergei, Goldshtein, Dmitry
Publicado 2022

Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del]

por Kondratyeva, Elena, Bulatenko, Nataliya, Melyanovskaya, Yuliya, Efremova, Anna, Zhekaite, Elena, Sherman, Viktoriya, Voronkova, Anna, Asherova, Irina, Polyakov, Alexander, Adyan, Tagui, Kovalskaia, Valeriia, Bukharova, Tatiana, Goldshtein, Dmitry, Kutsev, Sergey
Publicado 2022

High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients

por 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.
Publicado 2022

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

por 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.
Publicado 2020

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients

por 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.
Publicado 2020

Vitamin D Status in Russian Children and Adolescents: Contribution of Genetic and Exogenous Factors

por 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.
Publicado 2020

Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis

por Kondratyeva, Elena, Melyanovskaya, Yuliya, Bulatenko, Nataliya, Davydenko, Ksenia, Filatova, Alexandra, Efremova, Anna, Skoblov, Mikhail, Bukharova, Tatiana, Sherman, Viktoriya, Voronkova, Anna, Zhekaite, Elena, Krasovskiy, Stanislav, Amelina, Elena, Petrova, Nika, Polyakov, Alexander, Adyan, Tagui, Starinova, Marina, Krasnova, Maria, Vasilyev, Andrey, Makhnach, Oleg, Zinchenko, Rena, Kutsev, Sergey, Gokdemir, Yasemin, Karadag, Bülent, Goldshtein, Dmitry
Publicado 2023