L138ins Variant of the CFTR Gene in Russian Infertile Men

por Chernykh, Vyacheslav, Sorokina, Tatyana, Sedova, Anna, Shtaut, Maria, Solovova, Olga, Marnat, Ekaterina, Adyan, Tagui, Beskorovaynaya, Tatyana, Stepanova, Anna, Shchagina, Olga, Polyakov, Aleksandr
Publicado 2023

Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome

por Chernykh, Vyacheslav, Krasovsky, Stanislav, Solovova, Olga, Adyan, Tagui, Stepanova, Anna, Marnat, Ekaterina, Shtaut, Maria, Sedova, Anna, Sorokina, Tatyana, Beskorovainaya, Tatyana, Kondratyeva, Elena, Shchagina, Olga, Polyakov, Aleksandr
Publicado 2023

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

Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel

por Kondratyeva, Elena, Melyanovskaya, Yuliya, Efremova, Anna, Krasnova, Mariya, Mokrousova, Diana, Bulatenko, Nataliya, Petrova, Nika, Polyakov, Alexander, Adyan, Tagui, Kovalskaia, Valeriia, Bukharova, Tatiana, Marakhonov, Andrey, Zinchenko, Rena, Zhekaite, Elena, Buhonin, Artem, Goldshtein, Dmitry
Publicado 2023

Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant

por Kondratyeva, Elena, Bukharova, Tatyana, Efremova, Anna, Melyanovskaya, Yuliya, Bulatenko, Natalia, Davydenko, Ksenia, Filatova, Alexandra, Skoblov, Mikhail, Krasovsky, Stanislav, Petrova, Nika, Polyakov, Alexander, Adyan, Tagui, Amelina, Elena, Shadrina, Vera, Zhekaite, Elena, Zodbinova, Aysa, Chernyak, Alexander, Zinchenko, Rena, Kutsev, Sergei, Goldshtein, Dmitry
Publicado 2021

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