Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

par Petrova, Nika V., Marakhonov, Andrey V., Balinova, Natalia V., Abrukova, Anna V., Konovalov, Fedor A., Kutsev, Sergey I., Zinchenko, Rena A.
Publié dans Genes (Basel) (2021)

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families

par Rudenskaya, Galina E., Marakhonov, Andrey V., Shchagina, Olga A., Lozier, Ekaterina R., Dadali, Elena L., Akimova, Irina A., Petrova, Nika V., Konovalov, Fedor A.
Publié dans J Pediatr Genet (2019)

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

par 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.
Publié dans Genes (Basel) (2020)

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

par 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.
Publié dans Genes (Basel) (2020)

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

par 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.
Publié dans BMC Med Genomics (2020)

Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic

par 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
Publié dans Int J Mol Epidemiol Genet (2018)

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

par 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.
Publié dans Int J Mol Sci (2020)

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

par 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.
Publié dans Front Pediatr (2020)