Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Evgeny K. Ginter"'
Autor:
Sofya A. Ionova, Aysylu F. Murtazina, Andrey A. Marakhonov, Olga A. Shchagina, Nina V. Ryadninskaya, Inna S. Tebieva, Vitaly V. Kadyshev, Artem O. Borovikov, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 17, p 9734 (2024)
Myotonic dystrophy type 1 (DM1) is a multisystem disorder with progressive myopathy and myotonia. The clinical study was conducted in the Republic of North Ossetia-Alania (RNOA), and in it 39 individuals from 17 unrelated families were identified wit
Externí odkaz:
https://doaj.org/article/86166c8852db4680a725410044d44bda
Autor:
Inna S. Tebieva, Polina V. Mishakova, Yulia V. Gabisova, Alana V. Khokhova, Tamara G. Kaloeva, Andrey V. Marakhonov, Olga A. Shchagina, Alexander V. Polyakov, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 9, p 4598 (2024)
This study, conducted in the Republic of North Ossetia-Alania (RNOA), aimed to explore the genetic landscape of hyperphenylalaninemia (HPA) and phenylketonuria (PKU) in the Ossetian population using data from newborn screening (NBS). Through comprehe
Externí odkaz:
https://doaj.org/article/934068c12947485a86366cc8dab6da1d
Autor:
Tatyana A. Vasilyeva, Andrey V. Marakhonov, Anna A. Voskresenskaya, Vitaly V. Kadyshev, Natella V. Sukhanova, Marina E. Minzhenkova, Nadezhda V. Shilova, Alla A. Latyshova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
Genes, Vol 14, Iss 11, p 2041 (2023)
This study investigates the distribution of PAX6-associated congenital aniridia (AN) and WAGR syndrome across Russian Federation (RF) districts while characterizing PAX6 gene variants. We contribute novel PAX6 pathogenic variants and 11p13 chromosome
Externí odkaz:
https://doaj.org/article/0c35b5f2d16f4baf9738372f09ea8993
Autor:
Tatyana A. Vasilyeva, Andrey V. Marakhonov, Inna S. Tebieva, Vitaly V. Kadyshev, Artem O. Borovikov, Zhanna G. Markova, Alyona L. Chukhrova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 5, p 4515 (2023)
North Caucasus has always been a residence of a lot of different authentic ethnic groups speaking different languages and still living their traditional lifestyle. The diversity appeared to be reflected in the accumulation of different mutations caus
Externí odkaz:
https://doaj.org/article/60755cec364b4c109c627263acc1ad30
Autor:
Nika V. Petrova, Nataliya Y. Kashirskaya, Stanislav A. Krasovskiy, Elena L. Amelina, Elena I. Kondratyeva, Andrey V. Marakhonov, Tatyana A. Vasilyeva, Anna Y. Voronkova, Victoria D. Sherman, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
Genes, Vol 11, Iss 10, p 1137 (2020)
The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestations and complications (the age at CF diagnosis, sweat test, pancreati
Externí odkaz:
https://doaj.org/article/c399567144c344a19bd363634bc99eb1
Autor:
Nika V Petrova, Nataliya Y Kashirskaya, Tatyana A Vasilyeva, Elenai I Kondratyeva, Andrey V Marakhonov, Milan Macek Jr, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Publikováno v:
Journal of Medical Science, Vol 89, Iss 1 (2020)
The L138ins mutation, found in Russian cystic fibrosis (CF) patients, is a duplication of three nucleotides (CTA) in exon 4 of the CFTR gene and is categorised as a small in-frame insertion/deletion. As a result, the CFTR protein molecule elongates b
Externí odkaz:
https://doaj.org/article/a523de0ff25c4f85aab3329b90684460
Autor:
null Nika V. Petrova, null Andrey V. Marakhonov, null Tatiana A. Vasilyeva, null Natalya Y. Kashirskaya, null Evgeny K. Ginter, null Sergey I. Kutsev, null Rena A. Zinchenko
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb8d3b988c48ae262daf98d3972d92f2
https://doi.org/10.1111/cge.13477/v3/response1
https://doi.org/10.1111/cge.13477/v3/response1