Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Tatyana A, Vasilyeva"'
Autor:
Tatyana A. Vasilyeva, Natella V. Sukhanova, Olga V. Khalanskaya, Andrey V. Marakhonov, Nikolai S. Prokhorov, Vitaly V. Kadyshev, Nikolay A. Skryabin, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 1, Pp 96-105 (2023)
This study investigates a unique and complex eye phenotype characterized by minimal iris defects, foveal hypoplasia, optic nerve coloboma, and severe posterior segment damage. Through genetic analysis and bioinformatic tools, a specific nonsynonymous
Externí odkaz:
https://doaj.org/article/660c8e7eaeb3410fbffb8e767fd02d7c
Autor:
Nika V. Petrova, Nataliya Y. Kashirskaya, Tatyana A. Vasilyeva, Natalia V. Balinova, Andrey V. Marakhonov, Elena I. Kondratyeva, Elena K. Zhekaite, Anna Y. Voronkova, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
BMC Genomics, Vol 23, Iss 1, Pp 1-6 (2022)
Abstract Cystic fibrosis (CF, MIM# 219,700) is an autosomal recessive disease caused by pathogenic variants within the CFTR gene. It was shown that genetic variants located in cis can affect disease severity or treatment response because of additive
Externí odkaz:
https://doaj.org/article/eb77531f08e340eab5d21864d406a302
Autor:
Rena A. Zinchenko, Eugeny K. Ginter, Andrey V. Marakhonov, Nika V. Petrova, Vitaly V. Kadyshev, Tatyana P. Vasilyeva, Oksana U. Alexandrova, Alexander V. Polyakov, Sergey I. Kutsev
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/f35352adcdd3428abd0afb9381b7c5e9
Autor:
Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
BMC Medical Genetics, Vol 21, Iss S1, Pp 1-5 (2020)
Abstract Background Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagnostic search in some c
Externí odkaz:
https://doaj.org/article/1fcf4db79ffb4597a5b8ab6f9bf52cb0
Autor:
Tatyana A. Vasilyeva, Andrey V. Marakhonov, Marina E. Minzhenkova, Zhanna G. Markova, Nika V. Petrova, Natella V. Sukhanova, Philipp A. Koshkin, Denis V. Pyankov, Ilya V. Kanivets, Sergey A. Korostelev, Irina A. Krynskaya, Nadezhda V. Shilova, Sergey I. Kutsev, Vitaly V. Kadyshev, Rena A. Zinchenko
Publikováno v:
BMC Medical Genomics, Vol 13, Iss S8, Pp 1-5 (2020)
Abstract Background Because of the significant occurrence of “WAGR-region” deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosi
Externí odkaz:
https://doaj.org/article/5a4f4c93fb51459caf26f894f64b28c5
Autor:
Andrey V. Marakhonov, Anna A. Voskresenskaya, Maria Jose Ballesta, Fedor A. Konovalov, Tatyana A. Vasilyeva, Fiona Blanco-Kelly, Nadezhda A. Pozdeyeva, Vitaly V. Kadyshev, Vanesa López-González, Encarna Guillen, Carmen Ayuso, Rena A. Zinchenko, Marta Corton
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Mutations in CRYAA, which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes. Results In this study, we performed clinical examination and subsequent genetic analysis i
Externí odkaz:
https://doaj.org/article/999d650258c34b188275efdf4e155454
Autor:
Rena A. Zinchenko, Eugeny K. Ginter, Andrey V. Marakhonov, Nika V. Petrova, Vitaly V. Kadyshev, Tatyana P. Vasilyeva, Oksana U. Alexandrova, Alexander V. Polyakov, Sergey I. Kutsev
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many reports and is an urgent problem, which is associated with the rapid prog
Externí odkaz:
https://doaj.org/article/fa87baa7f13345308388fa402400e9bb
Autor:
Alexey P. Isaev, Tatyana V. Vasilyeva
Publikováno v:
Управленческое консультирование, Vol 0, Iss 3, Pp 41-48 (2019)
Entrepreneurship in the mobile commerce market provides the opportunity to search for new opportunities for companies in the mobile environment. Taking into account the innovative nature of entrepreneurship in the mobile commerce market, it is necess
Externí odkaz:
https://doaj.org/article/a2765ff3e85a4e629bc3bb8bb478da8c
Publikováno v:
ЗДОРОВЬЕ НАСЕЛЕНИЯ И СРЕДА ОБИТАНИЯ - ЗНиСО / PUBLIC HEALTH AND LIFE ENVIRONMENT. :29-33
Introduction: The medical profession is characterized by high requirements for implementation of activities assessed by the quality of services provided and patient satisfaction with medical care. In this regard, healthcare professionals suffer from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b62a0e9d2b005f2799dbbafebc6a4b9d
https://doi.org/10.35627/2219-5238/2023-31-1-29-33
https://doi.org/10.35627/2219-5238/2023-31-1-29-33
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