Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Aliy Yu. Asanov"'
Genetic and Clinical Features of Shwachman-Diamond Syndrome in Russian Population: Prospective Study
Autor:
Maria G. Ipatova, Ekaterina A. Deordieva, Oksana A. Shvets, Anna A. Mukhina, Anna A. Moiseeva, Yulya A. Rodina, Petr V. Shumilov, Anna V. Pavlova, Elena V. Raikina, Aliy Yu. Asanov, Maria M. Litvinova, Anna Y. Shcherbina
Publikováno v:
Вопросы современной педиатрии, Vol 18, Iss 5, Pp 393-400 (2020)
Background. Shwachman-Diamond syndrome (SDS) is the rare genetic autosomal recessive disorder with pathogenic variants in SBDS gene. The spectrum of SBDS gene variants in patients with SDS and features of disease course have not been studied before i
Externí odkaz:
https://doaj.org/article/57c5e34fc63d413090aeb47f9ab0acdc
Autor:
Maria M. Litvinova, Kamil Khafizov, Vitaly I. Korchagin, Anna S. Speranskaya, Aliy Yu. Asanov, Alina D. Matsvay, Daniil A. Kiselev, Diana V. Svetlichnaya, Sevda Z. Nuralieva, Alexey A. Moskalev, Tamara V. Filippova
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Kidney stone disease is an urgent medical and social problem. Genetic factors play an important role in the disease development. This study aims to establish an association between polymorphisms in genes coding for proteins involved in calcium metabo
Externí odkaz:
https://doaj.org/article/35cef0edd3444222a714a9a62a282dd1
Autor:
Elizaveta S. Ershova, Natalia N. Veiko, Svetlana G. Nikitina, Elena E. Balakireva, Andrey V. Martynov, Julia M. Chudakova, Galina V. Shmarina, Svetlana E. Kostyuk, Nataliya A. Salimova, Roman V. Veiko, Lev N. Porokhovnik, Aliy Yu Asanov, Vera L. Izhevskaia, Sergey I. Kutsev, Nataliya V. Simashkova, Svetlana V. Kostyuk
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 11, p 1796 (2022)
Introduction: Differential diagnostics of early-onset schizophrenia and autism spectrum disorders (ASD) are a problem of child psychiatry. The prognosis and relevant treatment are to a large degree determined by the correctness of diagnosis. We found
Externí odkaz:
https://doaj.org/article/84d5c68565f445d2afaad4964c9d09b4
Autor:
Aliy Yu. Asanov, Alexander Pushkov, Alla V. Migali, N. N. Mazanova, Mariya A. Varichkina, Alina Yu. Alexeeva, Andrey P. Fisenko, Nataliya V. Zhurkova, L. M. Kuzenkova, Aleksey V. Sukhozhenko, Kirill Savostyanov, Vasily V. Chernyaev, Oksana V. Globa
Publikováno v:
L.O. Badalyan Neurological Journal. 1:21-28
Introduction. Krabbe disease (KD) is the lysosomal storage disease developed due to the decline of the galactocerebrosidase activity associated with mutations in the GALC gene. It leads to the development of oligodendrocytes and lemmocytes (Schwann c
Autor:
Aliy Yu. Asanov, Olga Yu. Olisova, T. M. Zavarykina, Alexey A. Dmitriev, Lyailya Kayumova, N. G Kochergin
Publikováno v:
Experimental Dermatology. 29:184-189
Atopic dermatitis (AD) is a worldwide disease with a complex aetiology. Both genetic and environmental factors cause a predisposition to AD. DNA methylation may be an additional predisposing factor. The goal of our study was to investigate genome-wid
Autor:
T V Filippova, Sevda Z Nuralieva, Lilit Egshatyan, D V Svetlichnaya, Aliy Yu. Asanov, M M Litvinova
Publikováno v:
Endocrine Abstracts.
Autor:
Yury A. Barbitoff, Diana Alaverdian, Inna G. Tuluzanovskaya, Olga V. Romanova, Mariya S. Balashova, Andrey M. Sarana, Andrey S. Glotov, Sergey G. Scherbak, Tatiana E. Ivashchenko, Aliy Yu. Asanov, Oleg S. Glotov, Tatiana M. Ignatova, Anatoly V. Skalny, Mikhail A. Fedyakov, Natalya A. Zhuchenko, Vladislav S Baranov, Marat I. Filimonov
Publikováno v:
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS). 59
Background. Wilson’s disease (WD) is a rare inherited disorder caused by mutations in the ATP7B gene resulting in copper accumulation in different organs. However, data on ATP7B mutation spectrum in Russia and worldwide are insufficient and contrad
Publikováno v:
Birth Defects Research Part A: Clinical and Molecular Teratology. 106:854-859
Background This study examined the prevalence of esophageal atresia (EA) and the relationship between EA and demographic factors in the Russian Federation. Methods Data were obtained from a population-based congenital malformations registry across 14
Autor:
Nataliya S, Demikova, Yulia V, Vydrych, Marina A, Podolnaya, Aleksandra S, Lapina, Aliy Yu, Asanov
Publikováno v:
Birth defects research. Part A, Clinical and molecular teratology. 106(10)
This study examined the prevalence of esophageal atresia (EA) and the relationship between EA and demographic factors in the Russian Federation.Data were obtained from a population-based congenital malformations registry across 14 years (2000-2013) i