Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Elena Voskoboeva"'
Autor:
Elena Voskoboeva, Alla Semyachkina, Ochir Miklyaev, Amina Gamzatova, Svetlana Mikhaylova, Nato Vashakmadze, Galina Baydakova, Olga Omzar, Natalia Pichkur, Ekaterina Zakharova, Sergey Kutsev
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2022)
Mucopolysaccharidosis VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by mutations in the arylsulfatase B gene (ARSB) and consequent deficient activity of ARSB, a lysosomal enzyme involved in the glycosaminoglycan (s) (GAGs) me
Externí odkaz:
https://doaj.org/article/67f10a40bd494bc2b658d4f51a427f24
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 47-54 (2018)
We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the CBS gene for thirteen patients from eleven unrelated genealogies. All patients except for the two were compound heter
Externí odkaz:
https://doaj.org/article/00dd94052bb84841853b733fef469bf7
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-18 (2021)
BMC Medical Genomics
BMC Medical Genomics
Background This article presents the results of long-term observations and comparative analysis of genotype–phenotype features in a large group of patients (227 males and one female) with a severe, intermediate and mild form of Hunter syndrome, eva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af36f6625d75aee355959938c6542605
https://doaj.org/article/8f29f164769c470496d68d7ccc4d6e4a
https://doaj.org/article/8f29f164769c470496d68d7ccc4d6e4a
Publikováno v:
Economy. Management. Business. :80-87
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e74c6534b8f1e3981a1257dac9ebf8d
https://doi.org/10.31673/2415-8089.2019.028087
https://doi.org/10.31673/2415-8089.2019.028087
Publikováno v:
State University of Telecommunications. :76-84
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::726b9348ae69841a507616c1d26a645b
https://doi.org/10.31673/2415-8089.2019.017684
https://doi.org/10.31673/2415-8089.2019.017684
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 47-54 (2018)
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 47-54 (2018)
We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the CBS gene for thirteen patients from eleven unrelated genealogies. All patients except for the two were compound heter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b844cc26943e79b864fd72bb95743081
http://europepmc.org/articles/PMC5758839
http://europepmc.org/articles/PMC5758839
Publikováno v:
Journal of Neurology & Neurophysiology.
The aim of this article is to analyze clinical features and molecular and genetic data of the Russian cohort of homocystinuria patients. We present the results of the 45 year clinical observation of 27 Russian homocystinuria patients. The clinical ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba9be8ab3d84a1139585cd928f4fdde9
https://doi.org/10.4172/2155-9562.1000458
https://doi.org/10.4172/2155-9562.1000458
Autor:
Vera Malinova, Adam Golda, Loreta Cimbalistiene, Anna Tylki-Szymańska, Agnieszka Jurecka, Elena Voskoboeva, Ekaterina Zakharova, Gulnara Kaldenovna Abdilova, Anna Kulpanovich, Agnieszka Różdżyńska-Świątkowska, Nina Gusina
Publikováno v:
Pediatrics International. 56:520-525
Background The aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI (MPS VI) in Russia, Kazakhstan, and Central and Eastern Europe. Methods Patients (n = 49) were identified by retri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8963c72bd464da91b27e797467ceb111
https://doi.org/10.1111/ped.12281
https://doi.org/10.1111/ped.12281
Publikováno v:
Human Mutation. 14:471-476
We describe a novel type of complex genetic rearrangement in the iduronate-2-sulfatase (IDS) gene of a severely affected MPSII patient. Southern blot analysis indicated an intragenic deletion of exons 5 and 6. The deletion spans 5,581 bp. Sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d783f43da9a4a3b62f321f7fd7452ebc
https://doi.org/10.1002/(sici)1098-1004(199912)14:6<471::aid-humu5>3.0.co
https://doi.org/10.1002/(sici)1098-1004(199912)14:6<471::aid-humu5>3.0.co
Autor:
Marie-Louise Bondeson, Stanislav L. Karsten, Svetlana Tishkanina, Xcenia Krasnopolskaja, Elena Voskoboeva, Ulf Pettersson
Publikováno v:
Human Genetics. 103:732-735
We present a mutational analysis of the iduronate-2-sulfatase (IDS) gene of 36 Russian patients with Hunter syndrome. Among 29 mutant alleles, there were 19 missense mutations, 1 nonsense mutation, 6 mutations affecting splice sites, and 3 major stru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d39593ee91abce0062619c0e4618107
https://doi.org/10.1007/s004390050901
https://doi.org/10.1007/s004390050901