Zobrazeno 1 - 10
of 18
pro vyhledávání: '"G N, Seitova"'
Publikováno v:
Русский журнал детской неврологии, Vol 18, Iss 2-3, Pp 31-37 (2023)
Duchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease (less than 3 % of the norm) of the dystrophin protein. In recent years, several drugs for p
Externí odkaz:
https://doaj.org/article/5ceaa0ba431e4a7f83d400cd123f7a8d
Autor:
T. V. Karamysheva, I. N. Lebedev, L. I. Minaycheva, L. P. Nazarenko, A. A. Kashevarova, D. A. Fedotov, N. A. Skryabin, M. E. Lopatkina, A. D. Cheremnykh, E. A. Fonova, T. V. Nikitina, E. A. Sazhenova, M. M. Skleimova, N. A. Kolesnikov, G. V. Drozdov, Y. S. Yakovleva, G. N. Seitova, K. E. Orishchenko, N. B. Rubtsov
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with
Externí odkaz:
https://doaj.org/article/88afa4cfc61a4a5da256eddbcc50ab10
Autor:
E. A. Fonova, A. A. Kashevarova, M. E. Lopatkina, A. A. Sivtsev, A. A. Zarubin, V. V. Demeneva, G. N. Seitova, L. I. Minaycheva, O. A. Salyukova, S. V. Fadyushina, V. V. Petrova, E. O. Belyaeva, L. P. Nazarenko, I. N. Lebedev
Publikováno v:
European Psychiatry, Vol 66, Pp S887-S887 (2023)
Introduction The deductive method: from karyotyping to aCGH and WES is an important aspect in the diagnosis and search for the causes of intellectual disability due to congenital brain anomalies. There is recommendation to exclude the presence of CNV
Externí odkaz:
https://doaj.org/article/e9e76720658348708ac7cc6e1188419a
Autor:
A. A. Kashevarova, E. O. Belyaeva, E. A. Fonova, M. E. Lopatkina, O. Y. Vasilyeva, D. A. Fedotov, A. A. Zarubin, A. A. Sivtsev, V. V. Demeneva, O. A. Salyukova, V. V. Petrova, S. V. Fadiushina, L. I. Minaycheva, G. N. Seitova, L. P. Nazarenko, I. N. Lebedev
Publikováno v:
European Psychiatry, Vol 66, Pp S887-S887 (2023)
Introduction aCGH determines pathogenic copy number variations (CNVs) in about 10% of patients with intellectual disability (ID). In another 20% of patients, probably pathogenic CNVs or variants with uncertain clinical significance are detected. It m
Externí odkaz:
https://doaj.org/article/40662c68514145aab44af67c6d70bd1d
Publikováno v:
Klinicheskaia laboratornaia diagnostika. 67(4)
Fabry disease is an X-linked hereditary lysosomal storage disorder caused by mutations in the GLA gene. Neonatal screening for Fabry disease in males is feasible by measurement of α-galactosidase A activity in DBS using either the mass spectrometric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d88f00884b2060d747a5268bc6e06bc
https://pubmed.ncbi.nlm.nih.gov/35575392
https://pubmed.ncbi.nlm.nih.gov/35575392
Autor:
O. P. Uhanova, L. S. Kozyreva, S. V. Trishina, T. A. Stepanenko, S. Krasovskiy, N. Ponomareva, G. N. Seitova, L. M. Kudelya, E. L. Amelina, D. I. Abdulganieva, N. P. Revel-Muroz, O. V. Magnitskaya, I. E. Zilber, I. K. Asherova, T. G. Fadeeva, E. M. Reutskaya
Publikováno v:
Russian Pulmonology. 29:695-706
The article discusses the results of a phase III clinical trial to compare the pharmacokinetics, efficacy and safety of the biosimilar medicinal product Tigerase® (dornase alpha) (Generium JSC, Russia) and the reference medicinal product Pulmozyme®
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a4fd35ddde83031463bab48d0e702ea
https://doi.org/10.18093/0869-0189-2019-29-6-695-706
https://doi.org/10.18093/0869-0189-2019-29-6-695-706
Publikováno v:
Бюллетень сибирской медицины, Vol 9, Iss 5, Pp 88-92 (2010)
The correlation of the 308G/A polymorphism of α TNF (tumor necrosis factor) gene and 251А/Т polymorphism of 8 IL8 (interleukin 8) gene with clinical peculiarities of the course of chronic obstructive lung disease (COLD) in Siberian Tatars and Russ
Externí odkaz:
https://doaj.org/article/d71dfe17ea204c8e9c4e790c20c2b327
Publikováno v:
Бюллетень сибирской медицины, Vol 9, Iss 3, Pp 91-97 (2010)
The association of the tumor necrosis TNF-α –308G/A polymorphism and interleukin-8 genetic IL8 –251А/Т polymorphism with the development of the chronic obstructive lung disease (COLD) in two Tomsk populations (Siberian Tatars and Russians) has
Externí odkaz:
https://doaj.org/article/bc0ce0a3d3fc456380b011e0cc1b2992
Autor:
G. N. Seitova, Ye. B. Bukreeva, S. V. Buykin, O. Yu. Bychkova, Ye. A. Dementyeva, S. V. Nesterovich, V. P. Puzyryov
Publikováno v:
Бюллетень сибирской медицины, Vol 3, Iss 2, Pp 29-34 (2004)
Association of –308G/A-polymorphism of α-tumor necrosis factor (TNF) gene with the development of chronic obstructive pulmonary disease has been investigated in two populations of Tomsk city (Siberian Tatars and Russians). As a result, it has not
Externí odkaz:
https://doaj.org/article/c8b2c08a03744a7e990b73a5dea492b9
Publikováno v:
Бюллетень сибирской медицины, Vol 1, Iss 4, Pp 38-41 (2002)
We present data of clinical-genealogical study of patients with chronic obstructive bronchitis (82 people) and control group (108 people). Study of frequency of lung’s disease in parents and relatives of seek patients and patients from control grou
Externí odkaz:
https://doaj.org/article/7eb147fe9d8b4427be7a0bd6e1a2319b