Zobrazeno 1 - 10
of 17
pro vyhledávání: '"G. N. Seitova"'
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:
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
Autor:
E. B. Bukreeva, S. A. Bogushevich, E. A. Dementieva, G. E. Chernogoryuk, S. V. Nesterovich, G. N. Seitova, S. V. Buikin
Publikováno v:
Бюллетень сибирской медицины, Vol 2, Iss 1, Pp 75-77 (2003)
To determine the role of exogenic and endogenic factors in chronic obstructive pulmonary disease (COPD) forming 100 patients (50 patients are control group) were examined by means of clinical and genealogical researches, including family tree composi
Externí odkaz:
https://doaj.org/article/021b8071d3014ccb89598c87b6bbc647
Publikováno v:
Бюллетень сибирской медицины, Vol 3, Iss 1, Pp 124-125 (2004)
Externí odkaz:
https://doaj.org/article/3199c39293a14a298ad46eb97dadc1f2
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