Zobrazeno 1 - 10
of 23
pro vyhledávání: '"T. A. Adyan"'
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 2, Pp 31-41 (2023)
Rubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with a set of phenotypic features, which make up a recognizable pattern of the disease. This review of the lite
Externí odkaz:
https://doaj.org/article/4ec1f0896f2048ebb2128dc673ef9673
Autor:
S. S. Nikitin, S. N. Bardakov, N. A. Suponeva, I. V. Zhirov, T. A. Adyan, D. A. Grishina, R. V. Deev
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 3, Pp 12-36 (2021)
Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic progressive fatal disease, for which a modifying therapy has recently been proposed that delays the progression of the disease and improves the patient’s quality of life. The delay in the d
Externí odkaz:
https://doaj.org/article/2c8b6b89032e4c1b888806a2edc307f7
Autor:
T. A. Adyan, A. V. Polyakov
Publikováno v:
Нервно-мышечные болезни, Vol 9, Iss 4, Pp 12-25 (2020)
Hereditary transthyretin amyloidosis is described in this review, including the TTR gene structure and mutation spectrum, the transthyretin protein structure and functions, the main clinical manifestations of transthyretin amyloidosis. Also the probl
Externí odkaz:
https://doaj.org/article/8abdfb29333d41d39d05b15bd1912963
Autor:
N. Yu. Safina, T. A. Yamandi, V. B. Chernykh, L. V. Akulenko, S. V. Bogolyubov, I. I. Vityazeva, O. P. Ryzhkova, A. A. Stepanova, T. A. Adyan, E. A. Bliznets, A. V. Polyakov
Publikováno v:
Андрология и генитальная хирургия, Vol 19, Iss 2, Pp 40-51 (2018)
The objective is to study the occurrence of common genetic factors of male infertility in men with reproductive problems, their combinations and spermatological characteristics.Materials and methods. 393 men with infertility in marriage were examined
Externí odkaz:
https://doaj.org/article/8bea55c59c3b49fc8aee7134fa7d8b48
Autor:
S. A. Repina, S. A. Krasovsky, R. V. Rozhivanov, T. M. Sorokina, L. V. Shileiko, M. I. Shtaut, L. F. Kurilo, G. V. Shmarina, T. A. Adyan, N. Y. Kashirskaya, A. V. Polyakov, V. B. Chernykh
Publikováno v:
Андрология и генитальная хирургия, Vol 19, Iss 2, Pp 31-39 (2018)
Introduction. Cystic fibrosis (CF) is common monogenic disease resulted from CFTR gene mutations. A most of CF male patients are infertile due to the obstructive azoospermia, however, the mechanisms of the reduced fertility in male patients without t
Externí odkaz:
https://doaj.org/article/8b0ec55e0eca4a99b1a6b27e482bd461
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 1, Pp 46-52 (2018)
The DNA analysis revealed a transthyretin amyloidosis with a rare Phe53Leu mutation in a woman of 62 y.o. with the late onset progressive generalized axonal sensomotor neuropathy, dry eye syndrome, and an episode of severe unintentionally weight loss
Externí odkaz:
https://doaj.org/article/2dbd9420a3ae4eb0a4105f26d13fe8e8
Autor:
Nika V. Petrova, Elena Amelina, T. A. Adyan, Elena Zhekaite, A.Yu. Voronkova, Yu.L. Melyanovskaya, S.A. Krasovskiy
Publikováno v:
PULMONOLOGIYA. 31:148-158
The variety of clinical manifestations of cystic fibrosis is driven by the diversity of the CFTR gene nucleotide sequence. Descriptions of the clinical manifestations in patients with the newly identified genetic variants are of particular interest.T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae01d3d426d56f5fe0bdacf367dc3bfd
https://doi.org/10.18093/0869-0189-2021-31-2-148-158
https://doi.org/10.18093/0869-0189-2021-31-2-148-158
Autor:
A. Efremova, N. Bulatenko, A. Pashkevich, Yu. L. Melyanovskaya, Elena Kondratyeva, N. D. Odinaeva, A. Orlov, T. A. Adyan
Publikováno v:
PULMONOLOGIYA. 31:178-188
Cystic fibrosis (CF) is a systemic hereditary disease caused by a mutation of the CFTR gene and characterized by damage to the glands of external secretion and severe dysfunctions of the respiratory system. The “severe” genotypes are associated w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df66b02a566f33b72f70725d458996ff
https://doi.org/10.18093/0869-0189-2021-31-2-178-188
https://doi.org/10.18093/0869-0189-2021-31-2-178-188
Autor:
M. A. Starinova, O. I. Golubtsova, P. I. Pavlov, T. A. Gubareva, V. B. Yakovleva, M. G. Rybalkina, E. A. Vasilyeva, O. I. Simonova, T. A. Adyan, N. V. Petrova, O. V. Kondratenko, M. V. Erzutova, V. V. Shadrina, E. I. Kondratieva, A. Yu. Voronkova, N. V. Tryastsyna, L. S. Kozyreva, Yu. L. Melyanovskaya, G. V. Baikova, O. I. Starodubtseva, O. G. Pyaterkina, T. A. Kochergina, A. A. Dyachkova, I. A. Bulatova, M. A. Skachkova, D. V. Kadyrova, A. V. Chernyak, A. E. Lavrova, E. G. Furman, E. V. Osipova, V. S. Sheludko, E. L. Amelina, A. E. Zodbinova, A. V. Borisov, S. A. Krasovsky, T. V. Simanova
Publikováno v:
Perm Medical Journal. 37:48-62
Aim. The project National Register of Patients with Mucoviscidosis (MV), introduced in Russia, opened the widest perspectives for comparative analysis and summarizing of clinico-epidemiological data all over Russia, federal districts, regions and sep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69e0f2a86649375ff524db7cc0ae8dc3
https://doi.org/10.17816/pmj37148-62
https://doi.org/10.17816/pmj37148-62
Autor:
A. A. Stepanova, Alexander V. Polyakov, V. B. Chernykh, T. S. Beskorovainaya, E. G. Marnat, T. A. Adyan
Publikováno v:
Russian Journal of Genetics. 56:496-501
CBAVD syndrome is one of the common genetic causes of male infertility, associated with obstructive azoospermia, commonly resulting from pathogenic CFTR gene variants. We examined 72 Russian infertile men with CBAVD syndrome. Molecular analysis of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ff90163927ba21e2eb9c6bd2dc197f2
https://doi.org/10.1134/s1022795420040055
https://doi.org/10.1134/s1022795420040055