Zobrazeno 1 - 10
of 10
pro vyhledávání: '"I S, Zhanin"'
Autor:
O. B. Kondakova, A. P. Gudkova, S. V. Demyanov, Yu. I. Davydova, A. A. Lyalina, D. I. Grebenkin, E. A. Bakovich, I. V. Kanivets, D. S. Demyanov, I. S. Zhanin, A. A. Pushkov, K. V. Savostyanov
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 2 (2024)
Zhu–Tokita–Takenouchi–Kim syndrome (ZTTK syndrome) is a rare autosomal dominant nuclear speckleopathy characterized by developmental delay, hypotonia, intellectual disability, facial dysmorphism in association with variable brain malformations,
Externí odkaz:
https://doaj.org/article/499cdba2decc4d8e80a4402bdf9d3597
Autor:
K. V. Savostyanov, A. A. Pushkov, O. A. Shchagina, V. V. Maltseva, E. A. Suleymanov, I. S. Zhanin, N. N. Mazanova, A. P. Fisenko, P. S. Mishakova, A. V. Polyakov, E. V. Balanovska, R. A. Zinchenko, A. N. Tsygin
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene. The analysis methods are as follows: tandem mass spectrometry to determine the cystine
Externí odkaz:
https://doaj.org/article/667be221ddaa47f189eff65ee120c0c2
Autor:
K. V. Savostyanov, E. N. Basargina, E. E. Ryabova, A. A. Pushkov, I. S. Zhanin, E. Yu. Basargina, A. Yu. Alekseeva, L. V. Muraveva, L. A. Gandaeva, A. P. Fisenko
Publikováno v:
Российский кардиологический журнал, Vol 26, Iss 10 (2021)
Aim. To identify the proportion of restrictive cardiomyopathy (RCM), as well as cardiomyopathy (CMP) with a restrictive type of hemodynamics among all cases of genetic CMP and to determine the relative frequencies and spectrum of nucleotide variants
Externí odkaz:
https://doaj.org/article/83d6f74665aa4fc29cb15511717ae4a4
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 10, Iss 3, Pp 72-78 (2018)
Stroke is one of the leading causes of death and disability in the population, has a complex multifactorial nature and develops through the interaction of environmental factors and genetic predisposition, the pattern and mechanisms of which have been
Externí odkaz:
https://doaj.org/article/5d84f6bb7a4640da8ce5d0dde421541f
Autor:
AA Pushkov, Alexey Nikitin, I. S. Zhanin, IV Davydova, Kirill Savostyanov, MA Basargina, VA Bondar
Publikováno v:
Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4f6feb0b7e9f9cc64f103937c76ec7b
https://doi.org/10.1136/archdischild-2021-europaediatrics.423
https://doi.org/10.1136/archdischild-2021-europaediatrics.423
Autor:
Alexander Pakhomov, AA Pushkov, A. S. Potapov, Alexey Nikitin, Elena N. Basargina, I. S. Zhanin, A.N. Surkov, Kirill V. Savostyanov, L.S. Namazova-Baranova, Alexander Baranov
Publikováno v:
Russian Pediatric Journal. 20:132-139
There has been developed and validated the technology for massive parallel sequencing for the purpose of molecular genetic diagnosis of hereditary glycogen storage diseases. Among 96 patients aged of from 15 months up to 18 years, the diagnosis was v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::22c70a540a48f2a7e038cf49e2e679eb
https://doi.org/10.18821/1560-9561-2017-20-3-132-139
https://doi.org/10.18821/1560-9561-2017-20-3-132-139
Publikováno v:
Nevrologiâ, Nejropsihiatriâ, Psihosomatika, Vol 10, Iss 3, Pp 72-78 (2018)
Stroke is one of the leading causes of death and disability in the population, has a complex multifactorial nature and develops through the interaction of environmental factors and genetic predisposition, the pattern and mechanisms of which have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b44f51192e7a5f7a49deef1ea3ec6b
https://doi.org/10.14412/2074-2711-2018-3-72-78
https://doi.org/10.14412/2074-2711-2018-3-72-78
Autor:
V. Yu. Lukanina, N. А. Sdvigova, I. S. Zhanin, Leyla Namazova-Baranova, Alexey Nikitin, E. N. Basargina, Nato Vashakmadze, Kirill Savostyanov, AA Pushkov, Natalya Zhurkova
Publikováno v:
Annals of the Russian academy of medical sciences. 72:242-253
Background: Cardiomyopathies in children are serious, continuously progressing myocardium diseases which are characterized by a variety of the causes, symptoms, implications, and high lethality. More than 400 genes that can cause hereditary heart and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1267a347bfbaf467639dc49dfa181018
https://doi.org/10.15690/vramn872
https://doi.org/10.15690/vramn872
Publikováno v:
Молекулярная биология. :683-695
miRNA expression over different time periods (24 and 48 h) using the quantitative RT-PCR and deep sequencing has been evaluated in a model of photochemically induced thrombosis. A combination of two approaches allowed us to determine the miRNA expres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f956f8b4d916db27e526a65f1d9d03e
https://doi.org/10.7868/s0026898417040103
https://doi.org/10.7868/s0026898417040103
Publikováno v:
Molekuliarnaia biologiia. 51(4)
miRNA expression over different time periods (24 and 48 h) using the quantitative RT-PCR and deep sequencing has been evaluated in a model of photochemically induced thrombosis. A combination of two approaches allowed us to determine the miRNA expres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::42cafc1e1aacc5932339535c64fcfb66
https://pubmed.ncbi.nlm.nih.gov/28900088
https://pubmed.ncbi.nlm.nih.gov/28900088