Zobrazeno 1 - 10
of 41
pro vyhledávání: '"A. N. Petrin"'
Autor:
Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin
Publikováno v:
Вопросы современной педиатрии, Vol 15, Iss 3, Pp 301-306 (2016)
The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3). This chromosomal abnormality is a result of segregation
Externí odkaz:
https://doaj.org/article/af6ea2c832f54742856c8f64ef950a01
Publikováno v:
Russian Journal of Genetics. 53:838-841
This paper presents analysis of 28879 marriage records from 1990–2000 (total sample). Ethnic marriage assortative mating is positive in all ethnic groups significantly represented in Karachay-Cherkessia; the lowest values are characteristic of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f142367a5f7e1a61e9cda7ad31145593
https://doi.org/10.1134/s1022795417060059
https://doi.org/10.1134/s1022795417060059
Autor:
Rena A. Zinchenko, A. H. M. Makaov, V. V. Kadyshev, G. I. El’chinova, R. A. Bikanov, A. N. Petrin, Andrey V. Marakhonov, E. K. Ginter
Publikováno v:
Russian Journal of Genetics. 54:1117-1119
To describe the population-genetic structure of the Russian population of Karachay-Cherkessia, the database of Compulsory Medical Insurance and marriage records for 1990–2000 were used. The Russian population is characterized by a low birth rate, l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6c63bc8c2acee36904fce1eef438b11
https://doi.org/10.1134/s1022795418090077
https://doi.org/10.1134/s1022795418090077
Autor:
M. S. Belenikin, S. S. Zhilina, A. A. Barinov, M. Yu. Shоrina, N. O. Bryukhanova, R. M. Magomedova, T. I. Meshcheryakova, A. N. Petrin, I. A. Demidova, G. G. Prokopiev, G. R. Mutovin, A. G. Prityko
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 60, Iss 3, Pp 89-93 (2016)
The paper describes the steps and problems of diagnosing congenital myopathy with early respiratory disorders. While differentially diagnosing, the authors consider congenital myopathies, in which early cardiac involvement is encountered. Since the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::65c35516ebd68a499713276027ec7bbf
https://www.ped-perinatology.ru/jour/article/view/213
https://www.ped-perinatology.ru/jour/article/view/213
Autor:
Tatiana V. Kozhanova, T.A. Vasilyeva, Alexander N. Petrin, Gennady R. Mutovin, Tatiana I. Meshcheryakova, Nika V. Petrova, Svetlana S. Zhylina, Maxim S. Belenikin, Rena A. Zinchenko, Andrey V. Marakhonov
Publikováno v:
Annals of Human Genetics. 79:148-152
Summary Branchio-oculo-facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular anomalies and facial dysmorphisms, including lip or palate cleft or pseudocleft, and is associate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::34b2176188bcb99aee6348350f3df069
https://doi.org/10.1111/ahg.12098
https://doi.org/10.1111/ahg.12098
Autor:
G. I. El’chinova, A. N. Petrin, S. G. Gavrilina, R.A. Bikanov, Rena A. Zinchenko, Andrey V. Marakhonov, A.Kh. Makaov
Publikováno v:
Современные проблемы науки и образования (Modern Problems of Science and Education).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb9c2106708b87902fe57c92541b5817
https://doi.org/10.17513/spno.26241
https://doi.org/10.17513/spno.26241
Autor:
Y. R. Timasheva, I. M. Karamova, Timur R. Nasibullin, A. N. Petrin, Olga E. Mustafina, I. A. Tuktarova
Publikováno v:
"Arterial’naya Gipertenziya" ("Arterial Hypertension"). 18:443-448
Background. Chronic systemic inflammation is a key factor in the pathogenesis of cardiovascular diseases. The exact mechanisms underlying blood pressure elevation are unclear, but recent findings suggest that inflammatory mediators are involved. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::678d97a48470744adf2179941b497696
https://doi.org/10.18705/1607-419x-2012-18-5-443-448
https://doi.org/10.18705/1607-419x-2012-18-5-443-448
Autor:
A V Safonova, V N Tsarev, S. A. Borinskaya, N. K. Yankovsky, S D Arutyunov, L A Akulenko, Denis V. Rebrikov, A O Zorina, Rubanovich Av, A N Petrin
Publikováno v:
Acta Naturae
Gingivitis and periodontitis are chronic inflammatory diseases of the periodontal tissue in humans caused by both environmental and genetic factors. The human cytokine genes that regulate the immune response may play an important role in the developm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b4f65a0f8a252d63a6efebcdb7c5d25
http://europepmc.org/articles/PMC3347598
http://europepmc.org/articles/PMC3347598
Autor:
Tatiana I, Meshcheryakova, Rena A, Zinchenko, Tatiana A, Vasilyeva, Andrey V, Marakhonov, Svetlana S, Zhylina, Nika V, Petrova, Tatiana V, Kozhanova, Maxim S, Belenikin, Alexander N, Petrin, Gennady R, Mutovin
Publikováno v:
Annals of human genetics. 79(2)
Branchio-oculo-facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular anomalies and facial dysmorphisms, including lip or palate cleft or pseudocleft, and is associated with m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b8ed94c365d33fb52a4bba88775d23d6
https://pubmed.ncbi.nlm.nih.gov/25590586
https://pubmed.ncbi.nlm.nih.gov/25590586
Autor:
I. A. Skachkova, E. V. Saifullina, Elza Khusnutdinova, O. A. Schagina, I. M. Khidiyatova, Rena A. Zinchenko, A. N. Petrin, R. V. Magzhanov
Publikováno v:
Genetika. 49(7)
Hereditary motor and sensory neuropathy (HMSN) type IIA is caused by mutations in the mitofusin type-2 (MFN2) gene and represents one of the most common axonal forms of HMSN. We determined the spectrum and frequency of MFN2 gene mutations in patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a092bddb9126d24ba6cc82ac4c6574
https://pubmed.ncbi.nlm.nih.gov/24450158
https://pubmed.ncbi.nlm.nih.gov/24450158