Zobrazeno 1 - 10
of 35
pro vyhledávání: '"O V, Khlebnikova"'
Publikováno v:
Русский журнал детской неврологии, Vol 14, Iss 1, Pp 49-53 (2019)
Gillespie syndrome is one of the rare monogenic syndromes characterized by a combination of congenital muscular hypotonia, delayed psychomotor and speech development, ataxia and hypoplasia of the iris. The cause of disease – homozygous, compound he
Externí odkaz:
https://doaj.org/article/5b3415033f114fb6abaf26405d530235
Autor:
O. V. Khlebnikova, I. V. Sharkova
Publikováno v:
Российский офтальмологический журнал, Vol 12, Iss 1, Pp 97-101 (2019)
Purpose: to present a clinical case of retinal abiotrophy in mitochondrial pathology (NARP syndrome) caused by the mutation m.8993T>G in the ATPase gene type 6 in order to improve the diagnosis of hereditary abiotrophies. Material and methods. The re
Externí odkaz:
https://doaj.org/article/de5a464a6b5d4eb1825e06660a6b7015
Autor:
B. E. Malyugin, S. A. Borzenok, O. V. Khlebnikova, M. F. Shurygina, P. M. Arbukhanova, A. N. Loginova, P. L. Volodin, S. A. Zubareva
Publikováno v:
Офтальмохирургия, Vol 0, Iss 2, Pp 42-46 (2016)
Purpose. Retrospective genetic counseling analysis of patients with hereditary retinal diseases.Material and methods. The study is based on an analysis of genetic counseling and molecular genetic studies of DNA samples of 82 patients: Stargardt disea
Externí odkaz:
https://doaj.org/article/13d94f8d25b049ea8b6cae590c2c221a
Autor:
B. E. Malyugin, S. A. Borzenok, O. V. Khlebnikova, M. F. Shurygina, P. M. Arbukhanova, A. N. Loginova, E. G. Polyanskaya, O. P. Antonova
Publikováno v:
Офтальмохирургия, Vol 0, Iss 1, Pp 63-67 (2016)
Purpose. To evaluate the results in genetic consulting of patients with various forms of congenital and hereditary eyes pathology.Material and methods. The study is based on an analysis of results in genetic consulting and molecular genetic investiga
Externí odkaz:
https://doaj.org/article/c4a54c87a7be4a75b51f8da5fc6849bc
Publikováno v:
Офтальмохирургия, Vol 0, Iss 3, Pp 97-101 (2015)
Starghardt macular dystrophy is one of the most common hereditary macular dystrophies. ABCR gene has a high level of polymorphism, multiple pathological mutations and difficult feature of inheritance. All these factors determine the special methods o
Externí odkaz:
https://doaj.org/article/e7b7135685a54340a9b7f07076d9dbd2
Autor:
O. V. Khlebnikova
Publikováno v:
Вестник Кемеровского государственного университета, Vol 0, Iss 4-1, Pp 201-207 (2013)
Despite the fact that the original philosophy emerged as a practical embodiment of love-pursuit of wisdom, in the framework of modern Western culture it should still be considered as a specific «literary» tradition of knowledge. In such circumstanc
Externí odkaz:
https://doaj.org/article/ed3edc5249484854a712ccbd4721a486
Autor:
A. Kh. Makaov, Rena A. Zinchenko, Alexander S Tanas, G. I. El’chinova, Vladimir V Strelnikov, O. V. Khlebnikova, L. K. Mikhailova, Alexander V. Polyakov, Elena L. Dadali, Tatyana A. Vasilyeva, Polina Gundorova, Andrey V. Marakhonov, E. K. Ginter, V. A. Galkina
Publikováno v:
Russian Journal of Genetics. 54:83-90
The paper aims to review the diversity of monogenic hereditary disorders (MHD) in the Circassians of the Karachay-Cherkess Republic (KCR). In total, 50817 Circassians were investigated. The populations of eight districts (Ust-Dzhegutinsky, Karachayev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7645afa88b363fbb2ee1362f22f1434
https://doi.org/10.1134/s1022795418010155
https://doi.org/10.1134/s1022795418010155
Autor:
Barbara Käsmann-Kellner, Rena A. Zinchenko, G.M. Bayazutdinova, O. V. Khlebnikova, Andrey V. Marakhonov, N. A. Pozdeyeva, Elena V. Semina, E. K. Ginter, Sergey I. Kutsev, T.A. Vasilyeva, A. A. Voskresenskaya
Publikováno v:
Clinical Genetics. 92:639-644
Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of the study was to investigate the mutational and clinical spectra of congenital aniridia in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a27940290d59b440f102271ec43a3c5a
https://doi.org/10.1111/cge.13019
https://doi.org/10.1111/cge.13019
Autor:
T.A. Vasilyeva, O. V. Khlebnikova, Rena A. Zinchenko, N. A. Pozdeyeva, Andrey V. Marakhonov, A. A. Voskresenskaya
Publikováno v:
Annals of the Russian academy of medical sciences. 72:233-241
Congenital aniridia (AN) is a hereditary autosomal dominant developmental disorder of the eye. Heterozygous mutations in the PAX6 gene and chromosomal rearrangements involving the 11p13 locus lie behind the pathogenesis of the AN. The key role of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aae869877fc60c03a5a7530da8ac7d98
https://doi.org/10.15690/vramn834
https://doi.org/10.15690/vramn834
Autor:
Rena A. Zinchenko, N. A. Pozdeyeva, Anna Aleksandrovna Voskresenskaya, T. A Vasil'eva, O. V. Khlebnikova
Publikováno v:
Russian Pediatric Ophthalmology. 11:121-129
Aim. The objective of the present study was to elucidate the specific features of the clinical picture of congenital aniridia in the children and adolescents and determine the frequency of complications of this pathology in the Russian Federation. Ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e97760849e3da6528b2aaa939c50290b
https://doi.org/10.18821/1993-1859-2016-11-3-121-129
https://doi.org/10.18821/1993-1859-2016-11-3-121-129