Zobrazeno 1 - 10
of 58
pro vyhledávání: '"V V Kadyshev"'
Publikováno v:
Oftalʹmologiâ, Vol 21, Iss 1, Pp 35-43 (2024)
This publication continues a review published in December 2023 about the genetic epidemiology and genotype-phenotype correlations in primary congenital glaucoma (PCG) worldwide, and presents data from East and South Asia, Western Europe and Russia. A
Externí odkaz:
https://doaj.org/article/4710037fcd4a431ebd3059ae1e18e5e9
Autor:
V. V. Neroev, L. A. Katargina, M. P. Kharlampidi, L. V. Kogoleva, I. V. Zolnikova, P. A. Ilyukhin, E. V. Denisova, S. V. Milash, N. A. Osipova, S. I. Kutsev, A. V. Polyakov, R. A. Zinchenko, V. V. Kadyshev, Yu. A. Bobrovskaya
Publikováno v:
Российский офтальмологический журнал, Vol 16, Iss 4, Pp 50-62 (2023)
Purpose: to evaluate the results of gene therapy by the recombinant adeno-associated viral vector voretigene neparvovec (VN) in children with follow-up periods of 1, 3, 6, and 12 months.Material and methods. The study included 6 children (12 eyes) ag
Externí odkaz:
https://doaj.org/article/ad919c19fbe440018fc9394a33c70d4f
Publikováno v:
Oftalʹmologiâ, Vol 20, Iss 4, Pp 647-655 (2023)
To understand the current situation with the genetic epidemiology of primary congenital glaucoma (PCG) in the world, as well as to identify genotype-phenotype correlations, 87 publications were analyzed from the Pubmed and elibrary databases, mainly
Externí odkaz:
https://doaj.org/article/3091c5b3018241c8b820705ff87ff330
Publikováno v:
Российский офтальмологический журнал, Vol 15, Iss 1, Pp 113-116 (2022)
Inherited retinal dystrophies (IRD) include a wide range of genetically and phenotypically heterogeneous diseases that lead to progressive loss of vision. With the development of gene therapy, it has become possible to treat two forms of IRD caused b
Externí odkaz:
https://doaj.org/article/9882c44ac4f347f0bf3f0ca1f95b6297
Publikováno v:
Российский офтальмологический журнал, Vol 15, Iss 1, Pp 105-108 (2022)
Purpose. Description of a clinical case of a patient with congenital glaucoma and mutations in the CYP1B1 gene, taking into account the analysis of literature data.Material and methods. The following methods were used to examine the patient: standard
Externí odkaz:
https://doaj.org/article/a6dcbfb734bd42cdb328a1d260861f68
Autor:
L. A. Katargina, V. V. Kadyshev, E. V. Denisova, E. A. Geraskina, A. V. Marakhonov, S. A. Garifullina, I. V. Zolnikova, R. A. Zinchenko
Publikováno v:
Российский офтальмологический журнал, Vol 14, Iss 4, Pp 52-59 (2022)
Familial exudative vitreoretinopathy (FEVR)is a rare genetically heterogeneous disease with multiple types of inheritance (autosomal dominant, autosomal recessive, X-linked) and widely varying clinical features. Up to 40 % of cases of FEVR are associ
Externí odkaz:
https://doaj.org/article/7ec125d1a9c5429f9e1a8da644323697
Publikováno v:
Фармакоэкономика, Vol 14, Iss 4, Pp 451-461 (2022)
Background. New pathogenetic treatment options, such as gene therapy, are now used to treat previously uncurable diseases. However, price of such treatment is high, especially in the case of orphan diseases, where costs may many-fold exceed the price
Externí odkaz:
https://doaj.org/article/697af79c570746cea190751ae2c2aec4
Autor:
I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, A. B. Chernyak, S. V. Milash, Yu. A. Bobrovskaya, N. A. Urakova, N. Sh. Kokoeva, S. I. Kutsev, R. A. Zinchenko
Publikováno v:
Oftalʹmologiâ, Vol 18, Iss 4, Pp 897-907 (2021)
Aim: to study genotype-phenotype correlations in patients with inherited retinal diseases with mutations in ABCA4 gene in Russian Federation.Patients and methods. 21 patients from Russian population aged from 7 to 51 years old (mean age 20 ± 11 year
Externí odkaz:
https://doaj.org/article/91590bec4d1f4f4ab2300d81ff5a86e4
Publikováno v:
Российский офтальмологический журнал, Vol 14, Iss 3, Pp 78-82 (2021)
Inherited retinal dystrophies (IRD) is an extensive group of genetically heterogeneous diseases with significant clinical polymorphism. With the development of gene therapy, a new era in the treatment of hereditary human diseases has opened. To date,
Externí odkaz:
https://doaj.org/article/ec6b24b014894703822a2852f186d87f
Publikováno v:
Oftalʹmologiâ, Vol 18, Iss 1, Pp 157-164 (2021)
The purpose: to describe clinical cases of oculodental-digital dysplasia (ODDD, OMIM #164200) with mutation in GJA1 (OMIM 121014) with molecular genetic verification of the diagnosis.Methods. The article describes the clinical case of oculodental-dig
Externí odkaz:
https://doaj.org/article/6a1d3bebaca5413a89cf75b4135ec715