Search Results - "Bobrovskaya, Yu A"

First results of long-term follow-up of children in Russia after gene therapy for hereditary retinal dystrophies associated with biallelic mutations in the RPE65 gene by Neroev, V. V., Katargina, L. A., Kharlampidi, M. P., Kogoleva, L. V., Zolnikova, I. V., Ilyukhin, P. A., Denisova, E. V., Milash, S. V., Osipova, N. A., Kutsev, S. I., Polyakov, A. V., Zinchenko, R. A., Kadyshev, V. V., Bobrovskaya, Yu. A.

“…Purpose: to evaluate the results of gene therapy by the recombinant adeno-associated viral vector voretigene neparvovec (VN) in children with follow-up periods…”
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Clinical and Genetic Correlations of Inherital Retinal Disease with Mutations in the ABCA4 Gene by Patients of the Russian Population by Zolnikova, I. V., Kadyshev, V. V., Marakhonov, A. V., Chernyak, A. B., Milash, S. V., Bobrovskaya, Yu. A., Urakova, N. A., Kokoeva, N. Sh, Kutsev, S. I., Zinchenko, R. A.

“…Aim : to study genotype-phenotype correlations in patients with inherited retinal diseases with mutations in ABCA4 gene in Russian Federation. Patients and…”
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Clinical and anatomical features of congenital microphthalmia and anophthalmia in children and conservative methods of rehabilitation by Sudovskaya, T V, Filatova, I A, Kiseleva, T N, Bobrovskaya, Yu A, Kokoeva, N Sh

“…To develop a comprehensive classification system of distinctive clinical and anatomical features of congenital microphthalmia and anophthalmia in children and…”
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Fundus albipunctatus with mutations in the RDH5 gene (clinical case) by Zolnikova, I V, Kadyshev, V V, Marakhonov, A V, Zinchenko, R A, Cherniak, A B, Milash, S V, Kogoleva, L V, Bobrovskaya, Yu A, Kokoeva, N S, Egorova, I V, Rogova, S Yu

“…The article describes a clinical case of a 14-year old patient with RDH5 mutations (OMIM *601617) in patient with fundus albipunctatus (OMIM #136880) and…”
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