Search Results - "A.V. Marakhonov"

Clinical and genetic characteristics of a total or partial congenital aniridia by Sukhanova, N.V., Kadyshev, V.V., Vasilieva, T.A., Marakhonov, A.V., Katargina, L.A., Kutsev, S.I., Zinchenko, R.A.

“…Aim: to assess clinical and genetic correlations between the specific clinical manifestations of congenital aniridia (CA) and the spectrum of mutations in the…”
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Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis by V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko

“…V.V. Kadyshev1, A.V. Marakhonov1, S.I. Kutsev1,2, R.A. Zinchenko1,3 1 Research Centre of Medical Genetics of the Russian Academy of Medical Sciences,…”
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Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum by V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko

“…V.V. Kadyshev1, A.V. Marakhonov1, S.I. Kutsev1,2, R.A. Zinchenko1,3 1 Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow,…”
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Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations by Vasilyeva, T.A., Voskresenskaya, A.A., Käsmann‐Kellner, B., Khlebnikova, O.V., Pozdeyeva, N.A., Bayazutdinova, G.M., Kutsev, S.I., Ginter, E.K., Semina, E.V., Marakhonov, A.V., Zinchenko, R.A.

“…Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of…”
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Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy by Vasilyeva, T A, Kadyshev, V V, Marakhonov, A V, Kanivets, I V, Korostelev, S A, Koshkin, P A, Pyankov, D V, Petrova, N V, Kutsev, S I, Zinchenko, R A

“…Coats disease (OMIM 300216) is a form of hereditary retinal dystrophy, which occurs due to congenital abnormality of retinal vessels and features unilateral…”
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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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Clinical And Molecular-Genetic Features Of Congenital Aniridia by T.A. Vasilieva, Voskresenskaya A. A, V.V. Kadyshev, N.A. Pozdeeva, A.V. Marakhonov, R.A. Zinchenko

“…Vasilyeva T. A.1, Voskresenskaya A. A.2, Kadyshev V. V.1, Pozdeyeva N. A.2, Marakhonov A. V.1,3, Zinchenko R. A.1,4 1 Research Center for Medical Genetics,…”
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