المؤلفون: V. . Zolnikova, D. V. Levina, T. D. Okhotsimskaya, V. A. Fadeeva, I. V. Egorova, E. V. Rogatina, E. A. Eremeeva, O. N. Demenkova, S. Yu. Rogova

المصدر: Российский офтальмологический журнал, Vol 10, Iss 3, Pp 22-28 (2018)

مصطلحات موضوعية: пигментный ретинит, электроретинограмма, макулярная эрг, окт-ангиография, глубокое капиллярное сплетение, поверхностное капиллярное сплетение, ретинальные перипапиллярные капилляры, плотность сосудистой сети в парафовеа, сосудистый индекс, площадь кровотока, фовеальная аваскулярная зона, retinitis pigmentosa, electroretinogram, macular erg, oct angiography, superficial capillary plexuses, deep capillary plexuses, retinal peripapillary capillaries, parafoveal vessel density, vascular index, flow area, foveal avascular zone, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://roj.igb.ru/jour/article/view/105; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760

URL الوصول: https://doaj.org/article/948171c903ee4b95b2537439ff797c18

المؤلفون: T. D. Okhotsimskaya, N. V. Neroeva, I. V. Zolnikova, N. E. Deryugina, O. I. Markelova

المصدر: Российский офтальмологический журнал, Vol 17, Iss 1, Pp 40-46 (2024)

مصطلحات موضوعية: hereditary retinal dystrophies, retinitis pigmentosa, ocular blood flow, laser speckle flowgraphy, lsfg, mbr, parameters of pulse wave, Ophthalmology, RE1-994

Relation: https://roj.igb.ru/jour/article/view/1425; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760; https://doaj.org/article/c538159329a049d88757c97ce8c146b6

الاتاحة: https://doi.org/10.21516/2072-0076-2024-17-1-40-46
https://doaj.org/article/c538159329a049d88757c97ce8c146b6

المؤلفون: 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

المصدر: Российский офтальмологический журнал, Vol 16, Iss 4, Pp 50-62 (2023)

مصطلحات موضوعية: inherited retinal dystrophies, gene therapy, rpe65, voretigen neparvovec, luxturna, leber congenital amaurosis, retinitis pigmentosa, genetics, ophthalmology, RE1-994

Relation: https://roj.igb.ru/jour/article/view/1356; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760; https://doaj.org/article/ad919c19fbe440018fc9394a33c70d4f

الاتاحة: https://doi.org/10.21516/2072-0076-2023-16-4-50-62
https://doaj.org/article/ad919c19fbe440018fc9394a33c70d4f

المؤلفون: L. A. Katargina, V. V. Kadyshev, E. V. Denisova, E. A. Geraskina, A. V. Marakhonov, S. A. Garifullina, I. V. Zolnikova, R. A. Zinchenko

المصدر: Российский офтальмологический журнал, Vol 14, Iss 4, Pp 52-59 (2022)

مصطلحات موضوعية: familial exudative vitreoretinopathy, retinal avascular zones, fzd4 gene mutations, vitreoretinal pathology in children, Ophthalmology, RE1-994

Relation: https://roj.igb.ru/jour/article/view/782; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760; https://doaj.org/article/7ec125d1a9c5429f9e1a8da644323697

الاتاحة: https://doi.org/10.21516/2072-0076-2021-14-4-52-59
https://doaj.org/article/7ec125d1a9c5429f9e1a8da644323697

المؤلفون: 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, И. В. Зольникова, В. В. Кадышев, А. В. Марахонов, А. Б. Черняк, С. В. Милаш, Ю. А. Бобровская, Н. А. Уракова, Н. Ш. Кокоева, С. И. Куцев, Р. А. Зинченко

المساهمون: Работа выполнена при финансовой поддержке РНФ, проект № 17-15-01051, и в рамках государственного задания Минобрнауки России для ФГБНУ «МГНЦ».

المصدر: Ophthalmology in Russia; Том 18, № 4 (2021); 897-907 ; Офтальмология; Том 18, № 4 (2021); 897-907 ; 2500-0845 ; 1816-5095 ; 10.18008/1816-5095-2021-4

مصطلحات موضوعية: клинический полиморфизм, retinitis pigmentosa, ABCA4, genetics, electroretinography, optical coherence tomography, autofluorescence, DNA diagnostics, mutations, clinical polymorphism, пигментный ретинит, генетика, электроретинография, оптическая когерентная томография, аутофлюоресценция, ДНК-диагностика, мутации

وصف الملف: application/pdf

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Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs. Invest Ophthalmol Vis Sci. 2017;58(1):394–403. DOI:10.1167/iovs.16-19936; Stargardt K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch Klin Exp Ophthal. 1909;71:534–549.; Зольникова И.В, Рогатина Е.В. Дистрофия Штаргардта: клиника, диагностика, лечение. Клиницист. 2010;1:29–33.; Зольникова И.В., Карлова И.З., Рогатина Е.В. Макулярная и мультифокальная электроретинография в диагностике дистрофии Штаргардта. Вестник офтальмологии. 2009;125(1):41–46.; van Driel M.A., Maugeri A, Klevering BJ, Hoyng CB, Cremers FP. ABCR unites what ophthalmologists divide(s). Ophthalmic Genet. 1998;19(3):117–122. DOI:10.1076/opge.19.3.117.2187; Zolnikova I.V., Strelnikov V.V., Skvortsova N.A., Alexander S., Tanas А.S., Barh D., Rogatina E.V., Egorova I.V., Levina D.V., Demenkova O.N., Prikaziuk E.G., Ivanova M.E. Stargardt disease-associated mutation spectrum of a Russian Federation cohort. Eur J Med Genet. 2017;60(2):140–147. DOI:10.1016/j.ejmg.2016.12.002; Зольникова И.В., Иванова M.E., Стрельников В.В. Спектр мутаций при ABCA4-ассоциированной болезни Штаргардта в российской популяции. Российская педиатрическая офтальмология. 2016;1:14–22.; Cremers F.P., van de Pol D.J., van Driel M., den Hollander A.I., van Haren F.J., Knoers N.V., Tijmes N., Bergen A.A, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt’s disease gene ABCR. Hum. Mol.Genet. 1998;7:355–362. DOI:10.1093/hmg/7.3.355; Martínez-Mir A., Paloma E., Allikmets R. Ayuso C., del Río T., Dean M., Vilageliu L., Gonzàlez-Duarte R., Balcells S. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet. 1998;18(1):11–12. DOI:10.1038/ng0198-11; Rudolph G., Kalpadakis P., Haritoglou C., Rivera A., Weber B.H. Mutations in the ABCA4 gene in a family with Stargardt’s disease and retinitis pigmentosa Klin. Monbl. Augenheilkd. 2002;219(8):590–596. DOI:10.1055/s-2002-34425; Kitiratschky V.B.D., Grau T., Bernd A., Zrenner E., Jägle H., Renner A.B., Kellner U., Rudolph G., Jacobson S.G., Cideciyan A.V., Schaich S., Kohl S., Wissinger B. ABCA4gene analysis in patients with autosomal recessive cone and cone rod dystrophies. Eur J Hum Genet. 2008;16(7):812–819. DOI:10.1038/ejhg.2008.23; Lewis R.A., Shroyer N.F., Singh N., Allikmets R., Hutchinson A., Li Y., Lupski J.R., Leppert M., Dean M. Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet. 1999;64(2):422–434. DOI:10.1086/302251; Tanna P., Strauss R.W., Fujinami K. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2017;101:25–30. DOI:10.1136/bjophthalmol-2016-308823; Rozet J.M., Gerber S., Souied E., Perrault I., Châtelin S., Ghazi I., Leowski C., Dufier J.L., Munnich A., Kaplan J. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet. 1998 May-Jun;6(3):291–295. DOI:10.1038/sj.ejhg.5200221; Jespersgaard C., Fang M., Bertelsen M., Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T., Zhang J., Møller L.B., Tümer Z., Brøndum-Nielsen K., Grønskov K. Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. Sci Rep. 2019;9(1):1219. DOI:10.1038/s41598-018-38007-2; Garces F., Jiang K., Molday L.L., Stöhr H., Weber B.H., Lyons C.J., Maberley D., Molday R.S. Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. Invest Ophthalmol Vis Sci. 2018:59(6):2305–2315. DOI:10.1167/iovs.17-23364.; Ścieżyńska A., Oziębło D., Ambroziak A.M., Korwin M., Szulborski K., Krawczyński M., Stawiński P., Szaflik J., Szaflik J.P., Płoski R., Ołdak M. Nextgeneration sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe. Exp Eye Res. 2016;145:93–99. DOI:10.1016/j.exer.2015.11.011; Zhang N., Tsybovsky Y., Kolesnikov A.V., Rozanowska M., Swider M., Schwartz S.B., Stone E.M., Palczewska G., Maeda A., Kefalov V.J., Jacobson S.G., Cideciyan A.V., Palczewski K. Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. Hum Mol Genet. 2015;24(11):3220–3237. DOI:10.1093/hmg/ddv073; Cella W., Greenstein V.C., Zernant-Rajang J., Smith T.R., Barile G., Allikmets R., Stephen Tsang S.T. G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull’s eye maculopathy. Exp Eye Res. 2009;89:16–24. DOI:10.1016/j. exer.2009.02.001; Testa F., Rossi S., Sodi A., Passerini I., Di Iorio V., Della Corte M., Banfi S., Surace E.M., Menchini U., Auricchio A., Simonelli F. Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. Invest Ophthalmol Vis Sci. 2012;8:4409–4415. DOI:10.1167/ iovs.11-8201; Fakin A., Robson A.G., Fujinami K., Moore A.T., Michaelides M., Pei-Wen Chiang J., Holder G., Webster A.R. Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4. Invest Ophthalmol Vis Sci. 2016;57(11):4668–4678. DOI:10.1167/iovs.16-19829; Lee W., Schuerch K., Zernant J., Collison F.T., Bearelly S., Fishman G.A., Tsang S.H., Sparrow J.R. Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent. Eur J Hum Genet. 2017;25(6):735–743. DOI:10.1038/ejhg.2017.13; Zernant J., Schubert C., Im K.M., Burke T., Brown C.M., Fishman G.A., Tsang S.H., Gouras P., Dean M., Allikmets R. Analysis of the ABCA4 gene by next-generation sequencing. Invest Ophthalmol Vis Sci. 2011;52:8479–8487. DOI:10.1167/iovs.11-8182; Zernant J., Lee W., Collison F.T. Fishman G.A., Sergeev Y.V., Schuerch K., Sparrow J.R., Tsang S.H., Allikmets R. Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration. J Med Genet. 2017;54(6):404–412. DOI:10.1136/jmedgenet-2017-104540; Riveiro-Alvarez R., Lopez-Martinez M.A., Zernant J., Aguirre-Lamban J., Cantalapiedra D., Avila-Fernandez A., Gimenez A., Lopez-Molina M.I., Garcia-Sandoval B., Blanco-Kelly F., Corton M., Tatu S., Fernandez-San Jose P., Trujillo-Tiebas M.J., Ramos C., Allikmets R., Ayuso C. Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families. Ophthalmology. 2013;120(11):2332–2337. DOI:10.1016/j.ophtha.2013.04.002; Maugeri A., Klevering B.J., Rohrschneider K., Blankenagel A., Brunner H.G., Deutman A.F., Hoyng C.B., Cremers F.P. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet. 2000 Oct;67(4):960–966. DOI:10.1086/303079; Wiszniewski W., Zaremba C.M., Yatsenko A.N., Jamrich M., Wensel T.G., Lewis R.A., Lupski J.R. ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Hum Mol Genet. 2005;14:2769–2778. DOI:10.1093/hmg/ddi310; https://www.ophthalmojournal.com/opht/article/view/1697

الاتاحة: https://www.ophthalmojournal.com/opht/article/view/1697
https://doi.org/10.18008/1816-5095-2021-4-897-907

المؤلفون: I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, S. I. Kutsev, R. A. Zinchenko, И. В. Зольникова, В. В. Кадышев, А. В. Марахонов, С. И. Куцев, Р. А. Зинченко

المصدر: Ophthalmology in Russia; Том 18, № 1 (2021); 157-164 ; Офтальмология; Том 18, № 1 (2021); 157-164 ; 2500-0845 ; 1816-5095 ; 10.18008/1816-5095-2021-1

مصطلحات موضوعية: ОКТ, GJA1, DNA-diagnosis, electroretinogram, visual evoked potentials, OCT, ДНК-диагностика, электроретинография, зрительные вызванные потенциалы

وصف الملف: application/pdf

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الاتاحة: https://www.ophthalmojournal.com/opht/article/view/1450
https://doi.org/10.18008/1816-5095-2021-1-157-164

المؤلفون: M. E. Weener, D. S. Atarshchikov, V. V. Kadyshev, I. V. Zolnikova, A. M. Demchinsky, D. Barh, L. M. Balashova, J. M. Salmasi

المصدر: Российский офтальмологический журнал, Vol 14, Iss 1, Pp 80-88 (2021)

مصطلحات موضوعية: retinitis pigmentosa, tapetoretinal abiotrophy, pathophysiology, genetics, visual cycle, metabolic pathways, Ophthalmology, RE1-994

Relation: https://roj.igb.ru/jour/article/view/588; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760; https://doaj.org/article/859c3bbf08444417af37921d6045973e

الاتاحة: https://doi.org/10.21516/2072-0076-2021-14-1-80-88
https://doaj.org/article/859c3bbf08444417af37921d6045973e

المؤلفون: V. V. Neroev, L. A. Katargina, V. V. Kadyshev, I. V. Zolnikova, S. I. Kutsev

المصدر: Российский офтальмологический журнал, Vol 14, Iss 3, Pp 78-82 (2021)

مصطلحات موضوعية: leber congenital amaurosis, gene therapy, retinitis pigmentosa, genetics, heterogeneity, rpe65, voretigene neparvovec, Ophthalmology, RE1-994

Relation: https://roj.igb.ru/jour/article/view/722; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760; https://doaj.org/article/ec6b24b014894703822a2852f186d87f

الاتاحة: https://doi.org/10.21516/2072-0076-2021-14-3-78-82
https://doaj.org/article/ec6b24b014894703822a2852f186d87f

المؤلفون: I. V. Zolnikova, S. V. Milash, A. B. Chernyak, D. V. Levina, I. V. Egorova, E. V. Rogatina, E. A. Eremeeva, S. Y. Rogova, И. В. Зольникова, С. В. Милаш, А. Б. Черняк, Д. В. Левина, И. В. Егорова, Е. В. Рогатина, Е. А. Еремеева, С. Ю. Рогова

المصدر: Ophthalmology in Russia; Том 17, № 1 (2020); 81-87 ; Офтальмология; Том 17, № 1 (2020); 81-87 ; 2500-0845 ; 1816-5095 ; 10.18008/1816-5095-2020-1

مصطلحات موضوعية: слой нервных волокон сетчатки, retinitis pigmentosa, electroretinogram, macular ERG, OCT, segmentation of the retina, RNFL, GCL, INL, пигментный ретинит, электроретинограмма, макулярная ЭРГ, ОКТ, сегментация сетчатки, внутренний ядерный слой, слой ганглиозных клеток сетчатки

وصف الملف: application/pdf

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Retinitis Pigmentosa. Lancet. 2006;368(9549):1795–1809. DOI:10.1016/S0140-6736(06)69740-7; Barber A.C. Hippert C., Duran Y., West E.L., Bainbridge J.W., Warre-Cornish K., Luhmann U.F., Lakowski J., Sowden J.C., Ali R.R., Pearson R.A. Repair of the degenerate retina by photoreceptor transplantation. Proc Natl Acad Sci USA. 2013;110:354–359. DOI:10.1073/pnas.1212677110; Jacobson S.G., Cideciyan A.V. Treatment possibilities for retinitis pigmentosa. N Engl J Med. 2010;363:1669–1671. DOI: 10.56/NAJMcibr1007685; Bertolotti E., Neri A., Camparini M., Macaluso C., Marigo V. Stem cells as source for retinal pigment epithelium transplantation. Prog Retin Eye Res. 2014;42:130– 144. DOI:10.1016/j.preteyers.2014.06.002; Weiland J.D., Cho A.K., Humayun M.S. Retinal prostheses: current clinical results and future needs. Ophthalmology. 2011;118:2227–2237. DOI:10.1016/j.ophta.2011.08.042; Weiland J.D. Humayun M.S. Retinal prosthesis. IEEE Trans Biomed Eng. 2014;61:1412–1424. 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الاتاحة: https://www.ophthalmojournal.com/opht/article/view/1136
https://doi.org/10.18008/1816-5095-2020-1-81-87

المؤلفون: I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, R. A. Zinchenko, И. В. Зольникова, В. В. Кадышев, А. В. Марахонов, Р. А. Зинченко

المصدر: Medical Genetics; Том 19, № 8 (2020); 42-43 ; Медицинская генетика; Том 19, № 8 (2020); 42-43 ; 2073-7998

مصطلحات موضوعية: генетическая гетерогенность, genetics, ophthalmology, Stargardt’s disease, retinitis pigmentosa, clinical polymorphism, genetic heterogeneity, генетика, офтальмология, болезнь Штаргардта, пигментный ретинит, клинический полиморфизм

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1674/1310; https://www.medgen-journal.ru/jour/article/view/1674

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1674

المؤلفون: S. V. Milash, I. V. Zolnikova, V. V. Kadyshev

المصدر: Российский офтальмологический журнал, Vol 13, Iss 4, Pp 75-82 (2020)

مصطلحات موضوعية: adult-onset foveomacular vitelliform dystrophy, stargardt disease, fundus flavimaculatus, retinitis pigmentosa, сslo, faf, oct, retro mode, Ophthalmology, RE1-994

Relation: https://roj.igb.ru/jour/article/view/523; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760; https://doaj.org/article/6d04339d061e460db0a404a732200d82

الاتاحة: https://doi.org/10.21516/2072-0076-2020-13-4-75-82
https://doaj.org/article/6d04339d061e460db0a404a732200d82

المؤلفون: M. E. Ivanova, I. V. Zolnikova, I. E. Khatsenko, V. V. Strelnikov, F. A. Konovalov, E. R. Lozier, M. A. Ampleeva, A. V. Antonets, I. V. Kanivets, K. V. Gorgisheli, D. S. Atarshchikov, D. V. Pyankov, S. A. Korostelev, E. B. Kuznetsova, D. Bar, L. M. Balashova, Zh. M. Salmasi

المصدر: Российский офтальмологический журнал, Vol 13, Iss 1, Pp 12-22 (2020)

مصطلحات موضوعية: achromatopsia, achm, genes cnga3, cngb3, russian cohort, Ophthalmology, RE1-994

Relation: https://roj.igb.ru/jour/article/view/378; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760; https://doaj.org/article/92260456696c478c91e15c42a02ce1d3

الاتاحة: https://doi.org/10.21516/2072-0076-2020-13-1-12-22
https://doaj.org/article/92260456696c478c91e15c42a02ce1d3

المؤلفون: E. P. Tarutta, R. R. Khubieva, S. V. Milash, A. V. Apaev, N. A. Aklaeva, I. V. Zolnikova

المصدر: Russian Ophthalmological Journal. 15:109-119

مصطلحات موضوعية: Ophthalmology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::902091a6f2b45196a1bbc822e15caeb5
https://doi.org/10.21516/2072-0076-2022-15-2-109-119

المؤلفون: I. V. Zolnikova, S. V. Milash, V. V. Kadyshev, A. B. Chernyak, D. V. Levina, R. A. Zinchenko, I. V. Egorova, E. A. Eremeeva, S. Y. Rogova, И. В. Зольникова, С. В. Милаш, В. В. Кадышев, А. В. Черняк, Д. В. Левина, Р. А. Зинченко, И. В. Егорова, Е. А. Еремеева, С. Ю. Рогова

المصدر: Ophthalmology in Russia; Том 16, № 1 (2019); 124-130 ; Офтальмология; Том 16, № 1 (2019); 124-130 ; 2500-0845 ; 1816-5095 ; 10.18008/1816-5095-2019-1

مصطلحات موضوعية: ОКТ, CHM, electroretinography, OCT, электроретинография

وصف الملف: application/pdf

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الاتاحة: https://www.ophthalmojournal.com/opht/article/view/869
https://doi.org/10.18008/1816-5095-2019-1-124-130

المؤلفون: N. I . Kurysheva, E. V. Maslova, I. V. Zolnikova, A. V. Fomin, M. B. Lagutin, Н. И. Курышева, Е. В. Маслова, И. В. Зольникова, А. В. Фомин, М. Б. Лагутин

المصدر: National Journal glaucoma; Том 18, № 4 (2019); 15-34 ; Национальный журнал Глаукома; Том 18, № 4 (2019); 15-34 ; 2311-6862 ; 2078-4104

مصطلحات موضوعية: паттерн ЗВП, open-angle glaucoma, ocular blood flow, optical coherence tomography angiography, оптическая когерентная томография (ОКТ), ОКТ с функцией ангиографии, микроциркуляция макулы, ДЗН и перипапиллярная сетчатка, паттерн ЭРГ

وصف الملف: application/pdf

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الاتاحة: https://www.glaucomajournal.ru/jour/article/view/239
https://doi.org/10.25700/NJG.2019.04.02

المؤلفون: M. E. Ivanova, K. V. Gorgisheli, I. V. Zolnikova, D. S. Atarshchikov, D. Barh, Zh. M. Salmasi, L. M. Balashova

المصدر: Российский офтальмологический журнал, Vol 12, Iss 3, Pp 77-84 (2019)

مصطلحات موضوعية: csnb1a, nyx, congenital stationary night blindness, gene therapy, leucine-rich domain, Ophthalmology, RE1-994

Relation: https://roj.igb.ru/jour/article/view/304; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760; https://doaj.org/article/01aeb942b8a8469a9671f5327953e5ec

الاتاحة: https://doi.org/10.21516/2072-0076-2019-12-3-77-84
https://doaj.org/article/01aeb942b8a8469a9671f5327953e5ec

المؤلفون: I. V. Zolnikova, O. N. Demenkova, E. V. Rogatina, D. V. Levina, I. V. Egorova, S. Yu. Rogova

المصدر: Российский офтальмологический журнал, Vol 9, Iss 1, Pp 12-18 (2018)

مصطلحات موضوعية: пигментный ретинит, кистозный макулярный отек, электроретинография, световая чувствительность, периметрические индексы, retinitis pigmentosa, cystoid macular oedema, electroretinography, light sensitivity, perimetric indices, Ophthalmology, RE1-994

Relation: https://roj.igb.ru/jour/article/view/3; https://doaj.org/toc/2072-0076; https://doaj.org/toc/2587-5760; https://doaj.org/article/aa22abd163b745039d931438924733b9

الاتاحة: https://doi.org/10.21516/2072-0076-2016-9-1-12-18
https://doaj.org/article/aa22abd163b745039d931438924733b9

المؤلفون: N.P. Akchurina, Llc 'Oftalmic', N.K. Serova, J.M. Salmasi, L.M. Balashova, F.A. Konovalov, M.E. Ivanova, D.S. Atarshchikov, N.V. Vetrova, E.A. Pomerantseva, E.R. Lozier, V. V. Kadyshev, I. V. Zolnikova, Applied Biotechnology, D. Barh

المصدر: Clinical ophthalmology. :32-36

مصطلحات موضوعية: Ophthalmology, medicine.medical_specialty, Pathology, business.industry, Neurodegeneration, Mutation (genetic algorithm), medicine, Optic nerve atrophy, medicine.disease, business, Gene, Phenotype

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::81dae72d922c6f9f170d1f5938f1942d
https://doi.org/10.32364/2311-7729-2020-20-1-32-36

المؤلفون: Ketevan V. Gorgisheli, Dmitry S. Atarshchikov, Inna V. Zolnikova, Marianna E. Ivanova, Preetam Ghosh, Debmalya Barh

المصدر: Ophthalmic Genetics. 40:558-563

مصطلحات موضوعية: Genetics, Congenital stationary night blindness, Ophthalmology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Complete congenital stationary night blindness, Biology, Gene, Novel mutation, Genetics (clinical), X-linked recessive inheritance, Frameshift mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2ee5babe27c41300cb119723b9fd8a16
https://doi.org/10.1080/13816810.2019.1698617

المؤلفون: Natalia A. Skvortsova, Marianna E. Ivanova, Inna V. Zolnikova, Yulia A. Skvortsova

المصدر: Офтальмологические ведомости, Vol 11, Iss 4, Pp 93-98 (2018)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, genetic structures, GOLDMANN-FAVRE SYNDROME, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, lcsh:Ophthalmology, Medicine, nr2e3 mutation, goldmann-favre syndrome, General Environmental Science, business.industry, Retinal vasculitis, medicine.disease, Dermatology, enhanced s-cone syndrome, 030104 developmental biology, lcsh:RE1-994, Enhanced S-Cone Syndrome, retinal vasculitis, 030221 ophthalmology & optometry, Etiology, General Earth and Planetary Sciences, sense organs, Clinical case, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::267136316e7f3c399f9caccc5cd425ce
https://doi.org/10.17816/ov11493-98