Advanced search
Publication Cover
Ophthalmic Genetics Volume 39, 2018 - Issue 6
Submit an article Journal homepage
426
Views
10
CrossRef citations to date
0
Altmetric
Research Reports

Genetic screening of Russian Usher syndrome patients toward selection for gene therapy

Marianna E. IvanovaOftalmic LLC, Moscow, RussiaView further author information
,
Vladimir N. TrubilinCenter of Ophthalmology, Federal Medical-Biological Agency State Research Center, Burnasyan, Moscow, RussiaView further author information
,
Dmitry S. AtarshchikovCentral Clinical Hospital under President Affairs, Moscow, RussiaView further author information
,
Andrey M. DemchinskySensor-Tech Scientific and Industrial Laboratory, Moscow, RussiaView further author information
,
Vladimir V. StrelnikovFederal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, RussiaView further author information
,
Alexander S. TanasFederal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, RussiaView further author information
,
Olga M. OrlovaCenter of Ophthalmology, Federal Medical-Biological Agency State Research Center, Burnasyan, Moscow, RussiaView further author information
,
Anton S. MachalovSurdology and Otoneurology Departments, Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia, Moscow, RussiaView further author information
,
Kira V. OverchenkoSurdology and Otoneurology Departments, Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia, Moscow, RussiaView further author information
,
Tatiana V. MarkovaFederal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, RussiaView further author information
,
Daria M. GolenkovaCenter of Ophthalmology, Federal Medical-Biological Agency State Research Center, Burnasyan, Moscow, RussiaView further author information
,
Kirill I. AnoshkinFederal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, RussiaView further author information
,
Ilya V. VolodinFederal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, RussiaView further author information
,
Dmitry V. ZaletaevLaboratory of Medical Genetics, Institute of Molecular Medicine, I. M. Sechenov First Moscow State Medical University, Moscow, RussiaView further author information
,
Andrey A. PulinLaboratory of Cell Biology and Developmental Pathology, Federal State Budgetary Scientific Institution “Institute of General Pathology and Pathophysiology”, Moscow, RussiaView further author information
,
Irina I. NadelyaevaFederal State Budget Institution of Higher Education, A.I. Yevdokimov Moscow State University of Medicine and Dentistry, The Ministry of Health Care of the RussiaView further author information
,
Alexey I. KalinkinFederal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russia;Laboratory of Medical Genetics, Institute of Molecular Medicine, I. M. Sechenov First Moscow State Medical University, Moscow, RussiaView further author information
&
Debmalya BarhCenter for Genomics and Applied Gene Technology, Institute of Integrative Omics and Applied Biotechnology (IIOAB), Nonakuri, Purba Medinipur, West Bengal, India;Division of Bioinformatics and Computational Genomics, NITTE University Center for Science Education and Research (NUCSER), NITTE (Deemed to be University), Mangaluru, Karnataka, IndiaCorrespondence[email protected]
View further author information
 show all
Pages 706-713 | Received 14 Jul 2018, Accepted 30 Sep 2018, Published online: 25 Oct 2018

Citations (10)

Keep up to date with the latest research on this topic with citation updates for this article.

Subscribe to citation updates

Read on this site (1)

Marianna E. Ivanova, Inna V. Zolnikova, Ketevan V. Gorgisheli, Dmitry S. Atarshchikov, Preetam Ghosh & Debmalya Barh. (2019) Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness. Ophthalmic Genetics 40:6, pages 558-563.
Read now

Articles from other publishers (9)

Olga Shatokhina, Nailya Galeeva, Anna Stepanova, Tatiana Markova, Maria Lalayants, Natalia Alekseeva, George Tavarkiladze, Tatiana Markova, Liudmila Bessonova, Marina Petukhova, Daria Guseva, Inga Anisimova, Alexander Polyakov, Oxana Ryzhkova & Elena Bliznetz. (2022) Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel. International Journal of Molecular Sciences 23:24, pages 15748.
Crossref
T.G. Markova, M.R. Lalayants, N.N. Alekseeva, O.P. Ryzhkova, O.L. Shatokhina, N.M. Galeeva, E.A. Bliznetz, M.E. Weener, O.A. Belov, S.S. Chibisova, A.V. Polyakov & G.A. Tavartkiladze. (2022) Early audiological phenotype in patients with mutations in the USH2A gene. International Journal of Pediatric Otorhinolaryngology 157, pages 111140.
Crossref
T.G. Markova, N.N. Alekseeva, O.A. Belov, T.I. Chugunova & E.R. Tsygankova. (2022) Hearing loss due to mutations in the genes responsible for Usher syndrome. Vestnik otorinolaringologii 87:1, pages 52.
Crossref
Camron Davies, Jenna Bergman, Carly Misztal, Renuka Ramchandran, Jeenu Mittal, Erdogan Bulut, Viraj Shah, Rahul Mittal & Adrien A. Eshraghi. (2021) The Outcomes of Cochlear Implantation in Usher Syndrome: A Systematic Review. Journal of Clinical Medicine 10:13, pages 2915.
Crossref
Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig & Anne-Françoise Roux. (2020) A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1. Frontiers in Genetics 11.
Crossref
Lianmei Zhang, Jingliang Cheng, Qi Zhou, Md. Asaduzzaman Khan, Jiewen Fu, Chengxia Duan, Suan Sun, Hongbin Lv & Junjiang Fu. (2020) Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient. Frontiers in Genetics 11.
Crossref
Andrej Zupan, Ana Fakin, Saba Battelino, Martina Jarc-Vidmar, Marko Hawlina, Crystel Bonnet, Christine Petit & Damjan Glavač. (2019) Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation. Genes 10:12, pages 1015.
Crossref
Stefania Lenarduzzi, Anna Morgan, Flavio Faletra, Stefania Cappellani, Marcello Morgutti, Massimo Mezzavilla, Adelaide Peruzzi, Sara Ghiselli, Umberto Ambrosetti, Claudio Graziano, Marco Seri, Paolo Gasparini & Giorgia Girotto. (2019) Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss. Hearing Research 381, pages 107769.
Crossref
M. E. Ivanova, K. V. Gorgisheli, I. V. Zolnikova, D. S. Atarshchikov, D. BarhZh. M. Salmasi & L. M. Balashova. (2019) Pathogenesis and clinical features of congenital stationary night blindness in case of c.283delC NYX gene mutation. Russian Ophthalmological Journal 12:3, pages 77-84.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.