Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Voronchikhina, Marina"'
Autor:
Biswas, Pooja, Borooah, Shyamanga, Matsui, Hiroko, Voronchikhina, Marina, Zhou, Jason, Zawaydeh, Qais, Raghavendra, Pongali B, Ferreyra, Henry, Riazuddin, S Amer, Wahlin, Karl, Frazer, Kelly A, Ayyagari, Radha
Publikováno v:
Human mutation, vol 42, iss 2
Inherited retinal degenerations (IRDs) are a group of genetically heterogeneous conditions with a broad phenotypic heterogeneity. Here, we report detection and validation of the underlying cause of progressive retinal degeneration in a nuclear family
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::9de6d4f28bae852f7ec576bedb402c08
https://escholarship.org/uc/item/7vk3p6k1
https://escholarship.org/uc/item/7vk3p6k1
Autor:
Chekuri, Anil, Zientara-Rytter, Katarzyna, Soto-Hermida, Angel, Borooah, Shyamanga, Voronchikhina, Marina, Biswas, Pooja, Kumar, Virender, Goodsell, David, Hayward, Caroline, Shaw, Peter, Stanton, Chloe, Garland, Donita, Subramani, Suresh, Ayyagari, Radha
Publikováno v:
Aging cell, vol 18, iss 6
Late-onset retinal degeneration (L-ORD) is an autosomal dominant macular degeneration characterized by the formation of sub-retinal pigment epithelium (RPE) deposits and neuroretinal atrophy. L-ORD results from mutations in the C1q-tumor necrosis fac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::23170e90ebc1bba3702b4c58e1140bc8
https://escholarship.org/uc/item/0hb7w0bv
https://escholarship.org/uc/item/0hb7w0bv
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Chekuri, Anil, Sahu, Bhubanananda, Chavali, Venkata Ramana Murthy, Voronchikhina, Marina, Soto-Hermida, Angel, Suk, John J, Alapati, Akhila N, Bartsch, Dirk-Uwe, Ayala-Ramirez, Raul, Zenteno, Juan C, Dinculescu, Astra, Jablonski, Monica M, Borooah, Shyamanga, Ayyagari, Radha
Publikováno v:
Human gene therapy, vol 30, iss 5
Patients harboring homozygous c.498_499insC mutations in MFRP demonstrate hyperopia, microphthalmia, retinitis pigmentosa, retinal pigment epithelial atrophy, variable degrees of foveal edema, and optic disc drusen. The disease phenotype is variable,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::918000e240e28bd4393078c7e078c9d5
https://escholarship.org/uc/item/34p3z132
https://escholarship.org/uc/item/34p3z132
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Biswas, Pooja, Borooah, Shyamanga, Matsui, Hiroko, Voronchikhina, Marina, Zhou, Jason, Zawaydeh, Qais, Raghavendra, Pongali B., Ferreyra, Henry, Riazuddin, S. Amer, Wahlin, Karl, Frazer, Kelly A., Ayyagari, Radha
Publikováno v:
Human Mutation; Feb2021, Vol. 42 Issue 2, pi-i, 1p
Autor:
Biswas P; Shiley Eye Institute, University of California San Diego, La Jolla, California, USA.; REVA University, Bengaluru, Karnataka, India., Borooah S; Shiley Eye Institute, University of California San Diego, La Jolla, California, USA., Matsui H; Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, USA., Voronchikhina M; Shiley Eye Institute, University of California San Diego, La Jolla, California, USA., Zhou J; Shiley Eye Institute, University of California San Diego, La Jolla, California, USA., Zawaydeh Q; Shiley Eye Institute, University of California San Diego, La Jolla, California, USA., Raghavendra PB; REVA University, Bengaluru, Karnataka, India.; School of Regenerative Medicine, Manipal University-MAHE, Bangalore, India., Ferreyra H; Shiley Eye Institute, University of California San Diego, La Jolla, California, USA., Riazuddin SA; Wilmer Eye Institute, Johns Hopkins Univesity School of Medicine, Baltimore, Maryland, USA., Wahlin K; Shiley Eye Institute, University of California San Diego, La Jolla, California, USA., Frazer KA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, USA.; Department of Pediatrics, Rady Children's Hospital, Division of Genome Information Sciences, San Diego, California, USA., Ayyagari R; Shiley Eye Institute, University of California San Diego, La Jolla, California, USA.
Publikováno v:
Human mutation [Hum Mutat] 2021 Feb; Vol. 42 (2), pp. 189-199. Date of Electronic Publication: 2020 Dec 13.
Autor:
Chekuri A; Shiley Eye Institute, University of California San Diego, San Diego, CA, USA., Zientara-Rytter K; Division of Biological Sciences, University of California San Diego, San Diego, CA, USA., Soto-Hermida A; Shiley Eye Institute, University of California San Diego, San Diego, CA, USA., Borooah S; Shiley Eye Institute, University of California San Diego, San Diego, CA, USA., Voronchikhina M; Shiley Eye Institute, University of California San Diego, San Diego, CA, USA., Biswas P; Shiley Eye Institute, University of California San Diego, San Diego, CA, USA., Kumar V; Shiley Eye Institute, University of California San Diego, San Diego, CA, USA., Goodsell D; Integrative Structural and Computational Biology (ISCB), Scripps Research Institute, San Diego, CA, USA., Hayward C; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Shaw P; Shiley Eye Institute, University of California San Diego, San Diego, CA, USA., Stanton C; Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK., Garland D; Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Subramani S; Division of Biological Sciences, University of California San Diego, San Diego, CA, USA., Ayyagari R; Shiley Eye Institute, University of California San Diego, San Diego, CA, USA.
Publikováno v:
Aging cell [Aging Cell] 2019 Dec; Vol. 18 (6), pp. e13011. Date of Electronic Publication: 2019 Aug 05.