Works matching Genetics of retinal degeneration

Results: 331
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    A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds.

    Published in:
    Genetics Selection Evolution, 2016, v. 48, p. 1, doi. 10.1186/s12711-016-0232-y
    By:
    • Michot, Pauline;
    • Chahory, Sabine;
    • Marete, Andrew;
    • Grohs, Cécile;
    • Dagios, Dimitri;
    • Donzel, Elise;
    • Aboukadiri, Abdelhak;
    • Deloche, Marie-Christine;
    • Allais-Bonnet, Aurélie;
    • Chambrial, Matthieu;
    • Barbey, Sarah;
    • Genestout, Lucie;
    • Boussaha, Mekki;
    • Danchin-Burge, Coralie;
    • Fritz, Sébastien;
    • Boichard, Didier;
    • Capitan, Aurélien
    Publication type:
    Article
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    Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

    Published in:
    Journal of Ophthalmology, 2018, p. 1, doi. 10.1155/2018/5706142
    By:
    • Smaragda, Kamakari;
    • Vassiliki, Kokkinou;
    • George, Koutsodontis;
    • Polixeni, Stamatiou;
    • Christoforos, Giatzakis;
    • Anastasios, Anastasakis;
    • Minas, Aslanides Ioannis;
    • Stavrenia, Koukoula;
    • Theoni, Panagiotoglou;
    • Ioannis, Datseris;
    • Miltiadis, Tsilimbaris K.
    Publication type:
    Article
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    Emerging therapies for inherited retinal degeneration.

    Published in:
    Science Translational Medicine, 2016, v. 8, n. 368, p. 1, doi. 10.1126/scitranslmed.aaf2838
    By:
    • Scholl, Hendrik P. N.;
    • Strauss, Rupert W.;
    • Singh, Mandeep S.;
    • Dalkara, Deniz;
    • Roska, Botond;
    • Picaud, Serge;
    • Sahel, José-Alain
    Publication type:
    Article
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    Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.

    Published in:
    Genes, 2019, v. 10, n. 12, p. 959, doi. 10.3390/genes10120959
    By:
    • Tracewska, Anna M.;
    • Kocyła-Karczmarewicz, Beata;
    • Rafalska, Agnieszka;
    • Murawska, Joanna;
    • Jakubaszko-Jablonska, Joanna;
    • Rydzanicz, Małgorzata;
    • Stawiński, Piotr;
    • Ciara, Elżbieta;
    • Khan, Muhammad Imran;
    • Henkes, Arjen;
    • Hoischen, Alexander;
    • Gilissen, Christian;
    • van de Vorst, Maartje;
    • Cremers, Frans P. M.;
    • Płoski, Rafał;
    • Chrzanowska, Krystyna H.
    Publication type:
    Article
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    Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.

    Published in:
    Nature Genetics, 2011, v. 43, n. 10, p. 1001, doi. 10.1038/ng.938
    By:
    • Arakawa, Satoshi;
    • Takahashi, Atsushi;
    • Ashikawa, Kyota;
    • Hosono, Naoya;
    • Aoi, Tomomi;
    • Yasuda, Miho;
    • Oshima, Yuji;
    • Yoshida, Shigeo;
    • Enaida, Hiroshi;
    • Tsuchihashi, Takashi;
    • Mori, Keisuke;
    • Honda, Shigeru;
    • Negi, Akira;
    • Arakawa, Akira;
    • Kadonosono, Kazuaki;
    • Kiyohara, Yutaka;
    • Kamatani, Naoyuki;
    • Nakamura, Yusuke;
    • Ishibashi, Tatsuro;
    • Kubo, Michiaki
    Publication type:
    Article
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