Works matching DE "GENETICS of retinal degeneration"

Results: 118
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    Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

    Published in:
    Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 531, doi. 10.1002/mgg3.312
    By:
    • Neuhaus, Christine;
    • Eisenberger, Tobias;
    • Decker, Christian;
    • Nagl, Sandra;
    • Blank, Cornelia;
    • Pfister, Markus;
    • Kennerknecht, Ingo;
    • Müller ‐ Hofstede, Cornelie;
    • Charbel Issa, Peter;
    • Heller, Raoul;
    • Beck, Bodo;
    • Rüther, Klaus;
    • Mitter, Diana;
    • Rohrschneider, Klaus;
    • Steinhauer, Ute;
    • Korbmacher, Heike M.;
    • Huhle, Dagmar;
    • Elsayed, Solaf M.;
    • Taha, Hesham M.;
    • Baig, Shahid M.
    Publication type:
    Article
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    AMD Genetics in India: The Missing Links.

    Published in:
    Frontiers in Aging Neuroscience, 2016, p. 1, doi. 10.3389/fnagi.2016.00115
    By:
    • Akshay Anand;
    • Sharma, Kaushal;
    • Sharma, Suresh K.;
    • Singh, Ramandeep;
    • Sharma, Neel K.;
    • Prasad, Keshava
    Publication type:
    Article
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    IN THE JOURNALS.

    Published in:
    Ocular Surgery News, 2014, v. 32, n. 16, p. 27
    By:
    • Hasson, Matt
    Publication type:
    Article
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    In the Journals.

    Published in:
    Ocular Surgery News, 2012, v. 30, n. 22, p. 10
    By:
    • Osn Retina Staff Writers
    Publication type:
    Article
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    ER stress protects from retinal degeneration.

    Published in:
    EMBO Journal, 2009, v. 28, n. 9, p. 1296, doi. 10.1038/emboj.2009.76
    By:
    • Mendes, César S.;
    • Levet, Clémence;
    • Chatelain, Gilles;
    • Dourlen, Pierre;
    • Fouillet, Antoine;
    • Dichtel-Danjoy, Marie-Laure;
    • Gambis, Alexis;
    • Hyung Don Ryoo;
    • Steller, Hermann;
    • Mollereau, Bertrand
    Publication type:
    Article
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    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81093-y
    By:
    • Perea-Romero, Irene;
    • Gordo, Gema;
    • Iancu, Ionut F.;
    • Del Pozo-Valero, Marta;
    • Almoguera, Berta;
    • Blanco-Kelly, Fiona;
    • Carreño, Ester;
    • Jimenez-Rolando, Belen;
    • Lopez-Rodriguez, Rosario;
    • Lorda-Sanchez, Isabel;
    • Martin-Merida, Inmaculada;
    • Pérez de Ayala, Lucia;
    • Riveiro-Alvarez, Rosa;
    • Rodriguez-Pinilla, Elvira;
    • Tahsin-Swafiri, Saoud;
    • Trujillo-Tiebas, Maria J.;
    • The ESRETNET Study Group;
    • Bustamante-Aragones, Ana;
    • Cardero-Merlo, Rocio;
    • Fernandez-Sanchez, Ruth
    Publication type:
    Article
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    Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65737-z
    By:
    • Fujinami-Yokokawa, Yu;
    • Fujinami, Kaoru;
    • Kuniyoshi, Kazuki;
    • Hayashi, Takaaki;
    • Ueno, Shinji;
    • Mizota, Atsushi;
    • Shinoda, Kei;
    • Arno, Gavin;
    • Pontikos, Nikolas;
    • Yang, Lizhu;
    • Liu, Xiao;
    • Sakuramoto, Hiroyuki;
    • Katagiri, Satoshi;
    • Mizobuchi, Kei;
    • Kominami, Taro;
    • Terasaki, Hiroko;
    • Nakamura, Natsuko;
    • Kameya, Shuhei;
    • Yoshitake, Kazutoshi;
    • Miyake, Yozo
    Publication type:
    Article
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    Corrigendum to “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. 10.1155/2018/3039672
    By:
    • Kamakari, Smaragda;
    • Kokkinou, Vassiliki;
    • Koutsodontis, George;
    • Stamatiou, Polixeni;
    • Giatzakis, Christoforos;
    • Anastasakis, Anastasios;
    • Aslanides, Ioannis Minas;
    • Koukoula, Stavrenia;
    • Panagiotoglou, Theoni;
    • Datseris, Ioannis;
    • Tsilimbaris, Miltiadis K.
    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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    Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

    Published in:
    PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168966
    By:
    • de Castro-Miró, Marta;
    • Tonda, Raul;
    • Escudero-Ferruz, Paula;
    • Andrés, Rosa;
    • Mayor-Lorenzo, Andrés;
    • Castro, Joaquín;
    • Ciccioli, Marcela;
    • Hidalgo, Daniel A.;
    • Rodríguez-Ezcurra, Juan José;
    • Farrando, Jorge;
    • Pérez-Santonja, Juan J.;
    • Cormand, Bru;
    • Marfany, Gemma;
    • Gonzàlez-Duarte, Roser
    Publication type:
    Article
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    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

    Published in:
    PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0151943
    By:
    • Sanchez-Alcudia, Rocio;
    • Garcia-Hoyos, Maria;
    • Lopez-Martinez, Miguel Angel;
    • Sanchez-Bolivar, Noelia;
    • Zurita, Olga;
    • Gimenez, Ascension;
    • Villaverde, Cristina;
    • Rodrigues-Jacy da Silva, Luciana;
    • Corton, Marta;
    • Perez-Carro, Raquel;
    • Torriano, Simona;
    • Kalatzis, Vasiliki;
    • Rivolta, Carlo;
    • Avila-Fernandez, Almudena;
    • Lorda, Isabel;
    • Trujillo-Tiebas, Maria J.;
    • Garcia-Sandoval, Blanca;
    • Lopez-Molina, Maria Isabel;
    • Blanco-Kelly, Fiona;
    • Riveiro-Alvarez, Rosa
    Publication type:
    Article
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    Mutation of ATF6 causes autosomal recessive achromatopsia.

    Published in:
    Human Genetics, 2015, v. 134, n. 9, p. 941, doi. 10.1007/s00439-015-1571-4
    By:
    • Ansar, Muhammad;
    • Santos-Cortez, Regie;
    • Saqib, Muhammad;
    • Zulfiqar, Fareeha;
    • Lee, Kwanghyuk;
    • Ashraf, Naeem;
    • Ullah, Ehsan;
    • Wang, Xin;
    • Sajid, Sundus;
    • Khan, Falak;
    • Amin-ud-Din, Muhammad;
    • Smith, Joshua;
    • Shendure, Jay;
    • Bamshad, Michael;
    • Nickerson, Deborah;
    • Hameed, Abdul;
    • Riazuddin, Saima;
    • Ahmed, Zubair;
    • Ahmad, Wasim;
    • Leal, Suzanne
    Publication type:
    Article
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    Twin studies in inherited eye disease.

    Published in:
    Clinical & Experimental Ophthalmology, 2014, v. 42, n. 1, p. 84, doi. 10.1111/ceo.12233
    By:
    • Nag, Abhishek;
    • Hammond, Christopher J
    Publication type:
    Article
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