Works about CORNEAL dystrophies

Results: 820
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    Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.

    Published in:
    Journal of Clinical Medicine, 2022, v. 11, n. 1, p. 22, doi. 10.3390/jcm11010022
    By:
    • Bermejo-Guerrero, Laura;
    • de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
    • Serrano-Lorenzo, Pablo;
    • Blázquez-Encinar, Alberto;
    • Gutiérrez-Gutiérrez, Gerardo;
    • Martínez-Vicente, Laura;
    • Galán-Dávila, Lucía;
    • García-García, Jorge;
    • Arenas, Joaquín;
    • Muelas, Nuria;
    • Hernández-Laín, Aurelio;
    • Domínguez-González, Cristina;
    • Martín, Miguel A.
    Publication type:
    Article
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    A Mutation in ZNF143 as a Novel Candidate Gene for Endothelial Corneal Dystrophy.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1174, doi. 10.3390/jcm8081174
    By:
    • Kim, Yonggoo;
    • You, Hye Jin;
    • Park, Shin Hae;
    • Kim, Man Soo;
    • Chae, Hyojin;
    • Park, Joonhong;
    • Jekarl, Dong Wook;
    • Kim, Jiyeon;
    • Kwon, Ahlm;
    • Choi, Hayoung;
    • Kim, Yeojae;
    • Paek, A Rome;
    • Lee, Ahwon;
    • Kim, Jung Min;
    • Park, Seon Young;
    • Kim, Yonghwan;
    • Joo, Keehyoung;
    • Lee, Jooyoung;
    • Jung, Jongsun;
    • Chung, So-Hyang
    Publication type:
    Article
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    Comprehensive identification of dysregulated extracellular matrix molecules in the corneal endothelium of patients with Fuchs endothelial corneal dystrophy.

    Published in:
    Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-91850-y
    By:
    • Inagaki, Soichiro;
    • Vaitinadapoule, Hanielle;
    • Yuasa, Taichi;
    • Nakagawa, Tatsuya;
    • Ikegawa, Masaya;
    • Toyama, Yumiko;
    • Nirasawa, Takashi;
    • Tokuda, Yuichi;
    • Nakano, Masakazu;
    • Tashiro, Kei;
    • Tourtas, Theofilos;
    • Schlötzer-Schrehardt, Ursula;
    • Kruse, Friedrich;
    • Aouimeur, Ines;
    • He, Zhiguo;
    • Gain, Philippe;
    • Koizumi, Noriko;
    • Thuret, Gilles;
    • Okumura, Naoki
    Publication type:
    Article
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