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Journal Abstract Search

812 related items for PubMed ID: 25113443

  • 1. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T.
    Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
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  • 2. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
    van Huet RA, Estrada-Cuzcano A, Banin E, Rotenstreich Y, Hipp S, Kohl S, Hoyng CB, den Hollander AI, Collin RW, Klevering BJ.
    Invest Ophthalmol Vis Sci; 2013 Jul 12; 54(7):4683-90. PubMed ID: 23788369
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  • 3. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.
    Ophthalmology; 2013 Jun 12; 120(6):1239-46. PubMed ID: 23499059
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  • 4. Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.
    El-Haig WM, Jakobsson C, Favez T, Schorderet DF, Abouzeid H.
    Br J Ophthalmol; 2014 Dec 12; 98(12):1718-23. PubMed ID: 25091951
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  • 5. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
    Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.
    Ophthalmology; 2014 Aug 12; 121(8):1620-7. PubMed ID: 24697911
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  • 9. Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
    Katagiri S, Akahori M, Hayashi T, Yoshitake K, Gekka T, Ikeo K, Tsuneoka H, Iwata T.
    Doc Ophthalmol; 2014 Jun 12; 128(3):211-7. PubMed ID: 24652164
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  • 10. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.
    Ophthalmic Genet; 2014 Sep 12; 35(3):130-7. PubMed ID: 23767994
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  • 13. Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
    Kuniyoshi K, Sakuramoto H, Yoshitake K, Abe K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T.
    Doc Ophthalmol; 2014 Jun 12; 128(3):219-28. PubMed ID: 24752437
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  • 14. Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
    Manes G, Mamouni S, Hérald E, Richard AC, Sénéchal A, Aouad K, Bocquet B, Meunier I, Hamel CP.
    Mol Vis; 2017 Jun 12; 23():198-209. PubMed ID: 28442884
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  • 15. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
    Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D.
    Acta Ophthalmol; 2015 Jun 12; 93(4):e281-6. PubMed ID: 25429852
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  • 17. A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
    Khan AO, Bergmann C, Neuhaus C, Bolz HJ.
    Ophthalmic Genet; 2015 Mar 12; 36(1):79-84. PubMed ID: 25475713
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  • 19. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
    Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT.
    Invest Ophthalmol Vis Sci; 2011 May 09; 52(6):3032-8. PubMed ID: 21310915
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  • 20. A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.
    Rahner N, Nuernberg G, Finis D, Nuernberg P, Royer-Pokora B.
    Ophthalmic Genet; 2016 Sep 09; 37(3):294-300. PubMed ID: 26865426
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