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Journal Abstract Search

394 related items for PubMed ID: 25293953

  • 1. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
    Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR, FORGE Canada Consortium, Héon E.
    J Med Genet; 2014 Dec; 51(12):797-805. PubMed ID: 25293953
    [Abstract] [Full Text] [Related]

  • 2. A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.
    Meunier I, Lenaers G, Bocquet B, Baudoin C, Piro-Megy C, Cubizolle A, Quilès M, Jean-Charles A, Cohen SY, Merle H, Gaudric A, Labesse G, Manes G, Péquignot M, Cazevieille C, Dhaenens CM, Fichard A, Ronkina N, Arthur SJ, Gaestel M, Hamel CP.
    Hum Mol Genet; 2016 Mar 01; 25(5):916-26. PubMed ID: 26744326
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  • 3. Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.
    Catania A, Legati A, Peverelli L, Nanetti L, Marchet S, Zanetti N, Lamperti C, Ghezzi D.
    Am J Med Genet A; 2019 May 01; 179(5):827-831. PubMed ID: 30773800
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  • 4. 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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  • 5. A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.
    Oliver VF, van Bysterveldt KA, Cadzow M, Steger B, Romano V, Markie D, Hewitt AW, Mackey DA, Willoughby CE, Sherwin T, Crosier PS, McGhee CN, Vincent AL.
    Ophthalmology; 2016 Apr 09; 123(4):709-22. PubMed ID: 26786512
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  • 6. Regulation of the human tyrosinase gene in retinal pigment epithelium cells: the significance of transcription factor orthodenticle homeobox 2 and its polymorphic binding site.
    Reinisalo M, Putula J, Mannermaa E, Urtti A, Honkakoski P.
    Mol Vis; 2012 Apr 09; 18():38-54. PubMed ID: 22259223
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  • 7. The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
    Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C.
    Hum Mol Genet; 2014 Jan 15; 23(2):491-501. PubMed ID: 24026677
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  • 13. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.
    Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199
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  • 15. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
    Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P.
    Graefes Arch Clin Exp Ophthalmol; 2016 Sep 10; 254(9):1833-9. PubMed ID: 27113771
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  • 18. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
    Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT.
    Invest Ophthalmol Vis Sci; 2012 Jun 22; 53(7):3927-38. PubMed ID: 22570351
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