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Journal Abstract Search
230 related items for PubMed ID: 7550309
1. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Jacobson SG, Cideciyan AV, Regunath G, Rodriguez FJ, Vandenburgh K, Sheffield VC, Stone EM. Nat Genet; 1995 Sep; 11(1):27-32. PubMed ID: 7550309 [Abstract] [Full Text] [Related]
2. Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy. Steinmetz RL, Polkinghorne PC, Fitzke FW, Kemp CM, Bird AC. Invest Ophthalmol Vis Sci; 1992 Apr; 33(5):1633-6. PubMed ID: 1559761 [Abstract] [Full Text] [Related]
3. Sorsby's fundus dystrophy. A South African family with a point mutation on the tissue inhibitor of metalloproteinases-3 gene on chromosome 22. Peters AL, Greenberg J. Retina; 1995 Apr; 15(6):480-5. PubMed ID: 8747441 [Abstract] [Full Text] [Related]
4. Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells. Langton KP, McKie N, Smith BM, Brown NJ, Barker MD. Hum Mol Genet; 2005 Dec 01; 14(23):3579-86. PubMed ID: 16223891 [Abstract] [Full Text] [Related]
5. Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency. Cideciyan AV, Pugh EN, Lamb TD, Huang Y, Jacobson SG. Invest Ophthalmol Vis Sci; 1997 Aug 01; 38(9):1786-94. PubMed ID: 9286267 [Abstract] [Full Text] [Related]
6. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Weber BH, Vogt G, Pruett RC, Stöhr H, Felbor U. Nat Genet; 1994 Dec 01; 8(4):352-6. PubMed ID: 7894485 [Abstract] [Full Text] [Related]
9. Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. Felbor U, Doepner D, Schneider U, Zrenner E, Weber BH. Invest Ophthalmol Vis Sci; 1997 May 01; 38(6):1054-9. PubMed ID: 9152224 [Abstract] [Full Text] [Related]
12. Phenotypic variation in enhanced S-cone syndrome. Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE. Invest Ophthalmol Vis Sci; 2008 May 01; 49(5):2082-93. PubMed ID: 18436841 [Abstract] [Full Text] [Related]
13. TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy. Chong NH, Alexander RA, Gin T, Bird AC, Luthert PJ. Invest Ophthalmol Vis Sci; 2000 Mar 01; 41(3):898-902. PubMed ID: 10711711 [Abstract] [Full Text] [Related]
14. Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa. Fariss RN, Apte SS, Luthert PJ, Bird AC, Milam AH. Br J Ophthalmol; 1998 Nov 01; 82(11):1329-34. PubMed ID: 9924344 [Abstract] [Full Text] [Related]
15. A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy. Lin RJ, Blumenkranz MS, Binkley J, Wu K, Vollrath D. Am J Ophthalmol; 2006 Nov 01; 142(5):839-48. PubMed ID: 16989765 [Abstract] [Full Text] [Related]
16. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. Felbor U, Suvanto EA, Forsius HR, Eriksson AW, Weber BH. Am J Hum Genet; 1997 Jan 01; 60(1):57-62. PubMed ID: 8981947 [Abstract] [Full Text] [Related]
17. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Alemán TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG. Invest Ophthalmol Vis Sci; 1999 Aug 01; 40(9):2106-14. PubMed ID: 10440267 [Abstract] [Full Text] [Related]