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Journal Abstract Search

137 related items for PubMed ID: 17057173

  • 1. Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy.
    Urquhart JE, Biswas S, Black GC, Munier FL, Sutphin J.
    Br J Ophthalmol; 2006 Nov; 90(11):1430-1. PubMed ID: 17057173
    [No Abstract] [Full Text] [Related]

  • 2. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
    Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC.
    Hum Mol Genet; 2001 Oct 01; 10(21):2415-23. PubMed ID: 11689488
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  • 3. Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
    Lechner J, Dash DP, Muszynska D, Hosseini M, Segev F, George S, Frazer DG, Moore JE, Kaye SB, Young T, Simpson DA, Churchill AJ, Héon E, Willoughby CE.
    Invest Ophthalmol Vis Sci; 2013 May 03; 54(5):3215-23. PubMed ID: 23599324
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  • 4. Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.
    Kuot A, Mills R, Craig JE, Sharma S, Burdon KP.
    Clin Exp Ophthalmol; 2014 Mar 03; 42(2):198-200. PubMed ID: 23601356
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  • 5. [Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy].
    Clausen I, Weidle E, Duncker G, Grünauer-Kloevekorn C.
    Klin Monbl Augenheilkd; 2009 Jun 03; 226(6):466-9. PubMed ID: 19507099
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  • 7. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.
    Kobayashi A, Fujiki K, Murakami A, Kato T, Chen LZ, Onoe H, Nakayasu K, Sakurai M, Takahashi M, Sugiyama K, Kanai A.
    Jpn J Ophthalmol; 2004 Jun 03; 48(3):195-8. PubMed ID: 15175909
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  • 9. British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.
    Liskova P, Prescott Q, Bhattacharya SS, Tuft SJ.
    Br J Ophthalmol; 2007 Dec 03; 91(12):1717-8. PubMed ID: 18024822
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  • 10. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene.
    Gottsch JD, Zhang C, Sundin OH, Bell WR, Stark WJ, Green WR.
    Invest Ophthalmol Vis Sci; 2005 Dec 03; 46(12):4504-11. PubMed ID: 16303941
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  • 11. Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation.
    Zhang C, Bell WR, Sundin OH, De La Cruz Z, Stark WJ, Green WR, Gottsch JD.
    Trans Am Ophthalmol Soc; 2006 Dec 03; 104():85-97. PubMed ID: 17471329
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  • 12. [Fuchs' gyrate atrophy and ornithine aminotransferase deficiency].
    Orssaud C, Dufier JL, Rozenbaum J, Manderieux N, Debauchez J, Bonnefont JP, Saudubray JM.
    Bull Soc Ophtalmol Fr; 1988 Dec 03; 88(6-7):773-5. PubMed ID: 3266478
    [No Abstract] [Full Text] [Related]

  • 13. Hereditary Fuchs' dystrophy.
    Sidrys LA.
    Am J Ophthalmol; 1981 Feb 03; 91(2):277-8. PubMed ID: 6970524
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  • 14. Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.
    Kim JH, Ko JM, Tchah H.
    Ophthalmic Genet; 2015 Feb 03; 36(3):284-6. PubMed ID: 24502824
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  • 15. [Review on corneal dystrophies].
    Dighiero P, Ellies P, Grateau G, D'Hermies F, Pouliquen Y, Legeais JM, Renard G.
    J Fr Ophtalmol; 1999 Mar 03; 22(2):226-33. PubMed ID: 10327356
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