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405 related items for PubMed ID: 16652336

  • 1. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
    Boutboul S, Black GC, Moore JE, Sinton J, Menasche M, Munier FL, Laroche L, Abitbol M, Schorderet DF.
    Hum Mutat; 2006 Jun; 27(6):553-7. PubMed ID: 16652336
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  • 3. A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene.
    Aldave AJ, Rayner SA, King JA, Affeldt JA, Yellore VS.
    Ophthalmology; 2005 Jun; 112(6):1017-22. PubMed ID: 15885785
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  • 5. [Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?].
    Grünauer-Kloevekorn C, Bräutigam S, Wolter-Roessler M, Tost F, Weidle E, Froster U, Duncker GI.
    Klin Monbl Augenheilkd; 2005 Dec; 222(12):1017-23. PubMed ID: 16380889
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  • 6. Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions.
    Aldave AJ, Lin DY, Principe AH, Yellore VS, Weissman BA.
    Am J Ophthalmol; 2004 Jun; 137(6):1124-7. PubMed ID: 15183802
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  • 7. [Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies].
    Jin T, Zou LH, Yang L, Dong WL, Yu J, Lu L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):32-4. PubMed ID: 14767905
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  • 8. TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.
    Gruenauer-Kloevekorn C, Clausen I, Weidle E, Wolter-Roessler M, Tost F, Völcker HE, Schulze DP, Heinritz W, Reinhard T, Froster U, Duncker G, Schorderet D, Auw-Haedrich C.
    Br J Ophthalmol; 2009 Jul; 93(7):932-7. PubMed ID: 19001012
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  • 9. TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients.
    Vincent AL, de Karolyi B, Patel DV, Wheeldon CE, McGhee CN.
    Br J Ophthalmol; 2010 Jul; 94(7):836-42. PubMed ID: 19948560
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  • 10. [A research on TGFBI gene mutations in Chinese families with corneal dystrophies].
    Qi YH, He HD, Li Y, Lin H, Gu JZ, Su H, Huang SZ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):310-2. PubMed ID: 16767671
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  • 11. TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.
    Takács L, Losonczy G, Matesz K, Balogh I, Sohajda Z, Tóth K, Fazakas F, Vereb G, Berta A.
    Mol Vis; 2007 Oct 18; 13():1976-83. PubMed ID: 17982422
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  • 14. TGFBI gene mutations in Brazilian patients with corneal dystrophy.
    Solari HP, Ventura MP, Perez AB, Sallum JM, Burnier MN, Belfort R.
    Eye (Lond); 2007 May 18; 21(5):587-90. PubMed ID: 16440005
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  • 15. Corneal dystrophies in Japan.
    Fujiki K, Nakayasu K, Kanai A.
    J Hum Genet; 2001 May 18; 46(8):431-5. PubMed ID: 11501939
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  • 16. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
    Aldave AJ, Gutmark JG, Yellore VS, Affeldt JA, Meallet MA, Udar N, Rao NA, Small KW, Klintworth GK.
    Am J Ophthalmol; 2004 Nov 18; 138(5):772-81. PubMed ID: 15531312
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  • 17. Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene.
    Eifrig DE, Afshari NA, Buchanan HW, Bowling BL, Klintworth GK.
    Ophthalmology; 2004 Jun 18; 111(6):1108-14. PubMed ID: 15177960
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  • 18. BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.
    Schmitt-Bernard CF, Guittard C, Arnaud B, Demaille J, Argiles A, Claustres M, Tuffery-Giraud S.
    Invest Ophthalmol Vis Sci; 2000 May 18; 41(6):1302-8. PubMed ID: 10798644
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  • 19. Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.
    Zenteno JC, Ramirez-Miranda A, Santacruz-Valdes C, Suarez-Sanchez R.
    Mol Vis; 2006 Apr 10; 12():331-5. PubMed ID: 16636649
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  • 20. A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene.
    Tian X, Fujiki K, Zhang Y, Murakami A, Li Q, Kanai A, Wang W, Hao Y, Ma Z.
    Am J Ophthalmol; 2007 Sep 10; 144(3):473-5. PubMed ID: 17765440
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