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Journal Abstract Search

839 related items for PubMed ID: 17982422

  • 1. 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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  • 2. In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies).
    Kobayashi A, Sugiyama K.
    Ophthalmology; 2007 Jan 18; 114(1):69-75. PubMed ID: 17198850
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  • 3. 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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  • 4. [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 18; 23(3):310-2. PubMed ID: 16767671
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  • 5. 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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  • 7. Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.
    Liskova P, Klintworth GK, Bowling BL, Filipec M, Jirsova K, Tuft SJ, Bhattacharya SS, Hardcastle AJ, Ebenezer ND.
    Ophthalmic Res; 2008 May 18; 40(2):105-8. PubMed ID: 18259096
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  • 8. The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.
    Correa-Gomez V, Villalvazo-Cordero L, Zenteno JC.
    Mol Vis; 2007 Sep 17; 13():1695-700. PubMed ID: 17893671
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  • 11. [Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies].
    Yu J, Zou LH, He JC, Liu NP, Zhang W, Lu L, Sun XG, Dong DS, Wu YY, Yin XT.
    Zhonghua Yan Ke Za Zhi; 2003 Oct 17; 39(10):582-6. PubMed ID: 14766070
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  • 13. 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 17; 138(5):772-81. PubMed ID: 15531312
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  • 17. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.
    Chakravarthi SV, Kannabiran C, Sridhar MS, Vemuganti GK.
    Invest Ophthalmol Vis Sci; 2005 Jan 17; 46(1):121-5. PubMed ID: 15623763
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  • 20. 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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