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223 related items for PubMed ID: 27590038

  • 1. New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene.
    Qiu WY, Zheng LB, Pan F, Wang BB, Yao YF.
    BMC Ophthalmol; 2016 Sep 02; 16(1):158. PubMed ID: 27590038
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  • 4. A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.
    Wheeldon CE, de Karolyi BH, Patel DV, Sherwin T, McGhee CN, Vincent AL.
    Mol Vis; 2008 Aug 18; 14():1503-12. PubMed ID: 18728790
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  • 6. In vivo Imaging of Reis-Bücklers and Thiel-Behnke Corneal Dystrophies Using Anterior Segment Optical Coherence Tomography.
    Nishino T, Kobayashi A, Mori N, Yokogawa H, Sugiyama K.
    Clin Ophthalmol; 2020 Aug 18; 14():2601-2607. PubMed ID: 32982153
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  • 7. Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.
    Zhao XC, Nakamura H, Subramanyam S, Stock LE, Gillette TE, Yoshikawa S, Ma X, Yee RW.
    Ophthalmology; 2007 Nov 18; 114(11):e39-46. PubMed ID: 17980739
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  • 8. A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.
    Auw-Haedrich C, Agostini H, Clausen I, Reinhard T, Eberwein P, Schorderet DF, Gruenauer-Kloevekorn C.
    Ophthalmology; 2009 Jan 18; 116(1):46-51. PubMed ID: 19019446
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  • 9. Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bücklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature.
    Küchle M, Green WR, Völcker HE, Barraquer J.
    Cornea; 1995 Jul 18; 14(4):333-54. PubMed ID: 7671605
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  • 10. Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dystrophy in a Chinese family.
    Piao MZ, Zhou XT, Wu LC, Chu RY.
    J Int Med Res; 2012 Jul 18; 40(3):1149-55. PubMed ID: 22906289
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  • 11. 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 18; 112(6):1017-22. PubMed ID: 15885785
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  • 12. TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.
    Ma K, Liu G, Yang Y, Yu M, Sui R, Yu W, Chen X, Deng Y, Yan N, Cao G, Liu X.
    Mol Vis; 2010 Mar 31; 16():556-61. PubMed ID: 20360992
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  • 13. Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family.
    Klintworth GK, Bao W, Afshari NA.
    Invest Ophthalmol Vis Sci; 2004 May 31; 45(5):1382-8. PubMed ID: 15111592
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  • 14. Genes in dizygote twins with Bowman layer corneal dystrophy.
    Hou YC, Hu FR, Wang IJ.
    Optom Vis Sci; 2015 Apr 31; 92(4 Suppl 1):S20-4. PubMed ID: 25785536
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  • 15. Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients.
    Nowińska AK, Wylegala E, Janiszewska DA, Dobrowolski D, Aragona P, Roszkowska AM, Puzzolo D.
    Mol Vis; 2011 Apr 31; 17():2333-42. PubMed ID: 21921985
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  • 16. Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and Bowman Layer Opacities.
    Chen AC, Niruthisard D, Chung DD, Chuephanich P, Aldave AJ.
    Ophthalmic Genet; 2020 Dec 31; 41(6):639-644. PubMed ID: 32880217
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  • 17. Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy.
    Okada M, Yamamoto S, Tsujikawa M, Watanabe H, Inoue Y, Maeda N, Shimomura Y, Nishida K, Quantock AJ, Kinoshita S, Tano Y.
    Am J Ophthalmol; 1998 Oct 31; 126(4):535-42. PubMed ID: 9780098
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  • 18. [Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].
    Tian X, Liu ZG, Li Q, Li B, Wang W, Xie PY, Fujiki K, Murakami A, Kanai A.
    Zhonghua Yan Ke Za Zhi; 2005 Mar 31; 41(3):239-42. PubMed ID: 15840366
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  • 19. Spheroidal degeneration in H626R TGFBI variant lattice dystrophy: a multimodality analysis.
    Lai K, Reidy J, Bert B, Milman T.
    Cornea; 2014 Jul 31; 33(7):726-32. PubMed ID: 24831201
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  • 20. A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy.
    Mashima Y, Nakamura Y, Noda K, Konishi M, Yamada M, Kudoh J, Shimizu N.
    Arch Ophthalmol; 1999 Jan 31; 117(1):90-3. PubMed ID: 9930165
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