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7. [Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]. Grünauer-Kloevekorn C; Braeutigam S; Weidle E; Wolter-Roessler M; Tost F; Auw-Haedrich C; Völcker HE; Heinritz W; Froster U; Duncker G Klin Monbl Augenheilkd; 2006 Oct; 223(10):829-36. PubMed ID: 17063427 [TBL] [Abstract][Full Text] [Related]
8. 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; 13():1976-83. PubMed ID: 17982422 [TBL] [Abstract][Full Text] [Related]
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10. [Autosomal dominant inherited corneal dystrophies associated with TGFBI mutation]. Mashima Y; Yamada M; Oguchi Y Nippon Ganka Gakkai Zasshi; 2001 Oct; 105(10):659-72. PubMed ID: 11692612 [TBL] [Abstract][Full Text] [Related]
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; 39(10):582-6. PubMed ID: 14766070 [TBL] [Abstract][Full Text] [Related]
12. 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; 16(1):158. PubMed ID: 27590038 [TBL] [Abstract][Full Text] [Related]
13. 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; 114(11):e39-46. PubMed ID: 17980739 [TBL] [Abstract][Full Text] [Related]
14. [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; 41(3):239-42. PubMed ID: 15840366 [TBL] [Abstract][Full Text] [Related]
15. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Stewart H; Black GC; Donnai D; Bonshek RE; McCarthy J; Morgan S; Dixon MJ; Ridgway AA Ophthalmology; 1999 May; 106(5):964-70. PubMed ID: 10328397 [TBL] [Abstract][Full Text] [Related]
16. 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; 12():331-5. PubMed ID: 16636649 [TBL] [Abstract][Full Text] [Related]
17. 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 [TBL] [Abstract][Full Text] [Related]
18. 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 [TBL] [Abstract][Full Text] [Related]
19. 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; 16():556-61. PubMed ID: 20360992 [TBL] [Abstract][Full Text] [Related]
20. Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. Stewart HS; Ridgway AE; Dixon MJ; Bonshek R; Parveen R; Black G Hum Mutat; 1999; 14(2):126-32. PubMed ID: 10425035 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]