Literature DB >> 16606891

Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene.

Tasha Y Tanhehco, David E Eifrig, Ivan R Schwab, Christopher J Rapuano, Gordon K Klintworth.   

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Year:  2006        PMID： 16606891     DOI： 10.1001/archopht.124.4.589

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  13 in total

1.  De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

Authors:  E N Hilton; G C M Black; F D C Manson; D F Schorderet; F L Munier
Journal:  Br J Ophthalmol       Date:  2007-08       Impact factor: 4.638

2.  Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree.

Authors:  Meng-Jun Fu; Jing Zhao; Shan Duan; Hao-Run Zhang; Jing-Jing Zhao; Li Zeng; Rui Wang; Xing-Tao Zhou
Journal:  Int J Ophthalmol       Date:  2022-09-18       Impact factor: 1.645

Review 3.  Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.

Authors:  Juhua Yang; Xiaoli Han; Dinggou Huang; Lin Yu; Yihua Zhu; Yi Tong; Binliang Zhu; Chuanbao Li; Mingshe Weng; Xu Ma
Journal:  Mol Vis       Date:  2010-06-30       Impact factor: 2.367

4.  Regenerative potential of the zebrafish corneal endothelium.

Authors:  Martin Heur; Shuliang Jiao; Simone Schindler; J Gage Crump
Journal:  Exp Eye Res       Date:  2012-10-26       Impact factor: 3.467

5.  TGFBI gene mutations in a Korean population with corneal dystrophy.

Authors:  Kyong Jin Cho; Jee Won Mok; Kyung Sun Na; Chang Rae Rho; Yong Soo Byun; Ho Sik Hwang; Kyu Yeon Hwang; Choun-Ki Joo
Journal:  Mol Vis       Date:  2012-07-20       Impact factor: 2.367

6.  Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan.

Authors:  Yu-Chih Hou; I-Jong Wang; Cheng-Hsiang Hsiao; Wei-Li Chen; Fung-Rong Hu
Journal:  Mol Vis       Date:  2012-02-07       Impact factor: 2.367

7.  Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

Authors:  Judy L Chen; Benjamin R Lin; Katherine M Gee; Jessica A Gee; Duk-Won D Chung; Ricardo F Frausto; Sophie X Deng; Anthony J Aldave
Journal:  Mol Vis       Date:  2015-12-31       Impact factor: 2.367

8.  Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy.

Authors:  Pejman Bakhtiari; Ricardo F Frausto; Ashley N Roldan; Cynthia Wang; Fei Yu; Anthony J Aldave
Journal:  Mol Vis       Date:  2013-03-15       Impact factor: 2.367

9.  A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.

Authors:  Catherine E Wheeldon; Betina H de Karolyi; Dipika V Patel; Trevor Sherwin; Charles N J McGhee; Andrea L Vincent
Journal:  Mol Vis       Date:  2008-08-18       Impact factor: 2.367

10.  Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.

Authors:  Benjamin R Lin; Ricardo F Frausto; Rosalind C Vo; Stephan Y Chiu; Judy L Chen; Anthony J Aldave
Journal:  J Ophthalmol       Date:  2016-06-12       Impact factor: 1.909
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