| 1 | Replication of the TCF4 intronic variant in late-onse t Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. (21245398) | Riazuddin S.A.... Gottsch J.D. | 2011 | TCF4 |
| 2 | Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. (20458218) | Edelstein S.L.... Waltman S.R. | 2010 | TGFBI |
| 3 | Tumor-associated calcium signal transducer 2 is requi red for the proper subcellular localization of claudin 1 and 7: implications in the pathogenesis of gelatinous drop-like corneal dystrophy. (20651236) | Nakatsukasa M.... Kinoshita S. | 2010 | TACSTD2 |
| 4 | Clinical findings and treatments of granular corneal dystrophy type 2 (avellino corneal dystrophy): a review of the literature. (20724852) | Han K.E.... Kim E.K. | 2010 | TGFBI |
| 5 | Newly reported p.Asp240Asn mutation in UBIAD1 suggest s central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. (20489584) | Weiss J.S.... Aldave A. | 2010 | UBIAD1 |
| 6 | Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. (21067486) | Liskova P.... Tuft S.J. | 2010 | ZEB1 |
| 7 | Lattice corneal dystrophy type IV (p.Leu527Arg) is ca used by a founder mutation of the TGFBI gene in a single Japanese ancestor. (20357204) | Fukuoka H.... Kinoshita S. | 2010 | TGFB1 |
| 8 | Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation. (19432861) | Nguyen D.Q.... Churchill A.J. | 2010 | ZEB1 |
| 9 | A novel UBIAD1 mutation identified in a Chinese famil y with Schnyder crystalline corneal dystrophy. (19649163) | Jing Y.... Wang L. | 2009 | UBIAD1 |
| 10 | Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. (19204788) | Sultana A.... Kannabiran C. | 2009 | CHST6 |
| 11 | Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. (19092416) | Kamal K.M.... Aldave A.J. | 2009 | TGIF1 |
| 12 | Exclusion of known corneal dystrophy genes in an auto somal dominant pedigree of a unique anterior membrane corneal dystrophy. (19710953) | Vincent A.L.... McGhee C.N. | 2009 | COL6A1, GSN, TGFBI |
| 13 | Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. (18172091) | Mehta J.S.... Aung T. | 2008 | ZEB1 |
| 14 | Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. (17962390) | Liskova P.... Bhattacharya S.S. | 2008 | CHST6 |
| 15 | An atypical phenotype of Reis-Bucklers corneal dystrophy caused by the G623D mutation in TGFBI. (18636123) | Li D.... Zhao L. | 2008 | TGFBI |
| 16 | Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. (18500531) | Gruenauer-Kloevekorn C.... Duncker G.I. | 2008 | CHST6 |
| 17 | Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees. (18290950) | Alavi A.... Rezaei-Kanavi M. | 2008 | TGFBI |
| 18 | Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. (18176953) | Weiss J.S.... Nickerson M.L. | 2008 | UBIAD1 |
| 19 | TGFBI gene mutation analysis in a Chinese family with Thiel-Behnke corneal dystrophy (18001570) | Qi Y.H.... Huang S.Z. | 2007 | TGFB1, TGFBI |
| 20 | Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. (17668063) | Orr A.... Samuels M. | 2007 | UBIAD1 |
| 21 | A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. (17653038) | Sullivan L.S.... Yee R.W. | 2007 | KRT12 |
| 22 | An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation. (17896316) | Yellore V.S.... Aldave A.J. | 2007 | CHST6 |
| 23 | Analysis of mutation in KRT12 gene in a Chinese family with Meesmann's corneal dystrophy (18201524) | Wang L.J.... Liu L. | 2007 | KRT3, KRT12 |
| 24 | Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation. (17471329) | Zhang C.... Gottsch J.D. | 2006 | COL8A1, COL8A2 |
| 25 | Two cases of Reis-BA1cklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene. (16606891) | Tanhehco T.Y.... Klintworth G.K. | 2006 | TGFBI |
| 26 | Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy. (16163269) | Aldave A.J.... Yellore V.S. | 2005 | PEX14, CLSTN1, LZIC |
| 27 | First genetic analysis of lattice corneal dystrophy t ype I in a family from Bulgaria. (16329070) | Capoluongo E.... Brancaccio A. | 2005 | TGFBI |
| 28 | A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. (15885785) | Aldave A.J.... Yellore V.S. | 2005 | TGFBI, TGIF1 |
| 29 | Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. (16252232) | Krafchak C.M.... Richards J.E. | 2005 | COL4A3, ZEB1, COL8A2 |
| 30 | Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy. (15923518) | Yamada N.... Seki K. | 2005 | TGFBI |
| 31 | Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. (15183802) | Aldave A.J.... Weissman B.A. | 2004 | TGFBI |
| 32 | Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene (15559315) | Nakagawa Asahina S.... Kanai A. | 2004 | TGFBI, TGIF1 |
| 33 | Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. (15111592) | Klintworth G.K.... Afshari N.A. | 2004 | TGFBI |
| 34 | Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy. (14767644) | Cung l.e. .X.... Kanai A. | 2004 | TGFB1, TGFBI |
| 35 | An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene. (12709742) | Hou Y.C.... Chen M.S. | 2003 | TGFBI |
| 36 | A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families. (12812879) | El-Ashry M.F.... Ebenezer N.D. | 2003 | TGFBI |
| 37 | Genetic linkage of Francois-Neetens fleck (mouchetee) corneal dystrophy to chromosome 2q35. (12607114) | Jiao X.... Hejtmancik J.F. | 2003 | PIKFYVE |
| 38 | Central discoid corneal dystrophy. (12410027) | Aldave A.J.... Eagle R.C. | 2002 | CHST6 |
| 39 | BIGH3 mutation spectrum in corneal dystrophies. (11923233) | Munier F.L.... Schorderet D.F. | 2002 | TGFBI |
| 40 | Corneal dystrophies in Japan. (11501939) | Fujiki K.... Kanai A. | 2001 | TGFBI, TACSTD2 |
| 41 | Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. (11024418) | Lisch W.... Grzeschik K. | 2000 | KRT12 |
| 42 | Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. (11004271) | Ha N.T.... Kanai A. | 2000 | TGFBI, TACSTD2 |
| 43 | Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. (11024425) | Mashima Y.... Kinoshita S. | 2000 | TGFBI |
| 44 | Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated w ith abnormal turnover of the protein. (10753964) | Korvatska E.... Schorderet D.F. | 2000 | TGFBI |
| 45 | A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. (10328397) | Stewart H.S.... Ridgway A.A. | 1999 | TGFBI, TGIF1 |
| 46 | A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. (9930165) | Mashima Y.... Shimizu N. | 1999 | TGFBI |
| 47 | Advances in the molecular genetics of corneal dystrophies. (10612512) | Klintworth G.K. | 1999 | GSN, TGFBI, KRT3 |
| 48 | Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. (9758629) | Tsujikawa M.... Tano Y. | 1998 | CLK2 |
| 49 | Mutation hot spots in 5q31-linked corneal dystrophies. (9463327) | Korvatska E.... Schorderet D.F. | 1998 | TGFBI |
| 50 | The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36. (8894705) | Shearman A.M.... Weiss J.S. | 1996 | UBIAD1 |
