592 related articles for article (PubMed ID: 17980739)
1. 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]
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; 114(1):69-75. PubMed ID: 17198850
[TBL] [Abstract][Full Text] [Related]
3. 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; 14():1503-12. PubMed ID: 18728790
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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; 116(1):46-51. PubMed ID: 19019446
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [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; 23(3):310-2. PubMed ID: 16767671
[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]
9. TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.
Gruenauer-Kloevekorn C; Clausen I; Weidle E; Wolter-Roessler M; Tost F; Völcker HE; Schulze DP; Heinritz W; Reinhard T; Froster U; Duncker G; Schorderet D; Auw-Haedrich C
Br J Ophthalmol; 2009 Jul; 93(7):932-7. PubMed ID: 19001012
[TBL] [Abstract][Full Text] [Related]
10. Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?
Ridgway AE; Akhtar S; Munier FL; Schorderet DF; Stewart H; Perveen R; Bonshek RE; Odenthal MT; Dixon M; Barraquer R; Escoto R; Black GC
Invest Ophthalmol Vis Sci; 2000 Oct; 41(11):3286-92. PubMed ID: 11006215
[TBL] [Abstract][Full Text] [Related]
11. 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; 111(6):1108-14. PubMed ID: 15177960
[TBL] [Abstract][Full Text] [Related]
12. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.
Boutboul S; Black GC; Moore JE; Sinton J; Menasche M; Munier FL; Laroche L; Abitbol M; Schorderet DF
Hum Mutat; 2006 Jun; 27(6):553-7. PubMed ID: 16652336
[TBL] [Abstract][Full Text] [Related]
13. 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; 21(5):587-90. PubMed ID: 16440005
[TBL] [Abstract][Full Text] [Related]
14. 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; 40(2):105-8. PubMed ID: 18259096
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?].
Grünauer-Kloevekorn C; Bräutigam S; Wolter-Roessler M; Tost F; Weidle E; Froster U; Duncker GI
Klin Monbl Augenheilkd; 2005 Dec; 222(12):1017-23. PubMed ID: 16380889
[TBL] [Abstract][Full Text] [Related]
17. The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.
Correa-Gomez V; Villalvazo-Cordero L; Zenteno JC
Mol Vis; 2007 Sep; 13():1695-700. PubMed ID: 17893671
[TBL] [Abstract][Full Text] [Related]
18. Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy.
Li Y; Sun XG; Ren HY; Dong B; Wang ZQ; Sun XY
Chin Med J (Engl); 2004 Sep; 117(9):1418-21. PubMed ID: 15377440
[TBL] [Abstract][Full Text] [Related]
19. BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies.
Schmitt-Bernard CF; Guittard C; Arnaud B; Demaille J; Argiles A; Claustres M; Tuffery-Giraud S
Invest Ophthalmol Vis Sci; 2000 May; 41(6):1302-8. PubMed ID: 10798644
[TBL] [Abstract][Full Text] [Related]
20. TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine.
Pampukha VM; Drozhyna GI; Livshits LA
Ophthalmologica; 2004; 218(6):411-4. PubMed ID: 15564760
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]