391 related articles for article (PubMed ID: 14767905)
1. [Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies].
Jin T; Zou LH; Yang L; Dong WL; Yu J; Lu L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):32-4. PubMed ID: 14767905
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. 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]
4. [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]
5. 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]
6. [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]
7. Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.
Afshari NA; Mullally JE; Afshari MA; Steinert RF; Adamis AP; Azar DT; Talamo JH; Dohlman CH; Dryja TP
Arch Ophthalmol; 2001 Jan; 119(1):16-22. PubMed ID: 11146721
[TBL] [Abstract][Full Text] [Related]
8. Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy.
Cung le X; Ha NT; Chau HM; Thanh TK; Fujiki K; Murakami A; Hiratsuka Y; Kanai A
Jpn J Ophthalmol; 2004; 48(1):12-6. PubMed ID: 14767644
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. BIGH3 mutation spectrum in corneal dystrophies.
Munier FL; Frueh BE; Othenin-Girard P; Uffer S; Cousin P; Wang MX; Héon E; Black GC; Blasi MA; Balestrazzi E; Lorenz B; Escoto R; Barraquer R; Hoeltzenbein M; Gloor B; Fossarello M; Singh AD; Arsenijevic Y; Zografos L; Schorderet DF
Invest Ophthalmol Vis Sci; 2002 Apr; 43(4):949-54. PubMed ID: 11923233
[TBL] [Abstract][Full Text] [Related]
11. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.
Okada M; Yamamoto S; Inoue Y; Watanabe H; Maeda N; Shimomura Y; Ishii Y; Tano Y
Invest Ophthalmol Vis Sci; 1998 Sep; 39(10):1947-53. PubMed ID: 9727418
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Corneal dystrophies in Japan.
Fujiki K; Nakayasu K; Kanai A
J Hum Genet; 2001; 46(8):431-5. PubMed ID: 11501939
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients.
Konishi M; Mashima Y; Yamada M; Kudoh J; Shimizu N
Am J Ophthalmol; 1998 Sep; 126(3):450-2. PubMed ID: 9744382
[TBL] [Abstract][Full Text] [Related]
18. Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation.
Diaper CJ; Schorderet DF; Chaubert P; Munier FL
Eye (Lond); 2005 Jan; 19(1):92-6. PubMed ID: 15094731
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
