132 related articles for article (PubMed ID: 15017378)
1. BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.
El-Ashry MF; Abd El-Aziz MM; Ficker LA; Hardcastle AJ; Bhattacharya SS; Ebenezer ND
Eye (Lond); 2004 Jul; 18(7):723-8. PubMed ID: 15017378
[TBL] [Abstract][Full Text] [Related]
2. [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]
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. Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.
Stix B; Leber M; Bingemer P; Gross C; Rüschoff J; Fändrich M; Schorderet DF; Vorwerk CK; Zacharias M; Roessner A; Röcken C
Invest Ophthalmol Vis Sci; 2005 Apr; 46(4):1133-9. PubMed ID: 15790870
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene.
Tian X; Fujiki K; Zhang Y; Murakami A; Li Q; Kanai A; Wang W; Hao Y; Ma Z
Am J Ophthalmol; 2007 Sep; 144(3):473-5. PubMed ID: 17765440
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. [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]
12. [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]
13. 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]
14. 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]
15. 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]
16. [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]
17. 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]
18. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.
Chakravarthi SV; Kannabiran C; Sridhar MS; Vemuganti GK
Invest Ophthalmol Vis Sci; 2005 Jan; 46(1):121-5. PubMed ID: 15623763
[TBL] [Abstract][Full Text] [Related]
19. Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy.
El Kochairi I; Letovanec I; Uffer S; Munier FL; Chaubert P; Schorderet DF
Mol Vis; 2006 May; 12():461-6. PubMed ID: 16710170
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
