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23. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Sultana A; Garg P; Ramamurthy B; Vemuganti GK; Kannabiran C Mol Vis; 2007 Jul; 13():1327-32. PubMed ID: 17679935 [TBL] [Abstract][Full Text] [Related]
24. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. Bisceglia L; Ciaschetti M; De Bonis P; Campo PA; Pizzicoli C; Scala C; Grifa M; Ciavarella P; Delle Noci N; Vaira F; Macaluso C; Zelante L Invest Ophthalmol Vis Sci; 2005 Jan; 46(1):39-45. PubMed ID: 15623752 [TBL] [Abstract][Full Text] [Related]
25. [Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy]. Clausen I; Weidle E; Duncker G; Grünauer-Kloevekorn C Klin Monbl Augenheilkd; 2009 Jun; 226(6):466-9. PubMed ID: 19507099 [TBL] [Abstract][Full Text] [Related]
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27. [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]
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29. Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene. Gottsch JD; Zhang C; Sundin OH; Bell WR; Stark WJ; Green WR Invest Ophthalmol Vis Sci; 2005 Dec; 46(12):4504-11. PubMed ID: 16303941 [TBL] [Abstract][Full Text] [Related]
30. Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study. Jin ZB; Mandai M; Yokota T; Higuchi K; Ohmori K; Ohtsuki F; Takakura S; Itabashi T; Wada Y; Akimoto M; Ooto S; Suzuki T; Hirami Y; Ikeda H; Kawagoe N; Oishi A; Ichiyama S; Takahashi M; Yoshimura N; Kosugi S J Med Genet; 2008 Jul; 45(7):465-72. PubMed ID: 18310263 [TBL] [Abstract][Full Text] [Related]
31. Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. Liskova P; Veraitch B; Jirsova K; Filipec M; Neuwirth A; Ebenezer ND; Hysi PG; Hardcastle AJ; Tuft SJ; Bhattacharya SS Br J Ophthalmol; 2008 Feb; 92(2):265-7. PubMed ID: 17962390 [TBL] [Abstract][Full Text] [Related]
32. [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]
33. 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]
34. Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy. Zenteno JC; Ramirez-Miranda A; Santacruz-Valdes C; Suarez-Sanchez R Mol Vis; 2006 Apr; 12():331-5. PubMed ID: 16636649 [TBL] [Abstract][Full Text] [Related]
35. Changes in the localization of collagens IV and VIII in corneas obtained from patients with posterior polymorphous corneal dystrophy. Merjava S; Liskova P; Sado Y; Davis PF; Greenhill NS; Jirsova K Exp Eye Res; 2009 May; 88(5):945-52. PubMed ID: 19162009 [TBL] [Abstract][Full Text] [Related]
36. A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. Ma X; Li FF; Wang SZ; Gao C; Zhang M; Zhu SQ Mol Vis; 2008; 14():1906-11. PubMed ID: 18958306 [TBL] [Abstract][Full Text] [Related]
37. 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]
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40. 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] [Previous] [Next] [New Search]