Black GC - Search Results

1

A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.

Irvine AD, Coleman CM, Moore JE, Swensson O, Morgan SJ, McCarthy JH, Smith FJ, Black GC, McLean WH. Irvine AD, et al. Among authors: black gc. Br J Ophthalmol. 2002 Jul;86(7):729-32. doi: 10.1136/bjo.86.7.729. Br J Ophthalmol. 2002. PMID: 12084738 Free PMC article.

2

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. Stewart H, et al. Among authors: black gc. Ophthalmology. 1999 May;106(5):964-70. doi: 10.1016/S0161-6420(99)00539-4. Ophthalmology. 1999. PMID: 10328397

3

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.

Stewart HS, Parveen R, Ridgway AE, Bonshek R, Black GC. Stewart HS, et al. Among authors: black gc. Br J Ophthalmol. 2000 Apr;84(4):390-4. doi: 10.1136/bjo.84.4.390. Br J Ophthalmol. 2000. PMID: 10729296 Free PMC article.

4

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. Boutboul S, et al. Among authors: black gc. Hum Mutat. 2006 Jun;27(6):553-7. doi: 10.1002/humu.20331. Hum Mutat. 2006. PMID: 16652336

5

Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.

Courtney DG, Atkinson SD, Moore JE, Maurizi E, Serafini C, Pellegrini G, Black GC, Manson FD, Yam GH, Macewen CJ, Allen EH, McLean WH, Moore CB. Courtney DG, et al. Among authors: black gc. Invest Ophthalmol Vis Sci. 2014 Feb 18;55(2):977-85. doi: 10.1167/iovs.13-13279. Invest Ophthalmol Vis Sci. 2014. PMID: 24425855

6

Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation.

Black GC, Morten K, Laborde A, Poulton J. Black GC, et al. Br J Ophthalmol. 1996 Oct;80(10):915-7. doi: 10.1136/bjo.80.10.915. Br J Ophthalmol. 1996. PMID: 8976705 Free PMC article.

7

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. Ridgway AE, et al. Among authors: black gc. Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3286-92. Invest Ophthalmol Vis Sci. 2000. PMID: 11006215

8

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. Munier FL, et al. Among authors: black gc. Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54. Invest Ophthalmol Vis Sci. 2002. PMID: 11923233

9

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC. Biswas S, et al. Among authors: black gc. Hum Mol Genet. 2001 Oct 1;10(21):2415-23. doi: 10.1093/hmg/10.21.2415. Hum Mol Genet. 2001. PMID: 11689488

10

VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype.

Burkitt Wright EM, Perveen R, Bowers N, Ramsden S, McCann E, O'Driscoll M, Lloyd IC, Clayton-Smith J, Black GC. Burkitt Wright EM, et al. Among authors: black gc. Br J Ophthalmol. 2010 Mar;94(3):386-8. doi: 10.1136/bjo.2009.159996. Br J Ophthalmol. 2010. PMID: 20215382 No abstract available.

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