Black GC - Search Results

1

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

Perveen R, Lloyd IC, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr B, Winter R, Black GC. Perveen R, et al. Among authors: black gc. Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2456-60. Invest Ophthalmol Vis Sci. 2000. PMID: 10937553

2

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

Black GC, Perveen R, Hatchwell E, Reck A, Clayton-Smith J. Black GC, et al. J Med Genet. 1998 Dec;35(12):985-8. doi: 10.1136/jmg.35.12.985. J Med Genet. 1998. PMID: 9863593 Free PMC article.

3

A mutation in the RIEG1 gene associated with Peters' anomaly.

Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC. Doward W, et al. Among authors: black gc. J Med Genet. 1999 Feb;36(2):152-5. J Med Genet. 1999. PMID: 10051017 Free PMC article.

4

Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3.

Perveen R, Hart-Holden N, Dixon MJ, Wiszniewski W, Fryer AE, Brunner HG, Pinkners AJ, van Beersum SE, Black GC. Perveen R, et al. Among authors: black gc. Genomics. 1999 Apr 15;57(2):219-26. doi: 10.1006/geno.1999.5766. Genomics. 1999. PMID: 10198161

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. 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

6

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. Stewart HS, et al. Hum Mutat. 1999;14(2):126-32. doi: 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W. Hum Mutat. 1999. PMID: 10425035

7

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.

Black GC, Perveen R, Bonshek R, Cahill M, Clayton-Smith J, Lloyd IC, McLeod D. Black GC, et al. Hum Mol Genet. 1999 Oct;8(11):2031-5. doi: 10.1093/hmg/8.11.2031. Hum Mol Genet. 1999. PMID: 10484772

8

A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.

Black GC, Perveen R, Wiszniewski W, Dodd CL, Donnai D, McLeod D. Black GC, et al. Ophthalmology. 1999 Nov;106(11):2074-81. doi: 10.1016/S0161-6420(99)90486-4. Ophthalmology. 1999. PMID: 10571340

9

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.

10

A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia.

Murton NJ, Rehman I, Black GC, Inglehearn CF, Churchill AJ. Murton NJ, et al. Among authors: black gc. Hum Mutat. 2000 Jun;15(6):582. doi: 10.1002/1098-1004(200006)15:6<582::AID-HUMU19>3.0.CO;2-M. Hum Mutat. 2000. PMID: 10862096 No abstract available.

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