Hunt DM - Search Results

1

Clinical characterization and genetic mapping of North Carolina macular dystrophy.

Yang Z, Tong Z, Chorich LJ, Pearson E, Yang X, Moore A, Hunt DM, Zhang K. Yang Z, et al. Among authors: hunt dm. Vision Res. 2008 Feb;48(3):470-7. doi: 10.1016/j.visres.2007.09.015. Epub 2007 Oct 31. Vision Res. 2008. PMID: 17976682 Free PMC article.

2

An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.

Michaelides M, Johnson S, Tekriwal AK, Holder GE, Bellmann C, Kinning E, Woodruff G, Trembath RC, Hunt DM, Moore AT. Michaelides M, et al. Among authors: hunt dm. Invest Ophthalmol Vis Sci. 2003 May;44(5):2178-83. doi: 10.1167/iovs.02-1094. Invest Ophthalmol Vis Sci. 2003. PMID: 12714659

3

An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4.

Michaelides M, Johnson S, Poulson A, Bradshaw K, Bellmann C, Hunt DM, Moore AT. Michaelides M, et al. Among authors: hunt dm. Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1657-62. doi: 10.1167/iovs.02-0941. Invest Ophthalmol Vis Sci. 2003. PMID: 12657606

4

Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q.

Reichel MB, Kelsell RE, Fan J, Gregory CY, Evans K, Moore AT, Hunt DM, Fitzke FW, Bird AC. Reichel MB, et al. Among authors: hunt dm. Br J Ophthalmol. 1998 Oct;82(10):1162-8. doi: 10.1136/bjo.82.10.1162. Br J Ophthalmol. 1998. PMID: 9924305 Free PMC article.

5

Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss.

Francis PJ, Johnson S, Edmunds B, Kelsell RE, Sheridan E, Garrett C, Holder GE, Hunt DM, Moore AT. Francis PJ, et al. Among authors: hunt dm. Br J Ophthalmol. 2003 Jul;87(7):893-8. doi: 10.1136/bjo.87.7.893. Br J Ophthalmol. 2003. PMID: 12812894 Free PMC article.

6

The genetics of inherited macular dystrophies.

Michaelides M, Hunt DM, Moore AT. Michaelides M, et al. Among authors: hunt dm. J Med Genet. 2003 Sep;40(9):641-50. doi: 10.1136/jmg.40.9.641. J Med Genet. 2003. PMID: 12960208 Free PMC article. Review.

7

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K. Yang Z, et al. Among authors: hunt dm. J Clin Invest. 2008 Aug;118(8):2908-16. doi: 10.1172/JCI35891. J Clin Invest. 2008. PMID: 18654668 Free PMC article.

8

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.

Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. Michaelides M, et al. Among authors: hunt dm. Ophthalmology. 2005 Sep;112(9):1592-8. doi: 10.1016/j.ophtha.2005.04.004. Ophthalmology. 2005. PMID: 16019073

9

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).

Johnson S, Halford S, Morris AG, Patel RJ, Wilkie SE, Hardcastle AJ, Moore AT, Zhang K, Hunt DM. Johnson S, et al. Among authors: hunt dm. Genomics. 2003 Mar;81(3):304-14. doi: 10.1016/s0888-7543(03)00010-7. Genomics. 2003. PMID: 12659814

10

Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.

Kelsell RE, Evans K, Gregory CY, Moore AT, Bird AC, Hunt DM. Kelsell RE, et al. Among authors: hunt dm. Hum Mol Genet. 1997 Apr;6(4):597-600. doi: 10.1093/hmg/6.4.597. Hum Mol Genet. 1997. PMID: 9097965

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