Hunt DM - Search Results

1

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

Downes SM, Payne AM, Kelsell RE, Fitzke FW, Holder GE, Hunt DM, Moore AT, Bird AC. Downes SM, et al. Among authors: hunt dm. Arch Ophthalmol. 2001 Nov;119(11):1667-73. doi: 10.1001/archopht.119.11.1667. Arch Ophthalmol. 2001. PMID: 11709018

2

Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.

Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. Michaelides M, et al. Among authors: hunt dm. Ophthalmology. 2005 Aug;112(8):1442-7. doi: 10.1016/j.ophtha.2005.02.024. Ophthalmology. 2005. PMID: 15953638

3

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

4

Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q.

Godley BF, Tiffin PA, Evans K, Kelsell RE, Hunt DM, Bird AC. Godley BF, et al. Among authors: hunt dm. Ophthalmology. 1996 Jun;103(6):893-8. doi: 10.1016/s0161-6420(96)30590-3. Ophthalmology. 1996. PMID: 8643244

5

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

6

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

Kelsell RE, Gregory-Evans K, Payne AM, Perrault I, Kaplan J, Yang RB, Garbers DL, Bird AC, Moore AT, Hunt DM. Kelsell RE, et al. Among authors: hunt dm. Hum Mol Genet. 1998 Jul;7(7):1179-84. doi: 10.1093/hmg/7.7.1179. Hum Mol Genet. 1998. PMID: 9618177

7

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.

Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT. Gregory-Evans K, et al. Among authors: hunt dm. Ophthalmology. 2000 Jan;107(1):55-61. doi: 10.1016/s0161-6420(99)00038-x. Ophthalmology. 2000. PMID: 10647719

8

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.

Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT. Michaelides M, et al. Among authors: hunt dm. Br J Ophthalmol. 2005 Feb;89(2):198-206. doi: 10.1136/bjo.2004.050773. Br J Ophthalmol. 2005. PMID: 15665353 Free PMC article.

9

A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".

Michaelides M, Holder GE, Webster AR, Hunt DM, Bird AC, Fitzke FW, Mollon JD, Moore AT. Michaelides M, et al. Among authors: hunt dm. Br J Ophthalmol. 2005 Mar;89(3):332-9. doi: 10.1136/bjo.2004.050567. Br J Ophthalmol. 2005. PMID: 15722315 Free PMC article.

10

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

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