Hunt DM - Search Results

1

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).

Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER. Aligianis IA, et al. Among authors: hunt dm. J Med Genet. 2002 Sep;39(9):656-60. doi: 10.1136/jmg.39.9.656. J Med Genet. 2002. PMID: 12205108 Free PMC article.

2

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

3

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.

4

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

Michaelides M, Aligianis IA, Holder GE, Simunovic M, Mollon JD, Maher ER, Hunt DM, Moore AT. Michaelides M, et al. Among authors: hunt dm. Br J Ophthalmol. 2003 Nov;87(11):1317-20. doi: 10.1136/bjo.87.11.1317. Br J Ophthalmol. 2003. PMID: 14609822 Free PMC article.

5

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. Johnson S, et al. Among authors: hunt dm. J Med Genet. 2004 Feb;41(2):e20. doi: 10.1136/jmg.2003.011437. J Med Genet. 2004. PMID: 14757870 Free PMC article. No abstract available.

6

Progressive cone dystrophy associated with mutation in CNGB3.

Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM. Michaelides M, et al. Among authors: hunt dm. Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82. doi: 10.1167/iovs.03-0898. Invest Ophthalmol Vis Sci. 2004. PMID: 15161866

7

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.

Kelsell RE, Godley BF, Evans K, Tiffin PA, Gregory CY, Plant C, Moore AT, Bird AC, Hunt DM. Kelsell RE, et al. Among authors: hunt dm. Hum Mol Genet. 1995 Sep;4(9):1653-6. doi: 10.1093/hmg/4.9.1653. Hum Mol Genet. 1995. PMID: 8541856

8

Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.

Payne AM, Morris AG, Downes SM, Johnson S, Bird AC, Moore AT, Bhattacharya SS, Hunt DM. Payne AM, et al. Among authors: hunt dm. J Med Genet. 2001 Sep;38(9):611-4. doi: 10.1136/jmg.38.9.611. J Med Genet. 2001. PMID: 11565546 Free PMC article. No abstract available.

9

The cone dysfunction syndromes.

Michaelides M, Hunt DM, Moore AT. Michaelides M, et al. Among authors: hunt dm. Br J Ophthalmol. 2004 Feb;88(2):291-7. doi: 10.1136/bjo.2003.027102. Br J Ophthalmol. 2004. PMID: 14736794 Free PMC article. Review.

10

Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.

Michaelides M, Johnson S, Simunovic MP, Bradshaw K, Holder G, Mollon JD, Moore AT, Hunt DM. Michaelides M, et al. Among authors: hunt dm. Eye (Lond). 2005 Jan;19(1):2-10. doi: 10.1038/sj.eye.6701391. Eye (Lond). 2005. PMID: 15094734

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