Hunt DM - Search Results

1

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

2

Guanylate cyclase activating proteins, guanylate cyclase and disease.

Newbold RJ, Deery EC, Payne AM, Wilkie SE, Hunt DM, Warren MJ. Newbold RJ, et al. Among authors: hunt dm. Adv Exp Med Biol. 2002;514:411-38. doi: 10.1007/978-1-4615-0121-3_25. Adv Exp Med Biol. 2002. PMID: 12596936 Review.

3

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

4

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

5

Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1.

Hunt DM, Wilkie SE, Newbold R, Deery E, Warren MJ, Bhattacharya SS, Zhang K. Hunt DM, et al. Novartis Found Symp. 2004;255:37-49; discussion 49-50, 177-8. doi: 10.1002/0470092645.ch4. Novartis Found Symp. 2004. PMID: 14750595

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

X-linked cone dysfunction syndrome with myopia and protanopia.

Michaelides M, Johnson S, Bradshaw K, Holder GE, Simunovic MP, Mollon JD, Moore AT, Hunt DM. Michaelides M, et al. Among authors: hunt dm. Ophthalmology. 2005 Aug;112(8):1448-54. doi: 10.1016/j.ophtha.2005.02.021. Ophthalmology. 2005. PMID: 15953640

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

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

Michaelides M, Hardcastle AJ, Hunt DM, Moore AT. Michaelides M, et al. Among authors: hunt dm. Surv Ophthalmol. 2006 May-Jun;51(3):232-58. doi: 10.1016/j.survophthal.2006.02.007. Surv Ophthalmol. 2006. PMID: 16644365 Review.

10

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.

Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. Wu H, et al. Among authors: hunt dm. Am J Hum Genet. 2006 Sep;79(3):574-9. doi: 10.1086/507568. Epub 2006 Jul 24. Am J Hum Genet. 2006. PMID: 16909397 Free PMC article.

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