Johnson S - 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: johnson s, johnson ca. 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

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. 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.

3

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: johnson s. 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.

4

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: johnson s. Eye (Lond). 2005 Jan;19(1):2-10. doi: 10.1038/sj.eye.6701391. Eye (Lond). 2005. PMID: 15094734

5

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. Genomics. 2003 Mar;81(3):304-14. doi: 10.1016/s0888-7543(03)00010-7. Genomics. 2003. PMID: 12659814

6

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: johnson s. Invest Ophthalmol Vis Sci. 2003 May;44(5):2178-83. doi: 10.1167/iovs.02-1094. Invest Ophthalmol Vis Sci. 2003. PMID: 12714659

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: johnson s. Ophthalmology. 2005 Aug;112(8):1448-54. doi: 10.1016/j.ophtha.2005.02.021. Ophthalmology. 2005. PMID: 15953640

8

Assignment of panopsin (OPN3) to human chromosome band 1q43 by in situ hybridization and somatic cell hybrids.

Halford S, Bellingham J, Ocaka L, Fox M, Johnson S, Foster RG, Hunt DM. Halford S, et al. Among authors: johnson s. Cytogenet Cell Genet. 2001;95(3-4):234-5. doi: 10.1159/000059351. Cytogenet Cell Genet. 2001. PMID: 12063405 No abstract available.

9

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: johnson s. 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.

10

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: johnson s. Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1657-62. doi: 10.1167/iovs.02-0941. Invest Ophthalmol Vis Sci. 2003. PMID: 12657606

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

12,280 results

Search Page

Filters