Moore AT - Search Results

1

Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter.

Holder GE, Votruba M, Carter AC, Bhattacharya SS, Fitzke FW, Moore AT. Holder GE, et al. Among authors: moore at. Doc Ophthalmol. 1998-1999;95(3-4):217-28. doi: 10.1023/a:1001844021014. Doc Ophthalmol. 1998. PMID: 10532406

2

Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

Evans K, al-Maghtheh M, Fitzke FW, Moore AT, Jay M, Inglehearn CF, Arden GB, Bird AC. Evans K, et al. Among authors: moore at. Br J Ophthalmol. 1995 Sep;79(9):841-6. doi: 10.1136/bjo.79.9.841. Br J Ophthalmol. 1995. PMID: 7488604 Free PMC article.

3

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.

Kim RY, Fitzke FW, Moore AT, Jay M, Inglehearn C, Arden GB, Bhattacharya SS, Bird AC. Kim RY, et al. Among authors: moore at. Br J Ophthalmol. 1995 Jan;79(1):23-7. doi: 10.1136/bjo.79.1.23. Br J Ophthalmol. 1995. PMID: 7880785 Free PMC article.

4

Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.

Moore AT, Fitzke F, Jay M, Arden GB, Inglehearn CF, Keen TJ, Bhattacharya SS, Bird AC. Moore AT, et al. Br J Ophthalmol. 1993 Aug;77(8):473-9. doi: 10.1136/bjo.77.8.473. Br J Ophthalmol. 1993. PMID: 8025041 Free PMC article.

5

Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.

Votruba M, Moore AT, Bhattacharya SS. Votruba M, et al. Among authors: moore at. J Med Genet. 1997 Feb;34(2):117-21. doi: 10.1136/jmg.34.2.117. J Med Genet. 1997. PMID: 9039986 Free PMC article.

6

Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees.

Votruba M, Moore AT, Bhattacharya SS. Votruba M, et al. Among authors: moore at. Hum Genet. 1998 Jan;102(1):79-86. doi: 10.1007/s004390050657. Hum Genet. 1998. PMID: 9490303

7

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy.

Votruba M, Fitzke FW, Holder GE, Carter A, Bhattacharya SS, Moore AT. Votruba M, et al. Among authors: moore at. Arch Ophthalmol. 1998 Mar;116(3):351-8. doi: 10.1001/archopht.116.3.351. Arch Ophthalmol. 1998. PMID: 9514489

8

Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.

Votruba M, Moore AT, Bhattacharya SS. Votruba M, et al. Among authors: moore at. J Med Genet. 1998 Oct;35(10):793-800. doi: 10.1136/jmg.35.10.793. J Med Genet. 1998. PMID: 9783700 Free PMC article. Review.

9

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: moore at. Ophthalmology. 2000 Jan;107(1):55-61. doi: 10.1016/s0161-6420(99)00038-x. Ophthalmology. 2000. PMID: 10647719

10

Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.

al-Maghtheh M, Inglehearn CF, Keen TJ, Evans K, Moore AT, Jay M, Bird AC, Bhattacharya SS. al-Maghtheh M, et al. Among authors: moore at. Hum Mol Genet. 1994 Feb;3(2):351-4. doi: 10.1093/hmg/3.2.351. Hum Mol Genet. 1994. PMID: 8004108

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