Moore AT - Search Results

1

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

2

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.

Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A. Mackay D, et al. Am J Hum Genet. 1997 Jun;60(6):1474-8. doi: 10.1086/515468. Am J Hum Genet. 1997. PMID: 9199569 Free PMC article.

3

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.

Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. Shiels A, et al. Am J Hum Genet. 1998 Mar;62(3):526-32. doi: 10.1086/301762. Am J Hum Genet. 1998. PMID: 9497259 Free PMC article.

4

Anterior polar cataract: clinical spectrum and genetic linkage in a single family.

Ionides A, Berry V, Mackay D, Shiels A, Bhattacharya S, Moore A. Ionides A, et al. Eye (Lond). 1998;12 ( Pt 2):224-6. doi: 10.1038/eye.1998.53. Eye (Lond). 1998. PMID: 9683943

5

Connexin46 mutations in autosomal dominant congenital cataract.

Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S. Mackay D, et al. Am J Hum Genet. 1999 May;64(5):1357-64. doi: 10.1086/302383. Am J Hum Genet. 1999. PMID: 10205266 Free PMC article.

6

Clinical and genetic heterogeneity in autosomal dominant cataract.

Ionides A, Francis P, Berry V, Mackay D, Bhattacharya S, Shiels A, Moore A. Ionides A, et al. Br J Ophthalmol. 1999 Jul;83(7):802-8. doi: 10.1136/bjo.83.7.802. Br J Ophthalmol. 1999. PMID: 10381667 Free PMC article.

7

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.

Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S. Berry V, et al. Nat Genet. 2000 May;25(1):15-7. doi: 10.1038/75538. Nat Genet. 2000. PMID: 10802646

8

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B. Alexander C, et al. Nat Genet. 2000 Oct;26(2):211-5. doi: 10.1038/79944. Nat Genet. 2000. PMID: 11017080

9

Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).

Francis P, Berry V, Bhattacharya S, Moore A. Francis P, et al. Br J Ophthalmol. 2000 Dec;84(12):1376-9. doi: 10.1136/bjo.84.12.1376. Br J Ophthalmol. 2000. PMID: 11090476 Free PMC article.

10

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.

Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, Dawson G, Carey AH, Moore A, Bhattacharya SS, Quinlan RA. Berry V, et al. Am J Hum Genet. 2001 Nov;69(5):1141-5. doi: 10.1086/324158. Epub 2001 Sep 27. Am J Hum Genet. 2001. PMID: 11577372 Free PMC article.

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