Moore AT - Search Results

1

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ. Cheong SS, et al. Among authors: moore at. Am J Hum Genet. 2016 Dec 1;99(6):1338-1352. doi: 10.1016/j.ajhg.2016.09.022. Epub 2016 Nov 10. Am J Hum Genet. 2016. PMID: 27839872 Free PMC article.

2

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.

3

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

4

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.

Francis P, Chung JJ, Yasui M, Berry V, Moore A, Wyatt MK, Wistow G, Bhattacharya SS, Agre P. Francis P, et al. Hum Mol Genet. 2000 Sep 22;9(15):2329-34. doi: 10.1093/oxfordjournals.hmg.a018925. Hum Mol Genet. 2000. PMID: 11001937

5

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.

6

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Among authors: moore at. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002

7

Mutations in the CACNA1F and NYX genes in British CSNBX families.

Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ. Zito I, et al. Among authors: moore at. Hum Mutat. 2003 Feb;21(2):169. doi: 10.1002/humu.9106. Hum Mutat. 2003. PMID: 12552565

8

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

9

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

10

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

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