Moore AT - Search Results

1

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

Meyer E, Rahman F, Owens J, Pasha S, Morgan NV, Trembath RC, Stone EM, Moore AT, Maher ER. Meyer E, et al. Among authors: moore at. Mol Vis. 2009 May 18;15:1014-9. Mol Vis. 2009. PMID: 19461930 Free PMC article.

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

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

4

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: moore at. Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82. doi: 10.1167/iovs.03-0898. Invest Ophthalmol Vis Sci. 2004. PMID: 15161866

5

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ. Ebenezer ND, et al. Among authors: moore at. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8. doi: 10.1167/iovs.04-1482. Invest Ophthalmol Vis Sci. 2005. PMID: 15914600

6

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.

Forshew T, Johnson CA, Khaliq S, Pasha S, Willis C, Abbasi R, Tee L, Smith U, Trembath RC, Mehdi SQ, Moore AT, Maher ER. Forshew T, et al. Among authors: moore at. Hum Genet. 2005 Sep;117(5):452-9. doi: 10.1007/s00439-005-1309-9. Epub 2005 Jun 16. Hum Genet. 2005. PMID: 15959809

7

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER. Aligianis IA, et al. Among authors: moore at. Am J Hum Genet. 2006 Apr;78(4):702-7. doi: 10.1086/502681. Epub 2006 Feb 14. Am J Hum Genet. 2006. PMID: 16532399 Free PMC article.

8

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ. Coccia M, et al. Among authors: moore at. Hum Mol Genet. 2009 Jul 15;18(14):2643-55. doi: 10.1093/hmg/ddp206. Epub 2009 May 4. Hum Mol Genet. 2009. PMID: 19414485 Free PMC article.

9

Blue cone monochromacy: causative mutations and associated phenotypes.

Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ. Gardner JC, et al. Among authors: moore at. Mol Vis. 2009;15:876-84. Epub 2009 May 1. Mol Vis. 2009. PMID: 19421413 Free PMC article.

10

Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.

Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR. Henderson RH, et al. Among authors: moore at. Mol Vis. 2010 Jan 15;16:46-52. Mol Vis. 2010. PMID: 20087419 Free PMC article.

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