Bird AC - Search Results

1

RP1 protein truncating mutations predominate at the RP1 adRP locus.

Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS. Payne A, et al. Among authors: bird ac. Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4069-73. Invest Ophthalmol Vis Sci. 2000. PMID: 11095597

2

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

Vithana EN, Abu-Safieh L, Pelosini L, Winchester E, Hornan D, Bird AC, Hunt DM, Bustin SA, Bhattacharya SS. Vithana EN, et al. Among authors: bird ac. Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4204-9. doi: 10.1167/iovs.03-0253. Invest Ophthalmol Vis Sci. 2003. PMID: 14507862

3

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS. Waseem NH, et al. Among authors: bird ac. Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1330-4. doi: 10.1167/iovs.06-0963. Invest Ophthalmol Vis Sci. 2007. PMID: 17325180

4

An analysis of ABCR mutations in British patients with recessive retinal dystrophies.

Papaioannou M, Ocaka L, Bessant D, Lois N, Bird A, Payne A, Bhattacharya S. Papaioannou M, et al. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):16-9. Invest Ophthalmol Vis Sci. 2000. PMID: 10634594 Free article.

5

Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.

Hardcastle AJ, David-Gray ZK, Jay M, Bird AC, Bhattacharya SS. Hardcastle AJ, et al. Among authors: bird ac. Invest Ophthalmol Vis Sci. 1997 Dec;38(13):2750-5. Invest Ophthalmol Vis Sci. 1997. PMID: 9418727

6

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster AR, Bird AC, Kimberling WJ, Payne AM, Bhattacharya SS. Leroy BP, et al. Among authors: bird ac. Exp Eye Res. 2001 May;72(5):503-9. doi: 10.1006/exer.2000.0978. Exp Eye Res. 2001. PMID: 11311042

7

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: bird ac. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002

8

Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene.

Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC. Bessant DA, et al. Among authors: bird ac. Arch Ophthalmol. 2003 Jun;121(6):793-802. doi: 10.1001/archopht.121.6.793. Arch Ophthalmol. 2003. PMID: 12796249

9

Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers.

Sepp T, Khan JC, Thurlby DA, Shahid H, Clayton DG, Moore AT, Bird AC, Yates JR. Sepp T, et al. Among authors: bird ac. Invest Ophthalmol Vis Sci. 2006 Feb;47(2):536-40. doi: 10.1167/iovs.05-1143. Invest Ophthalmol Vis Sci. 2006. PMID: 16431947

10

A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.

Abu-Safieh L, Vithana EN, Mantel I, Holder GE, Pelosini L, Bird AC, Bhattacharya SS. Abu-Safieh L, et al. Among authors: bird ac. Mol Vis. 2006 Apr 18;12:384-8. Mol Vis. 2006. PMID: 16636657 Free article.

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