1 - 25 of 44 results for author:"Bird A.C." in Literature citations
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| Novel frameshift mutation in the p16/INK4A tumor suppressor gene in canine breast cancer alters expression from the p16/INK4A/p14ARF locus. Lutful Kabir F.M., Agarwal P., Deinnocentes P., Zaman J., Bird A.C., Bird R.C. J. Cell. Biochem. 114:56-66(2013) · UniProtKB (5) |
| Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Cipriani V., Leung H.T., Plagnol V., Bunce C., Khan J.C., Shahid H., Moore A.T., Harding S.P., Bishop P.N., Hayward C. et al. Hum. Mol. Genet. 21:4138-4150(2012) · Mapped (19) |
| Identification of anti-retinal antibodies in patients with age-related macular degeneration. Morohoshi K., Ohbayashi M., Patel N., Chong V., Bird A.C., Ono S.J. Exp. Mol. Pathol. 93:193-199(2012) · Mapped (8) |
| Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Sofat R., Casas J.P., Webster A.R., Bird A.C., Mann S.S., Yates J.R., Moore A.T., Sepp T., Cipriani V., Bunce C. et al. Int J Epidemiol 41:250-262(2012) · Mapped (5) |
| Phenotypic variation in enhanced S-cone syndrome. Audo I., Michaelides M., Robson A.G., Hawlina M., Vaclavik V., Sandbach J.M., Neveu M.M., Hogg C.R., Hunt D.M., Moore A.T. et al. Invest. Ophthalmol. Vis. Sci. 49:2082-2093(2008) · Mapped (5) |
| ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. Michaelides M., Chen L.L., Brantley M.A. Jr., Andorf J.L., Isaak E.M., Jenkins S.A., Holder G.E., Bird A.C., Stone E.M., Webster A.R. Br J Ophthalmol 91:1650-1655(2007) · Mapped (8) |
| Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? Audo I., Vanakker O.M., Smith A., Leroy B.P., Robson A.G., Jenkins S.A., Coucke P.J., Bird A.C., De Paepe A., Holder G.E. et al. Invest. Ophthalmol. Vis. Sci. 48:4250-4256(2007) · Mapped (6) |
| Complement C3 variant and the risk of age-related macular degeneration. Yates J.R.W., Sepp T., Matharu B.K., Khan J.C., Thurlby D.A., Shahid H., Clayton D.G., Hayward C., Morgan J., Wright A.F. et al. N. Engl. J. Med. 357:553-561(2007) · UniProtKB (1) · Mapped (4) |
| Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. Waseem N.H., Vaclavik V., Webster A., Jenkins S.A., Bird A.C., Bhattacharya S.S. Invest. Ophthalmol. Vis. Sci. 48:1330-1334(2007) · Mapped (5) |
| Novel phenotypic and genotypic findings in X-linked retinoschisis. Tsang S.H., Vaclavik V., Bird A.C., Robson A.G., Holder G.E. Arch. Ophthalmol. 125:259-267(2007) · Mapped (2) |
| Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause 'cone dystrophy with supernormal rod electroretinogram' in humans. Wu H., Cowing J.A., Michaelides M., Wilkie S.E., Jeffery G., Jenkins S.A., Mester V., Bird A.C., Robson A.G., Holder G.E. et al. Am. J. Hum. Genet. 79:574-579(2006) · UniProtKB (1) · Mapped (1) |
| A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. Abu-Safieh L., Vithana E.N., Mantel I., Holder G.E., Pelosini L., Bird A.C., Bhattacharya S.S. Mol. Vis. 12:384-388(2006) · Mapped (5) |
| Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Sepp T., Khan J.C., Thurlby D.A., Shahid H., Clayton D.G., Moore A.T., Bird A.C., Yates J.R. Invest. Ophthalmol. Vis. Sci. 47:536-540(2006) · Mapped (5) |
| The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Dharmaraj S., Leroy B.P., Sohocki M.M., Koenekoop R.K., Perrault I., Anwar K., Khaliq S., Devi R.S., Birch D.G., De Pool E. et al. Arch. Ophthalmol. 122:1029-1037(2004) · Mapped (11) |
| Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? Vithana E.N., Abu-Safieh L., Pelosini L., Winchester E., Hornan D., Bird A.C., Hunt D.M., Bustin S.A., Bhattacharya S.S. Invest. Ophthalmol. Vis. Sci. 44:4204-4209(2003) · Mapped (5) |
| RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. Zito I., Downes S.M., Patel R.J., Cheetham M.E., Ebenezer N.D., Jenkins S.A., Bhattacharya S.S., Webster A.R., Holder G.E., Bird A.C. et al. J. Med. Genet. 40:609-615(2003) · UniProtKB (1) |
| Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. Bessant D.A., Holder G.E., Fitzke F.W., Payne A.M., Bhattacharya S.S., Bird A.C. Arch. Ophthalmol. 121:793-802(2003) · Mapped (1) |
| Mutations in the CACNA1F and NYX genes in British CSNBX families. Zito I., Allen L.E., Patel R.J., Meindl A., Bradshaw K., Yates J.R., Bird A.C., Erskine L., Cheetham M.E., Webster A.R. et al. Hum. Mutat. 21:169-169(2003) · Mapped (3) |
| Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Keen T.J., Hims M.M., McKie A.B., Moore A.T., Doran R.M., Mackey D.A., Mansfield D.C., Mueller R.F., Bhattacharya S.S., Bird A.C. et al. Eur. J. Hum. Genet. 10:245-249(2002) · UniProtKB (1) |
| The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Maugeri A., Flothmann K., Hemmrich N., Ingvast S., Jorge P., Paloma E., Patel R., Rozet J.M., Tammur J., Testa F. et al. Eur. J. Hum. Genet. 10:197-203(2002) · Mapped (8) |
| Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Chakarova C.F., Hims M.M., Bolz H., Abu-Safieh L., Patel R.J., Papaioannou M.G., Inglehearn C.F., Keen T.J., Willis C., Moore A.T. et al. Hum. Mol. Genet. 11:87-92(2002) · UniProtKB (1) · Mapped (7) |
| Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. Payne A.M., Morris A.G., Downes S.M., Johnson S., Bird A.C., Moore A.T., Bhattacharya S.S., Hunt D.M. J. Med. Genet. 38:611-614(2001) · Mapped (2) |
| A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Vithana E.N., Abu-Safieh L., Allen M.J., Carey A., Papaioannou M., Chakarova C., Al-Maghtheh M., Ebenezer N.D., Willis C., Moore A.T. et al. |
| Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). McKie A.B., McHale J.C., Keen T.J., Tarttelin E.E., Goliath R., van Lith-Verhoeven J.J., Greenberg J., Ramesar R.S., Hoyng C.B., Cremers F.P. et al. Hum. Mol. Genet. 10:1555-1562(2001) · UniProtKB (1) · Mapped (3) |
| Spectrum of mutations in USH2A in British patients with Usher syndrome type II. Leroy B.P., Aragon-Martin J.A., Weston M.D., Bessant D.A.R., Willis C., Webster A.R., Bird A.C., Kimberling W.J., Payne A.M., Bhattacharya S.S. Exp. Eye Res. 72:503-509(2001) · UniProtKB (1) |