1 | RP1
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| RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
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| Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C.
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| Hum Mutat 33(1):73-80. doi: 10.1002/humu.21640. Epub 2011 Dec 1.
2012
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2 | RP1
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| Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
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| Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP.
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| Invest Ophthalmol Vis Sci 51(4):2236-42. 2010
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3 | RP1
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| Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.
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| Khaliq S, Abid A, Ismail M, Hameed A, Mohyuddin A, Lall P, Aziz A, Anwar K, Mehdi SQ.
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| J Med Genet 42(5):436-8. No abstract available. 2005
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4 | RP1, MAPK8, MAPK9, MAPK10, MAP2K4 , MAP2, JUN
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| Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations.
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| Liu J, Huang Q, Higdon J, Liu W, Xie T, Yamashita T, Cheon K, Cheng C, Zuo J.
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| Hum Mol Genet 14(19):2945-58. Epub 2005 Aug 26. 2005
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5 | RP1
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| Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
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| Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
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| Invest Ophthalmol Vis Sci 46(7):2264-70. 2005
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6 | RP1
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| Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors.
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| Liu Q, Zhou J, Daiger SP, Farber DB, Heckenlively JR, Smith JE, Sullivan LS, Zuo J, Milam AH, Pierce EA.
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| Invest Ophthalmol Vis Sci 43(1):22-32. 2002
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7 | RP1
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| A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.
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| Guillonneau X, et al.
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| Hum Mol Genet 8(8):1541-6. 1999
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8 | RP1
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| Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
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| Sullivan LS, et al.
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| Nat Genet 22(3):255-9. 1999
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9 | RP1
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| Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.
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| Pierce EA, et al.
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| Nat Genet 22(3):248-54. 1999
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10 | RP1
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| Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
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| Bowne SJ, et al.
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| Hum Mol Genet 8(11):2121-8 1999
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11 | APC, RP1
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| EB/RP gene family encodes tubulin binding proteins.
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| Juwana JP, Henderikx P, Mischo A, Wadle A, Fadle N, Gerlach K, Arends JW, Hoogenboom H, Pfreundschuh M, Renner C.
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| Int J Cancer. 81(2):275-84. 1999
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12 | RP1
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| Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285.
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| Xu SY, et al.
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| Hum Genet 98 : 741-743. 1996
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13 | RP1
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| Refined linkage and physical mapping of the chromosome 8 form of autosomal dominant retinitis pigmentosa (RP1). (abstr)
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| Sullivan LS, et al.
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| Cytogenet Cell Genet 68 : 161. 1995
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14 | RP1
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| Linkage mapping of one form of autosomal dominant retinitis pigmentosa (RP1) to 8q21-q22.
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| Daiger SP, et al.
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| Am J Hum Genet 51 : A185. 1992
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15 | RP1
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| Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.
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| Blanton SH, et al.
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| Genomics 11 : 857-869. 1991
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16 | RP1, RP4
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| No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17) : evidence for genetic heterogeneity.
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| Inglehearn CF, et al.
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| Genomics 6 : 168-173. 1990
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17 | RP1
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| Autosomal dominant retinitis pigmentosa : exclusion of the gene from the short arm of chromosome 1 including the region surrounding the Rhesus locus.
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| Bradley DG, et al.
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| Am J Hum Genet 44 : 570-576. 1989
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18 | RP1
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| Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.
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| Field LL, et al.
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| J Med Genet 19 : 266-270. 1982
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