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Results: 1-11 |
Results: 11
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominantretinitis pigmentosa (RP13)
Authors: McKie, AB McHale, JC Keen, TJ Tarttelin, EE Goliath, R van Lith-Verhoeven, JJC Greenberg, J Ramesar, RS Hoyng, CB Cremers, FPM Mackey, DA Bhattacharya, SS Bird, AC Markham, AF Inglehearn, CF
Citation: Ab. Mckie et al., Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominantretinitis pigmentosa (RP13), HUM MOL GEN, 10(15), 2001, pp. 1555-1562
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
Authors: Toomes, C Marchbank, NJ Mackey, DA Craig, JE Newbury-Ecob, RA Bennett, CP Vize, CJ Desai, SP Black, GCM Patel, N Teimory, M Markham, AF Inglehearn, CF Churchill, AJ
Citation: C. Toomes et al., Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy, HUM MOL GEN, 10(13), 2001, pp. 1369-1378
A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype
Authors: Murton, NJ French, L Toomes, C Joseph, SS Rehman, I Hopkins, BL Inglehearn, CF Churchill, AJ
Citation: Nj. Murton et al., A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype, CYTOG C GEN, 92(1-2), 2001, pp. 97-102
CORD9 a new locus for arCRD: Mapping to 8p11, estimation of frequency, evaluation of a candidate gene
Authors: Danciger, M Hendrickson, J Lyon, J Toomes, C McHale, JC Fishman, GA Inglehearn, CF Jacobson, SG Farber, DB
Citation: M. Danciger et al., CORD9 a new locus for arCRD: Mapping to 8p11, estimation of frequency, evaluation of a candidate gene, INV OPHTH V, 42(11), 2001, pp. 2458-2465
A new pedigree with recessive CHED mapping to the CHED2 locus on 20p13
Authors: Mohamed, MD McKibbin, M Jafri, H Raashed, Y Woods, CG Inglehearn, CF
Citation: Md. Mohamed et al., A new pedigree with recessive CHED mapping to the CHED2 locus on 20p13, BR J OPHTH, 85(6), 2001, pp. 758-759
A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13
Authors: Downey, LM Keen, TJ Roberts, E Mansfield, DC Bamashmus, M Inglehearn, CF
Citation: Lm. Downey et al., A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13, AM J HU GEN, 68(3), 2001, pp. 778-781
Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus
Authors: McHale, JC McKie, AB Tarttelin, EE Inglehearn, CF
Citation: Jc. Mchale et al., Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus, CYTOG C GEN, 88(3-4), 2000, pp. 225-229
Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree
Authors: Bamashmus, MA Downey, LM Inglehearn, CF Gupta, SR Mansfield, DC
Citation: Ma. Bamashmus et al., Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree, BR J OPHTH, 84(4), 2000, pp. 358-363
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
Authors: Sullivan, LS Heckenlively, JR Bowne, SJ Zuo, J Hide, WA Gal, A Denton, M Inglehearn, CF Blanton, SH Daiger, SP
Citation: Ls. Sullivan et al., Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa, NAT GENET, 22(3), 1999, pp. 255-259
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa
Authors: Bowne, SJ Daiger, SP Hims, MM Sohocki, MM Malone, KA McKie, AB Heckenlively, JR Birch, DG Inglehearn, CF Bhattacharya, SS Bird, A Sullivan, LS
Citation: Sj. Bowne et al., Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa, HUM MOL GEN, 8(11), 1999, pp. 2121-2128
A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q
Authors: Inglehearn, CF McHale, JC Keen, TJ Skirton, H Lunt, PW
Citation: Cf. Inglehearn et al., A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q, J MED GENET, 36(8), 1999, pp. 646-648
Risultati: 1-11 |