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Results: 1-12 |
Results: 12
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
Authors: Sohocki, MM Daiger, SP Bowne, SJ Rodriguez, JA Northrup, H Heckenlively, JR Birch, DG Mintz-Hittner, H Ruiz, RS Lewis, RA Saperstein, DA Sullivan, LS
Citation: Mm. Sohocki et al., Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies, HUM MUTAT, 17(1), 2001, pp. 42-51
Comparative analysis of aryl-hydrocarbon receptor interacting protein-like1 (Aipl1), a gene associated with inherited retinal disease in humans
Authors: Sohocki, MM Sullivan, LS Tirpak, DL Daiger, SP
Citation: Mm. Sohocki et al., Comparative analysis of aryl-hydrocarbon receptor interacting protein-like1 (Aipl1), a gene associated with inherited retinal disease in humans, MAMM GENOME, 12(7), 2001, pp. 566-568
Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene
Authors: Tzekov, RT Liu, YB Sohocki, MM Zack, DJ Daiger, SP Heckenlively, JR Birch, DG
Citation: Rt. Tzekov et al., Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene, INV OPHTH V, 42(6), 2001, pp. 1319-1327
Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina
Authors: Sears, JE Aaberg, TA Daiger, SP Moshfeghi, DM
Citation: Je. Sears et al., Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina, AM J OPHTH, 132(5), 2001, pp. 693-699
Prevalence of AIPL1 mutations in inherited retinal degenerative disease
Authors: Sohocki, MM Perrault, I Leroy, BP Payne, AM Dharmaraj, S Bhattacharya, SS Kaplan, J Maumenee, IH Koenekoop, R Meire, FM Birch, DG Heckenlively, JR Daiger, SP
Citation: Mm. Sohocki et al., Prevalence of AIPL1 mutations in inherited retinal degenerative disease, MOL GEN MET, 70(2), 2000, pp. 142-150
Evaluation of human diacylglycerol kinase, DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q
Authors: Bowne, SJ Sullivan, LS Ding, L Traer, E Prescott, SM Birch, DG Kennan, A Humphries, P Daiger, SP
Citation: Sj. Bowne et al., Evaluation of human diacylglycerol kinase, DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q, MOL VIS, 6(2), 2000, pp. 6-9
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenitalamaurosis
Authors: Sohocki, MM Bowne, SJ Sullivan, LS Blackshaw, S Cepko, CL Payne, AM Bhattacharya, SS Khaliq, S Mehdi, SQ Birch, DG Harrison, WR Elder, FFB Heckenlively, JR Daiger, SP
Citation: Mm. Sohocki et al., Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenitalamaurosis, NAT GENET, 24(1), 2000, pp. 79-83
Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15
Authors: Mears, AJ Hiriyanna, S Vervoort, R Yashar, B Gieser, L Fahrner, S Daiger, SP Heckenlively, JR Sieving, PA Wright, AF Swaroop, A
Citation: Aj. Mears et al., Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15, AM J HU GEN, 67(4), 2000, pp. 1000-1003
Identifying and mapping novel retinal-expressed ESTs from humans
Authors: Malone, K Sohocki, MM Sullivan, LS Daiger, SP
Citation: K. Malone et al., Identifying and mapping novel retinal-expressed ESTs from humans, MOL VIS, 5(5), 1999, pp. NIL_1-NIL_4
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
Localization of retina/pineal-expressed sequences: Identification of novelcandidate genes for inherited retinal disorders
Authors: Sohocki, MM Malone, KA Sullivan, LS Daiger, SP
Citation: Mm. Sohocki et al., Localization of retina/pineal-expressed sequences: Identification of novelcandidate genes for inherited retinal disorders, GENOMICS, 58(1), 1999, pp. 29-33
Risultati: 1-12 |