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Results: 1-25 | 26-29
Results: 1-25/29
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
An analysis of allelic variation in the ABCA4 gene
Authors: Webster, AR Heon, E Lotery, AJ Vandenburgh, K Casavant, TL Oh, KT Beck, G Fishman, GA Lam, BL Levin, A Heckenlively, JR Jacobson, SG Weleber, RG Sheffield, VC Stone, EM
Citation: Ar. Webster et al., An analysis of allelic variation in the ABCA4 gene, INV OPHTH V, 42(6), 2001, pp. 1179-1189
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
The role of perinatal stress in simplex retinitis pigmentosa: evidence from surveys in Australia and the United States
Authors: Stone, J Maslim, J Fawzi, AA Lancaster, P Heckenlively, JR
Citation: J. Stone et al., The role of perinatal stress in simplex retinitis pigmentosa: evidence from surveys in Australia and the United States, CAN J OPHTH, 36(6), 2001, pp. 315-322
Leber congenital amaurosis and retinitis pigmentosa with coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
Authors: den Hollander, AI Heckenlively, JR van den Born, LI de Kok, YJM van der Velde-Visser, SD Kellner, U Jurklies, B van Schooneveld, MJ Blankenagel, A Rohrschneider, K Wissinger, B Cruysberg, JRM Deutman, AF Brunner, HG Apfeldstedt-Sylla, E Hoyng, CB Cremers, FPM
Citation: Ai. Den Hollander et al., Leber congenital amaurosis and retinitis pigmentosa with coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene, AM J HU GEN, 69(1), 2001, pp. 198-203
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
Mutations in MKKS cause Bardet-Biedl syndrome
Authors: Slavotinek, AM Stone, EM Mykytyn, K Heckenlively, JR Green, JS Heon, E Musarella, MA Parfrey, PS Sheffield, VC Biesecker, LG
Citation: Am. Slavotinek et al., Mutations in MKKS cause Bardet-Biedl syndrome, NAT GENET, 26(1), 2000, pp. 15-16
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
Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene
Authors: Ikeda, S Shiva, N Ikeda, A Smith, RS Nusinowitz, S Yan, G Lin, TR Chu, S Heckenlively, JR North, MA Naggert, JK Nishina, PM Duyao, MP
Citation: S. Ikeda et al., Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene, HUM MOL GEN, 9(2), 2000, pp. 155-163
Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract
Authors: Smith, RS Hawes, NL Chang, B Roderick, TH Akeson, EC Heckenlively, JR Gong, XH Wang, X Davisson, MT
Citation: Rs. Smith et al., Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract, GENOMICS, 63(3), 2000, pp. 314-320
Diagnostic and therapeutic challenges
Authors: Eifrig, DE Heckenlively, JR Smiddy, WE Weleber, RG
Citation: De. Eifrig et al., Diagnostic and therapeutic challenges, RETINA, 20(1), 2000, pp. 90-93
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration
Authors: Milam, AH Curcio, CA Cideciyan, AV Saxena, S John, SK Kruth, HS Malek, G Heckenlively, JR Weleber, RG Jacobson, SG
Citation: Ah. Milam et al., Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration, OPHTHALMOL, 107(12), 2000, pp. 2256-2266
Retinal degeneration 6 (rd6): A new mouse model for human retinitis punctata albescens
Authors: Hawes, NL Chang, B Hageman, GS Nusinowitz, S Nishina, PM Schneider, BS Smith, RS Roderick, TH Davisson, MT Heckenlively, JR
Citation: Nl. Hawes et al., Retinal degeneration 6 (rd6): A new mouse model for human retinitis punctata albescens, INV OPHTH V, 41(10), 2000, pp. 3149-3157
Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
Authors: Sligh, JE Levy, SE Waymire, KG Allard, P Dillehay, DL Nusinowitz, S Heckenlively, JR MacGregor, GR Wallace, DC
Citation: Je. Sligh et al., Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice, P NAS US, 97(26), 2000, pp. 14461-14466
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse
Authors: Akhmedov, NB Piriev, NI Chang, B Rapoport, AL Hawes, NL Nishina, PM Nusinowitz, S Heckenlively, JR Roderick, TH Kozak, CA Danciger, M Davisson, MT Farber, DB
Citation: Nb. Akhmedov et al., A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse, P NAS US, 97(10), 2000, pp. 5551-5556
Autoimmune retinopathy - Patients with antirecoverin immunoreactivity and panretinal degeneration
Authors: Heckenlively, JR Fawzi, AA Oversier, J Jordan, BL Aptsiauri, N
Citation: Jr. Heckenlively et al., Autoimmune retinopathy - Patients with antirecoverin immunoreactivity and panretinal degeneration, ARCH OPHTH, 118(11), 2000, pp. 1525-1533
Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I
Authors: Astuto, LM Weston, MD Carney, CA Hoover, DM Cremers, CWRJ Wagenaar, M Moller, C Smith, RJH Pieke-Dahl, S Greenberg, J Ramesar, R Jacobson, SG Ayuso, C Heckenlively, JR Tamayo, M Gorin, MB Reardon, W Kimerling, WJ
Citation: Lm. Astuto et al., Genetic heterogeneity of Usher syndrome: Analysis of 151 families with Usher type I, AM J HU GEN, 67(6), 2000, pp. 1569-1574
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
Mouse fundus photography and angiography: A catalogue of normal and mutantphenotypes
Authors: Hawes, NL Smith, RS Chang, B Davisson, M Heckenlively, JR John, SWM
Citation: Nl. Hawes et al., Mouse fundus photography and angiography: A catalogue of normal and mutantphenotypes, MOL VIS, 5(22), 1999, pp. NIL_1-NIL_8
Identification of a missense mutation in the alpha A-crystallin gene of the lop18 mouse
Authors: Chang, B Hawes, NL Roderick, TH Smith, RS Heckenlively, JR Horwitz, J Davisson, MT
Citation: B. Chang et al., Identification of a missense mutation in the alpha A-crystallin gene of the lop18 mouse, MOL VIS, 5(21), 1999, pp. NIL_1-NIL_5
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
Authors: den Hollander, AI ten Brink, JB de Kok, YJM van Soest, S van den Born, LI van Driel, MA van de Pol, DJR Payne, AM Bhattacharya, SS Kellner, U Hoyng, CB Westerveld, A Brunner, HG Bleeker-Wagemakers, EM Deutman, AF Heckenlively, JR Cremers, FPM Bergen, AAB
Citation: Ai. Den Hollander et al., Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12), NAT GENET, 23(2), 1999, pp. 217-221
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
Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice
Authors: Chang, B Smith, RS Hawes, NL Anderson, MG Zabaleta, A Savinova, O Roderick, TH Heckenlively, JR Davisson, MT John, SWM
Citation: B. Chang et al., Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice, NAT GENET, 21(4), 1999, pp. 405-409
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
Integrated genetic and physical map of the 1q3 -> q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes
Authors: van Soest, S van Rossem, MJ Heckenlively, JR van den Born, LI de Meulemeester, TMAMO Vliex, S de Jong, PTVM Bleeker-Wagemakers, EM Westerveld, A Bergen, AAB
Citation: S. Van Soest et al., Integrated genetic and physical map of the 1q3 -> q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes, CYTOG C GEN, 84(1-2), 1999, pp. 22-27
Risultati: 1-25 | 26-29