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Results: 1-25 | 26-36
Results: 1-25/36
Vision in the ultraviolet
Authors: Hunt, DM Wilkie, SE Bowmaker, JK Poopalasundaram, S
Citation: Dm. Hunt et al., Vision in the ultraviolet, CELL MOL L, 58(11), 2001, pp. 1583-1598
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
Authors: Vithana, EN Abu-Safieh, L Allen, MJ Carey, A Papaioannou, M Chakarova, C Al-Maghtheh, M Ebenezer, ND Willis, C Moore, AT Bird, AC Hunt, DM Bhattacharya, SS
Citation: En. Vithana et al., A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11), MOL CELL, 8(2), 2001, pp. 375-381
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
Authors: Hunt, DM Rickman, L Whittock, NV Eady, RA Simrak, D Dopping-Hepenstal, PJC Stevens, HP Armstrong, DKB Hennies, HC Kuster, W Hughes, AE Arnemann, J Leigh, IM McGrath, JA Kelsell, DP Buxton, RS
Citation: Dm. Hunt et al., Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma, EUR J HUM G, 9(3), 2001, pp. 197-203
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy
Authors: Newbold, RJ Deery, EC Walker, CE Wilkie, SE Srinivasan, N Hunt, DM Bhattacharya, SS Warren, MJ
Citation: Rj. Newbold et al., The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy, HUM MOL GEN, 10(1), 2001, pp. 47-54
Patello-femoral tracking in the weight-bearing knee: a study of asymptomatic volunteers utilising dynamic magnetic resonance imaging: a preliminary report
Authors: Tennant, S Williams, A Vedi, V Kinmont, C Gedroyc, W Hunt, DM
Citation: S. Tennant et al., Patello-femoral tracking in the weight-bearing knee: a study of asymptomatic volunteers utilising dynamic magnetic resonance imaging: a preliminary report, KNEE SURG S, 9(3), 2001, pp. 155-162
Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43
Authors: Halford, S Freedman, MS Bellingham, J Inglis, SL Poopalasundaram, S Soni, BG Foster, RG Hunt, DM
Citation: S. Halford et al., Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43, GENOMICS, 72(2), 2001, pp. 203-208
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies
Authors: Payne, AM Morris, AG Downes, SM Johnson, S Bird, AC Moore, AT Bhattacharya, SS Hunt, DM
Citation: Am. Payne et al., Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies, J MED GENET, 38(9), 2001, pp. 611-614
The molecular basis for spectral tuning of rod visual pigments in deep-seafish
Authors: Hunt, DM Dulai, KS Partridge, JC Cottrill, P Bowmaker, JK
Citation: Dm. Hunt et al., The molecular basis for spectral tuning of rod visual pigments in deep-seafish, J EXP BIOL, 204(19), 2001, pp. 3333-3344
Interactions within the coiled-coil domain of RetGC-1 guanylyl cyclase areoptimized for regulation rather than for high affinity
Authors: Ramamurthy, V Tucker, C Wilkie, SE Daggett, V Hunt, DM Hurley, JB
Citation: V. Ramamurthy et al., Interactions within the coiled-coil domain of RetGC-1 guanylyl cyclase areoptimized for regulation rather than for high affinity, J BIOL CHEM, 276(28), 2001, pp. 26218-26229
Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1
Authors: Downes, SM Payne, AM Kelsell, RE Fitzke, FW Holder, GE Hunt, DM Moore, AT Bird, AC
Citation: Sm. Downes et al., Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1, ARCH OPHTH, 119(11), 2001, pp. 1667-1673
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy
Authors: Wilkie, SE Li, Y Deery, EC Newbold, RJ Garibaldi, D Bateman, JB Zhang, H Lin, W Zack, DJ Bhattacharya, SS Warren, MJ Hunt, DM Zhang, K
Citation: Se. Wilkie et al., Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy, AM J HU GEN, 69(3), 2001, pp. 471-480
Cloning, sequencing and analysis of the enterocin biosynthesis gene cluster from the marine isolate 'Streptomyces maritimus': evidence for the derailment of an aromatic polyketide synthase
Authors: Piel, J Hertweck, C Shipley, PR Hunt, DM Newman, MS Moore, BS
Citation: J. Piel et al., Cloning, sequencing and analysis of the enterocin biosynthesis gene cluster from the marine isolate 'Streptomyces maritimus': evidence for the derailment of an aromatic polyketide synthase, CHEM BIOL, 7(12), 2000, pp. 943-955
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy
Authors: Ali, RR Sarra, GM Stephens, C de Alwis, M Bainbridge, JWB Munro, PM Fauser, S Reichell, MB Kinnon, C Hunt, DM Bhattacharya, SS Thrasher, AJ
Citation: Rr. Ali et al., Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy, NAT GENET, 25(3), 2000, pp. 306-310
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy
Authors: Wilkie, SE Newbold, RJ Deery, E Walker, CE Stinton, I Ramamurthy, V Hurley, JB Bhattacharya, SS Warren, MJ Hunt, DM
Citation: Se. Wilkie et al., Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy, HUM MOL GEN, 9(20), 2000, pp. 3065-3073
A cluster of single nucleotide polymorphisms in the 5 '-leader of the human dopamine D3 receptor gene (DRD3) and its relationship to schizophrenia
Authors: Sivagnanasundaram, S Morris, AG Gaitonde, EJ McKenna, PJ Mollon, JD Hunt, DM
Citation: S. Sivagnanasundaram et al., A cluster of single nucleotide polymorphisms in the 5 '-leader of the human dopamine D3 receptor gene (DRD3) and its relationship to schizophrenia, NEUROSCI L, 279(1), 2000, pp. 13-16
Clinical outcome of congenital talipes equinovarus diagnosed antenatally by ultrasound
Authors: Tillett, RL Fisk, NM Murphy, K Hunt, DM
Citation: Rl. Tillett et al., Clinical outcome of congenital talipes equinovarus diagnosed antenatally by ultrasound, J BONE-BR V, 82B(6), 2000, pp. 876-880
The orthopaedic management of peripheral ischaemia in meningococcal septicaemia in children
Authors: Davies, MS Nadel, S Habibi, P Levin, M Hunt, DM
Citation: Ms. Davies et al., The orthopaedic management of peripheral ischaemia in meningococcal septicaemia in children, J BONE-BR V, 82B(3), 2000, pp. 383-386
Assignment of Claudin-1 (CLDN1)to human chromosome 3q28 -> q29 with somatic cell hybrids
Authors: Halford, S Spencer, P Greenwood, J Winton, H Hunt, DM Adamson, P
Citation: S. Halford et al., Assignment of Claudin-1 (CLDN1)to human chromosome 3q28 -> q29 with somatic cell hybrids, CYTOG C GEN, 88(3-4), 2000, pp. 217-217
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase
Authors: Gregory-Evans, K Kelsell, RE Gregory-Evans, CY Downes, SM Fitzke, FW Holder, GE Simunovic, M Mollon, JD Taylor, R Hunt, DM Bird, AC Moore, AT
Citation: K. Gregory-evans et al., Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase, OPHTHALMOL, 107(1), 2000, pp. 55-61
Visual responses of ganglion cells of a New-World primate, the capuchin monkey, Cebus apella
Authors: Lee, BB Silveira, LCL Yamada, ES Hunt, DM Kremers, J Martin, PR Troy, JB da Silva, M
Citation: Bb. Lee et al., Visual responses of ganglion cells of a New-World primate, the capuchin monkey, Cebus apella, J PHYSL LON, 528(3), 2000, pp. 573-590
Spectral tuning of avian violet- and ultraviolet-sensitive visual pigments
Authors: Wilkie, SE Robinson, PR Cronin, TW Poopalasundaram, S Bowmaker, JK Hunt, DM
Citation: Se. Wilkie et al., Spectral tuning of avian violet- and ultraviolet-sensitive visual pigments, BIOCHEM, 39(27), 2000, pp. 7895-7901
Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3
Authors: Whittock, NV Hunt, DM Rickman, L Malhi, S Vogazianou, AP Dawson, LF Eady, RAJ Buxton, RS McGrath, JA
Citation: Nv. Whittock et al., Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3, BIOC BIOP R, 276(2), 2000, pp. 454-460
The evolution of trichromatic color vision by opsin gene duplication in New World and Old World primates
Authors: Dulai, KS von Dornum, M Mollon, JD Hunt, DM
Citation: Ks. Dulai et al., The evolution of trichromatic color vision by opsin gene duplication in New World and Old World primates, GENOME RES, 9(7), 1999, pp. 629-638
N-terminal deletion in a desmosomal cadherin causes the autosomal dominantskin disease striate palmoplantar keratoderma
Authors: Rickman, L Simrak, D Stevens, HP Hunt, DM King, IA Bryant, SP Eady, RAJ Leigh, IM Arnemann, J Magee, AI Kelsell, DP Buxton, RS
Citation: L. Rickman et al., N-terminal deletion in a desmosomal cadherin causes the autosomal dominantskin disease striate palmoplantar keratoderma, HUM MOL GEN, 8(6), 1999, pp. 971-976
Ganglion cells of a short-wavelength-sensitive cone pathway in New World monkeys: Morphology and physiology
Authors: Silveira, LCL Lee, BB Yamada, ES Kremers, J Hunt, DM Martin, PR Gomes, FL
Citation: Lcl. Silveira et al., Ganglion cells of a short-wavelength-sensitive cone pathway in New World monkeys: Morphology and physiology, VIS NEUROSC, 16(2), 1999, pp. 333-343
Risultati: 1-25 | 26-36