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Results: 1-15 |
Results: 15
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
Authors: Kemp, S Pujol, A Waterham, HR van Geel, BM Boehm, CD Raymond, GV Cutting, GR Wanders, RJA Hugo, HW
Citation: S. Kemp et al., ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations, HUM MUTAT, 18(6), 2001, pp. 499-515
A PDZ-binding motif is essential but not sufficient to localize the C terminus of CFTR to the apical membrane
Authors: Milewski, MI Mickle, JE Forrest, JK Stafford, DM Moyer, BD Cheng, J Guggino, WB Stanton, BA Cutting, GR
Citation: Mi. Milewski et al., A PDZ-binding motif is essential but not sufficient to localize the C terminus of CFTR to the apical membrane, J CELL SCI, 114(4), 2001, pp. 719-726
Developmentally regulated expression of GABA receptor rho 1, and rho 2 subunits, L7 and cone-rod homeobox (CRX) genes in mouse retina
Authors: Wu, YX Cutting, GR
Citation: Yx. Wu et Gr. Cutting, Developmentally regulated expression of GABA receptor rho 1, and rho 2 subunits, L7 and cone-rod homeobox (CRX) genes in mouse retina, BRAIN RES, 912(1), 2001, pp. 1-8
Mutation in the gene responsible for cystic fibrosis and predisposition tochronic rhinosinusitis in the general population
Authors: Wang, XJ Moylan, B Leopold, DA Kim, J Rubenstein, RC Togias, A Proud, D Zeitlin, PL Cutting, GR
Citation: Xj. Wang et al., Mutation in the gene responsible for cystic fibrosis and predisposition tochronic rhinosinusitis in the general population, J AM MED A, 284(14), 2000, pp. 1814-1819
Genotype-phenotype relationships in cystic fibrosis
Authors: Mickle, JE Cutting, GR
Citation: Je. Mickle et Gr. Cutting, Genotype-phenotype relationships in cystic fibrosis, MED CLIN NA, 84(3), 2000, pp. 597
The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the apical plasma membrane
Authors: Moyer, BD Duhaime, M Shaw, C Denton, J Reynolds, D Karlson, KH Pfeiffer, J Wang, SS Mickle, JE Milewski, M Cutting, GR Guggino, WB Li, M Stanton, BA
Citation: Bd. Moyer et al., The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the apical plasma membrane, J BIOL CHEM, 275(35), 2000, pp. 27069-27074
Simplified multiplex-PCR diagnosis of common southeast Asian deletional determinants of alpha-thalassemia
Authors: Chong, SS Boehm, CD Cutting, GR Higgs, DR
Citation: Ss. Chong et al., Simplified multiplex-PCR diagnosis of common southeast Asian deletional determinants of alpha-thalassemia, CLIN CHEM, 46(10), 2000, pp. 1692-1695
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia
Authors: Chong, SS Boehm, CD Higgs, DR Cutting, GR
Citation: Ss. Chong et al., Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia, BLOOD, 95(1), 2000, pp. 360-362
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels
Authors: Mickle, JE Milewski, MI Macek, M Cutting, GR
Citation: Je. Mickle et al., Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels, AM J HU GEN, 66(5), 2000, pp. 1485-1495
Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy
Authors: Boehm, CD Cutting, GR Lachtermacher, MB Moser, HW Chong, SS
Citation: Cd. Boehm et al., Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy, MOL GEN MET, 66(2), 1999, pp. 128-136
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
Authors: Zielenski, J Corey, M Rozmahel, R Markiewicz, D Aznarez, I Casals, T Larriba, S Mercier, B Cutting, GR Krebsova, A Macek, M Langfelder-Schwind, E Marshall, BC DeCelie-Germana, J Claustres, M Palacio, A Bal, J Nowakowska, A Ferec, C Estivill, X Durie, P Tsui, LC
Citation: J. Zielenski et al., Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13, NAT GENET, 22(2), 1999, pp. 128-129
GABA(C) receptor rho subunits are heterogeneously expressed in the human CNS and form homo- and heterooligomers with distinct physical properties
Authors: Enz, R Cutting, GR
Citation: R. Enz et Gr. Cutting, GABA(C) receptor rho subunits are heterogeneously expressed in the human CNS and form homo- and heterooligomers with distinct physical properties, EUR J NEURO, 11(1), 1999, pp. 41-50
Expression of the voltage-gated chloride channel CIC-2 in rod bipolar cells of the rat retina
Authors: Enz, R Ross, BJ Cutting, GR
Citation: R. Enz et al., Expression of the voltage-gated chloride channel CIC-2 in rod bipolar cells of the rat retina, J NEUROSC, 19(22), 1999, pp. 9841-9847
A PDZ-interacting domain in CFTR is an apical membrane polarization signal
Authors: Moyer, BD Denton, J Karlson, KH Reynolds, D Wang, SS Mickle, JE Milewski, H Cutting, GR Guggino, WB Li, M Stanton, BA
Citation: Bd. Moyer et al., A PDZ-interacting domain in CFTR is an apical membrane polarization signal, J CLIN INV, 104(10), 1999, pp. 1353-1361
Identification of 70 amino acids important for GABA(C) receptor rho 1 sub-unit assembly
Authors: Enz, R Cutting, GR
Citation: R. Enz et Gr. Cutting, Identification of 70 amino acids important for GABA(C) receptor rho 1 sub-unit assembly, BRAIN RES, 846(2), 1999, pp. 177-185
Risultati: 1-15 |