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Results:
1-20
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Results: 20
Authors:
Palsson, R
Jonasson, JG
Kristjansson, M
Bodvarsson, A
Goldin, RD
Cox, DW
Olafsson, S
Citation: R. Palsson et al., Genotype-phenotype interactions in Wilson's disease: insight from an Icelandic mutation, EUR J GASTR, 13(4), 2001, pp. 433-436
Authors:
Nanji, M
Coronado, VA
Cox, DW
Citation: M. Nanji et al., ATP6H, a subunit of vacuolar ATPase involved in metal transport: evaluation in canine copper toxicosis, MAMM GENOME, 12(8), 2001, pp. 617-621
Authors:
Coronado, V
Nanji, M
Cox, DW
Citation: V. Coronado et al., The Jackson toxic milk mouse as a model for copper loading, MAMM GENOME, 12(10), 2001, pp. 793-795
Authors:
van de Sluis, B
Nanji, MS
Breen, M
Pearson, PL
Oost, BA
Cox, DW
Wijmenga, C
Citation: B. Van De Sluis et al., Characterization and chromosomal localization of five canine ATOX1 pseudogenes, CYTOG C GEN, 93(1-2), 2001, pp. 105-108
Authors:
Kamnasaran, D
O'Brien, PCM
Schuffenhauer, S
Quarrell, O
Lupski, JR
Grammatico, P
Ferguson-Smith, MA
Cox, DW
Citation: D. Kamnasaran et al., Defining the breakpoints of proximal chromosome 14q rearrangements in ninepatients using flow-sorted chromosomes, AM J MED G, 102(2), 2001, pp. 173-182
Authors:
Kamnasaran, D
Gerritsen, JA
McLeod, DR
Cox, DW
Citation: D. Kamnasaran et al., Features within the holoprosencephaly spectrum in sibs with a Robertsonian(14q;22q) translocation chromosome, CLIN GENET, 60(3), 2001, pp. 237-239
Authors:
Percin, EF
Ploder, LA
Yu, JJ
Arici, K
Horsford, DJ
Rutherford, A
Bapat, B
Cox, DW
Duncan, AMV
Kalnins, VI
Kocak-Altintas, A
Sowden, JC
Traboulsi, E
Sarfarazi, M
McInnes, RR
Citation: Ef. Percin et al., Human microphthalmia associated with mutations in the retinal homeobox gene CHX10, NAT GENET, 25(4), 2000, pp. 397-401
Authors:
Forbes, JR
Cox, DW
Citation: Jr. Forbes et Dw. Cox, Copper-dependent trafficking of Wilson disease mutant ATP7B proteins, HUM MOL GEN, 9(13), 2000, pp. 1927-1935
Authors:
Kamnasaran, D
O'Brien, PCM
Ferguson-Smith, MA
Cox, DW
Citation: D. Kamnasaran et al., Comparative mapping of human Chromosome 14q11.2-q13 genes with mouse homologous gene regions, MAMM GENOME, 11(11), 2000, pp. 993-999
Authors:
Moore, SDP
Chen, MM
Cox, DW
Citation: Sdp. Moore et al., Cloning and mapping of murine superoxide dismutase copper chaperone (Ccsd)and mapping of the human ortholog, CYTOG C GEN, 88(1-2), 2000, pp. 35-37
Authors:
Pigg, M
Gedde-Dahl, T
Cox, DW
Haugen, G
Dahl, N
Citation: M. Pigg et al., Haplotype association and mutation analysis of the transglutaminase 1 genefor prenatal exclusion of lamellar ichthyosis, PRENAT DIAG, 20(2), 2000, pp. 132-137
Authors:
Wilson, DC
Phillips, MJ
Cox, DW
Roberts, EA
Citation: Dc. Wilson et al., Severe hepatic Wilson's disease in preschool-aged children, J PEDIAT, 137(5), 2000, pp. 719-722
Authors:
van de Sluis, BJA
Breen, M
Nanji, M
van Wolferen, M
de Jong, P
Binns, MM
Pearson, PL
Kuipers, J
Rothuizen, J
Cox, DW
Wijmenga, C
van Oost, BA
Citation: Bja. Van De Sluis et al., Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16, HUM MOL GEN, 8(3), 1999, pp. 501-507
Authors:
Nanji, MS
Cox, DW
Citation: Ms. Nanji et Dw. Cox, The copper chaperone Atox1 in canine copper toxicosis in Bedlington terriers, GENOMICS, 62(1), 1999, pp. 108-112
Authors:
Forbes, JR
Hsi, G
Cox, DW
Citation: Jr. Forbes et al., Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease, J BIOL CHEM, 274(18), 1999, pp. 12408-12413
Authors:
Cox, DW
Citation: Dw. Cox, Disorders of copper transport, BR MED B, 55(3), 1999, pp. 544-555
Authors:
Stiskal, JA
Ito, S
Cox, DW
Shennan, AT
O'Brien, KKE
Kelly, EN
Longley, TB
Rabinovitch, M
Dunn, MS
Citation: Ja. Stiskal et al., Functional and antigenic concentrations of alpha-1-proteinase inhibitor after administration for the prevention of chronic lung disease of prematurity, BIOL NEONAT, 76(3), 1999, pp. 134-143
Authors:
Cox, DW
Povey, S
Shows, TB
Citation: Dw. Cox et al., Phyllis J. McAlpine, PhD, 1941-98: In memoriam - Obituary, AM J HU GEN, 64(4), 1999, pp. 1253-1254
Authors:
Duc, HH
Hefter, H
Stremmel, W
Castaneda-Guillot, C
Hernandez, AH
Cox, DW
Auburger, G
Citation: Hh. Duc et al., His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype, EUR J HUM G, 6(6), 1998, pp. 616-623
Authors:
Forbes, JR
Cox, DW
Citation: Jr. Forbes et Dw. Cox, Functional characterization of missense mutations in ATP7B: Wilson diseasemutation or normal variant?, AM J HU GEN, 63(6), 1998, pp. 1663-1674
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