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Results: 1-13 |
Results: 13
Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among swiss patients
Authors: Schuurmans, MM Schneider-Yin, X Rufenacht, UB Schnyder, C Minder, CE Puy, H Deybach, JC Minder, EI
Citation: Mm. Schuurmans et al., Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among swiss patients, MOL MED, 7(8), 2001, pp. 535-542
Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria
Authors: Lamoril, J Puy, H Whatley, SD Martin, C Woolf, JR Da Silva, V Deybach, JC Elder, GH
Citation: J. Lamoril et al., Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria, AM J HU GEN, 68(5), 2001, pp. 1130-1138
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms
Authors: Robreau-Fraolini, AM Puy, H Aquaron, C Bogard, C Traore, M Nordmann, Y Aquaron, R Deybach, JC
Citation: Am. Robreau-fraolini et al., Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms, HUM GENET, 107(2), 2000, pp. 150-159
Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors
Authors: Andant, C Puy, H Bogard, C Faivre, J Soule, JC Nordmann, Y Deybach, JC
Citation: C. Andant et al., Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors, J HEPATOL, 32(6), 2000, pp. 933-939
Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria
Authors: Schneider-Yin, X Bogard, C Rufenacht, UB Puy, H Nordmann, Y Minder, EI Deybach, JC
Citation: X. Schneider-yin et al., Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria, HUMAN HERED, 50(4), 2000, pp. 247-250
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update
Authors: Rosipal, R Lamoril, J Puy, H Da Silva, V Gouya, L De Rooij, FWM Te Velde, K Nordmann, Y Martasek, P Deybach, JC
Citation: R. Rosipal et al., Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update, HUM MUTAT, 13(1), 1999, pp. 44-53
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria
Authors: Gross, U Puy, H Doss, M Robreau, AM Nordmann, Y Doss, MO Deybach, JC
Citation: U. Gross et al., New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria, MOL CELL PR, 13(6), 1999, pp. 443-447
Hepatic porphyrias.
Authors: Nordmann, Y Puy, H Deybach, JC
Citation: Y. Nordmann et al., Hepatic porphyrias., REV MED IN, 20(4), 1999, pp. 333-340
Heme and acute inflammation - Role in vivo of heme in the hepatic expression of positive acute-phase reactants in rats
Authors: Lyoumi, S Puy, H Tamion, F Bogard, C Leplingard, A Scotte, M Vranckx, R Gauthier, F Hiron, M Daveau, M Nordmann, Y Deybach, JC Lebreton, JP
Citation: S. Lyoumi et al., Heme and acute inflammation - Role in vivo of heme in the hepatic expression of positive acute-phase reactants in rats, EUR J BIOCH, 261(1), 1999, pp. 190-196
Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis
Authors: Tchernitchko, D Lamoril, J Puy, H Robreau, AM Bogard, C Rosipal, R Gouya, L Deybach, JC Nordmann, Y
Citation: D. Tchernitchko et al., Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis, CLIN CHIM A, 279(1-2), 1999, pp. 133-143
Inheritance in erythropoietic protoporphyria: A common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation
Authors: Gouya, L Puy, H Lamoril, J Da Silva, V Grandchamp, B Nordmann, Y Deybach, JC
Citation: L. Gouya et al., Inheritance in erythropoietic protoporphyria: A common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation, BLOOD, 93(6), 1999, pp. 2105-2110
Variegate porphyria in western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation
Authors: Whatley, SD Puy, H Morgan, RR Robreau, AM Roberts, AG Nordmann, Y Elder, GH Deybach, JC
Citation: Sd. Whatley et al., Variegate porphyria in western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation, AM J HU GEN, 65(4), 1999, pp. 984-994
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria
Authors: Puy, H Gross, U Deybach, JC Robreau, AM Frank, M Nordmann, Y Doss, M
Citation: H. Puy et al., Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria, HUM GENET, 103(5), 1998, pp. 570-575
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