AAAAAA

   
Results: 1-17 |
Results: 17
Congenital erythropoietic porphyria: Prenatal diagnosis and autopsy findings in two sibling fetuses
Authors: Daikha-Dahmane, F Dommergues, M Narcy, F Gubler, MC Dumez, Y Gauthier, E Nordmann, Y Nessmann, C Terrasse, G Muller, F
Citation: F. Daikha-dahmane et al., Congenital erythropoietic porphyria: Prenatal diagnosis and autopsy findings in two sibling fetuses, PEDIATR D P, 4(2), 2001, pp. 180-184
Atypical porphyria cutanea tarda in a patient with chronic myelogenous leukemia
Authors: Granel, B Serratrice, J Bouabdallah, R Pache, X Weiller-Merli, C Swiader, L Aquaron, R Disdier, P Nordmann, Y Weiller, PJ
Citation: B. Granel et al., Atypical porphyria cutanea tarda in a patient with chronic myelogenous leukemia, DERMATOLOGY, 203(1), 2001, pp. 82-83
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
Chronic myeloid leukemia
Authors: Granel, B Serratrice, J Bouabdallah, R Pache, X Weiller-Merli, C Swiader, L Aquaron, R Disdier, P Nordmann, Y Weiller, PJ
Citation: B. Granel et al., Chronic myeloid leukemia, REV MED IN, 21, 2000, pp. 410S-411S
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
Biological diagnosis of porphyria cutanea tarda
Authors: Nordmann, Y
Citation: Y. Nordmann, Biological diagnosis of porphyria cutanea tarda, ANN DER VEN, 127(10), 2000, pp. 860-861
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
Porphyria cutanea tarda affecting a rheumatoid arthritis patient treated with methotrexate: association or coincidence?
Authors: Chalem, P Ghnassia, AM Nordmann, Y Menkes, CJ
Citation: P. Chalem et al., Porphyria cutanea tarda affecting a rheumatoid arthritis patient treated with methotrexate: association or coincidence?, RHEUMATOLOG, 38(5), 1999, pp. 453-456
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
Compound heterozygous hereditary coproporphyria with fluorescing teeth
Authors: Doss, MO Gross, U Lamoril, J Kranl, C Jacob, K Doss, M da Silva, V Freesemann, AG Deybach, JC Sepp, N Nordmann, Y
Citation: Mo. Doss et al., Compound heterozygous hereditary coproporphyria with fluorescing teeth, ANN CLIN BI, 36, 1999, pp. 680-682
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
Risultati: 1-17 |