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Results: 1-17 |
Results: 17
Synergy between TLR2 and TLR4: A safety mechanism
Authors: Beutler, E Gelbart, T West, C
Citation: E. Beutler et al., Synergy between TLR2 and TLR4: A safety mechanism, BL CELL M D, 27(4), 2001, pp. 728-730
Genetics of iron storage and hemochromatosis
Authors: Beutler, E Felitti, V Gelbart, T Ho, N
Citation: E. Beutler et al., Genetics of iron storage and hemochromatosis, DRUG META D, 29(4), 2001, pp. 495-499
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinicaland molecular studies
Authors: Corrons, JLV Alvarez, R Pujades, A Zarza, R Oliva, E Lasheras, G Callis, M Ribes, A Gelbart, T Beutler, E
Citation: Jlv. Corrons et al., Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinicaland molecular studies, BR J HAEM, 112(2), 2001, pp. 475-482
Large-scale screening for HFE mutations: Methodology and cost
Authors: Beutler, E Gelbart, T
Citation: E. Beutler et T. Gelbart, Large-scale screening for HFE mutations: Methodology and cost, GENET TEST, 4(2), 2000, pp. 131
A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes
Authors: Iancovici-Kidon, M Sthoeger, D Abrahamov, A Volach, B Beutler, E Gelbart, T Barak, Y
Citation: M. Iancovici-kidon et al., A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes, BL CELL M D, 26(6), 2000, pp. 567-571
A common intron 3 mutation (IVS3-48c -> g) leads to misdiagnosis of the c.845G -> A (C282Y) HFE gene mutation
Authors: Beutler, E Gelbart, T
Citation: E. Beutler et T. Gelbart, A common intron 3 mutation (IVS3-48c -> g) leads to misdiagnosis of the c.845G -> A (C282Y) HFE gene mutation, BL CELL M D, 26(3), 2000, pp. 229-233
Analysis of HFE-Codon 63/282 (H63D/C282Y) gene variants in Mexican mestizos: Blood donors and patients with hereditary hemochromatosis
Authors: Ruiz-Arguelles, GJ Garces-Eisele, J Gelbart, T Monroy-Barreto, M Reyes-Nunez, V Juarez-Morales, JL Gonzalez-Garrido, MD Ramirez-Cisneros, FJ Gallegos-Antunez, D
Citation: Gj. Ruiz-arguelles et al., Analysis of HFE-Codon 63/282 (H63D/C282Y) gene variants in Mexican mestizos: Blood donors and patients with hereditary hemochromatosis, ARCH MED R, 31(4), 2000, pp. 422-424
Triose phosphate isomerase deficiency in 3 French families: two novel nullalleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris)
Authors: Valentin, C Pissard, S Martin, J Heron, D Labrune, P Livet, MO Mayer, M Gelbart, T Schneider, A Max-Audit, I Cohen-Solal, M
Citation: C. Valentin et al., Triose phosphate isomerase deficiency in 3 French families: two novel nullalleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris), BLOOD, 96(3), 2000, pp. 1130-1135
Molecular characterization of a case of atransferrinemia
Authors: Beutler, E Gelbart, T Lee, P Trevino, R Fernandez, MA Fairbanks, VF
Citation: E. Beutler et al., Molecular characterization of a case of atransferrinemia, BLOOD, 96(13), 2000, pp. 4071-4074
PK deficiency prevalence and the limitations of a population-based survey
Authors: Beutler, E Gelbart, T
Citation: E. Beutler et T. Gelbart, PK deficiency prevalence and the limitations of a population-based survey, BLOOD, 96(12), 2000, pp. 4005-4006
Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population
Authors: Beutler, E Gelbart, T
Citation: E. Beutler et T. Gelbart, Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population, BLOOD, 95(11), 2000, pp. 3585-3588
The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
Authors: Beutler, E Felitti, V Gelbart, T Ho, N
Citation: E. Beutler et al., The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic, ANN INT MED, 133(5), 2000, pp. 329-337
Three Gaucher-disease-producing mutations in a patient with Gaucher disease: Mechanism and diagnostic implications
Authors: Beutler, E Liebman, H Gelbart, T Stefanski, E
Citation: E. Beutler et al., Three Gaucher-disease-producing mutations in a patient with Gaucher disease: Mechanism and diagnostic implications, ACT HAEMAT, 104(2-3), 2000, pp. 103-105
Commentary on HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors by Naveen Arya, Subrata Chakrabrati,Robert A. Hegele, Paul C. Adams
Authors: Beutler, E Felitti, VJ Ho, NJ Gelbart, T
Citation: E. Beutler et al., Commentary on HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors by Naveen Arya, Subrata Chakrabrati,Robert A. Hegele, Paul C. Adams, BL CELL M D, 25(22), 1999, pp. 358-360
Commentary on significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis by J. Nico P. de Villiers and Maritha J. Kotze
Authors: Beutler, E Felitti, VJ Gelbart, T Ho, N
Citation: E. Beutler et al., Commentary on significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis by J. Nico P. de Villiers and Maritha J. Kotze, BL CELL M D, 25(15), 1999, pp. 253-254
The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency
Authors: Beutler, E Gelbart, T Kondo, T Matsunaga, AT
Citation: E. Beutler et al., The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency, BLOOD, 94(8), 1999, pp. 2890-2894
Effect of ozone on red blood cell enzymes and intermediates
Authors: Zimran, A Wasser, G Forman, L Gelbart, T Beutler, E
Citation: A. Zimran et al., Effect of ozone on red blood cell enzymes and intermediates, ACT HAEMAT, 102(3), 1999, pp. 148-151
Risultati: 1-17 |