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Results: 1-12 |
Results: 12
The mutational spectrum of human malignant autosomal recessive osteopetrosis
Authors: Sobacchi, C Frattini, A Orchard, P Porras, O Tezcan, I Andolina, M Babul-Hirji, R Baric, I Canham, N Chitayat, D Dupuis-Girod, S Ellis, I Etzioni, A Fasth, A Fisher, A Gerritsen, B Gulino, V Horwitz, E Klamroth, V Lanino, E Mirolo, M Musio, A Matthijs, G Nonomaya, S Notarangelo, LD Ochs, HD Furga, AS Valiaho, J van Hove, JLK Vihinen, M Vujic, D Vezzoni, P Villa, A
Citation: C. Sobacchi et al., The mutational spectrum of human malignant autosomal recessive osteopetrosis, HUM MOL GEN, 10(17), 2001, pp. 1767-1773
Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original "Kostmann family" and a review
Authors: Carlsson, G Fasth, A
Citation: G. Carlsson et A. Fasth, Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original "Kostmann family" and a review, ACT PAEDIAT, 90(7), 2001, pp. 757-764
Construct validity of ILAR and EULAR criteria in juvenile idiopathic arthritis: A population based incidence study from the Nordic countries
Authors: Berntson, L Fasth, A Andersson-Gare, B Kristinsson, J Lahdenne, P Marhaug, G Nielsen, S Pelkonen, P Svensson, E
Citation: L. Berntson et al., Construct validity of ILAR and EULAR criteria in juvenile idiopathic arthritis: A population based incidence study from the Nordic countries, J RHEUMATOL, 28(12), 2001, pp. 2737-2743
Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant registry and the National Marrow Donor Program
Authors: Filipovich, AH Stone, JV Tomany, SC Ireland, M Kollman, C Pelz, CJ Casper, JT Cowan, MJ Edwards, JR Fasth, A Gale, RP Junker, A Kamani, NR Loechelt, BJ Pietryga, DW Ringden, O Vowels, M Hegland, J Williams, AV Klein, JP Sobocinski, KA Rowlings, PA Horowitz, MM
Citation: Ah. Filipovich et al., Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant registry and the National Marrow Donor Program, BLOOD, 97(6), 2001, pp. 1598-1603
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations
Authors: Villa, A Sobacchi, C Notarangelo, LD Bozzi, F Abinun, M Abrahamsen, TG Arkwright, PD Baniyash, M Brooks, EG Conley, ME Cortes, P Duse, M Fasth, A Filipovich, AM Infante, AJ Jones, A Mazzolari, E Muller, SM Pasic, S Rechavi, G Sacco, MG Santagata, S Schroeder, ML Seger, R Strina, D Ugazio, A Valiaho, J Vihinen, M Vogler, LB Ochs, H Vezzoni, P Friedrich, W Schwarz, K
Citation: A. Villa et al., V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations, BLOOD, 97(1), 2001, pp. 81-88
Serum tumor marker CA 125 is an early and sensitive indicator of veno-occlusive disease in children undergoing bone marrow transplantation
Authors: Petaja, J Pitkanen, S Vettenranta, K Fasth, A Heikinheimo, M
Citation: J. Petaja et al., Serum tumor marker CA 125 is an early and sensitive indicator of veno-occlusive disease in children undergoing bone marrow transplantation, CLIN CANC R, 6(2), 2000, pp. 531-535
Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: Evidence for interactions between the kinase and pseudokinase domains
Authors: Chen, M Cheng, A Candotti, F Zhou, YJ Hymel, A Fasth, A Notarangelo, LD O'Shea, JJ
Citation: M. Chen et al., Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: Evidence for interactions between the kinase and pseudokinase domains, MOL CELL B, 20(3), 2000, pp. 947-956
Prenatal diagnosis of RAG-deficient Omenn syndrome
Authors: Villa, A Bozzi, F Sobacchi, C Strina, D Fasth, A Pasic, S Notarangelo, LD Vezzoni, P
Citation: A. Villa et al., Prenatal diagnosis of RAG-deficient Omenn syndrome, PRENAT DIAG, 20(1), 2000, pp. 56-59
Preterm infants with low immunoglobulin G levels have increased risk of neonatal sepsis but do not benefit from prophylactic immunoglobulin G
Authors: Sandberg, K Fasth, A Berger, A Eibl, M Isacson, K Lischka, A Pollack, A Tessin, I Thiringer, K
Citation: K. Sandberg et al., Preterm infants with low immunoglobulin G levels have increased risk of neonatal sepsis but do not benefit from prophylactic immunoglobulin G, J PEDIAT, 137(5), 2000, pp. 623-628
Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis
Authors: Giliani, S Fiorini, J Mella, P Candotti, F Schumacher, RF Wengler, GS Lalatta, F Fasth, A Badolato, R Ugazio, AG Albertini, A Notarangelo, LD
Citation: S. Giliani et al., Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis, PRENAT DIAG, 19(1), 1999, pp. 36-40
Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell-depleted bone marrow transplantation - A retrospective European survey from the European Group for Bone Marrow Transplantation and the European Society for Immunodeficiency
Authors: Bertrand, Y Landais, P Friedrich, W Gerritsen, B Morgan, G Fasth, A Cavazzana-Calvo, M Porta, F Cant, A Espanol, T Muller, S Veys, P Vossen, J Haddad, E Fischer, A
Citation: Y. Bertrand et al., Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell-depleted bone marrow transplantation - A retrospective European survey from the European Group for Bone Marrow Transplantation and the European Society for Immunodeficiency, J PEDIAT, 134(6), 1999, pp. 740-748
Anaphylactoid reactions and nephrotic syndrome - a considerable risk during factor IX treatment in patients with haemophilia B and inhibitors: a report on the outcome in two brothers
Authors: Tengborn, L Hansson, S Fasth, A Lubeck, PO Berg, A Ljung, R
Citation: L. Tengborn et al., Anaphylactoid reactions and nephrotic syndrome - a considerable risk during factor IX treatment in patients with haemophilia B and inhibitors: a report on the outcome in two brothers, HAEMOPHILIA, 4(6), 1998, pp. 854-859
Risultati: 1-12 |