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Results: 1-17 |
Results: 17
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling
Authors: Doffinger, R Smahi, A Bessia, C Geissmann, F Feinberg, J Durandy, A Bodemer, C Kenwrick, S Dupuis-Girod, S Blanche, S Wood, P Rabia, SH Headon, DJ Overbeek, PA Le Deist, F Holland, SM Belani, K Kumararatne, DS Fischer, A Shapiro, R Conley, ME Reimund, E Kalhoff, H Abinun, M Munnich, A Israel, A Courtois, G Casanova, JL
Citation: R. Doffinger et al., X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa B signaling, NAT GENET, 27(3), 2001, pp. 277-285
Lesson of the week - Recurrent bacterial meningitis: the need for sensitive imaging
Authors: Carrol, ED Latif, AH Misbah, SA Flood, TJ Abinun, M Clark, JE Pugh, RE Cant, AJ
Citation: Ed. Carrol et al., Lesson of the week - Recurrent bacterial meningitis: the need for sensitive imaging, BR MED J, 323(7311), 2001, pp. 501-503
Septic shock, meningitis and adrenal hemorrhages in a twelve-year-old
Authors: Hoare, S Bajwa, RSP Abinun, M
Citation: S. Hoare et al., Septic shock, meningitis and adrenal hemorrhages in a twelve-year-old, PEDIAT INF, 20(1), 2001, pp. 89
Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency
Authors: Gilmour, KC Cranston, T Loughlin, S Gwyther, J Lester, T Espanol, T Hernandez, M Savoldi, G Davies, EG Abinun, M Kinnon, C Jones, A Gaspar, HB
Citation: Kc. Gilmour et al., Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency, BR J HAEM, 112(3), 2001, pp. 671-676
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
Neonatal bone marrow transplantation for severe combined immunodeficiency
Authors: Kane, L Gennery, AR Crooks, BNA Flood, TJ Abinun, M Cant, AJ
Citation: L. Kane et al., Neonatal bone marrow transplantation for severe combined immunodeficiency, ARCH DIS CH, 85(2), 2001, pp. F110-F113
Bone marrow transplantation for CD40 ligand deficiency: a single centre experience
Authors: Khawaja, K Gennery, AR Flood, TJ Abinun, M Cant, AJ
Citation: K. Khawaja et al., Bone marrow transplantation for CD40 ligand deficiency: a single centre experience, ARCH DIS CH, 84(6), 2001, pp. 508-511
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
Authors: Frattini, A Orchard, PJ Sobacchi, C Giliani, S Abinun, M Mattsson, JP Keeling, DJ Andersson, AK Wallbrandt, P Zecca, L Notarangelo, LD Vezzoni, P Villa, A
Citation: A. Frattini et al., Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis, NAT GENET, 25(3), 2000, pp. 343-346
Respiratory viral infections in primary immune deficiencies: significance and relevance to clinical outcome in a single BMT unit
Authors: Crooks, BNA Taylor, CE Turner, AJL Osman, HKE Abinun, M Flood, TJ Cant, AJ
Citation: Bna. Crooks et al., Respiratory viral infections in primary immune deficiencies: significance and relevance to clinical outcome in a single BMT unit, BONE MAR TR, 26(10), 2000, pp. 1097-1102
Dental manifestations in severe combined immunodeficiency following bone marrow transplantation
Authors: Cole, BOI Welbury, RR Bond, E Abinun, M
Citation: Boi. Cole et al., Dental manifestations in severe combined immunodeficiency following bone marrow transplantation, BONE MAR TR, 25(9), 2000, pp. 1007-1009
Bone marrow transplantation does not correct the hyper IgE syndrome
Authors: Gennery, AR Flood, TJ Abinun, M Cant, AJ
Citation: Ar. Gennery et al., Bone marrow transplantation does not correct the hyper IgE syndrome, BONE MAR TR, 25(12), 2000, pp. 1303-1305
Heterogeneity of juvenile dermatomyositis
Authors: Abinun, M Foster, HE Ramesh, V Craft, AW
Citation: M. Abinun et al., Heterogeneity of juvenile dermatomyositis, LANCET, 355(9210), 2000, pp. 1186-1186
N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains
Authors: Santagata, S Gomez, CA Sobacchi, C Bozzi, F Abinun, M Pasic, S Cortes, P Vezzoni, P Villa, A
Citation: S. Santagata et al., N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains, P NAS US, 97(26), 2000, pp. 14572-14577
Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia
Authors: Srinivasan, M Abinun, M Cant, AJ Tan, K Oakhill, A Steward, CG
Citation: M. Srinivasan et al., Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia, ARCH DIS CH, 83(1), 2000, pp. F21-F23
Unsuspected Pneumocystis carinii pneumonia at presentation of severe primary immunodeficiency
Authors: Berrington, JE Flood, TJ Abinun, M Galloway, A Cant, AJ
Citation: Je. Berrington et al., Unsuspected Pneumocystis carinii pneumonia at presentation of severe primary immunodeficiency, ARCH DIS CH, 82(2), 2000, pp. 144-147
Hereditary angio-oedema in children
Authors: Abinun, M
Citation: M. Abinun, Hereditary angio-oedema in children, LANCET, 353(9171), 1999, pp. 2242-2242
Importance of neurological assessment before bone marrow transplantation for osteopetrosis
Authors: Abinun, M Newson, T Rowe, PW Flood, TJ Cant, AJ
Citation: M. Abinun et al., Importance of neurological assessment before bone marrow transplantation for osteopetrosis, ARCH DIS CH, 80(3), 1999, pp. 273-274
Risultati: 1-17 |