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Results: 1-25 | 26-39
Results: 1-25/39
Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family
Authors: Lewis, J Eiben, LJ Nelson, DL Cohen, JI Nichols, KE Ochs, HD Notarangelo, LD Duckett, CS
Citation: J. Lewis et al., Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family, CLIN IMMUNO, 100(1), 2001, pp. 15-23
Recombinase activating gene enzymes of lymphocytes
Authors: Notarangelo, LD Santagata, S Villa, A
Citation: Ld. Notarangelo et al., Recombinase activating gene enzymes of lymphocytes, CURR OPIN H, 8(1), 2001, pp. 41-46
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
Frasier syndrome with childhood-onset renal failure
Authors: Buzi, F Mella, P Pilotta, A Felappi, B Camerino, G Notarangelo, LD
Citation: F. Buzi et al., Frasier syndrome with childhood-onset renal failure, HORMONE RES, 55(2), 2001, pp. 77-80
Molecular cloning of ILP-2, a novel member of the inhibitor of apoptosis protein family
Authors: Richter, BWM Mir, SS Eiben, LJ Lewis, J Reffey, SB Frattini, A Tian, L Frank, S Youle, RJ Nelson, DL Notarangelo, LD Vezzoni, P Fearnhead, HO Duckett, CS
Citation: Bwm. Richter et al., Molecular cloning of ILP-2, a novel member of the inhibitor of apoptosis protein family, MOL CELL B, 21(13), 2001, pp. 4292-4301
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM
Authors: Ferrari, S Giliani, S Insalaco, A Al-Ghonaium, A Soresina, AR Loubser, M Avanzini, MA Marconi, M Badolato, R Ugazio, AG Levy, Y Catalan, N Durandy, A Tbakhi, A Notarangelo, LD Plebani, A
Citation: S. Ferrari et al., Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM, P NAS US, 98(22), 2001, pp. 12614-12619
Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis
Authors: Clementi, R zur Stadt, U Savoldi, G Varotto, S Conter, V De Fusco, C Notarangelo, LD Schneider, M Klersy, C Janka, G Danesino, C Arico, M
Citation: R. Clementi et al., Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis, J MED GENET, 38(9), 2001, pp. 643-646
GNTB-A, a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr-virus-infected B cells in X-linked lymphoproliferative disease
Authors: Bottino, C Falco, M Parolini, S Marcenaro, E Augugliaro, R Sivori, S Landi, E Biassoni, R Notarangelo, LD Moretta, L Moretta, A
Citation: C. Bottino et al., GNTB-A, a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr-virus-infected B cells in X-linked lymphoproliferative disease, J EXP MED, 194(3), 2001, pp. 235-246
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
Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency
Authors: Vihinen, M Villa, A Mella, P Schumacher, RF Savoldi, G O'Shea, JJ Candotti, F Notarangelo, LD
Citation: M. Vihinen et al., Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency, CLIN IMMUNO, 96(2), 2000, pp. 108-118
Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: Molecular and cellular characterization
Authors: Mella, P Imberti, L Brugnoni, D Pirovano, S Candotti, F Mazzolari, E Bettinardi, A Fiorini, M De Mattia, D Martire, B Plebani, A Notarangelo, LD Giliani, S
Citation: P. Mella et al., Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: Molecular and cellular characterization, CLIN IMMUNO, 95(1), 2000, pp. 39-50
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
Cutaneous CD30+cells in children with atopic dermatitis
Authors: Cavagni, G Caffarelli, C Facchetti, F Brugnoni, D Notarangelo, LD Tosoni, C Altobelli, R
Citation: G. Cavagni et al., Cutaneous CD30+cells in children with atopic dermatitis, INT A AL IM, 121(3), 2000, pp. 224-228
Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need fortight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome
Authors: Sacco, MG Ungari, M Cato, EM Villa, A Strina, D Notarangelo, LD Jonkers, J Zecca, L Facchetti, F Vezzoni, P
Citation: Mg. Sacco et al., Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need fortight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome, CANC GENE T, 7(10), 2000, pp. 1299-1306
JAK3-deficient severe combined immunodeficiency
Authors: Notarangelo, LD Candotti, F
Citation: Ld. Notarangelo et F. Candotti, JAK3-deficient severe combined immunodeficiency, IMMUNOL ALL, 20(1), 2000, pp. 97
Complete genomic organization of the human JAK3 gene and mutation analysisin severe combined immunodeficiency by single-strand conformation polymorphism
Authors: Schumacher, RF Mella, P Badolato, R Fiorini, M Savoldi, G Giliani, S Villa, A Candotti, F Tampalini, A O'Shea, JJ Notarangelo, LD
Citation: Rf. Schumacher et al., Complete genomic organization of the human JAK3 gene and mutation analysisin severe combined immunodeficiency by single-strand conformation polymorphism, HUM GENET, 106(1), 2000, pp. 73-79
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
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies
Authors: Gomez, CA Ptaszek, LM Villa, A Bozzi, F Sobacchi, C Brooks, EG Notarangelo, LD Spanopoulou, E Pan, ZQ Vezzoni, P Cortes, P Santagata, S
Citation: Ca. Gomez et al., Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies, MOL CELL B, 20(15), 2000, pp. 5653-5664
Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis
Authors: Jayoussi-Assalia, R Etzioni, A Notarangelo, LD Brill-Zamir, R Kasinetz, L Kadouri, E Gershoni-Baruch, R
Citation: R. Jayoussi-assalia et al., Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis, PRENAT DIAG, 20(10), 2000, pp. 822-823
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
Combined immunodeficiencies due to defects in signal transduction: Defectsof the gamma(c)-JAK3 signaling pathway as a model
Authors: Notarangelo, LD Giliani, S Mella, P Schumacher, RF Mazza, C Savoldi, G Rodriguez-Perez, C Badolato, R Mazzolari, E Porta, F Candotti, F Ugazio, AG
Citation: Ld. Notarangelo et al., Combined immunodeficiencies due to defects in signal transduction: Defectsof the gamma(c)-JAK3 signaling pathway as a model, IMMUNOBIOL, 202(2), 2000, pp. 106-119
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model
Authors: Notarangelo, LD Giliani, S Mazza, C Mella, P Savoldi, G Rodriguez-Perez, C Mazzolari, E Fiorini, M Duse, M Plebani, A Ugazio, AG Vihinen, M Candotti, F Schumacher, RF
Citation: Ld. Notarangelo et al., Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model, IMMUNOL REV, 178, 2000, pp. 39-48
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)
Authors: Revy, P Muto, T Levy, Y Geissmann, F Plebani, A Sanal, O Catalan, N Forveille, M Dufourcq-Lagelouse, R Gennery, A Tezcan, I Ersoy, F Kayserili, H Ugazio, AG Brousse, N Muramatsu, M Notarangelo, LD Kinoshita, K Honjo, T Fischer, A Durandy, A
Citation: P. Revy et al., Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2), CELL, 102(5), 2000, pp. 565-575
X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells
Authors: Parolini, S Bottino, C Falco, M Augugliaro, R Giliani, S Franceschini, R Ochs, HD Wolf, H Bonnefoy, JY Biassoni, R Moretta, L Notarangelo, LD Moretta, A
Citation: S. Parolini et al., X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells, J EXP MED, 192(3), 2000, pp. 337-346
X-linked immunodeficiency with hyper-IgM (XHIM)
Authors: Notarangelo, LD Hayward, AR
Citation: Ld. Notarangelo et Ar. Hayward, X-linked immunodeficiency with hyper-IgM (XHIM), CLIN EXP IM, 120(3), 2000, pp. 399-405
Risultati: 1-25 | 26-39