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Results: 1-11 |
Results: 11
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
Authors: Notorangelo, LD Mella, P Jones, A Baisle, GD Savoldi, G Cranston, T Vihinen, M Schumacher, RF
Citation: Ld. Notorangelo et al., Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency, HUM MUTAT, 18(4), 2001, pp. 255-263
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 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
X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia
Authors: Moschese, V Orlandi, P Plebani, A Arvanitidis, K Fiorini, M Speletas, M Mella, P Ritis, K Sideras, P Finocchi, A Livadiotti, S Rossi, P
Citation: V. Moschese et al., X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia, MOL MED, 6(2), 2000, pp. 104-113
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
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
Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile
Authors: Aguila, A Nazer, J Cifuentes, L Mella, P de la Barra, P Gutierrez, D
Citation: A. Aguila et al., Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile, REV MED CHI, 128(2), 2000, pp. 162-166
Prenatal diagnosis of JAK3 deficient SCID
Authors: Schumacher, RF Mella, P Lalatta, F Fiorini, M Giliani, S Villa, A Candotti, F Notarangelo, LD
Citation: Rf. Schumacher et al., Prenatal diagnosis of JAK3 deficient SCID, PRENAT DIAG, 19(7), 1999, pp. 653-656
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
Risultati: 1-11 |