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Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia 1-gen-2002 Notarangelo, Luigi Daniele; Mazza, C; Giliani, Silvia Clara; D'Aria, C; Gandellini, F; Ravelli, C; Locatelli, Mg; Nelson, Dl; Ochs, Hd; Notarangelo, L. D.
A case of lymphoproliferative disease presenting with a clinical and immunological phenotype of common variable immunodeficiency. 1-gen-2002 Soresina, A; Insalaco, A; Giliani, Silvia Clara; Castagna, M; Forino, C; Arrighetti, A; Lougaris, V; Plebani, Alessandro
Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency. 1-gen-2002 Soresina, A; Lougaris, Vassilios; Giliani, Silvia Clara; Cardinale, F; Armenio, L; Cattalini, Marco; Notarangelo, Luigi Daniele; Plebani, Alessandro
Primary immune deficiencies unravel the molecular basis of immune response 1-gen-2003 Notarangelo, Luigi Daniele; Giliani, Silvia Clara; Mazzolari, Evelina; Gulino, Av
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria? 1-gen-2003 Buzi, F; Badolato, Raffaele; Mazza, C; Giliani, Silvia Clara; Notarangelo, Ld; Radetti, G; Plebani, Alessandro; Notarangelo, L. D.
Immunodeficienze primitive 1-gen-2004 Notarangelo, Ld; Badolato, Raffaele; Mazzolari, E; Giliani, Silvia Clara; Plebani, A.
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hot spots, effect on transcription and translation and phenotype/genotype correlation. 1-gen-2004 Jin, Y; Mazza, C; Christie, Jr; Giliani, Silvia Clara; Fiorini, M; Mella, P; Gandellini, F; Stewart, Dm; Zhu, Q; Nelson, Dl; Notarangelo, Luigi Daniele; Ochs, Hd
Reconstitution of T-cell compartment after in utero stem cell transplantation: analysis of T-cell repertoire and thymic output. 1-gen-2004 Pirovano, S; Notarangelo, Ld; Malacarne, F; Mazzolari, E; Porta, F; Lanfranchi, A; Giliani, Silvia Clara; Zucca, S; Pecorelli, Sergio; Albertini, A; Ugazio, Ag; Imberti, L.
Impaired natural and CD16-mediated NK cell cytotoxic function in WAS and XLT patients: ability of IL-2 to correct NK cell functional defect 1-gen-2004 Gismondi, A; Cifaldi, L; Mazza, C; Giliani, Silvia Clara; Parolini, Silvia; Morrone, S; Jacobelli, J; Bandiera, E; Notarangelo, Luigi Daniele; Santoni, A.
A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome. 1-gen-2004 Fiorini, Claudia; Jilani, S; Losi, Claretta Gioia; Silini, Antonietta; Giliani, Silvia Clara; Ferrari, S; Notarangelo, Luigi Daniele; Plebani, Alessandro; Sfar, T; Helal, A.
Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency. 1-gen-2004 Laffort, C; LE DEIST, F; Favre, M; CAILLAT ZUCMAN, S; RADFORD WEISS, I; Debre, M; Fraitag, S; Blanche, S; CAVAZZANA CALVO, M; DE SAINT BASILE, G; DE VILLARTAY, Jp; Giliani, Silvia Clara; Orth, G; Casanova, Jl; Bodemer, C; Fischer, A.
MECHANISMS OF PRIMARY IMMUNODEFICIENCIES: FROM BED-SIDE TO BENCH AND BACK 1-gen-2005 Notarangelo, Ld; Mazzolari, E; Forino, C; Giliani, Silvia Clara
Damaging-agent sensitivity of Artemis-deficient cell lines 1-gen-2005 Musio, A; Marrella, V; Sobacchi, C; Rucci, F; Fariselli, L; Giliani, Silvia Clara; Lanzi, G; Notarangelo, Ld; Delia, D; Colombo, R; Vezzoni, P; Villa, A.
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience 1-gen-2005 Mazzolari, Evelina; Moshous, D; Forino, Concetta; DE MARTIIS, Donatella; Offer, C; Lanfranchi, Arnalda; Giliani, Silvia Clara; Imberti, L; Pasic, S; Ugazio, Alberto Giovanni; Porta, Fulvio; Notarangelo, Luigi Daniele
Cytokine-mediated signalling and early defects in lymphoid development 1-gen-2005 Giliani, Silvia Clara; Mella, P; Savoldi, G; Mazzolari, E.
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. 1-gen-2005 Giliani, Silvia Clara; Mori, L; DE SAINT BASILE, G; LE DEIST, F; RODRIGUEZ PEREZ, C; Forino, C; Mazzolari, E; Dupuis, S; Elhasid, R; Kessel, A; Galambrun, C; Gil, J; Fischer, A; Etzioni, A; Notarangelo, Luigi Daniele
Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation 1-gen-2006 Pai, S. Y.; Demartiis, D; Forino, Concetta; Cavagnini, Sara; Lanfranchi, Arnalda; Giliani, Silvia Clara; Moratto, Daniele; Mazza, C; Porta, Fulvio; Imberti, L; Notarangelo, Luigi Daniele; Mazzolari, Evelina
Omenn syndrome in an infant with IL7RA gene mutation 1-gen-2006 Giliani, Silvia Clara; Bonfim, C; DE SAINT BASILE, G; Lanzi, G; Brousse, N; Koliski, A; Malvezzi, M; Fischer, A; Notarangelo, Luigi Daniele; LE DEIST, F.
The Wiskott-Aldrich syndrome: From genotype-phenotype correlation to treatment 1-gen-2007 Moratto, Daniele; Giliani, Silvia Clara; Notarangelo, Ld; Mazza, C; Mazzolari, E; Notarangelo, Ld
The Wiskott-Aldrich sindrome: from genotype-phenotype correlation to treatment. 1-gen-2007 Moratto, D; Giliani, Silvia Clara; Notarangelo, Ld; Mazza, C; Mazzolari, E; Notarangelo, Ld
Mostrati risultati da 41 a 60 di 211
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