Sfoglia per Autore
A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency.
1997-01-01 Ostenstad, B; Giliani, Silvia Clara; Mellbye, Oj; Nilsen, Br; Abrahamsen, T.
Structural and functional basis for JAK3-deficient severe combined immunodeficiency.
1997-01-01 Candotti, F; Oakes, Sa; Johnston, J. A.; Giliani, Silvia Clara; Schumacher, Fr; Mella, P; Fiorini, M; Ugazio, Ag; Badolato, Raffaele; Notarangelo, Luigi Daniele; Bozzi, F; Macchi, P.
Partial V(D)J recombination activity leads to Omenn syndrome
1998-01-01 Villa, A; Santagata, S; Bozzi, F; Giliani, Silvia Clara; Frattini, A; Imberti, L.; BENERINI GATTA, L; Ochs, Hd; Schwarz, K; Notarangelo, Luigi Daniele; Vezzoni, P; Spanopoulou, E.
MUTATION ANALYSIS BY A NON-RADIOACTIVE SINGLE-STRAND CONFORMATION POLYMORPHISM ASSAY IN NINE FAMILIES WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDX1).
1998-01-01 Wengler, Gs; Giliani, Silvia Clara; Fiorini, M; Mella, P; Mantuano, E; Zanola, A; Pollonini, G; Eibl, Mm; Ugazio, Ag; Notarangelo, Ld; Parolini, O.
Diagnosi prenatale in 26 feti a rischio per immunodeficienze primitive severe
1998-01-01 Cominotti, A; Giliani, Silvia Clara; Zucca, S; Bugnoni, D; Air, P; Candotti, F; Fiorini, M; Mella, P; Badolato, Raffaele; Schumacher, R. F.; Guandalini, F; Bellotti, D; Lalatta, F; Torcoli, D; Notarangelo, L. D.
Mutations in the JAK3-gene in children with autosomal recessive T-B+ SCID in the JAK3-gene in children with autosomal recessive T-B+ SCID
1998-01-01 R. F., Schumacher; P., Mella; Badolato, Raffaele; M., Fiorini; Giliani, Silvia Clara; A., Villa; F., Candotti; P., Vezzoni; L. D., Notarangelo
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome.
1998-01-01 Facchetti, Fabio; Blanzuoli, Laura; Vermi, William; Notarangelo, Luigi Daniele; Giliani, Silvia Clara; Fiorini, Maurilia; Fasth, A; Stewart, Dm; Nelson, D. L.
La sindrome di Wiskott-Aldrich e piastrinopenia X-recessiva: dalla biologia alla clinica
1999-01-01 Notarangelo, L. D.; Ugazio, A. G.; Fiorini, M; Imberbi, L; Facchetti, F; Badolato, Raffaele; Casa, C; Giliani, Silvia Clara
Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis
1999-01-01 Giliani, Silvia Clara; Fiorini, M; Mella, P; Candotti, F; Schumacher, Rf; Wengler, Gs; Lalatta, F; Fasth, A; Badolato, Raffaele; Ugazio, Ag; Albertini, Alberto; Notarangelo, L. D.
Prenatal diagnosis of JAK3 deficient SCID.
1999-01-01 Schumacher, Rf; Mella, P; Lalatta, F; Fiorini, M; Giliani, Silvia Clara; Villa, A; Candotti, F; Notarangelo, L. D.
Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model.
2000-01-01 Notarangelo, Ld; Giliani, Silvia Clara; Mella, P; Schumacher, Rf; Mazza, C; Savoldi, G; RODRIGUEZ PEREZ, C; Badolato, Raffaele; E., Mazzolari; Porta, F; Candotti, F; Ugazio, Ag
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
2000-01-01 Giliani, Silvia Clara; Lappalainen, I; Franceschini, R; Bonnefoy, Jy; Duckett, C; Notarangelo, Luigi Daniele; Vihinen, M.
Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization
2000-01-01 Mella, P; Imberti, L; Brugnoni, D; Pirovano, S; Candotti, F; E., Mazzolari; Bettinardi, A; Fiorini, M; DE MATTIA, D; Martire, B; Plebani, A; Notarangelo, Ld; Giliani, Silvia Clara
Of genes and phenotypes: the immunological and molecular spectrum of combined immunodeficiency. Defects of gc-JAK3 signalling pathway as a model.
2000-01-01 Notarangelo, Ld; Giliani, Silvia Clara; Mazza, C; Mella, P; Savoldi, G; RODRIGUEZ PEREZ, C; E., Mazzolari; Fiorini, M; Duse, M; Plebani, Alessandro; Ugazio, Ag; Vihinen, M; Candotti, F; Schumacher, Rf
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
2000-01-01 Schumacher, R. F.; Mella, P; Badolato, Raffaele; Fiorini, M; Savoldi, G; Giliani, Silvia Clara; Villa, A; Candotti, F; Tampalini, A; O'Shea, J. J. NOTARANGELO L. D.
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
2000-01-01 Frattini, A; Orchard, Pj; Sobacchi, C; Giliani, Silvia Clara; Abinun, M; Mattsson, Jp; Keeling, Dj; Andersson, Ak; Wallbrandt, P; Zecca, L; Notarangelo, Ld; Vezzoni, P; Villa, A.
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
2000-01-01 Parolini, Silvia; Bottino, C; Falco, M; Augugliaro, R; Giliani, Silvia Clara; Franceschini, R; Ochs, Hd; Wolf, H; Bonnefoy, Jy; Biassoni, R; Moretta, L; Notarangelo, Luigi Daniele; Moretta, A.
Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression
2001-01-01 Allavena, Paola; Badolato, Raffaele; Facchetti, Fabio; Vermi, William; Paganin, C; Luini, W; Giliani, Silvia Clara; Mazza, Cinzia; Bolzern, U; Chiesa, I; Notarangelo, Luigi Daniele; Mantovani, Alberto; Sozzani, Silvano
Mutations of CD40 gene cause a novel autosomal recessive form of hyper IgM (HIGM3).
2001-01-01 Giliani, Silvia Clara; Insalaco, A; Alghonaium, A; Soresina, Ar; Loubser, M; Avanzini, Ma; Marconi, M; Badolato, Raffaele; Ugazio, Ag; Levy, Y; Catalan, N; Durandy, A; Tbakhi, A; Notarangelo, Luigi Daniele; Plebani, Alessandro; Ferrari, S
Primary immunodeficiency mutation databases
2001-01-01 Vihinen, M; Arredondovega, Fx; Casanova, Jl; Etzioni, A; Giliani, Silvia Clara; Hammarstrom, L; Hershfield, Ms; Heyworth, Pg; Hsu, Ap; Lahdesmaki, A; Lappalainen, I; Notarangelo, Ld; Puck, Jm; Reith, W; Roos, D; Schumacher, Rf; Schwarz, K; Vezzoni, P; Villa, A; Valiaho, J; Smith, C. I.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency. | 1-gen-1997 | Ostenstad, B; Giliani, Silvia Clara; Mellbye, Oj; Nilsen, Br; Abrahamsen, T. | |
| Structural and functional basis for JAK3-deficient severe combined immunodeficiency. | 1-gen-1997 | Candotti, F; Oakes, Sa; Johnston, J. A.; Giliani, Silvia Clara; Schumacher, Fr; Mella, P; Fiorini, M; Ugazio, Ag; Badolato, Raffaele; Notarangelo, Luigi Daniele; Bozzi, F; Macchi, P. | |
| Partial V(D)J recombination activity leads to Omenn syndrome | 1-gen-1998 | Villa, A; Santagata, S; Bozzi, F; Giliani, Silvia Clara; Frattini, A; Imberti, L.; BENERINI GATTA, L; Ochs, Hd; Schwarz, K; Notarangelo, Luigi Daniele; Vezzoni, P; Spanopoulou, E. | |
| MUTATION ANALYSIS BY A NON-RADIOACTIVE SINGLE-STRAND CONFORMATION POLYMORPHISM ASSAY IN NINE FAMILIES WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY (SCIDX1). | 1-gen-1998 | Wengler, Gs; Giliani, Silvia Clara; Fiorini, M; Mella, P; Mantuano, E; Zanola, A; Pollonini, G; Eibl, Mm; Ugazio, Ag; Notarangelo, Ld; Parolini, O. | |
| Diagnosi prenatale in 26 feti a rischio per immunodeficienze primitive severe | 1-gen-1998 | Cominotti, A; Giliani, Silvia Clara; Zucca, S; Bugnoni, D; Air, P; Candotti, F; Fiorini, M; Mella, P; Badolato, Raffaele; Schumacher, R. F.; Guandalini, F; Bellotti, D; Lalatta, F; Torcoli, D; Notarangelo, L. D. | |
| Mutations in the JAK3-gene in children with autosomal recessive T-B+ SCID in the JAK3-gene in children with autosomal recessive T-B+ SCID | 1-gen-1998 | R. F., Schumacher; P., Mella; Badolato, Raffaele; M., Fiorini; Giliani, Silvia Clara; A., Villa; F., Candotti; P., Vezzoni; L. D., Notarangelo | |
| Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. | 1-gen-1998 | Facchetti, Fabio; Blanzuoli, Laura; Vermi, William; Notarangelo, Luigi Daniele; Giliani, Silvia Clara; Fiorini, Maurilia; Fasth, A; Stewart, Dm; Nelson, D. L. | |
| La sindrome di Wiskott-Aldrich e piastrinopenia X-recessiva: dalla biologia alla clinica | 1-gen-1999 | Notarangelo, L. D.; Ugazio, A. G.; Fiorini, M; Imberbi, L; Facchetti, F; Badolato, Raffaele; Casa, C; Giliani, Silvia Clara | |
| Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis | 1-gen-1999 | Giliani, Silvia Clara; Fiorini, M; Mella, P; Candotti, F; Schumacher, Rf; Wengler, Gs; Lalatta, F; Fasth, A; Badolato, Raffaele; Ugazio, Ag; Albertini, Alberto; Notarangelo, L. D. | |
| Prenatal diagnosis of JAK3 deficient SCID. | 1-gen-1999 | Schumacher, Rf; Mella, P; Lalatta, F; Fiorini, M; Giliani, Silvia Clara; Villa, A; Candotti, F; Notarangelo, L. D. | |
| Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model. | 1-gen-2000 | Notarangelo, Ld; Giliani, Silvia Clara; Mella, P; Schumacher, Rf; Mazza, C; Savoldi, G; RODRIGUEZ PEREZ, C; Badolato, Raffaele; E., Mazzolari; Porta, F; Candotti, F; Ugazio, Ag | |
| Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. | 1-gen-2000 | Giliani, Silvia Clara; Lappalainen, I; Franceschini, R; Bonnefoy, Jy; Duckett, C; Notarangelo, Luigi Daniele; Vihinen, M. | |
| Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization | 1-gen-2000 | Mella, P; Imberti, L; Brugnoni, D; Pirovano, S; Candotti, F; E., Mazzolari; Bettinardi, A; Fiorini, M; DE MATTIA, D; Martire, B; Plebani, A; Notarangelo, Ld; Giliani, Silvia Clara | |
| Of genes and phenotypes: the immunological and molecular spectrum of combined immunodeficiency. Defects of gc-JAK3 signalling pathway as a model. | 1-gen-2000 | Notarangelo, Ld; Giliani, Silvia Clara; Mazza, C; Mella, P; Savoldi, G; RODRIGUEZ PEREZ, C; E., Mazzolari; Fiorini, M; Duse, M; Plebani, Alessandro; Ugazio, Ag; Vihinen, M; Candotti, F; Schumacher, Rf | |
| Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. | 1-gen-2000 | Schumacher, R. F.; Mella, P; Badolato, Raffaele; Fiorini, M; Savoldi, G; Giliani, Silvia Clara; Villa, A; Candotti, F; Tampalini, A; O'Shea, J. J. NOTARANGELO L. D. | |
| Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis | 1-gen-2000 | Frattini, A; Orchard, Pj; Sobacchi, C; Giliani, Silvia Clara; Abinun, M; Mattsson, Jp; Keeling, Dj; Andersson, Ak; Wallbrandt, P; Zecca, L; Notarangelo, Ld; Vezzoni, P; Villa, A. | |
| 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 | 1-gen-2000 | Parolini, Silvia; Bottino, C; Falco, M; Augugliaro, R; Giliani, Silvia Clara; Franceschini, R; Ochs, Hd; Wolf, H; Bonnefoy, Jy; Biassoni, R; Moretta, L; Notarangelo, Luigi Daniele; Moretta, A. | |
| Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression | 1-gen-2001 | Allavena, Paola; Badolato, Raffaele; Facchetti, Fabio; Vermi, William; Paganin, C; Luini, W; Giliani, Silvia Clara; Mazza, Cinzia; Bolzern, U; Chiesa, I; Notarangelo, Luigi Daniele; Mantovani, Alberto; Sozzani, Silvano | |
| Mutations of CD40 gene cause a novel autosomal recessive form of hyper IgM (HIGM3). | 1-gen-2001 | Giliani, Silvia Clara; Insalaco, A; Alghonaium, A; Soresina, Ar; Loubser, M; Avanzini, Ma; Marconi, M; Badolato, Raffaele; Ugazio, Ag; Levy, Y; Catalan, N; Durandy, A; Tbakhi, A; Notarangelo, Luigi Daniele; Plebani, Alessandro; Ferrari, S | |
| Primary immunodeficiency mutation databases | 1-gen-2001 | Vihinen, M; Arredondovega, Fx; Casanova, Jl; Etzioni, A; Giliani, Silvia Clara; Hammarstrom, L; Hershfield, Ms; Heyworth, Pg; Hsu, Ap; Lahdesmaki, A; Lappalainen, I; Notarangelo, Ld; Puck, Jm; Reith, W; Roos, D; Schumacher, Rf; Schwarz, K; Vezzoni, P; Villa, A; Valiaho, J; Smith, C. I. |
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