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Xeroderma pigmentosum complementation group H falls into complementation group D 1-gen-1991 Vermeulen, W.; Stefanini, M.; Giliani, S.; Hoeijmakers, J. H. J.; Bootsma, D.
DNA repair investigations in nine Italian patients affected by trichothiodystrophy 1-gen-1992 Stefanini, M.; Giliani, S.; Nardo, T.; Marinoni, S.; Nazzaro, V.; Rizzo, R.; Trevisan, G.
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy 1-gen-1993 Stefanini, M.; Vermeulen, W.; Weeda, G.; Giliani, S.; Nardo, T.; Mezzina, M.; Sarasin, A.; Harper, J. I.; Arlett, C. F.; Hoeijmakers, J. H. J.; Lehmann, A. R.
Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome 1-gen-1993 D Notarangelo, L; Mantuano, E; Bione, S; Gimbo, E; Giliani, S; Caraffini, A; Purtilo, D; Farr, C; G Ugazio, A; Toniolo, D
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy 1-gen-1993 Stefanini, M.; Lagomarsini, P.; Giliani, S.; Nardo, T.; Botta, E.; Peserico, A.; Kleijer, W. J.; Lehmann, A. R.; Sarasin, A.
Application of Molecular Analysis to Genetic Counseling in the Wiskott-Aldrich Syndrome (WAS) 1-gen-1993 Notarangelo, L. D.; Candotti, F.; Parolini, O.; Mantuano, E.; Giliani, S.; Lanfranchi, A.; Albertini, A.
Analysis of X-chromosome inactivation in bone marrow precursors from carriers of Wiskott-Aldrich syndrome and X-linked severe combined immunodeficiency: Evidence that the Wiskott-Aldrich gene is expressed prior to granulocyte-macrophage colony-forming-unit 1-gen-1993 Mantuano 1, E; Candotti, F; Giliani, S; Parolini, O; Lusardi, M; Zucchi, M; Lanfranchi, A; Porta, F; Airò, P; Albertini, A; Et, Al.
Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D 1-gen-1994 Mondello, C.; Nardo, T.; Giliani, S.; Arrand, J. E.; Weber, C. A.; Lehmann, A. R.; Nuzzo, F.; Stefanini, M.
Ineffective expression of CD40L on cord blood T cells may contribute to poor immunoglobulin production in the newborn. 1-gen-1994 Brugnoni, D.; Airò, P.; Graf, D.; Marconi, M.; Lebowitz, M.; Plebani, Alessandro; Giliani, Silvia Clara; Malacarne, F.; Cattaneo, R.; Ugazio, A. G.; Albertini, A.; Kroczek, R. A.; Notarangelo, Luigi Daniele
C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by Hyper IgM syndrome 1-gen-1994 Villa, A.; Strina, D.; Macchi, P.; Patrosso, M. C.; Vezzoni, P.; Tovo, P. A.; Giliani, S.; Ugazio, A. G.; Notarangelo, L. D.
Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn. 1-gen-1994 Brugnoni, D; Airo, P; Graf, D; Marconi, M; Lebowitz, M; Plebani, A; Giliani, Silvia Clara; Malacarne, F; Cattaneo, R; Ugazio, Ag
Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)". 1-gen-1994 Kroczek, Ra; Graf, D; Brugnoni, D; Giliani, Silvia Clara; Korthuer, U; Ugazio, A; Senger, G; Mages, Hw; Villa, A; Notarangelo, L. D.
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. 1-gen-1994 Villa, A; Notarangelo, Ld; DI SANTO, Jp; Macchi, Pp; Strina, D; Frattini, A; Lucchini, F; Patrosso, Cm; Giliani, Silvia Clara; Mantuano, E.
The genomic organization of the human transcription factor 3 (TFE3) gene. 1-gen-1995 Macchi, P; Notarangelo, L; Giliani, Silvia Clara; Strina, D; Repetto, M; Sacco, Mg; Vezzoni, P; Villa, A.
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. 1-gen-1995 Macchi, P; Villa, A; Strina, D; Sacco, Mg; Morali, F; Brugnoni, D; Giliani, Silvia Clara; Mantuano, E; Fasth, A; Andersson, B.
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). 1-gen-1995 Macchi, P; Villa, A; Giliani, Silvia Clara; Sacco, Mg; Frattini, A; Porta, F; Ugazio, Alberto Giovanni; Johnston, J; Candotti, F; O'Shea, J; Vezzoni, P; Notarangelo, Luigi Daniele
Mutation analysis in Wiskott Aldrich syndrome on chorionic villus DNA 1-gen-1995 Wengler, Gs; Notarangelo, Ld; Giliani, Silvia Clara; Pirastru, Mg; Ugazio, Ag; Parolini, O.
In-utero transplantation of parental CD34 haematopoietic progenitor celsin a patient ith x-linked severe combined immunodeficiency 1-gen-1996 Wengler, Gs; Lanfranchi, A; Frusca, Tiziana; Verardi, R; Neva, A; Brugnoni, D; Giliani, Silvia Clara; Fiorini, M; Mella, P; Guandalini, F; Mazzolari, E; Pecorelli, Sergio; Notarangelo, Luigi Daniele; Porta, F; Ugazio, Alberto Giovanni
Severe combined immune deficiency due to defects of the JAK3 tyrosine kinase 1-gen-1996 L. D., Notarangelo; A., Villa; F., Candotti; Giliani, Silvia Clara; P., Mella; D., Brugnoni; P., Macchi; Badolato, Raffaele; R. F., Schumacher; E., Mazzolari; M., Pennacchio; F., Porta; A. G., Ugazio; J. J., Oshea; P., Vezzoni
CD40Lbase: A database of CD40L gene mutations causing X-linked hyper-IgM syndrome 1-gen-1996 Notarangelo, L. D.; Peitsch, M. C.; Abrahamsen, T. G.; Bachelot, C.; Bordigoni, P.; Cant, A. J.; Chapel, H.; Clementi, M.; Deacock, S.; De Saint Basile, G.; Duse, M.; Espanol, T.; Etzioni, A.; Fasth, A.; Fischer, A.; Giliani, S.; Gomez, L.; Hammarstrom, L.; Jones, A.; Kanariou, M.; Kinnon, C.; Klemola, T.; Kroczek, R. A.; Levy, J.; Matamoros, N.; Monafo, V.; Paolucci, P.; Reznick, I.; Sanal, O.; Smith, C. I. E.; Thompson, R. A.; Tovo, P.; Villa, A.; Vihinen, M.; Vossen, J.; Zegers, B. J. M.; Ochs, H. D.; Conley, M. E.; Iseki, M.; Ramesh, N.; Shimadzu, M.; Saiki, O.
Mostrati risultati da 1 a 20 di 207
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