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Results: 1-8 |
Results: 8
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
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 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
The "New Italy" in the correspondence of Jessie White Mario (1866-1906))
Authors: Bozzi, F
Citation: F. Bozzi, The "New Italy" in the correspondence of Jessie White Mario (1866-1906)), RISORGIMENT, 52(3), 2000, pp. 607-610
N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains
Authors: Santagata, S Gomez, CA Sobacchi, C Bozzi, F Abinun, M Pasic, S Cortes, P Vezzoni, P Villa, A
Citation: S. Santagata et al., N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains, P NAS US, 97(26), 2000, pp. 14572-14577
The RAG1/RAG2 complex constitutes a 3 ' flap endonuclease: Implications for junctional diversity in V(D)J and transpositional recombination
Authors: Santagata, S Besmer, E Villa, A Bozzi, F Allingham, JS Sobacchi, C Haniford, DB Vezzoni, P Nussenzweig, MC Pan, ZQ Cortes, P
Citation: S. Santagata et al., The RAG1/RAG2 complex constitutes a 3 ' flap endonuclease: Implications for junctional diversity in V(D)J and transpositional recombination, MOL CELL, 4(6), 1999, pp. 935-947
Omenn syndrome: A disorder of Rag1 and Rag2 genes
Authors: Villa, A Santagata, S Bozzi, F Imberti, L Notarangelo, LD
Citation: A. Villa et al., Omenn syndrome: A disorder of Rag1 and Rag2 genes, J CLIN IMM, 19(2), 1999, pp. 87-97
Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome
Authors: Signorini, S Imberti, L Pirovano, S Villa, A Facchetti, F Ungari, M Bozzi, F Albertini, A Ugazio, AG Vezzoni, P Notarangelo, LD
Citation: S. Signorini et al., Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome, BLOOD, 94(10), 1999, pp. 3468-3478
Risultati: 1-8 |