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WHIM SYNDROME: CLINICAL AND GENETIC DIAGNOSIS
2010-01-01 Autori: L., Tassone; L., Dotta; L. D., Notarangelo; G., Savoldi; Plebani, Alessandro; F., Porta; Badolato, Raffaele
X linked susceptibility to Mycobapteria is caused by mutation in NEMO impairing CD40-dependent IL-12production.
2006-01-01 Santos, Of; Bustamante, J; Haverkamp, M; Vinolo, E; Ku, Cl; Puel, A; Frucht, D; Christel, K; VON BERNUTH, H; Jouanguy, E; Feinberg, J; Durandy, A; Senechal, B; Chapgier, A; Vogt, G; DE BEAUCODREY, L; Fieschi, C; Picard, C; Garfa, M; Chemli, J; Bejaoui, M; Tsolia, Mn; Kutukculer, N; Plebani, Alessandro; Notarangelo, L; Bodemer, C; Geissmann, F; Israel, A; Veron, M; Knackstedt, M; Barbouche, R; Abel, L; Magdorf, K; Gendrel, D; Agou, F; Holland, Sm; Casanova, Jl
X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase in patients with X-linked agammaglobulinemia.
2000-01-01 Moschese, V; Orlandi, P; Plebani, Alessandro; Arvanitidis, K; Fiorini, M; Speletas, M; MELLA P., RITIS K; Sideras, P; Rossi, P.
X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world
2019-01-01 El-Sayed, Z. A.; Abramova, I.; Aldave, J. C.; Al-Herz, W.; Bezrodnik, L.; Boukari, R.; Bousfiha, A. A.; Cancrini, C.; Condino-Neto, A.; Dbaibo, G.; Derfalvi, B.; Dogu, F.; Edgar, J. D. M.; Eley, B.; El-Owaidy, R. H.; Espinosa-Padilla, S. E.; Galal, N.; Haerynck, F.; Hanna-Wakim, R.; Hossny, E.; Ikinciogullari, A.; Kamal, E.; Kanegane, H.; Kechout, N.; Lau, Y. L.; Morio, T.; Moschese, V.; Neves, J. F.; Ouederni, M.; Paganelli, R.; Paris, K.; Pignata, C.; Plebani, A.; Qamar, F. N.; Qureshi, S.; Radhakrishnan, N.; Rezaei, N.; Rosario, N.; Routes, J.; Sanchez, B.; Sediva, A.; Seppanen, M. R.; Serrano, E. G.; Shcherbina, A.; Singh, S.; Siniah, S.; Spadaro, G.; Tang, M.; Vinet, A. M.; Volokha, A.; Sullivan, K. E.
X-linked agammaglobulinemia, growth hormone deficiency and delay of growth and puberty.
1994-01-01 Buzi, F.; Notarangelo, Luigi Daniele; Plebani, Alessandro; Duse, Marzia; Parolini, O.; Monteleone, M.; Ugazio, Alberto Giovanni
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
2011-01-01 Booth, C; Gilmour, Kc; Veys, P; Gennery, Ar; Slatter, Ma; Chapel, H; Heath, Pt; Steward, Cg; Smith, O; O'Meara, A; Kerrigan, H; Mahlaoui, N; Cavazzana Calvo, M; Fischer, A; Moshous, D; Blanche, S; Pachlopnick Schmid, J; Latour, S; de Saint Basile, G; Albert, M; Notheis, G; Rieber, N; Strahm, B; Ritterbusch, H; Lankester, A; Hartwig, Ng; Meyts, I; Plebani, Alessandro; Soresina, A; Finocchi, A; Pignata, C; Cirillo, E; Bonanomi, S; Peters, C; Kalwak, K; Pasic, S; Sedlacek, P; Jazbec, J; Kanegane, H; Nichols, Ke; Hanson, Ic; Kapoor, N; Haddad, E; Cowan, M; Choo, S; Smart, J; Arkwright, Pd; Gaspar, Hb
“Maturazione della risposta anticorpale: dal repertorio anticorpale primario a quello secondario”.
2003-01-01 Notarangelo, Luigi Daniele; A. V., Gulino; Plebani, Alessandro; C., Forino; D'Ippolito, Carmelita
• Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
2008-01-01 Salzer, U; Bacchelli, C; Buckridge, S; PAN HAMMARSTROM, Q; Jennings, S; Lougaris, Vassilios; Bergbreiter, A; Hagena, T; Birmelin, J; Plebani, A; Webster, Ad; Peter, Hh; Suez, D; Chapel, H; MCLEAN TOOKE, A; Spickett, Gp; ANOVER SOMBKE, S; Ochs, Hd; Urschel, S; Belohradsky, Bh; Ugrinovic, S; Kumararatne, Ds; Lawrence, Tc; Holm, Am; Franco, Jl; Schulze, I; Schneider, P; Gertz, Em; Schaffer, Aa; Hammarstrom, L; Thrasher, Aj; Gaspar, Hb; Grimbacher, B.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| WHIM SYNDROME: CLINICAL AND GENETIC DIAGNOSIS | 1-gen-2010 | Autori: L., Tassone; L., Dotta; L. D., Notarangelo; G., Savoldi; Plebani, Alessandro; F., Porta; Badolato, Raffaele | |
| X linked susceptibility to Mycobapteria is caused by mutation in NEMO impairing CD40-dependent IL-12production. | 1-gen-2006 | Santos, Of; Bustamante, J; Haverkamp, M; Vinolo, E; Ku, Cl; Puel, A; Frucht, D; Christel, K; VON BERNUTH, H; Jouanguy, E; Feinberg, J; Durandy, A; Senechal, B; Chapgier, A; Vogt, G; DE BEAUCODREY, L; Fieschi, C; Picard, C; Garfa, M; Chemli, J; Bejaoui, M; Tsolia, Mn; Kutukculer, N; Plebani, Alessandro; Notarangelo, L; Bodemer, C; Geissmann, F; Israel, A; Veron, M; Knackstedt, M; Barbouche, R; Abel, L; Magdorf, K; Gendrel, D; Agou, F; Holland, Sm; Casanova, Jl | |
| X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase in patients with X-linked agammaglobulinemia. | 1-gen-2000 | Moschese, V; Orlandi, P; Plebani, Alessandro; Arvanitidis, K; Fiorini, M; Speletas, M; MELLA P., RITIS K; Sideras, P; Rossi, P. | |
| X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world | 1-gen-2019 | El-Sayed, Z. A.; Abramova, I.; Aldave, J. C.; Al-Herz, W.; Bezrodnik, L.; Boukari, R.; Bousfiha, A. A.; Cancrini, C.; Condino-Neto, A.; Dbaibo, G.; Derfalvi, B.; Dogu, F.; Edgar, J. D. M.; Eley, B.; El-Owaidy, R. H.; Espinosa-Padilla, S. E.; Galal, N.; Haerynck, F.; Hanna-Wakim, R.; Hossny, E.; Ikinciogullari, A.; Kamal, E.; Kanegane, H.; Kechout, N.; Lau, Y. L.; Morio, T.; Moschese, V.; Neves, J. F.; Ouederni, M.; Paganelli, R.; Paris, K.; Pignata, C.; Plebani, A.; Qamar, F. N.; Qureshi, S.; Radhakrishnan, N.; Rezaei, N.; Rosario, N.; Routes, J.; Sanchez, B.; Sediva, A.; Seppanen, M. R.; Serrano, E. G.; Shcherbina, A.; Singh, S.; Siniah, S.; Spadaro, G.; Tang, M.; Vinet, A. M.; Volokha, A.; Sullivan, K. E. | |
| X-linked agammaglobulinemia, growth hormone deficiency and delay of growth and puberty. | 1-gen-1994 | Buzi, F.; Notarangelo, Luigi Daniele; Plebani, Alessandro; Duse, Marzia; Parolini, O.; Monteleone, M.; Ugazio, Alberto Giovanni | |
| X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. | 1-gen-2011 | Booth, C; Gilmour, Kc; Veys, P; Gennery, Ar; Slatter, Ma; Chapel, H; Heath, Pt; Steward, Cg; Smith, O; O'Meara, A; Kerrigan, H; Mahlaoui, N; Cavazzana Calvo, M; Fischer, A; Moshous, D; Blanche, S; Pachlopnick Schmid, J; Latour, S; de Saint Basile, G; Albert, M; Notheis, G; Rieber, N; Strahm, B; Ritterbusch, H; Lankester, A; Hartwig, Ng; Meyts, I; Plebani, Alessandro; Soresina, A; Finocchi, A; Pignata, C; Cirillo, E; Bonanomi, S; Peters, C; Kalwak, K; Pasic, S; Sedlacek, P; Jazbec, J; Kanegane, H; Nichols, Ke; Hanson, Ic; Kapoor, N; Haddad, E; Cowan, M; Choo, S; Smart, J; Arkwright, Pd; Gaspar, Hb | |
| “Maturazione della risposta anticorpale: dal repertorio anticorpale primario a quello secondario”. | 1-gen-2003 | Notarangelo, Luigi Daniele; A. V., Gulino; Plebani, Alessandro; C., Forino; D'Ippolito, Carmelita | |
| • Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. | 1-gen-2008 | Salzer, U; Bacchelli, C; Buckridge, S; PAN HAMMARSTROM, Q; Jennings, S; Lougaris, Vassilios; Bergbreiter, A; Hagena, T; Birmelin, J; Plebani, A; Webster, Ad; Peter, Hh; Suez, D; Chapel, H; MCLEAN TOOKE, A; Spickett, Gp; ANOVER SOMBKE, S; Ochs, Hd; Urschel, S; Belohradsky, Bh; Ugrinovic, S; Kumararatne, Ds; Lawrence, Tc; Holm, Am; Franco, Jl; Schulze, I; Schneider, P; Gertz, Em; Schaffer, Aa; Hammarstrom, L; Thrasher, Aj; Gaspar, Hb; Grimbacher, B. |
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Opzioni
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Tipologia
- 1 Contributo su Rivista 338
- 1 Contributo su Rivista::1.1 Arti... 322
- 1 Contributo su Rivista::1.5 Abst... 16
Data di pubblicazione
- 2020 - 2024 31
- 2010 - 2019 130
- 2000 - 2009 102
- 1990 - 1999 44
- 1980 - 1989 28
- 1978 - 1979 3
Editore
- Elsevier Science Incorporated / N... 8
- American Association of Immunolog... 5
- American Society of Hematology:19... 5
- Lippincott, Williams & Wilkins:53... 5
- Cell Press:1100 Massachusetts Ave... 4
- Springer Verlag Germany:Tiergarte... 4
- Mosby Year Book Incorporated:6277... 3
- Ospedaletto : Pacini Editore 3
- Plenum Press:Book Customer Servic... 3
- American Society for Clinical Inv... 2
Rivista
- CLINICAL IMMUNOLOGY 37
- JOURNAL OF CLINICAL IMMUNOLOGY 25
- JOURNAL OF ALLERGY AND CLINICAL I... 21
- BLOOD 14
- JOURNAL OF IMMUNOLOGY 10
- CLINICAL AND EXPERIMENTAL IMMUNOLOGY 8
- FRONTIERS IN IMMUNOLOGY 6
- EUROPEAN JOURNAL OF PEDIATRICS 5
- JOURNAL OF ALLERGY AND CLINICAL I... 5
- THE ITALIAN JOURNAL OF PEDIATRICS 5
Keyword
- Immunology 23
- Immunology and Allergy 23
- common variable immunodeficiency 17
- Humans 13
- B cells 10
- agammaglobulinemia 9
- Male 9
- Child 8
- Female 7
- immunodeficiency 7
Lingua
- eng 327
- ita 3
- fre 1
Accesso al fulltext
- no fulltext 313
- open 10
- reserved 8
- restricted 7