المؤلفون: McDonnell, J, Cousins, K, Younger, MEM, Lane, A, Abolhassani, H, Abraham, RS, Al-Tamemi, S, Aldave-Becerra, JC, Al-Faris, EH, Alfaro-Murillo, A, Alkhater, SA, Alsaati, N, Doss, AMA, Anderson, M, Angarola, E, Ariue, B, Arnold, DE, Assa'ad, AH, Aytekin, C, Bank, M, Bergerson, JRE, Bleesing, J, Boesing, J, Bouso, C, Brodszki, N, Cabanillas, D, Cady, C, Callahan, MA, Caorsi, R, Carbone, J, Carrabba, M, Castagnoli, R, Catanzaro, JR, Chan, SMT, Chandra, S, Chapdelaine, H, Chavoshzadeh, Z, Chong, HJ, Connors, L, Consonni, F, Correa-Jimenez, O, Cunningham-Rundles, C, D'Astous-Gauthier, K, Delmonte, OM, Demirdag, YY, Deshpande, DR, Diaz-Cabrera, NM, Dimitriades, VR, El-Owaidy, R, Elghazali, G, Al-Hammadi, S, Fabio, G, Faure, AS, Feng, J, Fernandez, JM, Fill, L, Franco, GR, Frenck, RW, Fuleihan, RL, Giardino, G, Galant-Swafford, J, Gambineri, E, Garabedian, EK, Geerlinks, AV, Goudouris, E, Grecco, O, Pan-Hammarstrom, Q, Khani, HHK, Hammarstrom, L, Hartog, NL, Heimall, J, Hernandez-Molina, G, Horner, CC, Hostoffer, RW, Hristova, N, Hsiao, KC, Ivankovich-Escoto, G, Jaber, F, Jalil, M, Jamee, M, Jean, T, Jeong, S, Jhaveri, D, Jordan, MB, Joshi, AY, Kalkat, A, Kanarek, HJ, Kellner, ES, Khojah, A, Khoury, R, Kokron, CM, Kumar, A, Lecerf, K, Lehman, HK, Leiding, JW, Lesmana, H, Lim, XR, Lopes, JP, Lopez, AL, Tarquini, L, Lundgren, IS, Magnusson, J, Marinho, AKBB, Marseglia, GL, Martone, GM, Mechtler, AG, Mendonca, L, Milner, JD, Mustillo, PJ, Naderi, AG, Naviglio, S, Nell, J, Niebur, HB, Notarangelo, L, Oleastro, M, Ortega-Lopez, MC, Patel, NR, Petrovic, G, Pignata, C, Porras, O, Prince, BT, Puck, JM, Qamar, N, Rabusin, M, Raje, N, Regairaz, L, Risma, KA, Ristagno, EH, Routes, J, Roxo-Junior, P, Salemi, N, Scalchunes, C, Schuval, SJ, Seneviratne, SL, Shankar, A, Sherkat, R, Shin, JJ, Siddiqi, A, Signa, S, Sobh, A, Lima, FMS, Stenehjem, KK, Tam, JS, Tang, MNC, Barros, MT, Verbsky, J, Vergadi, E, Voelker, DH, Volpi, S, Wall, LA, Wang, C, Williams, KW, Wu, EY, Wu, SS, Zhou, JJ, Cook, A, Sullivan, KE, Marsh, R

المصدر: Journal of clinical immunology. 44(4):86

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:155478986Test

المؤلفون: Ombrello, MJ, Arthur, VL, Remmers, EF, Hinks, A, Tachmazidou, I, Grom, AA, Foell, D, Martini, A, Gattorno, M, Ozen, S, Prahalad, S, Zeft, AS, Bohnsack, JF, Ilowite, NT, Mellins, ED, Russo, R, Len, C, Hilario, MOE, Oliveira, S, Yeung, RSM, Rosenberg, AM, Wedderburn, LR, Anton, J, Haas, JP, Rosen-Wolff, A, Minden, K, Tenbrock, K, Demirkaya, E, Cobb, J, Baskin, E, Signa, S, Shuldiner, E, Duerr, RH, Achkar, JP, Kamboh, MI, Kaufman, KM, Kottyan, LC, Pinto, D, Scherer, SW, Alarcon-Riquelme, ME, Docampo, E, Estivill, X, Gul, A, Langefeld, CD, Thompson, S, Zeggini, E, Kastner, DL, Woo, P, Thomson, W

المصدر: Annals of the rheumatic diseases. 76(5):906-913

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:135467661Test

المؤلفون: Drago, E., Garbarino, F., Signa, S., Grossi, A., Schena, F., Penco, F., Santori, E., Candotti, F., Boztug, K., Volpi, S., Gattorno, M., Caorsi, R.

المصدر: Frontiers in immunology, vol. 13, pp. 937108

مصطلحات موضوعية: Adenosine Deaminase/genetics, Agammaglobulinemia, Female, Humans, Immunoglobulins, Intravenous/therapeutic use, Immunologic Deficiency Syndromes, Inflammation, Intercellular Signaling Peptides and Proteins, Lymphohistiocytosis, Hemophagocytic/diagnosis, Hemophagocytic/drug therapy, Hemophagocytic/etiology, Measles Vaccine, Polyarteritis Nodosa, Severe Combined Immunodeficiency, Tumor Necrosis Factor Inhibitors, Virus Diseases, dada2, hemophagocitic lymphohistiocytosis, immunoglobulin, therapy, viral infection

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36159847; info:eu-repo/semantics/altIdentifier/eissn/1664-3224; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E9D9D3B88DB98; https://serval.unil.ch/notice/serval:BIB_E9D9D3B88DB9Test; urn:issn:1664-3224; https://serval.unil.ch/resource/serval:BIB_E9D9D3B88DB9.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E9D9D3B88DB98Test

الإتاحة: https://doi.org/10.3389/fimmu.2022.937108Test
https://serval.unil.ch/notice/serval:BIB_E9D9D3B88DB9Test
https://serval.unil.ch/resource/serval:BIB_E9D9D3B88DB9.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E9D9D3B88DB98Test

المؤلفون: Bertelli R., Schena F., Antonini F., Reverberi D., Signa S., Pedemonte N., Consolaro A., Gattorno M., Negrini S., Pupo F., Volpi S., Ghiggeri G. M.

المساهمون: Bertelli, R., Schena, F., Antonini, F., Reverberi, D., Signa, S., Pedemonte, N., Consolaro, A., Gattorno, M., Negrini, S., Pupo, F., Volpi, S., Ghiggeri, G. M.

مصطلحات موضوعية: autoimmunity, IgG2, lupus nephriti, naïve B cell, NETosi, T-bet

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33912575; info:eu-repo/semantics/altIdentifier/wos/WOS:000643696700001; volume:8; firstpage:1; lastpage:10; numberofpages:10; journal:FRONTIERS IN MEDICINE; https://hdl.handle.net/11567/1055498Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105007413

الإتاحة: https://doi.org/10.3389/fmed.2021.635436Test
https://hdl.handle.net/11567/1055498Test

المؤلفون: Lougaris V., Soresina A., Baronio M., Montin D., Martino S., Signa S., Volpi S., Zecca M., Marinoni M., Baselli L. A., Dellepiane R. M., Carrabba M., Fabio G., Putti M. C., Cinetto F., Lunardi C., Gazzurelli L., Benvenuto A., Bertolini P., Conti F., Consolini R., Ricci S., Azzari C., Leonardi L., Duse M., Pulvirenti F., Milito C., Quinti I., Cancrini C., Finocchi A., Moschese V., Cirillo E., Crescenzi L., Spadaro G., Marasco C., Vacca A., Cardinale F., Martire B., Trizzino A., Licciardello M., Cossu F., Di Matteo G., Badolato R., Ferrari S., Giliani S., Pession A., Ugazio A., Pignata C., Plebani A.

المساهمون: Lougaris, V., Soresina, A., Baronio, M., Montin, D., Martino, S., Signa, S., Volpi, S., Zecca, M., Marinoni, M., Baselli, L. A., Dellepiane, R. M., Carrabba, M., Fabio, G., Putti, M. C., Cinetto, F., Lunardi, C., Gazzurelli, L., Benvenuto, A., Bertolini, P., Conti, F., Consolini, R., Ricci, S., Azzari, C., Leonardi, L., Duse, M., Pulvirenti, F., Milito, C., Quinti, I., Cancrini, C., Finocchi, A., Moschese, V., Cirillo, E., Crescenzi, L., Spadaro, G., Marasco, C., Vacca, A., Cardinale, F., Martire, B., Trizzino, A., Licciardello, M., Cossu, F., Di Matteo, G., Badolato, R., Ferrari, S., Giliani, S., Pession, A., Ugazio, A., Pignata, C., Plebani, A.

مصطلحات موضوعية: bruton tyrosine kinase, chronic lung disease, X-linked agammaglobulinemia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32169379; info:eu-repo/semantics/altIdentifier/wos/WOS:000558835000032; volume:146; issue:2; firstpage:429; lastpage:437; numberofpages:9; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/11573/1402291Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082707318

الإتاحة: https://doi.org/10.1016/j.jaci.2020.03.001Test
http://hdl.handle.net/11573/1402291Test

المؤلفون: Bonora E., Chakrabarty S., Kellaris G., Tsutsumi M., Bianco F., Bergamini C., Ullah F., Isidori F., Liparulo I., Diquigiovanni C., Masin L., Rizzardi N., Cratere M. G., Boschetti E., Papa V., Maresca A., Cenacchi G., Casadio R., Martelli P., Matera I., Ceccherini I., Fato R., Raiola G., Arrigo S., Signa S., Sementa A. R., Severino M., Striano P., Fiorillo C., Goto T., Uchino S., Oyazato Y., Nakamura H., Mishra S. K., Yeh Y. -S., Kato T., Nozu K., Tanboon J., Morioka I., Nishino I., Toda T., Goto Y. -I., Ohtake A., Kosaki K., Yamaguchi Y., Nonaka I., Iijima K., Mimaki M., Kurahashi H., Raams A., Macinnes A., Alders M., Engelen M., Linthorst G., De Koning T., Den Dunnen W., Dijkstra G., Van Spaendonck K., Van Gent D. C., Aronica E. M., Picco P., Carelli V., Seri M., Katsanis N., Duijkers F. A. M., Taniguchi-Ikeda M., De Giorgio R.

المساهمون: E. Bonora, S. Chakrabarty, G. Kellari, M. Tsutsumi, F. Bianco, C. Bergamini, F. Ullah, F. Isidori, I. Liparulo, C. Diquigiovanni, L. Masin, N. Rizzardi, M.G. Cratere, E. Boschetti, V. Papa, A. Maresca, G. Cenacchi, R. Casadio, P. Martelli, I. Matera, I. Ceccherini, R. Fato, G. Raiola, S. Arrigo, S. Signa, A.R. Sementa, M. Severino, P. Striano, C. Fiorillo, T. Goto, S. Uchino, Y. Oyazato, H. Nakamura, S.K. Mishra, Y.-. Yeh, T. Kato, K. Nozu, J. Tanboon, I. Morioka, I. Nishino, T. Toda, Y.-. Goto, A. Ohtake, K. Kosaki, Y. Yamaguchi, I. Nonaka, K. Iijima, M. Mimaki, H. Kurahashi, A. Raam, A. Macinne, M. Alder, M. Engelen, G. Linthorst, T. De Koning, W. Den Dunnen, G. Dijkstra, K. Van Spaendonck, D.C. Van Gent, E.M. Aronica, P. Picco, V. Carelli, M. Seri, N. Katsani, F.A.M. Duijker, M. Taniguchi-Ikeda, R. De Giorgio

مصطلحات موضوعية: CIPO, LIG3, MNGIE, mtDNA repair, mtDNA replication, Animal, DNA Ligase ATP, Female, Gastrointestinal Disease, Gastrointestinal Motility, Human, Male, Mitochondrial Encephalomyopathie, Mutation, Pedigree, Poly-ADP-Ribose Binding Protein, Zebrafish, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33855352; info:eu-repo/semantics/altIdentifier/wos/WOS:000710927500031; volume:144; issue:5; firstpage:1451; lastpage:1466; numberofpages:16; journal:BRAIN; http://hdl.handle.net/2434/898474Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107848423

الإتاحة: https://doi.org/10.1093/brain/awab056Test
http://hdl.handle.net/2434/898474Test

المؤلفون: Signa, S., Caorsi, R., Stagnaro, G., Minoia, F., Picco, P., Ravelli, A., Damasio, M. B., Gattorno, M.

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, Immunology, Immunology and Allergy, Rheumatology

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/147488Test

الإتاحة: https://doi.org/10.1136/annrheumdis-2020-eular.2640Test
https://www.openaccessrepository.it/record/147488Test

المؤلفون: Signa, S., Sementa, A.R., Coccia, M.C., Pastorino, C., Viglizzo, G., Viola, S., Volpi, S., Occella, C., Bleidl, D., Acquila, M., Castagnola, E., Ravelli, A., Manunza, F.

المصدر: Journal of the European Academy of Dermatology and Venereology ; volume 35, issue 8 ; ISSN 0926-9959 1468-3083

الإتاحة: https://doi.org/10.1111/jdv.17283Test

المؤلفون: Signa S., Campione E., Rusmini M., Chiesa S., Grossi A., Omenetti A., Caorsi R., Viglizzo G. M., Galluzzo M., Bianchi L., Talamonti M., Orlandi A., Martini A., Ceccherini I., Gattorno M.

المساهمون: Signa, S, Campione, E, Rusmini, M, Chiesa, S, Grossi, A, Omenetti, A, Caorsi, R, Viglizzo, Gm, Galluzzo, M, Bianchi, L, Talamonti, M, Orlandi, A, Martini, A, Ceccherini, I, Gattorno, M

مصطلحات موضوعية: CARD14, Erythrodermic psoriasi, Ustekinumab, Whole exome sequencing, CARD Signaling Adaptor Protein, Child, Dermatitis, Exfoliative, Dermatologic Agent, Female, Gain of Function Mutation, Guanylate Cyclase, Heterozygote, Human, Male, Membrane Protein, Mutation, Missense, Pedigree, Psoriasi, Twins, Dizygotic, Settore MED/35 - MALATTIE CUTANEE E VENEREE, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31286971; info:eu-repo/semantics/altIdentifier/wos/WOS:000475560200003; volume:17; issue:1; firstpage:38; journal:PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL; http://hdl.handle.net/2108/240831Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068872491

الإتاحة: https://doi.org/10.1186/s12969-019-0336-3Test
http://hdl.handle.net/2108/240831Test

المؤلفون: Signa, S., Caorsi, R., Stagnaro, G., Minoia, F., Picco, P., Ravelli, A., Damasio, M. B., Gattorno, M.

المصدر: Annals of the Rheumatic Diseases ; volume 79, issue Suppl 1, page 182-183 ; ISSN 0003-4967 1468-2060

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, Immunology, Immunology and Allergy, Rheumatology

الإتاحة: https://doi.org/10.1136/annrheumdis-2020-eular.2640Test