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A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype.
Occhi G, Regazzo D, Trivellin G, Boaretto F, Ciato D, Bobisse S, Ferasin S, Cetani F, Pardi E, Korbonits M, Pellegata NS, Sidarovich V, Quattrone A, Opocher G, Mantero F, Scaroni C. Occhi G, et al. Among authors: bobisse s. PLoS Genet. 2013 Mar;9(3):e1003350. doi: 10.1371/journal.pgen.1003350. Epub 2013 Mar 21. PLoS Genet. 2013. PMID: 23555276 Free PMC article.
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gómez-Graña A, de Cubas AA, Inglada-Pérez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernández-Lavado R, Díaz JA, Gómez-Morales M, González-Neira A, Roncador G, Rodríguez-Antona C, Benítez J, Mannelli M, Opocher G, Robledo M, Cascón A. Comino-Méndez I, et al. Among authors: bobisse s. Nat Genet. 2011 Jun 19;43(7):663-7. doi: 10.1038/ng.861. Nat Genet. 2011. PMID: 21685915
The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.
Schiavi F, Demattè S, Cecchini ME, Taschin E, Bobisse S, Del Piano A, Donner D, Barbareschi M, Manera V, Zovato S, Erlic Z, Savvoukidis T, Barollo S, Grego F, Trabalzini F, Amistà P, Grandi C, Branz F, Marroni F, Neumann HP, Opocher G. Schiavi F, et al. Among authors: bobisse s. J Clin Endocrinol Metab. 2012 Apr;97(4):E637-41. doi: 10.1210/jc.2011-2597. Epub 2012 Mar 28. J Clin Endocrinol Metab. 2012. PMID: 22456618
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M. Burnichon N, et al. Among authors: bobisse s. Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27. Clin Cancer Res. 2012. PMID: 22452945
Functional avidity-driven activation-induced cell death shapes CTL immunodominance.
Dalla Santa S, Merlo A, Bobisse S, Ronconi E, Boldrin D, Milan G, Barbieri V, Marin O, Facchinetti A, Biasi G, Dolcetti R, Zanovello P, Rosato A. Dalla Santa S, et al. Among authors: bobisse s. J Immunol. 2014 Nov 1;193(9):4704-11. doi: 10.4049/jimmunol.1303203. Epub 2014 Sep 22. J Immunol. 2014. PMID: 25246498
39 results