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Page 1
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.
Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, Lanza V, Söderkvist P, Stenman A, Larsson C, Svahn F, Chen JL, Marquard J, Fraenkel M, Walter MA, Peczkowska M, Prejbisz A, Jarzab B, Hasse-Lazar K, Petersenn S, Moeller LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay Ö, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH; European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group. Bausch B, et al. Among authors: taschin e. JAMA Oncol. 2017 Sep 1;3(9):1204-1212. doi: 10.1001/jamaoncol.2017.0223. JAMA Oncol. 2017. PMID: 28384794 Free PMC article.
Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.
Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL. Yao L, et al. Among authors: taschin e. JAMA. 2010 Dec 15;304(23):2611-9. doi: 10.1001/jama.2010.1830. JAMA. 2010. PMID: 21156949 Free 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: taschin e. Nat Genet. 2011 Jun 19;43(7):663-7. doi: 10.1038/ng.861. Nat Genet. 2011. PMID: 21685915
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: taschin e. 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
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: taschin e. 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
A registry-based study of thyroid paraganglioma: histological and genetic characteristics.
von Dobschuetz E, Leijon H, Schalin-Jäntti C, Schiavi F, Brauckhoff M, Peczkowska M, Spiazzi G, Demattè S, Cecchini ME, Sartorato P, Krajewska J, Hasse-Lazar K, Roszkowska-Purska K, Taschin E, Malinoc A, Akslen LA, Arola J, Lange D, Fassina A, Pennelli G, Barbareschi M, Luettges J, Prejbisz A, Januszewicz A, Strate T, Bausch B, Castinetti F, Jarzab B, Opocher G, Eng C, Neumann HP. von Dobschuetz E, et al. Among authors: taschin e. Endocr Relat Cancer. 2015 Apr;22(2):191-204. doi: 10.1530/ERC-14-0558. Epub 2015 Jan 16. Endocr Relat Cancer. 2015. PMID: 25595276
Von Hippel-Lindau disease: an evaluation of natural history and functional disability.
Feletti A, Anglani M, Scarpa B, Schiavi F, Boaretto F, Zovato S, Taschin E, Gardi M, Zanoletti E, Piermarocchi S, Murgia A, Pavesi G, Opocher G. Feletti A, et al. Among authors: taschin e. Neuro Oncol. 2016 Jul;18(7):1011-20. doi: 10.1093/neuonc/nov313. Epub 2016 Jan 12. Neuro Oncol. 2016. PMID: 26763786 Free PMC article.
A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype.
Albiger NM, Regazzo D, Rubin B, Ferrara AM, Rizzati S, Taschin E, Ceccato F, Arnaldi G, Pecori Giraldi F, Stigliano A, Cerquetti L, Grimaldi F, De Menis E, Boscaro M, Iacobone M, Occhi G, Scaroni C. Albiger NM, et al. Among authors: taschin e. Endocrine. 2017 Mar;55(3):959-968. doi: 10.1007/s12020-016-0956-z. Epub 2016 Apr 19. Endocrine. 2017. PMID: 27094308
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