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Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations.
Ercolino T, Becherini L, Valeri A, Maiello M, Gaglianò MS, Parenti G, Ramazzotti M, Piscitelli E, Simi L, Pinzani P, Nesi G, Degl'Innocenti D, Console N, Bergamini C, Mannelli M. Ercolino T, et al. Clin Endocrinol (Oxf). 2008 May;68(5):762-8. doi: 10.1111/j.1365-2265.2007.03131.x. Epub 2007 Nov 19. Clin Endocrinol (Oxf). 2008. PMID: 18031321
SDH mutations in patients affected by paraganglioma syndromes: a personal experience.
Mannelli M, Simi L, Ercolino T, Gaglianò MS, Becherini L, Vinci S, Sestini R, Gensini F, Pinzani P, Mascalchi M, Guerrini L, Pratesi C, Nesi G, Torti F, Cipollini F, Bernini GP, Genuardi M. Mannelli M, et al. Among authors: ercolino t. Ann N Y Acad Sci. 2006 Aug;1073:183-9. doi: 10.1196/annals.1353.019. Ann N Y Acad Sci. 2006. PMID: 17102085
Genetics and biology of pheochromocytoma.
Mannelli M, Simi L, Gaglianò MS, Opocher G, Ercolino T, Becherini L, Parenti G. Mannelli M, et al. Among authors: ercolino t. Exp Clin Endocrinol Diabetes. 2007 Mar;115(3):160-5. doi: 10.1055/s-2007-970407. Exp Clin Endocrinol Diabetes. 2007. PMID: 17427103 Review.
The Y606C RET mutation causes a receptor gain of function.
Ercolino T, Lombardi A, Becherini L, Piscitelli E, Cantini G, Gaglianò MS, Serio M, Luconi M, Mannelli M. Ercolino T, et al. Clin Endocrinol (Oxf). 2008 Aug;69(2):253-8. doi: 10.1111/j.1365-2265.2008.03197.x. Epub 2008 Jan 31. Clin Endocrinol (Oxf). 2008. PMID: 18248647
Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.
Mannelli M, Castellano M, Schiavi F, Filetti S, Giacchè M, Mori L, Pignataro V, Bernini G, Giachè V, Bacca A, Biondi B, Corona G, Di Trapani G, Grossrubatscher E, Reimondo G, Arnaldi G, Giacchetti G, Veglio F, Loli P, Colao A, Ambrosio MR, Terzolo M, Letizia C, Ercolino T, Opocher G; Italian Pheochromocytoma/Paraganglioma Network. Mannelli M, et al. Among authors: ercolino t. J Clin Endocrinol Metab. 2009 May;94(5):1541-7. doi: 10.1210/jc.2008-2419. Epub 2009 Feb 17. J Clin Endocrinol Metab. 2009. PMID: 19223516 Free article.
66 results