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Page 1
Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.
Rostomyan L, Daly AF, Petrossians P, Nachev E, Lila AR, Lecoq AL, Lecumberri B, Trivellin G, Salvatori R, Moraitis AG, Holdaway I, Kranenburg-van Klaveren DJ, Chiara Zatelli M, Palacios N, Nozieres C, Zacharin M, Ebeling T, Ojaniemi M, Rozhinskaya L, Verrua E, Jaffrain-Rea ML, Filipponi S, Gusakova D, Pronin V, Bertherat J, Belaya Z, Ilovayskaya I, Sahnoun-Fathallah M, Sievers C, Stalla GK, Castermans E, Caberg JH, Sorkina E, Auriemma RS, Mittal S, Kareva M, Lysy PA, Emy P, De Menis E, Choong CS, Mantovani G, Bours V, De Herder W, Brue T, Barlier A, Neggers SJ, Zacharieva S, Chanson P, Shah NS, Stratakis CA, Naves LA, Beckers A. Rostomyan L, et al. Among authors: salvatori r. Endocr Relat Cancer. 2015 Oct;22(5):745-57. doi: 10.1530/ERC-15-0320. Epub 2015 Jul 17. Endocr Relat Cancer. 2015. PMID: 26187128 Free PMC article.
An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein.
Drori-Herishanu L, Horvath A, Nesterova M, Patronas Y, Lodish M, Bimpaki E, Patronas N, Agarwal S, Salvatori R, Martari M, Mericq V, Stratakis CA. Drori-Herishanu L, et al. Among authors: salvatori r. Horm Metab Res. 2009 Aug;41(8):630-4. doi: 10.1055/s-0029-1216358. Epub 2009 Apr 23. Horm Metab Res. 2009. PMID: 19391077 Free PMC article.
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.
Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, Vanbellinghen JF, Bours V, Salvatori R, Beckers A. Stratakis CA, et al. Among authors: salvatori r. Clin Genet. 2010 Nov;78(5):457-63. doi: 10.1111/j.1399-0004.2010.01406.x. Clin Genet. 2010. PMID: 20507346 Free PMC article.
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.
Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A, Cazabat L, De Menis E, Montañana CF, Raverot G, Weil RJ, Sane T, Maiter D, Neggers S, Yaneva M, Tabarin A, Verrua E, Eloranta E, Murat A, Vierimaa O, Salmela PI, Emy P, Toledo RA, Sabaté MI, Villa C, Popelier M, Salvatori R, Jennings J, Longás AF, Labarta Aizpún JI, Georgitsi M, Paschke R, Ronchi C, Valimaki M, Saloranta C, De Herder W, Cozzi R, Guitelman M, Magri F, Lagonigro MS, Halaby G, Corman V, Hagelstein MT, Vanbellinghen JF, Barra GB, Gimenez-Roqueplo AP, Cameron FJ, Borson-Chazot F, Holdaway I, Toledo SP, Stalla GK, Spada A, Zacharieva S, Bertherat J, Brue T, Bours V, Chanson P, Aaltonen LA, Beckers A. Daly AF, et al. Among authors: salvatori r. J Clin Endocrinol Metab. 2010 Nov;95(11):E373-83. doi: 10.1210/jc.2009-2556. Epub 2010 Aug 4. J Clin Endocrinol Metab. 2010. PMID: 20685857 Free article.
Genetic analysis in a patient presenting with meningioma and familial isolated pituitary adenoma (FIPA) reveals selective involvement of the R81X mutation of the AIP gene in the pathogenesis of the pituitary tumor.
Guaraldi F, Corazzini V, Gallia GL, Grottoli S, Stals K, Dalantaeva N, Frohman LA, Korbonits M, Salvatori R. Guaraldi F, et al. Among authors: salvatori r. Pituitary. 2012 Dec;15 Suppl 1:S61-7. doi: 10.1007/s11102-012-0391-y. Pituitary. 2012. PMID: 22527616
X-linked acrogigantism syndrome: clinical profile and therapeutic responses.
Beckers A, Lodish MB, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, Caberg JH, Verrua E, Naves LA, Cheetham TD, Young J, Lysy PA, Petrossians P, Cotterill A, Shah NS, Metzger D, Castermans E, Ambrosio MR, Villa C, Strebkova N, Mazerkina N, Gaillard S, Barra GB, Casulari LA, Neggers SJ, Salvatori R, Jaffrain-Rea ML, Zacharin M, Santamaria BL, Zacharieva S, Lim EM, Mantovani G, Zatelli MC, Collins MT, Bonneville JF, Quezado M, Chittiboina P, Oldfield EH, Bours V, Liu P, W de Herder W, Pellegata N, Lupski JR, Daly AF, Stratakis CA. Beckers A, et al. Among authors: salvatori r. Endocr Relat Cancer. 2015 Jun;22(3):353-67. doi: 10.1530/ERC-15-0038. Epub 2015 Feb 24. Endocr Relat Cancer. 2015. PMID: 25712922 Free PMC article.
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.
Salvatori R, Radian S, Diekmann Y, Iacovazzo D, David A, Gabrovska P, Grassi G, Bussell AM, Stals K, Weber A, Quinton R, Crowne EC, Corazzini V, Metherell L, Kearney T, Du Plessis D, Sinha AK, Baborie A, Lecoq AL, Chanson P, Ansorge O, Ellard S, Trainer PJ, Balding D, Thomas MG, Korbonits M. Salvatori R, et al. Eur J Endocrinol. 2017 Sep;177(3):257-266. doi: 10.1530/EJE-17-0293. Epub 2017 Jun 20. Eur J Endocrinol. 2017. PMID: 28634279 Free PMC article.
Acromegaly in the setting of Tatton-Brown-Rahman Syndrome.
Hage C, Sabini E, Alsharhan H, Fahrner JA, Beckers A, Daly A, Salvatori R. Hage C, et al. Among authors: salvatori r. Pituitary. 2020 Apr;23(2):167-170. doi: 10.1007/s11102-019-01019-w. Pituitary. 2020. PMID: 31858400
330 results