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Page 1
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.
Faucz FR, Tirosh A, Tatsi C, Berthon A, Hernández-Ramírez LC, Settas N, Angelousi A, Correa R, Papadakis GZ, Chittiboina P, Quezado M, Pankratz N, Lane J, Dimopoulos A, Mills JL, Lodish M, Stratakis CA. Faucz FR, et al. Among authors: quezado m. J Clin Endocrinol Metab. 2017 Aug 1;102(8):2836-2843. doi: 10.1210/jc.2017-00161. J Clin Endocrinol Metab. 2017. PMID: 28505279 Free PMC article.
Myxoma of the ear lobe in a 23-month-old girl with Carney complex.
Briassoulis G, Quezado M, Lee CC, Xekouki P, Keil M, Stratakis CA. Briassoulis G, et al. Among authors: quezado m. J Cutan Pathol. 2012 Jan;39(1):68-71. doi: 10.1111/j.1600-0560.2011.01786.x. Epub 2011 Sep 1. J Cutan Pathol. 2012. PMID: 21880053 Free PMC article.
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?
Xekouki P, Pacak K, Almeida M, Wassif CA, Rustin P, Nesterova M, de la Luz Sierra M, Matro J, Ball E, Azevedo M, Horvath A, Lyssikatos C, Quezado M, Patronas N, Ferrando B, Pasini B, Lytras A, Tolis G, Stratakis CA. Xekouki P, et al. Among authors: quezado m. J Clin Endocrinol Metab. 2012 Mar;97(3):E357-66. doi: 10.1210/jc.2011-1179. Epub 2011 Dec 14. J Clin Endocrinol Metab. 2012. PMID: 22170724 Free PMC article.
Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.
Briassoulis G, Horvath A, Christoforou P, Lodish M, Xekouki P, Quezado M, Patronas N, Keil MF, Stratakis CA. Briassoulis G, et al. Among authors: quezado m. J Pediatr Endocrinol Metab. 2012;25(1-2):213-9. doi: 10.1515/jpem.2011.371. J Pediatr Endocrinol Metab. 2012. PMID: 22570980 Free PMC article.
Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.
Azevedo MF, Horvath A, Bornstein ER, Almeida MQ, Xekouki P, Faucz FR, Gourgari E, Nadella K, Remmers EF, Quezado M, de Alexandre RB, Kratz CP, Nesterova M, Greene MH, Stratakis CA. Azevedo MF, et al. Among authors: quezado m. J Clin Endocrinol Metab. 2013 Aug;98(8):E1393-400. doi: 10.1210/jc.2012-2838. Epub 2013 Jun 14. J Clin Endocrinol Metab. 2013. PMID: 23771924 Free PMC article.
Brain metastasis in patients with adrenocortical carcinoma: a clinical series.
Burotto M, Tageja N, Rosenberg A, Mahalingam S, Quezado M, Velarde M, Edgerly M, Fojo T. Burotto M, et al. Among authors: quezado m. J Clin Endocrinol Metab. 2015 Feb;100(2):331-6. doi: 10.1210/jc.2014-2650. Epub 2014 Nov 20. J Clin Endocrinol Metab. 2015. PMID: 25412413 Free PMC article.
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenický P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. Trivellin G, et al. Among authors: quezado m. N Engl J Med. 2014 Dec 18;371(25):2363-74. doi: 10.1056/NEJMoa1408028. Epub 2014 Dec 3. N Engl J Med. 2014. PMID: 25470569 Free PMC article.
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.
Xekouki P, Szarek E, Bullova P, Giubellino A, Quezado M, Mastroyannis SA, Mastorakos P, Wassif CA, Raygada M, Rentia N, Dye L, Cougnoux A, Koziol D, Sierra Mde L, Lyssikatos C, Belyavskaya E, Malchoff C, Moline J, Eng C, Maher LJ 3rd, Pacak K, Lodish M, Stratakis CA. Xekouki P, et al. Among authors: quezado m. J Clin Endocrinol Metab. 2015 May;100(5):E710-9. doi: 10.1210/jc.2014-4297. Epub 2015 Feb 19. J Clin Endocrinol Metab. 2015. PMID: 25695889 Free PMC article.
262 results