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Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.
Almeida MQ, Azevedo MF, Xekouki P, Bimpaki EI, Horvath A, Collins MT, Karaviti LP, Jeha GS, Bhattacharyya N, Cheadle C, Watkins T, Bourdeau I, Nesterova M, Stratakis CA. Almeida MQ, et al. Among authors: azevedo mf. J Clin Endocrinol Metab. 2012 Apr;97(4):E687-93. doi: 10.1210/jc.2011-3000. Epub 2012 Jan 18. J Clin Endocrinol Metab. 2012. PMID: 22259056 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: azevedo mf. 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 and molecular genetics of the phosphodiesterases (PDEs).
Azevedo MF, Faucz FR, Bimpaki E, Horvath A, Levy I, de Alexandre RB, Ahmad F, Manganiello V, Stratakis CA. Azevedo MF, et al. Endocr Rev. 2014 Apr;35(2):195-233. doi: 10.1210/er.2013-1053. Epub 2013 Dec 5. Endocr Rev. 2014. PMID: 24311737 Free PMC article. Review.
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. 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.
1,252 results