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Page 1
Carney complex: Clinical and genetic 2010 update.
Vezzosi D, Vignaux O, Dupin N, Bertherat J. Vezzosi D, et al. Ann Endocrinol (Paris). 2010 Dec;71(6):486-93. doi: 10.1016/j.ando.2010.08.002. Epub 2010 Sep 17. Ann Endocrinol (Paris). 2010. PMID: 20850710 Review.
Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.
Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA. Libé R, et al. Among authors: vezzosi d. J Clin Endocrinol Metab. 2011 Jan;96(1):E208-14. doi: 10.1210/jc.2010-1704. Epub 2010 Nov 3. J Clin Endocrinol Metab. 2011. PMID: 21047926 Free PMC article.
Pathogenesis of benign adrenocortical tumors.
Vezzosi D, Bertherat J, Groussin L. Vezzosi D, et al. Best Pract Res Clin Endocrinol Metab. 2010 Dec;24(6):893-905. doi: 10.1016/j.beem.2010.10.005. Best Pract Res Clin Endocrinol Metab. 2010. PMID: 21115158
Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.
Rothenbuhler A, Horvath A, Libé R, Faucz FR, Fratticci A, Raffin Sanson ML, Vezzosi D, Azevedo M, Levy I, Almeida MQ, Lodish M, Nesterova M, Bertherat J, Stratakis CA. Rothenbuhler A, et al. Among authors: vezzosi d. Clin Endocrinol (Oxf). 2012 Aug;77(2):195-9. doi: 10.1111/j.1365-2265.2012.04366.x. Clin Endocrinol (Oxf). 2012. PMID: 22335482 Free PMC article.
Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.
Vezzosi D, Libé R, Baudry C, Rizk-Rabin M, Horvath A, Levy I, René-Corail F, Ragazzon B, Stratakis CA, Vandecasteele G, Bertherat J. Vezzosi D, et al. J Clin Endocrinol Metab. 2012 Nov;97(11):E2063-9. doi: 10.1210/jc.2012-2275. Epub 2012 Sep 20. J Clin Endocrinol Metab. 2012. PMID: 22996146 Free PMC article.
One-year progression-free survival of therapy-naive patients with malignant pheochromocytoma and paraganglioma.
Hescot S, Leboulleux S, Amar L, Vezzosi D, Borget I, Bournaud-Salinas C, de la Fouchardiere C, Libé R, Do Cao C, Niccoli P, Tabarin A, Raingeard I, Chougnet C, Giraud S, Gimenez-Roqueplo AP, Young J, Borson-Chazot F, Bertherat J, Wemeau JL, Bertagna X, Plouin PF, Schlumberger M, Baudin E; French group of Endocrine and Adrenal tumors (Groupe des Tumeurs Endocrines-REseau NAtional des Tumeurs ENdocrines and COrtico-MEdullo Tumeurs Endocrines networks). Hescot S, et al. Among authors: vezzosi d. J Clin Endocrinol Metab. 2013 Oct;98(10):4006-12. doi: 10.1210/jc.2013-1907. Epub 2013 Jul 24. J Clin Endocrinol Metab. 2013. PMID: 23884775
Inactivation of the Carney complex gene 1 (PRKAR1A) alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase: a study using genetically encoded FRET-based reporters.
Cazabat L, Ragazzon B, Varin A, Potier-Cartereau M, Vandier C, Vezzosi D, Risk-Rabin M, Guellich A, Schittl J, Lechêne P, Richter W, Nikolaev VO, Zhang J, Bertherat J, Vandecasteele G. Cazabat L, et al. Among authors: vezzosi d. Hum Mol Genet. 2014 Mar 1;23(5):1163-74. doi: 10.1093/hmg/ddt510. Epub 2013 Oct 10. Hum Mol Genet. 2014. PMID: 24122441 Free PMC article.
86 results