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Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA. Bertherat J, et al. J Clin Endocrinol Metab. 2009 Jun;94(6):2085-91. doi: 10.1210/jc.2008-2333. Epub 2009 Mar 17. J Clin Endocrinol Metab. 2009. PMID: 19293268 Free PMC article.
Adrenal pathophysiology: lessons from the Carney complex.
Groussin L, Cazabat L, René-Corail F, Jullian E, Bertherat J. Groussin L, et al. Horm Res. 2005;64(3):132-9. doi: 10.1159/000088586. Epub 2005 Sep 27. Horm Res. 2005. PMID: 16192737 Free article. Review.
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.
Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J. Groussin L, et al. J Clin Endocrinol Metab. 2006 May;91(5):1943-9. doi: 10.1210/jc.2005-2708. Epub 2006 Feb 7. J Clin Endocrinol Metab. 2006. PMID: 16464939 Free article.
Wnt/β-catenin pathway activation in adrenocortical adenomas is frequently due to somatic CTNNB1-activating mutations, which are associated with larger and nonsecreting tumors: a study in cortisol-secreting and -nonsecreting tumors.
Bonnet S, Gaujoux S, Launay P, Baudry C, Chokri I, Ragazzon B, Libé R, René-Corail F, Audebourg A, Vacher-Lavenu MC, Groussin L, Bertagna X, Dousset B, Bertherat J, Tissier F. Bonnet S, et al. Among authors: rene corail f. J Clin Endocrinol Metab. 2011 Feb;96(2):E419-26. doi: 10.1210/jc.2010-1885. Epub 2010 Nov 17. J Clin Endocrinol Metab. 2011. PMID: 21084400
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.
Cazabat L, Libè R, Perlemoine K, René-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, Bertherat J, Raffin-Sanson ML. Cazabat L, et al. Eur J Endocrinol. 2007 Jul;157(1):1-8. doi: 10.1530/EJE-07-0181. Eur J Endocrinol. 2007. PMID: 17609395
Systematic analysis of G protein-coupled receptor gene expression in adrenocorticotropin-independent macronodular adrenocortical hyperplasia identifies novel targets for pharmacological control of adrenal Cushing's syndrome.
Assie G, Louiset E, Sturm N, René-Corail F, Groussin L, Bertherat J, Thomas M, Lefebvre H, Feige JJ, Clauser E, Chabre O, Cherradi N. Assie G, et al. J Clin Endocrinol Metab. 2010 Oct;95(10):E253-62. doi: 10.1210/jc.2009-2281. Epub 2010 Jul 21. J Clin Endocrinol Metab. 2010. PMID: 20660048
Clinical and pathophysiological implications of chromosomal alterations in adrenocortical tumors: an integrated genomic approach.
Barreau O, de Reynies A, Wilmot-Roussel H, Guillaud-Bataille M, Auzan C, René-Corail F, Tissier F, Dousset B, Bertagna X, Bertherat J, Clauser E, Assié G. Barreau O, et al. Among authors: rene corail f. J Clin Endocrinol Metab. 2012 Feb;97(2):E301-11. doi: 10.1210/jc.2011-1588. Epub 2011 Nov 23. J Clin Endocrinol Metab. 2012. PMID: 22112813
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. Among authors: rene corail f. 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.
22 results