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Page 1
Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.
Bataille MG, Rhayem Y, Sousa SB, Libé R, Dambrun M, Chevalier C, Nigou M, Auzan C, North MO, Sa J, Gomes L, Salpea P, Horvath A, Stratakis CA, Hamzaoui N, Bertherat J, Clauser E. Bataille MG, et al. Among authors: clauser e. Eur J Endocrinol. 2013 Nov 29;170(1):151-160. doi: 10.1530/EJE-13-0740. Print 2014 Jan. Eur J Endocrinol. 2013. PMID: 24144965 Free PMC article.
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.
Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, Cazabat L, Libé R, Remmers E, René-Corail F, Faucz FR, Clauser E, Calender A, Bertagna X, Carney JA, Stratakis CA. Horvath A, et al. Among authors: clauser e. Hum Mutat. 2010 Apr;31(4):369-79. doi: 10.1002/humu.21178. Hum Mutat. 2010. PMID: 20358582 Free PMC article.
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: clauser e. 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.
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. Among authors: clauser e. 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.
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. Among authors: clauser e. Eur J Endocrinol. 2007 Jul;157(1):1-8. doi: 10.1530/EJE-07-0181. Eur J Endocrinol. 2007. PMID: 17609395
Aberrant cortisol regulations in bilateral macronodular adrenal hyperplasia: a frequent finding in a prospective study of 32 patients with overt or subclinical Cushing's syndrome.
Libé R, Coste J, Guignat L, Tissier F, Lefebvre H, Barrande G, Ajzenberg C, Tauveron I, Clauser E, Dousset B, Bertagna X, Bertherat J, Groussin L. Libé R, et al. Among authors: clauser e. Eur J Endocrinol. 2010 Jul;163(1):129-38. doi: 10.1530/EJE-10-0195. Epub 2010 Apr 8. Eur J Endocrinol. 2010. PMID: 20378721
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.
Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M, Motte E, Pinto G, Chanson P, Bougnères P, Clauser E, Silve C. Linglart A, et al. Among authors: clauser e. N Engl J Med. 2011 Jun 9;364(23):2218-26. doi: 10.1056/NEJMoa1012717. N Engl J Med. 2011. PMID: 21651393 Free article.
170 results