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KDM1A inactivation causes hereditary food-dependent Cushing syndrome.
Vaczlavik A, Bouys L, Violon F, Giannone G, Jouinot A, Armignacco R, Cavalcante IP, Berthon A, Letouzé E, Vaduva P, Barat M, Bonnet F, Perlemoine K, Ribes C, Sibony M, North MO, Espiard S, Emy P, Haissaguerre M, Tauveron I, Guignat L, Groussin L, Dousset B, Reincke M, Fragoso MC, Stratakis CA, Pasmant E, Libé R, Assié G, Ragazzon B, Bertherat J. Vaczlavik A, et al. Among authors: espiard s. Genet Med. 2022 Feb;24(2):374-383. doi: 10.1016/j.gim.2021.09.018. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906447 Free article.
Carney complex.
Espiard S, Bertherat J. Espiard S, et al. Front Horm Res. 2013;41:50-62. doi: 10.1159/000345669. Epub 2013 Mar 19. Front Horm Res. 2013. PMID: 23652670 Review.
ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.
Assié G, Libé R, Espiard S, Rizk-Rabin M, Guimier A, Luscap W, Barreau O, Lefèvre L, Sibony M, Guignat L, Rodriguez S, Perlemoine K, René-Corail F, Letourneur F, Trabulsi B, Poussier A, Chabbert-Buffet N, Borson-Chazot F, Groussin L, Bertagna X, Stratakis CA, Ragazzon B, Bertherat J. Assié G, et al. Among authors: espiard s. N Engl J Med. 2013 Nov 28;369(22):2105-14. doi: 10.1056/NEJMoa1304603. N Engl J Med. 2013. PMID: 24283224 Free PMC article.
Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation.
Faucz FR, Zilbermint M, Lodish MB, Szarek E, Trivellin G, Sinaii N, Berthon A, Libé R, Assié G, Espiard S, Drougat L, Ragazzon B, Bertherat J, Stratakis CA. Faucz FR, et al. Among authors: espiard s. J Clin Endocrinol Metab. 2014 Jun;99(6):E1113-9. doi: 10.1210/jc.2013-4280. Epub 2014 Mar 6. J Clin Endocrinol Metab. 2014. PMID: 24601692 Free PMC article.
Protein kinase A alterations in adrenocortical tumors.
Espiard S, Ragazzon B, Bertherat J. Espiard S, et al. Horm Metab Res. 2014 Nov;46(12):869-75. doi: 10.1055/s-0034-1385908. Epub 2014 Aug 8. Horm Metab Res. 2014. PMID: 25105543 Review.
Primary Aldosteronism and ARMC5 Variants.
Zilbermint M, Xekouki P, Faucz FR, Berthon A, Gkourogianni A, Schernthaner-Reiter MH, Batsis M, Sinaii N, Quezado MM, Merino M, Hodes A, Abraham SB, Libé R, Assié G, Espiard S, Drougat L, Ragazzon B, Davis A, Gebreab SY, Neff R, Kebebew E, Bertherat J, Lodish MB, Stratakis CA. Zilbermint M, et al. Among authors: espiard s. J Clin Endocrinol Metab. 2015 Jun;100(6):E900-9. doi: 10.1210/jc.2014-4167. Epub 2015 Mar 30. J Clin Endocrinol Metab. 2015. PMID: 25822102 Free PMC article.
ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.
Espiard S, Drougat L, Libé R, Assié G, Perlemoine K, Guignat L, Barrande G, Brucker-Davis F, Doullay F, Lopez S, Sonnet E, Torremocha F, Pinsard D, Chabbert-Buffet N, Raffin-Sanson ML, Groussin L, Borson-Chazot F, Coste J, Bertagna X, Stratakis CA, Beuschlein F, Ragazzon B, Bertherat J. Espiard S, et al. J Clin Endocrinol Metab. 2015 Jun;100(6):E926-35. doi: 10.1210/jc.2014-4204. Epub 2015 Apr 8. J Clin Endocrinol Metab. 2015. PMID: 25853793 Free PMC article.
The genetics of adrenocortical tumors.
Espiard S, Bertherat J. Espiard S, et al. Endocrinol Metab Clin North Am. 2015 Jun;44(2):311-34. doi: 10.1016/j.ecl.2015.02.004. Endocrinol Metab Clin North Am. 2015. PMID: 26038203 Review.
57 results