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Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.
Briassoulis G, Horvath A, Christoforou P, Lodish M, Xekouki P, Quezado M, Patronas N, Keil MF, Stratakis CA. Briassoulis G, et al. J Pediatr Endocrinol Metab. 2012;25(1-2):213-9. doi: 10.1515/jpem.2011.371. J Pediatr Endocrinol Metab. 2012. PMID: 22570980 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: lodish mb. 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.
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: lodish mb. 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.
Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.
Lodish MB, Yuan B, Levy I, Braunstein GD, Lyssikatos C, Salpea P, Szarek E, Karageorgiadis AS, Belyavskaya E, Raygada M, Faucz FR, Izzat L, Brain C, Gardner J, Quezado M, Carney JA, Lupski JR, Stratakis CA. Lodish MB, et al. Eur J Endocrinol. 2015 Jun;172(6):803-11. doi: 10.1530/EJE-14-1154. Eur J Endocrinol. 2015. PMID: 25924874 Free PMC article.
Cushing's Syndrome in Pediatrics: An Update.
Lodish MB, Keil MF, Stratakis CA. Lodish MB, et al. Endocrinol Metab Clin North Am. 2018 Jun;47(2):451-462. doi: 10.1016/j.ecl.2018.02.008. Endocrinol Metab Clin North Am. 2018. PMID: 29754644 Free PMC article. Review.
Death in pediatric Cushing syndrome is uncommon but still occurs.
Gkourogianni A, Lodish MB, Zilbermint M, Lyssikatos C, Belyavskaya E, Keil MF, Stratakis CA. Gkourogianni A, et al. Among authors: lodish mb. Eur J Pediatr. 2015 Apr;174(4):501-7. doi: 10.1007/s00431-014-2427-y. Epub 2014 Sep 23. Eur J Pediatr. 2015. PMID: 25241829 Free PMC article.
138 results