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Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.
Hernández-Ramírez LC, Gam R, Valdés N, Lodish MB, Pankratz N, Balsalobre A, Gauthier Y, Faucz FR, Trivellin G, Chittiboina P, Lane J, Kay DM, Dimopoulos A, Gaillard S, Neou M, Bertherat J, Assié G, Villa C, Mills JL, Drouin J, Stratakis CA. Hernández-Ramírez LC, et al. Among authors: dimopoulos a. Endocr Relat Cancer. 2017 Aug;24(8):379-392. doi: 10.1530/ERC-17-0131. Epub 2017 May 22. Endocr Relat Cancer. 2017. PMID: 28533356 Free PMC article.
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.
Faucz FR, Tirosh A, Tatsi C, Berthon A, Hernández-Ramírez LC, Settas N, Angelousi A, Correa R, Papadakis GZ, Chittiboina P, Quezado M, Pankratz N, Lane J, Dimopoulos A, Mills JL, Lodish M, Stratakis CA. Faucz FR, et al. Among authors: dimopoulos a. J Clin Endocrinol Metab. 2017 Aug 1;102(8):2836-2843. doi: 10.1210/jc.2017-00161. J Clin Endocrinol Metab. 2017. PMID: 28505279 Free PMC article.
Corticotropinoma as a Component of Carney Complex.
Hernández-Ramírez LC, Tatsi C, Lodish MB, Faucz FR, Pankratz N, Chittiboina P, Lane J, Kay DM, Valdés N, Dimopoulos A, Mills JL, Stratakis CA. Hernández-Ramírez LC, et al. Among authors: dimopoulos a. J Endocr Soc. 2017 May 30;1(7):918-925. doi: 10.1210/js.2017-00231. eCollection 2017 Jul 1. J Endocr Soc. 2017. PMID: 29264542 Free PMC article.
Rare copy number variants identified in prune belly syndrome.
Boghossian NS, Sicko RJ, Giannakou A, Dimopoulos A, Caggana M, Tsai MY, Yeung EH, Pankratz N, Cole BR, Romitti PA, Browne ML, Fan R, Liu A, Kay DM, Mills JL. Boghossian NS, et al. Among authors: dimopoulos a. Eur J Med Genet. 2018 Mar;61(3):145-151. doi: 10.1016/j.ejmg.2017.11.008. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174092 Free PMC article.
Folic acid fortification for Europe?
Mills JL, Dimopoulos A. Mills JL, et al. Among authors: dimopoulos a. BMJ. 2015 Nov 24;351:h6198. doi: 10.1136/bmj.h6198. BMJ. 2015. PMID: 26602789 No abstract available.
Authors' reply to Smith and colleagues.
Mills JL, Dimopoulos A. Mills JL, et al. Among authors: dimopoulos a. BMJ. 2016 Feb 16;352:i746. doi: 10.1136/bmj.i746. BMJ. 2016. PMID: 26882916 Free PMC article. No abstract available.
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.
Hagen EM, Sicko RJ, Kay DM, Rigler SL, Dimopoulos A, Ahmad S, Doleman MH, Fan R, Romitti PA, Browne ML, Caggana M, Brody LC, Shaw GM, Jelliffe-Pawlowski LL, Mills JL. Hagen EM, et al. Among authors: dimopoulos a. Hum Genet. 2016 Dec;135(12):1355-1364. doi: 10.1007/s00439-016-1727-x. Epub 2016 Sep 15. Hum Genet. 2016. PMID: 27637763 Free PMC article.
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