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Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.
Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA. Salpea P, et al. Among authors: stratakis ca. J Clin Endocrinol Metab. 2014 Jan;99(1):E183-8. doi: 10.1210/jc.2013-3159. Epub 2013 Dec 20. J Clin Endocrinol Metab. 2014. PMID: 24170103 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: stratakis ca. 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.
Carney Complex.
Kamilaris CDC, Faucz FR, Voutetakis A, Stratakis CA. Kamilaris CDC, et al. Among authors: stratakis ca. Exp Clin Endocrinol Diabetes. 2019 Feb;127(2-03):156-164. doi: 10.1055/a-0753-4943. Epub 2018 Nov 14. Exp Clin Endocrinol Diabetes. 2019. PMID: 30428497 Free article. Review.
Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness.
Tatsi C, Pankratz N, Lane J, Faucz FR, Hernández-Ramírez LC, Keil M, Trivellin G, Chittiboina P, Mills JL, Stratakis CA, Lodish MB. Tatsi C, et al. Among authors: stratakis ca. J Clin Endocrinol Metab. 2019 May 1;104(5):1792-1801. doi: 10.1210/jc.2018-02164. J Clin Endocrinol Metab. 2019. PMID: 30597087 Free PMC article.
763 results