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Page 1
Rare inactivating PDE11A variants associated with testicular germ cell tumors.
Pathak A, Stewart DR, Faucz FR, Xekouki P, Bass S, Vogt A, Zhang X, Boland J, Yeager M, Loud JT, Nathanson KL, McGlynn KA, Stratakis CA, Greene MH, Mirabello L. Pathak A, et al. Among authors: xekouki p. Endocr Relat Cancer. 2015 Dec;22(6):909-17. doi: 10.1530/ERC-15-0034. Endocr Relat Cancer. 2015. PMID: 26459559 Free PMC article.
Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.
Azevedo MF, Horvath A, Bornstein ER, Almeida MQ, Xekouki P, Faucz FR, Gourgari E, Nadella K, Remmers EF, Quezado M, de Alexandre RB, Kratz CP, Nesterova M, Greene MH, Stratakis CA. Azevedo MF, et al. Among authors: xekouki p. J Clin Endocrinol Metab. 2013 Aug;98(8):E1393-400. doi: 10.1210/jc.2012-2838. Epub 2013 Jun 14. J Clin Endocrinol Metab. 2013. PMID: 23771924 Free PMC article.
Is IGSF1 involved in human pituitary tumor formation?
Faucz FR, Horvath AD, Azevedo MF, Levy I, Bak B, Wang Y, Xekouki P, Szarek E, Gourgari E, Manning AD, de Alexandre RB, Saloustros E, Trivellin G, Lodish M, Hofman P, Anderson YC, Holdaway I, Oldfield E, Chittiboina P, Nesterova M, Biermasz NR, Wit JM, Bernard DJ, Stratakis CA. Faucz FR, et al. Among authors: xekouki p. Endocr Relat Cancer. 2015 Feb;22(1):47-54. doi: 10.1530/ERC-14-0465. Epub 2014 Dec 19. Endocr Relat Cancer. 2015. PMID: 25527509 Free PMC article.
KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.
Xekouki P, Hatch MM, Lin L, Rodrigo de A, Azevedo M, de la Luz Sierra M, Levy I, Saloustros E, Moraitis A, Horvath A, Kebebew E, Hoffman DA, Stratakis CA. Xekouki P, et al. Endocr Relat Cancer. 2012 May 3;19(3):255-60. doi: 10.1530/ERC-12-0022. Print 2012 Jun. Endocr Relat Cancer. 2012. PMID: 22323562 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: xekouki p. 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.
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.
Boikos SA, Xekouki P, Fumagalli E, Faucz FR, Raygada M, Szarek E, Ball E, Kim SY, Miettinen M, Helman LJ, Carney JA, Pacak K, Stratakis CA. Boikos SA, et al. Among authors: xekouki p. Eur J Hum Genet. 2016 Apr;24(4):569-73. doi: 10.1038/ejhg.2015.142. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173966 Free PMC article.
Myxoma of the ear lobe in a 23-month-old girl with Carney complex.
Briassoulis G, Quezado M, Lee CC, Xekouki P, Keil M, Stratakis CA. Briassoulis G, et al. Among authors: xekouki p. J Cutan Pathol. 2012 Jan;39(1):68-71. doi: 10.1111/j.1600-0560.2011.01786.x. Epub 2011 Sep 1. J Cutan Pathol. 2012. PMID: 21880053 Free PMC article.
66 results