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Page 1
Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor.
Killian JK, Kim SY, Miettinen M, Smith C, Merino M, Tsokos M, Quezado M, Smith WI Jr, Jahromi MS, Xekouki P, Szarek E, Walker RL, Lasota J, Raffeld M, Klotzle B, Wang Z, Jones L, Zhu Y, Wang Y, Waterfall JJ, O'Sullivan MJ, Bibikova M, Pacak K, Stratakis C, Janeway KA, Schiffman JD, Fan JB, Helman L, Meltzer PS. Killian JK, et al. Among authors: xekouki p. Cancer Discov. 2013 Jun;3(6):648-57. doi: 10.1158/2159-8290.CD-13-0092. Epub 2013 Apr 2. Cancer Discov. 2013. PMID: 23550148 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.
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?
Xekouki P, Pacak K, Almeida M, Wassif CA, Rustin P, Nesterova M, de la Luz Sierra M, Matro J, Ball E, Azevedo M, Horvath A, Lyssikatos C, Quezado M, Patronas N, Ferrando B, Pasini B, Lytras A, Tolis G, Stratakis CA. Xekouki P, et al. J Clin Endocrinol Metab. 2012 Mar;97(3):E357-66. doi: 10.1210/jc.2011-1179. Epub 2011 Dec 14. J Clin Endocrinol Metab. 2012. PMID: 22170724 Free PMC article.
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.
Xekouki P, Szarek E, Bullova P, Giubellino A, Quezado M, Mastroyannis SA, Mastorakos P, Wassif CA, Raygada M, Rentia N, Dye L, Cougnoux A, Koziol D, Sierra Mde L, Lyssikatos C, Belyavskaya E, Malchoff C, Moline J, Eng C, Maher LJ 3rd, Pacak K, Lodish M, Stratakis CA. Xekouki P, et al. J Clin Endocrinol Metab. 2015 May;100(5):E710-9. doi: 10.1210/jc.2014-4297. Epub 2015 Feb 19. J Clin Endocrinol Metab. 2015. PMID: 25695889 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.
68 results