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Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos SA, Ferrando B, Pacak K, Assie G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, Gimenez-Roqueplo AP, Eng C, Carney JA, Stratakis CA. Pasini B, et al. Among authors: pacak k. Eur J Hum Genet. 2008 Jan;16(1):79-88. doi: 10.1038/sj.ejhg.5201904. Epub 2007 Aug 1. Eur J Hum Genet. 2008. PMID: 17667967
Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.
Timmers HJ, Pacak K, Bertherat J, Lenders JW, Duet M, Eisenhofer G, Stratakis CA, Niccoli-Sire P, Tran BH, Burnichon N, Gimenez-Roqueplo AP. Timmers HJ, et al. Among authors: pacak k. Clin Endocrinol (Oxf). 2008 Apr;68(4):561-6. doi: 10.1111/j.1365-2265.2007.03086.x. Epub 2007 Oct 31. Clin Endocrinol (Oxf). 2008. PMID: 17973943
Clinical aspects of SDHx-related pheochromocytoma and paraganglioma.
Timmers HJ, Gimenez-Roqueplo AP, Mannelli M, Pacak K. Timmers HJ, et al. Among authors: pacak k. Endocr Relat Cancer. 2009 Jun;16(2):391-400. doi: 10.1677/ERC-08-0284. Epub 2009 Feb 3. Endocr Relat Cancer. 2009. PMID: 19190077 Free PMC article. Review.
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.
van Nederveen FH, Gaal J, Favier J, Korpershoek E, Oldenburg RA, de Bruyn EM, Sleddens HF, Derkx P, Rivière J, Dannenberg H, Petri BJ, Komminoth P, Pacak K, Hop WC, Pollard PJ, Mannelli M, Bayley JP, Perren A, Niemann S, Verhofstad AA, de Bruïne AP, Maher ER, Tissier F, Méatchi T, Badoual C, Bertherat J, Amar L, Alataki D, Van Marck E, Ferrau F, François J, de Herder WW, Peeters MP, van Linge A, Lenders JW, Gimenez-Roqueplo AP, de Krijger RR, Dinjens WN. van Nederveen FH, et al. Among authors: pacak k. Lancet Oncol. 2009 Aug;10(8):764-71. doi: 10.1016/S1470-2045(09)70164-0. Epub 2009 Jul 1. Lancet Oncol. 2009. PMID: 19576851 Free PMC article. Clinical Trial.
Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.
Lodish MB, Adams KT, Huynh TT, Prodanov T, Ling A, Chen C, Shusterman S, Jimenez C, Merino M, Hughes M, Cradic KW, Milosevic D, Singh RJ, Stratakis CA, Pacak K. Lodish MB, et al. Among authors: pacak k. Endocr Relat Cancer. 2010 Jun 3;17(3):581-8. doi: 10.1677/ERC-10-0004. Print 2010 Sep. Endocr Relat Cancer. 2010. PMID: 20418362 Free PMC article.
Metastatic pheochromocytoma/paraganglioma related to primary tumor development in childhood or adolescence: significant link to SDHB mutations.
King KS, Prodanov T, Kantorovich V, Fojo T, Hewitt JK, Zacharin M, Wesley R, Lodish M, Raygada M, Gimenez-Roqueplo AP, McCormack S, Eisenhofer G, Milosevic D, Kebebew E, Stratakis CA, Pacak K. King KS, et al. Among authors: pacak k. J Clin Oncol. 2011 Nov 1;29(31):4137-42. doi: 10.1200/JCO.2011.34.6353. Epub 2011 Oct 3. J Clin Oncol. 2011. PMID: 21969497 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. Among authors: pacak k. 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.
An update on the genetics of pheochromocytoma.
Karasek D, Shah U, Frysak Z, Stratakis C, Pacak K. Karasek D, et al. Among authors: pacak k. J Hum Hypertens. 2013 Mar;27(3):141-7. doi: 10.1038/jhh.2012.20. Epub 2012 May 31. J Hum Hypertens. 2013. PMID: 22648268 Free PMC article. Review.
746 results