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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: stratakis c. 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.
Pituitary pathology in Carney complex patients.
Stergiopoulos SG, Abu-Asab MS, Tsokos M, Stratakis CA. Stergiopoulos SG, et al. Pituitary. 2004;7(2):73-82. doi: 10.1007/s11102-005-5348-y. Pituitary. 2004. PMID: 15761655 Free PMC article.
A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report.
Mai PL, Korde L, Kramer J, Peters J, Mueller CM, Pfeiffer S, Stratakis CA, Pinto PA, Bratslavsky G, Merino M, Choyke P, Linehan WM, Greene MH. Mai PL, et al. J Med Case Rep. 2007 Mar 28;1:9. doi: 10.1186/1752-1947-1-9. J Med Case Rep. 2007. PMID: 17411461 Free PMC article.
Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors.
Matyakhina L, Bei TA, McWhinney SR, Pasini B, Cameron S, Gunawan B, Stergiopoulos SG, Boikos S, Muchow M, Dutra A, Pak E, Campo E, Cid MC, Gomez F, Gaillard RC, Assie G, Füzesi L, Baysal BE, Eng C, Carney JA, Stratakis CA. Matyakhina L, et al. Among authors: stratakis ca. J Clin Endocrinol Metab. 2007 Aug;92(8):2938-43. doi: 10.1210/jc.2007-0797. Epub 2007 May 29. J Clin Endocrinol Metab. 2007. PMID: 17535989
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: stratakis ca. 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. 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
Hypocalcemia in a patient with osteosarcoma and 22q11.2 deletion syndrome.
Mussai FJ, Cunningham LC, Rezvani G, Stratakis CA, Reynolds JC, Nesterova G, Henshaw RM, Levine JE, Helman LJ, Arthur DC, Kim SY. Mussai FJ, et al. Among authors: stratakis ca. J Pediatr Hematol Oncol. 2008 Aug;30(8):612-7. doi: 10.1097/MPH.0b013e318168f072. J Pediatr Hematol Oncol. 2008. PMID: 18799940 Free PMC article.
The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications.
Stratakis CA, Carney JA. Stratakis CA, et al. J Intern Med. 2009 Jul;266(1):43-52. doi: 10.1111/j.1365-2796.2009.02110.x. J Intern Med. 2009. PMID: 19522824 Free PMC article. Review.
Inactivating mutations of the mitochondrial complex II succinate dehydrogenase (SDH) enzyme subunits SDHB, SDHC and SDHD have been found in familial and sporadic PGLs, and gain-of-function mutations of the oncogenes c-kit (KIT) and platelet-derived growth factor receptor A …
Inactivating mutations of the mitochondrial complex II succinate dehydrogenase (SDH) enzyme subunits SDHB, SDHC and SDHD have been found in …
Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.
Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA. Horvath A, et al. Cancer Res. 2009 Jul 1;69(13):5301-6. doi: 10.1158/0008-5472.CAN-09-0884. Epub 2009 Jun 23. Cancer Res. 2009. PMID: 19549888 Free PMC article.
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: stratakis ca. 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.
Mutations in the genes encoding succinate dehydrogenase subunits (SDH) B, C, and D (SDHx) have been associated with PGLs, but their contribution to PGLs of the organ of Zuckerkandl PGLs is not known. ...Eleven out of 14 (79%) patients with PGLs of the organ of Zuckerkandl …
Mutations in the genes encoding succinate dehydrogenase subunits (SDH) B, C, and D (SDHx) have been associated with PGLs, but their c …
1,006 results