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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. 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
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
Bayley JP, van Minderhout I, Weiss MM, Jansen JC, Oomen PH, Menko FH, Pasini B, Ferrando B, Wong N, Alpert LC, Williams R, Blair E, Devilee P, Taschner PE. Bayley JP, et al. Among authors: pasini b. BMC Med Genet. 2006 Jan 11;7:1. doi: 10.1186/1471-2350-7-1. BMC Med Genet. 2006. PMID: 16405730 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: pasini b. 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
Familial gastrointestinal stromal tumors and germ-line mutations.
McWhinney SR, Pasini B, Stratakis CA; International Carney Triad and Carney-Stratakis Syndrome Consortium. McWhinney SR, et al. Among authors: pasini b. N Engl J Med. 2007 Sep 6;357(10):1054-6. doi: 10.1056/NEJMc071191. N Engl J Med. 2007. PMID: 17804857 No abstract available.
Hereditary paragangliomas.
Raygada M, Pasini B, Stratakis CA. Raygada M, et al. Among authors: pasini b. Adv Otorhinolaryngol. 2011;70:99-106. doi: 10.1159/000322484. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358191 Free PMC article. Review.
161 results