y1407345分类号;R739.91密级:学位类别:科学学位曰专业学位口◎学校代码:学号l0062加惦24惦又蚌酱科矢垮TlANJINMEDlCALUNIVERSlll硕士学位论文MASTER’SDISSER,I:ATIoN论文题目:副神经节瘤SDHD、SDHB基因突变分析TITLEAnalysisofSDHDandSDHBgenemutationsinparagangliomas一级学科:临床医学二级学科:肿瘤学论文作者:**指导...
Journal of Medical GeneticsArmstrong R, Greenhalgh KL, Rattenberry E, et al. Succinate dehydrogenase subunit B (SDHB) gene deletion associated with a composite paraganglioma/neuroblastoma. J Med Genet 2009;46(3):215-16.Armstrong R, Greenhalgh KL, Rattenberry E, et al. Succinate dehydrogenase ...
- 《Human Molecular Genetics》 被引量: 123发表: 2009年 Low penetrance of a SDHB mutation in a large Dutch paraganglioma family Background Germline mutations of the succinate dehydrogenase subunit B gene (SDHB) predispose carriers for paragangliomas, and current estimates of the cha... FJ Hes,...
[18] Pasini B,McWhinney SR,Bei T,et al.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[J].Eur J Hum Genet,2008,16(1):79-88. [19] Elston MS,Sehgal S...
Genetics of Carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. J Clin Endocrinol Metab 2007;92:2938–2943. Article CAS Google Scholar van Nederveen FH, Gaal J, Favier J, et al. An ...
- 《Bmc Medical Genetics》 被引量: 196发表: 2006年 SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. Mutations in the tumor suppressor genes SDHB, SDHC, and SDHD (or collectively SDHx) cause the inherited paraganglioma ...
[16]Stratakis CA,Carney JA.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[J].J Intern Med,2009,266: 43-52. ...
Genetics Prognosis Reference Grossly Microscopically Thyroid-like follicular carcinoma Very rare; mean age 45 years Wide size range; tan to brown; well-circumscribed Prominent pseudocapsule; micro- and macro-follicles lined with low-grade cells; colloid-like material present in >50% of follicles; thy...
Journal of medical genetics.Armstrong R, Greenhalgh KL, Rattenberry E, et al. Succinate dehydrogenase subunit B (SDHB) gene deletion associated with a composite paraganglioma/neuroblastoma. J Med Genet 2009;46(3):215-16.Armstrong R, Greenhalgh KL, Rattenberry E, et al. Succinate dehydrogenase ...
(PGL)andtoprovidethebasisforfurtherstudyofmoleculardiagnosisandmoleculargeneticsofPGL.Methods:Eightspo-radicPGLcasesandonefamilialPGLcasewithcompleteclinicalandpathologicaldatawerecollected.AllofthemwerepreliminarilydiagnosedinourhospitalduingApril2006andDecember2007.Wealsocollectedbloodsamplesfrom18nor-malpeopleand4...