期刊文献+

PTEN基因突变与常染色体显性遗传性错构瘤综合征

下载PDF
导出
摘要 本文概括介绍了PTEN基因种系突变与人类常染色体显性遗传性错构瘤综合征及相关疾 病的关系,重点介绍了CS、BRRS、PS及PS-like,并对PTEN基因分子诊断的未来进行了展望。
出处 《国外医学(遗传学分册)》 2004年第3期172-174,共3页 Foreign Medical Sciences(Section of Genetics )
  • 相关文献

参考文献16

  • 1Lublin M, Schwartzentruber DJ, Lukish J, et al. Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteria. J Pediatr Surg 2002 ,37(7) :1013-1020.
  • 2Marsh DJ, Coulon V, Lunetta KL, et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome,two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 19
  • 3Fistarol SK, Anliker MD, Itin PH. Cowden disease or multiple hamartoma syndrome-cutaneous clue to internal malignancy. Eur J Dermatol, 2002,12 )5 ): 411-421.
  • 4Nelen MR, Padberg GW, Peeters EAJ, et al. Localization of the gene for Cowden disease to 10q22-23. Nat Genet 1996, 13: 114-116.
  • 5Fackenthal J, Marsh DJ, Richardson AL, et al. Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet 2001, 38: 159-164.
  • 6Marsh DJ, Caron S, Dahia PLM, et al. Germline PTEN mutations in Cowden syndrome-like families. J Med Genet 1998, 35: 881-885.
  • 7De Vivo I, Gertig D, Nagase S, et al. Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers. J Med Genet 2000, 37: 336-341.
  • 8Zhou XP, Hampel H, Thiele H, et al. Assocication of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteuslike syndromes. The Lancet 2001, 358(7 ): 210-211.
  • 9Biesecker LG, Happle R, Mulliken JB, et al. Protens Syndrome: diagnostic criteria, differential diagnosis and patient evaluation. Am J Med Genet 1999,84:389-395.
  • 10Li J, Yen C, Liaw D, et al. PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast and prostate cancer.Science, 1997, 275:1943-1947.

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部