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孪生兄弟同患Von Hippel-Lindau病

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出处 《中华病理学杂志》 CAS CSCD 北大核心 2005年第11期760-761,共2页 Chinese Journal of Pathology
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参考文献6

  • 1Kim WY, Kaelin WG. Role of VHL gene mutation in human cancer.J Clin Oncol, 2004,22:4991-5004.
  • 2吕建平.Von Hippel-Lindau病[J].国外医学(神经病学.神经外科学分册),2002,29(2):164-167. 被引量:6
  • 3Neumann HP, Wiestler OD. Clustering of features of von Hippel-Lindau syndrom: evidence for a complex genetic locus. Lancet,1991,337 : 1052-1054.
  • 4Prieto R, Roda JM. Hemangioblastoma of the lateral ventricle : case report and review of the literature. Neurocirugia (Astur) ,2005,16 :58-62.
  • 5Ansari MS, Gupta NP, Kumar P. van Hippel-Lindau disease with bilateral multiple renal cell carcinoma managed by fight radical nephrectomy and left repeat partial nephrectomy. Int Urol Nephrol,2003,35:471-473.
  • 6杜林栋,张道新.von Hippel-Lindau病并发肾癌的诊断和治疗[J].中华泌尿外科杂志,2004,25(2):127-129. 被引量:12

二级参考文献29

  • 1Seizinger BR, Rouleaux GA, Ozelius LJ, et al. Von Hippel-lindau maps to the region of chromosome 3 associated with renal cell carcinoma. Nature, 1988, 332(6161): 268-269.
  • 2Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau tumor suppressor gene. Science, 1993, 260(5112): 1317-1320.
  • 3Clifford SC, Cockman ME,Smallwood AC, et al. Contrasting effects on HIF-lalpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel- Lindau disease. Hum Mol Genet, 2001, 10(10): 1029-38.
  • 4Kamura T, Burian D, Yah Q, et al. Mufl, a novel Elongin BC-interacting leucine- rich repeat proteint hat can assemble with Cul5 and Rbx1 to reconstitute a ubiquitin ligase. J Biol Chem, 2001, 276(32): 29748-53.
  • 5Pause A, Lee S, Londergan KM, et al. The von Hippol - Lindau tumor suppressor gene is required for cell cycle exit upon serum withdrawal. Proc. Natl. Acad. Sci. USA, 1998, 95(3): 993-998.
  • 6Ivanov SV, Kuzmin I, Wei MW, et al. Down regulation of transmembrane carbonic anhydrases in renal cell carcinoma lines by wild type von Hippel - Lindau transgenes. Proc. Natl. Acad. Sci. USA, 1998, 95(21): 12596-12601.
  • 7Melmon KL, Rosen SW. Lindau's disease: review of the literature and study of a large kindred. Am J Med, 1964, 36(4): 595-617.
  • 8Lamiell JM, Salazar FG, Hsia YE, et al. Von Hippel-lindau disease affecting 43 members of one kindred. Medicine, 1989, 68(1): 1-29.
  • 9Filling- Katz MR, Choyke PL, Oldfield E, et al. Central nervous system involvement in Von Hippel-lindau disease. Neurology, 1991, 41(1): 41-46.
  • 10Chen MY, Chew EY, Reynolds JC. Metastatic brainstem pheochro-mocytoma in a patient with von Hippel-Lindau disease: Case illustration. J Neurosurg, 2001, 94(1): 138.

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