期刊文献+

Ⅰ型和Ⅱ型复合型神经纤维瘤病一例 被引量:2

原文传递
导出
摘要 神经纤维瘤病(neurofibromatosis,NF)是一种主要由常染色体显性遗传引起的疾病,包括多种基因病变。NF可分为Ⅰ型、Ⅱ型和神经鞘膜瘤病三种。其中Ⅰ型NF相对较多见,Ⅱ型较少见,神经鞘膜瘤病罕见。Ⅰ型和Ⅱ型复合型神经纤维瘤病也较为少见。本文介绍一例Ⅰ型合并Ⅱ型的神经纤维瘤病病例。
出处 《中华耳鼻咽喉头颈外科杂志》 CAS CSCD 北大核心 2008年第7期544-545,共2页 Chinese Journal of Otorhinolaryngology Head and Neck Surgery
基金 北京科技新星计划(2006B53)
  • 相关文献

参考文献8

  • 1Neurofibromatosis. Cmfference statement. National Institutes of Health Consensus Development Conference. Arch Neurol, 1988, 45:575-578.
  • 2Walker L, Thompson D, Easton D, et al. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer, 2006, 95:233-238.
  • 3Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. Am J Med Genet, 1996, 66:7-10.
  • 4Kanter R J, Graham M, Fairbrother D, et al. Sudden cardiac death in young children with neurofibromatosis type 1. J Pediatr, 2006, 149:718-720.
  • 5Tang SC, Lee MJ, Jeng JS, et al. Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke. J Neurol Sci, 2006, 243:53-55.
  • 6Li Y, O'Connell P, Breidenbach HH, et al. Genomic organization of the neurofibromatosis 1 gene ( NF1 ). Genomics, 1995, 25 : 9-18.
  • 7Evans DG, Moran A, King A, et al. Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol, 2005, 26:93-97.
  • 8Parry DM, Eldridge R, Kaiser-Kupfer MI, et al. Neurofibromatosis 2 (NF2) : clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet, 1994, 52:450-461.

同被引文献20

  • 1郑敏,陈晓滨,刘绍泉,郭林虹.多发性神经纤维瘤病一家系五例[J].中华医学遗传学杂志,2004,21(5):536-536. 被引量:8
  • 2李吉友,朱昌仁.五例恶性“蝾螈”瘤的病理及免疫组化研究[J].中华病理学杂志,1989,18(2):146-147. 被引量:10
  • 3许彪,王卫红,黎明,张立亚.颌面部巨大神经纤维瘤的外科治疗[J].华西口腔医学杂志,2005,23(5):449-450. 被引量:6
  • 4Mackool BT,Fitzpatrick TB.Diagnosis of neurofibromatosis by cutaneous examination[J].Semin Neurol, 1992, 2(4).. 358-362.
  • 5Mulvihill JJ,Parry DM,Sherman JL,et al.Neurofibromatosis 1 (Recklinghausen disease) and Neurofibromatosis 2(Bilateral acoustic Neurofibromatosis) [J].Ann Item Med, 1990,113:39.
  • 6Gotfried ON, Viskochil DH, Fuhs DW, et al .Molecular, genetic, and cellular pathogenesis of neurofibromatosis and surgical implications [J].Neurosurgery,2006,58:1-6.
  • 7Huynh DP,Nechiporuk T,Pulst SM,et al.Alternative transcripts in the mouse neurofibromatosis type 2 (NF2)gene are conserved and code for schwannomins with distinct C-terminal domains [J].Hum Mo Genet,1994, 3(7): 1075-1079.
  • 8Cunha KS, Barboza EP,Da Fonseca EC.Identification of growth hormone receptor in localised neurofibromas of patients with neurofibromatosis type 1 [J].J Clin Pathol, 2003,56:758-753.
  • 9Margaret E,Mc Laughlin,Tyler Jacks. Progesterone receptor expression in neurofibromas [J].Cancer Res,2003,63:752-755.
  • 10Kurien A, John PR,Milford DV. Hypertention secondary to progressive vascular Neurofibromatosis [J]. Arch Dis Child,1997,76 (5):454-455.

引证文献2

二级引证文献17

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