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大疱性表皮松解症 被引量:1

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作者 靳培英
机构地区 中国医学科学院
出处 《中华皮肤科杂志》 CAS CSCD 北大核心 2004年第10期621-624,共4页 Chinese Journal of Dermatology
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参考文献22

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  • 3Fine JD, Eady RA, Bauer EA, et al. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.J Am Acad Dermatol, 2000, 42: 1051-1066.
  • 4赵辨,靳培英,葛以信,等主编.皮肤病彩色图谱.江苏:江苏科学技术出版社,1995.206.
  • 5Mallory SB, Leal-Khouri S. An Illustrated Dictionary of Dermatologic Syndromes. New York: Parthenon Pub, 1994. 70-74.
  • 6Weedon D, Strutton G. Skin Pathology. 2nd ed. Edinburgh: Churchill Livingstone, 2002.138-148.
  • 7Wojnarowska F, Eady RA, Burge SM. Bullous eruptions. In: Champion RH, et al.eds. Textbook of Dermatology. Vol 3. 6th ed. Oxford:Blackwell Science Ltd, 1998.1817-1844.
  • 8吴安,李冠群,朱学骏.手足复发型大疱型表皮松解症角蛋白5基因突变位点的检测[J].中华皮肤科杂志,1997,30(4):221-223. 被引量:7
  • 9朱学骏,陈喜雪,李冠群,杨勇,马玲蕾,董慧婷,吴安,谢艳秋.角蛋白相关遗传性皮肤病基因突变的研究进展[J].中华皮肤科杂志,2001,34(5):403-404. 被引量:17
  • 10李冠群,吴安,朱学骏.PCR-DNA直接测序检测1例单纯型大疱性表皮松解症Weber-Cockayne亚型(WC-EBS)患者角蛋白K5基因点突变[J].临床皮肤科杂志,1997,26(4):219-221. 被引量:5

二级参考文献67

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  • 3Fine JD, Bauer EA, Briggaman RA,et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol, 1991, 24( 1 ):119-135.
  • 4Cserhalmi - Friedman PB, Yeboa KA, Christiano AM. DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol, 2001, 26(2):205-207.
  • 5Pulkkinen L, Kurtz K, Xu Y, et al. Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice - site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. Lab Invest, 1997, 76(6) :823 - 833.
  • 6Pulkkinen L, Marinkovich MP, Tran HT, et al. Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic bcnign epidermolysis bullosa. J Invest Dermatol,1999, 113(6):1114- 1118.
  • 7Floeth M, Fiedorowicz J, Shacke H, et al. Novel homozygous and Compound heterozygous COL17al Mutations associated with junctional epidermolysis bullosa. J Invest Dermatol, 1998,11 (3): 528-533.
  • 8Stouthamer A, Nieboer C, Van Der Waal RI, et al. Normal expression of the 19 - DEJ- 1 epitope in two siblings with late - onset junctional epidermolysis bullosa. Br J Dermatol, 2001, 144(5): 1054 - 1057.
  • 9McMillan JR, McGrath JA, Tidman M J, et al. Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa. J Invest Dermatol, 1998, 110(2):132- 137.
  • 10Horiguchi Y, Maruguchi T, Maruguchi Y, et al. Ultrastructural and immunohistochemical characterization of basal cells in three - dimensional culture models of the skin. Arch Dermatol Res, 1994, 286(1):53-61.

共引文献42

同被引文献4

  • 1靳培英.大疱性表皮松解症[J].中华皮肤科杂志,2004,37(9):560-562. 被引量:15
  • 2Salas-Alanis,JC,Amaya-Guerra,M,McGrath,JA.The molecular basis of dystrophic epidermolysis bullosa in Mexico. International Journal of Dermatology . 2000
  • 3Hovnanian A,Rochat A,Bodemer C, et al.Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecrlar mechanisms underlying defective anchoring fibril formation. The American Journal of Human Genetics . 1997
  • 4张学奇,张学军,杨森.营养不良性大疱性表皮松解症的分子遗传学进展[J].国外医学(遗传学分册),2002,25(4):238-242. 被引量:4

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