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新生儿色素失禁症临床特点分析 被引量:6

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出处 《临床荟萃》 CAS 2010年第19期1711-1712,F0002,共3页 Clinical Focus
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参考文献13

  • 1Landy SJ,Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome)[J]. J Med Genet, 1993,30 (1) : 53-59.
  • 2孙东信.色素失禁症38例分析[J].中华皮肤科杂志,1996,29(1):15-17. 被引量:14
  • 3Hadj-Rabia S, Froidevaux D, Bodak N, et al. Clinical study of 40 cases of incontinentia pigmeti[J]. Arch Demato, 2003,139 (9) : 1163-1170.
  • 4李莉,宋国维,徐放生,袁新宇,李晓雁,解湘陵,杜军保.色素失禁症15例临床研究[J].中国实用儿科杂志,2005,20(8):472-474. 被引量:19
  • 5Berlin Al, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology[J]. J Am Acad Dermatol, 2002,47(2) : 169-190.
  • 6杨斌,徐广珍.儿童色素失禁症临床特点研究[J].中国优生与遗传杂志,2009,17(3):126-127. 被引量:4
  • 7Hennel SJ, Ekert PG, Volpe JJ, et al. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti[J]. Pediatr Neurol,2003,29(2) :148-150.
  • 8Holmstrom G, Thoten K. Ocular manifestations of incontinentia pigmenti[J]. Acta Ophthalmol Scand, 2000, 78 (3) :348-353.
  • 9Goldberg MF. Macular vasculopathy and its evolution in incontinentia pigmenti [J]. Ophthalmic Genet, 1998, 19 ( 3 ): 141-148.
  • 10Jin DY, Jeang KT. Isolation of full-length cDNA and chromosomal localization of human NF-kB modulator NEMO to Xq28[J]. J Biomed Sci, 1999,6(2): 115-120.

二级参考文献26

  • 1李莉,宋国维,徐放生,袁新宇,李晓雁,解湘陵,杜军保.色素失禁症15例临床研究[J].中国实用儿科杂志,2005,20(8):472-474. 被引量:19
  • 2Hadj - Rabia S, Froidevaux D, Bodak N, et al. Clinical study of 40 cases of incontinentia pigmeti [ J ]. Arch Demato, 2003,139:1163 - 1170.
  • 3Berlin Al, Paller AS, Chan LS. Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology [ J ]. J Am Acad Dermatol,2002,47 : 169 - 190.
  • 4Fiorillo L, Sincalair DB, O'Byrne ML, et al. Bilateral eerebrovaseular accidents in incontinentia pigmenti [ J ]. Pediatr Neurol, 2003,29:66 -68.
  • 5Jin DY, Jeang KT. Isolation of full - length cDNA and chromosomal localization of human NF - kB modulator NEMO to Xq28 [ J]. J biomed Sci,1999,6:115 - 120.
  • 6Fusco F, Bardaro T, Fimiani G, et al. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF - kB activation [ J ]. Hum Mol Genet,2004,13 (16) : 1763 - 1773.
  • 7Zonana J, Elder ME, Schneider LC,et al. A novel X - linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK - gamma (NEMO) [J]. Am J Hum Genet,2000,67:1555 - 1562.
  • 8Hadj-Rabia S, Froidevaux D, Bodak N, et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol, 2003, 139 : 1163-1170.
  • 9Markris C, Roberts JL, Karin M. The carboxyl-terminal region of IкB kinase gamma (1KKγ) is required for full IKK activation. Mol Cell Biol, 2002, 22: 6573-6581.
  • 10Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKKγ) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet, 2001,10: 2171-2179.

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