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Volumn 56, Issue 2, 2007, Pages 264-267

Clinical diagnosis of incontinentia pigmenti in a cohort of male patients

Author keywords

[No Author keywords available]

Indexed keywords

I KAPPA B KINASE GAMMA;

EID: 33846071480     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2006.09.019     Document Type: Article
Times cited : (69)

References (9)
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    • Incontinentia pigmenti (Bloch-Sulzberger syndrome)
    • Landy S.J., and Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 30 (1993) 53-59
    • (1993) J Med Genet , vol.30 , pp. 53-59
    • Landy, S.J.1    Donnai, D.2
  • 2
    • 4444311888 scopus 로고    scopus 로고
    • Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation
    • Fusco F., Bardaro T., Fimiani G., Mercadante V., Miano M.G., Falco 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-kappaB activation. Hum Mol Genet 13 (2004) 1763-1773
    • (2004) Hum Mol Genet , vol.13 , pp. 1763-1773
    • Fusco, F.1    Bardaro, T.2    Fimiani, G.3    Mercadante, V.4    Miano, M.G.5    Falco, G.6
  • 3
    • 0034713270 scopus 로고    scopus 로고
    • Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
    • Smahi A., Courtois G., Vabres P., Yamaoka S., Heuertz S., Munnich A., et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 405 (2000) 466-472
    • (2000) Nature , vol.405 , pp. 466-472
    • Smahi, A.1    Courtois, G.2    Vabres, P.3    Yamaoka, S.4    Heuertz, S.5    Munnich, A.6
  • 4
    • 0035093630 scopus 로고    scopus 로고
    • X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
    • Doffinger R., Smahi A., Bessia C., Geissmann F., Feinberg J., Durandy A., et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 27 (2001) 277-285
    • (2001) Nat Genet , vol.27 , pp. 277-285
    • Doffinger, R.1    Smahi, A.2    Bessia, C.3    Geissmann, F.4    Feinberg, J.5    Durandy, A.6
  • 5
    • 0028127041 scopus 로고
    • Ectodermal dysplasias: a clinical classification and a causal review
    • Pinheiro M., and Freire-Maia N. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 53 (1994) 153-162
    • (1994) Am J Med Genet , vol.53 , pp. 153-162
    • Pinheiro, M.1    Freire-Maia, N.2
  • 7
    • 0037226450 scopus 로고    scopus 로고
    • Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma gene deletion
    • Bardaro T., Falco G., Sparago A., Mercadante V., Gean Molins E., Tarantino E., et al. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma gene deletion. Hum Mutat 21 (2003) 8-11
    • (2003) Hum Mutat , vol.21 , pp. 8-11
    • Bardaro, T.1    Falco, G.2    Sparago, A.3    Mercadante, V.4    Gean Molins, E.5    Tarantino, E.6
  • 8
    • 0035205331 scopus 로고    scopus 로고
    • Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
    • Kenwrick S., Woffendin H., Jakins T., Shuttleworth S.G., Mayer E., Greenhalgh L., et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet 69 (2001) 1210-1217
    • (2001) Am J Hum Genet , vol.69 , pp. 1210-1217
    • Kenwrick, S.1    Woffendin, H.2    Jakins, T.3    Shuttleworth, S.G.4    Mayer, E.5    Greenhalgh, L.6
  • 9
    • 0034596477 scopus 로고    scopus 로고
    • Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
    • Clayton-Smith J., Watson P., Ramsden S., and Black G.C. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet 356 (2000) 830-832
    • (2000) Lancet , vol.356 , pp. 830-832
    • Clayton-Smith, J.1    Watson, P.2    Ramsden, S.3    Black, G.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.