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Volumn 18, Issue 2, 2009, Pages 78-82

Two brothers with a microduplication including the MECP2 gene: Rapid head growth in infancy and resolution of susceptibility to infection

Author keywords

[No Author keywords available]

Indexed keywords

DIPHTHERIA ANTIBODY; GENOMIC DNA; INTERLEUKIN 1 RECEPTOR ASSOCIATED KINASE 1; METHYL CPG BINDING PROTEIN 2;

EID: 66149101718     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32831e19cd     Document Type: Article
Times cited : (26)

References (12)
  • 1
    • 0026678490 scopus 로고
    • Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992). Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 6
    • 23944509593 scopus 로고    scopus 로고
    • Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome
    • Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, et al. (2005). Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet 42:e12.
    • (2005) J Med Genet , vol.42
    • Meins, M.1    Lehmann, J.2    Gerresheim, F.3    Herchenbach, J.4    Hagedorn, M.5    Hameister, K.6
  • 9
    • 0036306870 scopus 로고    scopus 로고
    • Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders
    • Plenge RM, Stevenson RA, Lubs HA, Schwartz CE,Willard HF (2002). Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. Am J Hum Genet 71: 1687-11173
    • (2002) Am J Hum Genet , vol.71 , pp. 1687-11173
    • Plenge, R.M.1    Stevenson, R.A.2    Lubs, H.A.3    Schwartz, C.E.4    Willard, H.F.5
  • 10
    • 22544451204 scopus 로고    scopus 로고
    • A novel splice variant of interleukin-1 receptor (IL-1R)-Associated kinase 1 plays a negative regulatory role in Toll/IL-1R-induced inflammatory signaling
    • DOI 10.1128/MCB.25.15.6521-6532.2005
    • Rao N, Nguygen S, Ngo K, Fung-Leung W-P (2005). A novel splice variant of interlekuin-1 receptor (IL-1R)-associated kinase 1 plays a negative regulatory role in Toll/IL-induced inflammatory signaling. Mol Cel Biol 25:6521-6532. (Pubitemid 41023227)
    • (2005) Molecular and Cellular Biology , vol.25 , Issue.15 , pp. 6521-6532
    • Rao, N.1    Nguyen, S.2    Ngo, K.3    Fung-Leung, W.-P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.