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Volumn 61, Issue 5, 2002, Pages 384-385

MECP2 mutations in Swedish Rett syndrome clusters [1]

Author keywords

[No Author keywords available]

Indexed keywords

DNA; METHYL CPG BINDING PROTEIN 2;

EID: 0036590316     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610512.x     Document Type: Letter
Times cited : (4)

References (12)
  • 1
    • 0002048267 scopus 로고
    • Clinical criteria, stages and natural history
    • Hagberg B, ed. Cambridge: MacKeith Press
    • Hagberg B. Clinical criteria, stages and natural history. In: Hagberg B, ed. Rett syndrome - clinical and biological aspects. Cambridge: MacKeith Press, 1993: 4-20.
    • (1993) Rett Syndrome - Clinical and Biological Aspects , pp. 4-20
    • Hagberg, B.1
  • 2
    • 0020507697 scopus 로고
    • A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
    • Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 1983: 14: 471-479.
    • (1983) Ann. Neurol. , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 6
    • 0029743746 scopus 로고    scopus 로고
    • Rett syndrome, classical and atypical: Genealogical support for common origin
    • Akesson HO, Hagberg B, Wahlstrom J. Rett syndrome, classical and atypical: genealogical support for common origin. J Med Genet 1996: 33: 764-766.
    • (1996) J. Med. Genet. , vol.33 , pp. 764-766
    • Akesson, H.O.1    Hagberg, B.2    Wahlstrom, J.3
  • 7
    • 0031455742 scopus 로고    scopus 로고
    • Rett syndrome: The Swedish Genealogic Research Project. New data and present position
    • Akesson HO. Rett syndrome: the Swedish Genealogic Research Project. New data and present position. Eur Child Adolesc Psychiatry 1997: 6: 96-98.
    • (1997) Eur. Child Adolesc. Psychiatry , vol.6 , pp. 96-98
    • Akesson, H.O.1
  • 8
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999: 23: 185-188.
    • (1999) Nat. Genet. , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 11
    • 0034931813 scopus 로고    scopus 로고
    • Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: Implications for the disease
    • Villard L, Levy N, Xiang F, Kpebe A, Labelle V, Chevillard C, et al. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. J Med Genet 2001: 38: 435-442.
    • (2001) J. Med. Genet. , vol.38 , pp. 435-442
    • Villard, L.1    Levy, N.2    Xiang, F.3    Kpebe, A.4    Labelle, V.5    Chevillard, C.6
  • 12
    • 18144443930 scopus 로고    scopus 로고
    • Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
    • Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, et al. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet 2000: 9: 1119-1129.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1119-1129
    • Cheadle, J.P.1    Gill, H.2    Fleming, N.3    Maynard, J.4    Kerr, A.5    Leonard, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.