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Volumn 6, Issue 5, 2002, Pages 293-297

An update on clinically applicable diagnostic criteria in Rett syndrome: Comments to Rett syndrome clinical criteria consensus panel satellite to European Paediatric Neurology Society Meeting Baden Baden, Germany, 11 September 2001

Author keywords

[No Author keywords available]

Indexed keywords

CHILD; CLINICAL FEATURE; CONFERENCE PAPER; DIAGNOSTIC TEST; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; PRACTICE GUIDELINE; PRIMARY MEDICAL CARE; PRIORITY JOURNAL; RETT SYNDROME;

EID: 0037002625     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.2002.0612     Document Type: Conference Paper
Times cited : (354)

References (12)
  • 1
    • 0035015196 scopus 로고    scopus 로고
    • Guidelines for reporting clinical features in cases with MECP2 mutations
    • Kerr AM, Nomura Y, Armstrong D, et al. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev, 2001 23: 208-211.
    • (2001) Brain Dev. , vol.23 , pp. 208-211
    • Kerr, A.M.1    Nomura, Y.2    Armstrong, D.3
  • 2
    • 0014011176 scopus 로고
    • Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter
    • Rett A. Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter. Wien Med Wochenschr, 1966 116: 723-726.
    • (1966) Wien Med Wochenschr , vol.116 , pp. 723-726
    • Rett, A.1
  • 3
    • 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
  • 5
    • 0023888966 scopus 로고
    • Diagnostic criteria for Rett syndrome
    • Anonymous. The Rett Syndrome Diagnostic Criteria Work Group
    • Anonymous. Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. Ann Neurol, 1988 23: 425-428.
    • (1988) Ann. Neurol. , vol.23 , pp. 425-428
  • 6
    • 0028111560 scopus 로고
    • Rett variants: A suggested model for inclusion criteria
    • Hagberg BA, Skjeldal OH. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol, 1994 11: 5-11.
    • (1994) Pediatr. Neurol. , vol.11 , pp. 5-11
    • Hagberg, B.A.1    Skjeldal, O.H.2
  • 9
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir R, Van den Veyver I, Wan M, Tran C, Francke U, Zoghbi H. 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.1    Van den Veyver, I.2    Wan, M.3    Tran, C.4    Francke, U.5    Zoghbi, H.6
  • 10
    • 0033646967 scopus 로고    scopus 로고
    • Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations
    • Amir R, Zoghbi H. Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet, 2000 97: 147-152.
    • (2000) Am. J. Med. Genet. , vol.97 , pp. 147-152
    • Amir, R.1    Zoghbi, H.2
  • 11
    • 0035196477 scopus 로고    scopus 로고
    • Rett syndrome: Clinical correlates of the newly discovered gene
    • Percy AK. Rett syndrome: clinical correlates of the newly discovered gene. Brain Dev, 2001 23 (Suppl 1): S202-205.
    • (2001) Brain Dev. , vol.23 , Issue.SUPPL. 1
    • Percy, A.K.1
  • 12
    • 0034701904 scopus 로고    scopus 로고
    • Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
    • Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet, 2000 9: 1369-1375.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1369-1375
    • Huppke, P.1    Laccone, F.2    Kramer, N.3    Engel, W.4    Hanefeld, F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.