메뉴 건너뛰기




Volumn 7, Issue 6, 2011, Pages 312-314

Clinical criteria for Rett syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CDKL5 GENE; CLINICAL CLASSIFICATION; CLINICAL GENETICS; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DEVELOPMENTAL GENE; DIAGNOSTIC REASONING; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; EPILEPSY; FOXG1 GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; METHYL CPG BINDING PROTEIN 2 GENE; MOLECULAR GENETICS; PRACTICE GUIDELINE; PRIORITY JOURNAL; RETT SYNDROME; SEX DIFFERENCE; GENETICS; MUTATION; PHENOTYPE;

EID: 79958232022     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2011.64     Document Type: Article
Times cited : (13)

References (11)
  • 1
    • 0023888966 scopus 로고
    • Diagnostic criteria for Rett syndrome: The Rett Syndrome Diagnostic Criteria Work Group
    • [No authors listed]
    • [No authors listed] Diagnostic criteria for Rett syndrome: The Rett Syndrome Diagnostic Criteria Work Group. Ann. Neurol. 23, 425-428 (1988).
    • (1988) Ann. Neurol. , vol.23 , pp. 425-428
  • 3
    • 78650914440 scopus 로고    scopus 로고
    • Rett syndrome diagnostic criteria: Lessons from the Natural History Study
    • Percy, A. K., et al. Rett syndrome diagnostic criteria: lessons from the Natural History Study. Ann. Neurol. 68, 951955 (2010).
    • (2010) Ann. Neurol. , vol.68 , pp. 951-955
    • Percy, A.K.1
  • 4
    • 78650903501 scopus 로고    scopus 로고
    • Rett syndrome: Revised diagnostic criteria and nomenclature
    • Neul, J. L., et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann. Neurol. 68, 944950 (2010).
    • (2010) Ann. Neurol. , vol.68 , pp. 944-950
    • Neul, J.L.1
  • 5
    • 54949090865 scopus 로고    scopus 로고
    • Key clinical features to identify girls with CDKL5 mutations
    • Bahi-Buisson, N., et al. Key clinical features to identify girls with CDKL5 mutations. Brain 131, 2647-2661 (2008).
    • (2008) Brain , vol.131 , pp. 2647-2661
    • Bahi-Buisson, N.1
  • 6
    • 77954658447 scopus 로고    scopus 로고
    • Revisiting the phenotype associated with FOXG1 mutations: Two novel cases of congenital Rett variant
    • Bahi-Buisson, N., et al. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 11, 241-249 (2010).
    • (2010) Neurogenetics , vol.11 , pp. 241-249
    • Bahi-Buisson, N.1
  • 7
    • 78651298187 scopus 로고    scopus 로고
    • Congenital Rett syndrome variants: Swedish experience through four decades and mutation analysis
    • Rajaei, S., et al. Early infantile onset congenital Rett syndrome variants: Swedish experience through four decades and mutation analysis. J. Child. Neurol. 26, 6571 (2011).
    • (2011) J. Child. Neurol. , vol.26 , pp. 65-71
    • Rajaei, S.1    Early Infantile Onset, E.2
  • 8
    • 78650306582 scopus 로고    scopus 로고
    • Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes
    • Temudo, T., et al. Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. Brain Dev. 33, 6976 (2011).
    • (2011) Brain Dev. , vol.33 , pp. 69-76
    • Temudo, T.1
  • 9
    • 34447297311 scopus 로고    scopus 로고
    • MECP2 mutations in males
    • DOI 10.1136/jmg.2007.049452
    • Villard, L. MECP2 mutations in males. J. Med. Genet. 44, 417-423 (2007). (Pubitemid 47056866)
    • (2007) Journal of Medical Genetics , vol.44 , Issue.7 , pp. 417-423
    • Villard, L.1
  • 11
    • 33744731756 scopus 로고    scopus 로고
    • Identification of cis-regulatory elements for MECP2 expression
    • DOI 10.1093/hmg/ddl099
    • Liu, J. & Francke, U. Identification of cis- regulatory elements for MECP2 expression. Hum. Mol. Genet. 15, 1769-1782 (2006). (Pubitemid 43821767)
    • (2006) Human Molecular Genetics , vol.15 , Issue.11 , pp. 1769-1782
    • Liu J.Jinglan1    Francke, U.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.