메뉴 건너뛰기




Volumn 119 B, Issue 1, 2003, Pages 102-107

Study of MECP2 gene in Rett syndrome variants and autistic girls

Author keywords

Mild mental retardation; Preserved speech variant; PSV; RTT

Indexed keywords

ADOLESCENT; ARTICLE; AUTISM; CHILD; CHILD BEHAVIOR; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE COURSE; FEMALE; FOLLOW UP; GENE; GENE MUTATION; HUMAN; INTELLIGENCE QUOTIENT; MECP2 GENE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; RETT SYNDROME; SPEECH DISORDER; X CHROMOSOME LINKAGE;

EID: 0041819548     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (73)

References (30)
  • 2
    • 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. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 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
  • 5
    • 0033646567 scopus 로고    scopus 로고
    • Diagnostic testing for rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms
    • Buyse I, Fang P, Hoon K, Amir RE, Zoghbi HY, Roa BB. 2000. Diagnostic testing for rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: Identification of several novel mutations and polymorphisms. Am J Hum Genet 67:1428-1436.
    • (2000) Am J Hum Genet , vol.67 , pp. 1428-1436
    • Buyse, I.1    Fang, P.2    Hoon, K.3    Amir, R.E.4    Zoghbi, H.Y.5    Roa, B.B.6
  • 8
    • 0022527714 scopus 로고
    • Autism and Rett syndrome: Some notes on differential diagnosis
    • Gillberg C. 1986. Autism and Rett syndrome: Some notes on differential diagnosis. Am J Med Genet (Suppl) 1:127-131.
    • (1986) Am J Med Genet (Suppl) , vol.1 , pp. 127-131
    • Gillberg, C.1
  • 10
    • 0028111560 scopus 로고
    • Rett variants: A suggested model for inclusion criteria
    • Hagberg BA, Skjeldal OH. 1994. Rett variants: A suggested model for inclusion criteria. Pediatr Neurol 11:5-11.
    • (1994) Pediatr Neurol , vol.11 , pp. 5-11
    • Hagberg, B.A.1    Skjeldal, O.H.2
  • 11
    • 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. 1983. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases. Ann Neurol 14:471-479.
    • (1983) Ann Neurol , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 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. 2000. Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 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
  • 13
    • 0003204471 scopus 로고
    • Autism screening instrument for educational planning: Background and development
    • Gilliard J, editor. Austin: University of Texas
    • Krug DA, Arick JR, Almond PJ. 1979. Autism screening instrument for educational planning: Background and development. In: Gilliard J, editor. Autism: Diagnosis, instruction, management and research. Austin: University of Texas.
    • (1979) Autism: Diagnosis, Instruction, Management and Research
    • Krug, D.A.1    Arick, J.R.2    Almond, P.J.3
  • 16
    • 0035076360 scopus 로고    scopus 로고
    • MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
    • Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N. 2001. MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. Eur J Hum Genet 9:178-184.
    • (2001) Eur J Hum Genet , vol.9 , pp. 178-184
    • Nielsen, J.B.1    Henriksen, K.F.2    Hansen, C.3    Silahtaroglu, A.4    Schwartz, M.5    Tommerup, N.6
  • 19
    • 0014011176 scopus 로고
    • Ueber ein eigenartiges hirnatrophisches syndrom bei hyperammonaemie im kindesalter
    • Rett A. 1966. Ueber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonaemie im Kindesalter. Wien Med Wochenschrift 116:723-726.
    • (1966) Wien Med Wochenschrift , vol.116 , pp. 723-726
    • Rett, A.1
  • 20
    • 0018854085 scopus 로고
    • Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS)
    • Schopler E, Reichler RJ, De Vellis R, Daly K. 1980. Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). J Autism Dev Disord 10:91-103.
    • (1980) J Autism Dev Disord , vol.10 , pp. 91-103
    • Schopler, E.1    Reichler, R.J.2    De Vellis, R.3    Daly, K.4
  • 21
    • 0023888966 scopus 로고
    • Diagnostic criteria for Rett syndrome
    • The Rett Syndrome Diagnostic Criteria Work Group. 1988. Diagnostic Criteria for Rett Syndrome. Ann Neurol 23:425-428.
    • (1988) Ann Neurol , vol.23 , pp. 425-428
  • 22
    • 0034756354 scopus 로고    scopus 로고
    • Social facilitation of object-oriented hand use in a Rett syndrome variant girl: Implications for partial preservation of an hypothesized specialized cerebral network
    • Umansky R, Watson J, Painter K, Hoffbuhr K, Devaney J, Hoffman E. 2001. Social facilitation of object-oriented hand use in a Rett syndrome variant girl: Implications for partial preservation of an hypothesized specialized cerebral network. J Dev Behav Pediatr 22:119-122.
    • (2001) J Dev Behav Pediatr , vol.22 , pp. 119-122
    • Umansky, R.1    Watson, J.2    Painter, K.3    Hoffbuhr, K.4    Devaney, J.5    Hoffman, E.6
  • 27
    • 0025553820 scopus 로고
    • Autistic features in children affected by cerebral gigantism
    • Zappella M. 1990. Autistic features in children affected by cerebral gigantism. Brain Dysfunction 3:241-244.
    • (1990) Brain Dysfunction , vol.3 , pp. 241-244
    • Zappella, M.1
  • 28
    • 0026680995 scopus 로고
    • The Rett girls with preserved speech
    • Zappella M. 1992. The Rett girls with preserved speech. Brain and Development 14:98-101.
    • (1992) Brain and Development , vol.14 , pp. 98-101
    • Zappella, M.1
  • 29
    • 0032406038 scopus 로고    scopus 로고
    • The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases
    • Zappella M, Gillberg C, Ehlers S. 1998. The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases. J Autism Dev Disord 28:519-526.
    • (1998) J Autism Dev Disord , vol.28 , pp. 519-526
    • Zappella, M.1    Gillberg, C.2    Ehlers, S.3
  • 30
    • 0035889272 scopus 로고    scopus 로고
    • Preserved speech variants of the Rett syndrome: Molecular and clinical analysis
    • Zappella M, Meloni I, Longo I, Hayek G, Renieri A. 2001. Preserved speech variants of the Rett syndrome: Molecular and clinical analysis. Am J Med Genet 104:14-22.
    • (2001) Am J Med Genet , vol.104 , pp. 14-22
    • Zappella, M.1    Meloni, I.2    Longo, I.3    Hayek, G.4    Renieri, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.