메뉴 건너뛰기




Volumn 149, Issue 2, 2009, Pages 199-205

Rett syndrome and long-term disorder profile

Author keywords

Disorder profile; MECP2; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

EID: 59849090408     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32491     Document Type: Article
Times cited : (24)

References (18)
  • 1
    • 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 Veyer I, Wan M, Tran C, 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.1    Van den Veyer, I.2    Wan, M.3    Tran, C.4    Francke, U.5    Zoghbi, H.Y.6
  • 5
    • 0037002625 scopus 로고    scopus 로고
    • 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
    • Hagberg B, Hanefeld F, Percy A, Skjeldal O. 2002. 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. Eur J Paediatr Neurol 6:293-297.
    • (2002) Eur J Paediatr Neurol , vol.6 , pp. 293-297
    • Hagberg, B.1    Hanefeld, F.2    Percy, A.3    Skjeldal, O.4
  • 8
    • 0034701904 scopus 로고    scopus 로고
    • Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
    • Huppke P, Laccone F, Krämer N, Engel W, Hanefeld F. 2000. Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Gen 9:1369-1375.
    • (2000) Hum Mol Gen , vol.9 , pp. 1369-1375
    • Huppke, P.1    Laccone, F.2    Krämer, N.3    Engel, W.4    Hanefeld, F.5
  • 9
    • 0036083275 scopus 로고    scopus 로고
    • Influence of mutation type and location on phenotype in 123 patients with Rett syndrome
    • Huppke P, Held M, Hanefeld F, Engel W, Laccone F. 2002. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 33:63-68.
    • (2002) Neuropediatrics , vol.33 , pp. 63-68
    • Huppke, P.1    Held, M.2    Hanefeld, F.3    Engel, W.4    Laccone, F.5
  • 12
  • 13
    • 0042905824 scopus 로고    scopus 로고
    • Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome
    • Schollen E, Smeets E, Deflem E, Fryns J-P, Matthijs G. 2003. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome. Hum Mutat 22:116-120.
    • (2003) Hum Mutat , vol.22 , pp. 116-120
    • Schollen, E.1    Smeets, E.2    Deflem, E.3    Fryns, J.-P.4    Matthijs, G.5
  • 16
    • 0041896827 scopus 로고    scopus 로고
    • Spectrum of MECP2 mutations in Rett syndrome
    • Sung Jae Lee S, Wan M, Francke U. 2001. Spectrum of MECP2 mutations in Rett syndrome. Brain Dev 23:S138-S143.
    • (2001) Brain Dev , vol.23
    • Sung1    Jae Lee, S.2    Wan, M.3    Francke, U.4
  • 18
    • 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.