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Volumn 67, Issue 3 A, 2009, Pages 577-584

Genotype-phenotype correlation in Brazillian Rett syndrome patients

Author keywords

Genotype phenotype correlation; Rett syndrome

Indexed keywords

DNA; METHYL CPG BINDING PROTEIN 2;

EID: 69749099201     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/S0004-282X2009000400001     Document Type: Article
Times cited : (8)

References (30)
  • 1
  • 3
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
    • DOI 10.1038/13810
    • 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;23:185-1158 (Pubitemid 29455390)
    • (1999) Nature Genetics , vol.23 , Issue.2 , 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
  • 4
    • 0033763712 scopus 로고    scopus 로고
    • Rett syndrome: A surprising result of mutation in MECP2
    • Dragich J, Houwink-Manville I, Schanen C. Rett syndrome: a surprising result of mutation in MECP2. Hum Mol Genet 2000; 9:2365-2375. (Pubitemid 30814622)
    • (2000) Human Molecular Genetics , vol.9 , Issue.16 REV. ISS , pp. 2365-2375
    • Dragich, J.1    Houwink-Manville, I.2    Schanen, C.3
  • 7
    • 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. (Pubitemid 30312485)
    • (2000) Human Molecular Genetics , vol.9 , Issue.9 , pp. 1369-1375
    • Huppke, P.1    Laccone, F.2    Kramer, N.3    Engel, W.4    Hanefeld, F.5
  • 8
    • 0023888966 scopus 로고
    • Diagnostic criteria for Rett syndrome
    • The Rett Syndrome Diagnostic Criteria Work Group. Diagnostic criteria for Rett Syndrome. Ann Neurol 1988;23:425-428. (Pubitemid 18098259)
    • (1988) Annals of Neurology , vol.23 , Issue.4 , pp. 425-428
    • Trevathan, E.1    Moser, H.W.2
  • 10
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Ac Res 1988;16:1215.
    • (1988) Nucleic Ac Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes Polesky, H.F.2
  • 12
    • 0025342548 scopus 로고
    • Clinical analysis in nine Brazilian cases of the Rett syndrome
    • Rosemberg S. Clinical analysis in nine Brazilian cases of the Rett syndrome. Brain Dev 1990;12:44-46. (Pubitemid 20119230)
    • (1990) Brain and Development , vol.12 , Issue.1 , pp. 44-46
    • Rosemberg, S.1
  • 13
    • 0035375652 scopus 로고    scopus 로고
    • Estudo retrospectivo e prospectivo de 28 pacientes
    • Bruck I, Antoniuk SA, Halick SMS, et al. Estudo retrospectivo e prospectivo de 28 pacientes. Arq Neuropsiquiatr 2001;59:407-410.
    • (2001) Arq Neuropsiquiatr , vol.59 , pp. 407-410
    • Bruck, I.1    Antoniuk, S.A.2    Halick, S.M.S.3
  • 14
    • 0348148911 scopus 로고    scopus 로고
    • Rett syndrome: Clinical and epidemiological aspects in a Brazilian institution
    • Pozzi CM, Rosemberg S. Rett syndrome: clinical and epidemiological aspects in a Brazilian institution. Arq Neuropsiquiatr 2003;61:909-915. (Pubitemid 38009295)
    • (2003) Arquivos de Neuro-Psiquiatria , vol.61 , Issue.4 , pp. 909-915
    • Pozzi, C.M.1    Rosemberg, S.2
  • 15
    • 0036917867 scopus 로고    scopus 로고
    • Rett syndrome and MeCP2: Linking epigenetics and neuronal function
    • Shahbazian MD, Zoghbi HY. Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet 1997; 71:1259-1272.
    • (1997) Am J Hum Genet , vol.71 , pp. 1259-1272
    • Shahbazian, M.D.1    Zoghbi, H.Y.2
  • 16
    • 84869719687 scopus 로고    scopus 로고
    • Western Sydney Genetics Program, Children's Hospital, Westmead, NSW Australia
    • RettBASE: IRSA MECP2 Variation Database. Western Sydney Genetics Program, Children's Hospital, Westmead, NSW Australia, 2002. URL: http://mecp2.chw.edu. au/mecp2/
    • (2002) RettBASE: IRSA MECP2 Variation Database
  • 17
    • 0009773361 scopus 로고    scopus 로고
    • Towards the genetic basis of Rett syndrome
    • Kerr A, Witt-Engerström I (Eds). New York: Oxford University Press
    • Clarke A, Schanen, Anvret, M. Towards the genetic basis of Rett syndrome. In: Kerr A, Witt-Engerström I (Eds). Rett disorder and the developing brain. New York: Oxford University Press, 2001:27-55.
    • (2001) Rett Disorder and the Developing Brain , pp. 27-55
    • Clarke, A.1    Schanen2    Anvret, M.3
  • 18
    • 0038354500 scopus 로고    scopus 로고
    • The spectrum of phenotypes in females with Rett Syndrome
    • DOI 10.1016/S0387-7604(03)00018-4
    • Huppke P, Held M, Laccone F, Hanefeld F. The spectrum of phenotypes in females with Rett syndrome. Brain Dev 2003; 25:346-351. (Pubitemid 36808984)
    • (2003) Brain and Development , vol.25 , Issue.5 , pp. 346-351
    • Huppke, P.1    Held, M.2    Laccone, F.3    Hanefeld, F.4
  • 19
    • 3442895308 scopus 로고    scopus 로고
    • Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication
    • DOI 10.1002/humu.20065
    • Ariani F, Mari F, Pescucci C, et al. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication. Hum Mutat 2004; 24:172-177. (Pubitemid 39006597)
    • (2004) Human Mutation , vol.24 , Issue.2 , pp. 172-177
    • Ariani, F.1    Mari, F.2    Pescucci, C.3    Longo, I.4    Bruttini, M.5    Meloni, I.6    Hayek, G.7    Rocchi, R.8    Zappella, M.9    Renieri, A.10
  • 20
    • 33746356840 scopus 로고    scopus 로고
    • Rett syndrome: New clinical and molecular insights
    • DOI 10.1038/sj.ejhg.5201580, PII 5201580
    • Williamson S, Christodoulou J. Rett syndrome: new clinical and molecular insights. Eur J Hum Genet 2006;14:896-903. (Pubitemid 44111626)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.8 , pp. 896-903
    • Williamson, S.L.1    Christodoulou, J.2
  • 22
    • 17744401131 scopus 로고    scopus 로고
    • Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation
    • Yamada Y, Miura K, Kumagai T, et al. Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation. Hum Mutat 2001;18:253.
    • (2001) Hum Mutat , vol.18 , pp. 253
    • Yamada, Y.1    Miura, K.2    Kumagai, T.3
  • 23
    • 0036120178 scopus 로고    scopus 로고
    • Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome
    • Chae JH, Hwang YS, Kim KJ. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. J Child Neurol 2002;17:33-36. (Pubitemid 34406884)
    • (2002) Journal of Child Neurology , vol.17 , Issue.1 , pp. 33-36
    • Chae, J.H.1    Hwang, Y.S.2    Kim, K.J.3
  • 24
    • 0036083275 scopus 로고    scopus 로고
    • Influence of mutation type and location on phenotype in 123 patients with Rett syndrome
    • DOI 10.1055/s-2002-32365
    • Hupke P, Held M, Hanefeld F et al. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 2002;33:63-68. (Pubitemid 34654317)
    • (2002) Neuropediatrics , vol.33 , Issue.2 , pp. 63-68
    • Huppke, P.1    Held, M.2    Hanefeld, F.3    Engel, W.4    Laccone, F.5
  • 26
    • 0035196349 scopus 로고    scopus 로고
    • Rett syndrome in Spain: Mutation analysis and clinical correlations
    • DOI 10.1016/S0387-7604(01)00374-6, PII S0387760401003746
    • Monros E, Armstrong J, Aibar E, Poo P, Canos I, Pineda M. Rett syndrome in Spain: mutation analysis and clinical correlations. Brain Dev 2001;23(Suppl 1):S251-S253. (Pubitemid 33111066)
    • (2001) Brain and Development , vol.23 , Issue.SUPPL. 1
    • Monros, E.1    Armstrong, J.2    Aibar, E.3    Poo, P.4    Canos, I.5    Pineda, M.6
  • 30
    • 0034327571 scopus 로고    scopus 로고
    • Functional consequences of Rett syndrome mutations on human MeCP2
    • Yusufai TM , Wolfe A. Functional consequences of Rett syndrome mutations on human MeCP2. Nucleic Acids Res 2000; 28:4172-4179. (Pubitemid 30838209)
    • (2000) Nucleic Acids Research , vol.28 , Issue.21 , pp. 4172-4179
    • Yusufzai, T.M.1    Wolffe, A.P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.