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Volumn 13, Issue 5, 2005, Pages 523-524

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males [1]

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; METHYL CPG BINDING PROTEIN 2; METHYL CPG BINDING PROTEIN 2B; UNCLASSIFIED DRUG;

EID: 18844363657     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201399     Document Type: Letter
Times cited : (10)

References (12)
  • 1
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    • Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
    • Clayton-Smith J, Watson P, Ramsden S, Black GC: Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet 2000; 356: 830-832.
    • (2000) Lancet , vol.356 , pp. 830-832
    • Clayton-Smith, J.1    Watson, P.2    Ramsden, S.3    Black, G.C.4
  • 2
    • 0037215780 scopus 로고    scopus 로고
    • Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)
    • Moog U, Smeets EE, van Roozendaal KE et al: Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). Eur J Paediatr Neurol 2003; 7: 5-12.
    • (2003) Eur. J. Paediatr. Neurol. , vol.7 , pp. 5-12
    • Moog, U.1    Smeets, E.E.2    van Roozendaal, K.E.3
  • 3
    • 18244432131 scopus 로고    scopus 로고
    • MECP2 mutation in male patients with non-specific X-linked mental retardation
    • Orrico A, Lam C, Galli L et al: MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett 2000; 481: 285-288.
    • (2000) FEBS Lett. , vol.481 , pp. 285-288
    • Orrico, A.1    Lam, C.2    Galli, L.3
  • 4
    • 0035870846 scopus 로고    scopus 로고
    • MECP2 is highly mutated in X-linked mental retardation
    • Couvert P, Bienvenu T, Aquaviva C et al: MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet 2001; 10: 941-946.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 941-946
    • Couvert, P.1    Bienvenu, T.2    Aquaviva, C.3
  • 5
    • 0036389872 scopus 로고    scopus 로고
    • Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?
    • Winnepenninckx B, Errijgers V, Hayez-Delatte F, Reyniers E, Frank Kooy R: Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? Hum Mutat 2002; 20: 249-252.
    • (2002) Hum. Mutat. , vol.20 , pp. 249-252
    • Winnepenninckx, B.1    Errijgers, V.2    Hayez-Delatte, F.3    Reyniers, E.4    Frank Kooy, R.5
  • 6
    • 10744229982 scopus 로고    scopus 로고
    • MECP2 analysis in mentally retarded patients: Implications for routine DNA diagnostics
    • Kleefstra T, Yntema HG, Nillesen WM et al: MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. Eur J Hum Genet 2004; 12: 24-28.
    • (2004) Eur. J. Hum. Genet. , vol.12 , pp. 24-28
    • Kleefstra, T.1    Yntema, H.G.2    Nillesen, W.M.3
  • 7
    • 10744223795 scopus 로고    scopus 로고
    • MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-geno-type correlation
    • Gomot M, Gendrot C, Verloes A et al: MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-geno-type correlation. Am J Med Genet 2003; 123A: 129-139.
    • (2003) Am. J. Med. Genet. , vol.123 A , pp. 129-139
    • Gomot, M.1    Gendrot, C.2    Verloes, A.3
  • 8
    • 12144287057 scopus 로고    scopus 로고
    • A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
    • Mnatzakanian GN, Lohi H, Munteanu I et al: A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 2004; 36: 339-341.
    • (2004) Nat. Genet. , vol.36 , pp. 339-341
    • Mnatzakanian, G.N.1    Lohi, H.2    Munteanu, I.3
  • 9
    • 2542481314 scopus 로고    scopus 로고
    • The major form of MeCP2 has a novel N-terminus generated by alternative splicing
    • Kriaucionis S, Bird A: The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res 2004; 32: 1818-1823.
    • (2004) Nucleic Acids Res. , vol.32 , pp. 1818-1823
    • Kriaucionis, S.1    Bird, A.2
  • 11
    • 18844459982 scopus 로고    scopus 로고
    • Screening for mutations in exon 1 of the Rett syndrome gene, MECP2, among individuals with autism and with mental retardation
    • abstract 2274
    • Harvey C, Alfred SE, Mnatzakanian GN et al: Screening for mutations in exon 1 of the Rett syndrome gene, MECP2, among individuals with autism and with mental retardation. Am J Hum Genet 2004; abstract 2274.
    • (2004) Am. J. Hum. Genet.
    • Harvey, C.1    Alfred, S.E.2    Mnatzakanian, G.N.3
  • 12


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.