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Volumn 52, Issue 8, 2006, Pages 1492-1500

Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis

Author keywords

[No Author keywords available]

Indexed keywords

BISULFITE; FLUORESCENT DYE; GENOMIC DNA;

EID: 33746625983     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2006.068593     Document Type: Article
Times cited : (43)

References (12)
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    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-14.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6
  • 3
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67: 1047-58.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzuti, A.3    Pieretti, M.4    Sutcliffe, J.S.5    Richards, S.6
  • 4
    • 0000502460 scopus 로고    scopus 로고
    • The fragile X syndrome
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw Hill
    • Warren ST, Sherman SL. The fragile X syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, Vol. 8. New York: McGraw Hill, 2001:1257-89.
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , vol.8 , pp. 1257-1289
    • Warren, S.T.1    Sherman, S.L.2
  • 5
    • 27144555231 scopus 로고
    • The Fragile-X: Physical Phenotype
    • Sutherland GR, Hecht F, eds. Oxford Monographs on Medical Genetics, No. 13. New York: Oxford University Press
    • Sutherland GR, Hecht F, Mulley JC, Glover TW, Hecht BK. The Fragile-X: Physical Phenotype. In: Sutherland GR, Hecht F, eds. Fragile Sites on Human Chromosomes. Oxford Monographs on Medical Genetics, No. 13. New York: Oxford University Press, 1985:132.
    • (1985) Fragile Sites on Human Chromosomes , pp. 132
    • Sutherland, G.R.1    Hecht, F.2    Mulley, J.C.3    Glover, T.W.4    Hecht, B.K.5
  • 6
  • 8
    • 0025952727 scopus 로고
    • Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
    • Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991;325:1673-81.
    • (1991) N Engl J Med , vol.325 , pp. 1673-1681
    • Rousseau, F.1    Heitz, D.2    Biancalana, V.3    Blumenfeld, S.4    Kretz, C.5    Boue, J.6
  • 10
    • 0001564117 scopus 로고    scopus 로고
    • Automated detection of trinucleotide repeats in fragile X syndrome
    • Hamdan H, Tynan JA, Fenwick RA, Leon JA. Automated detection of trinucleotide repeats in fragile X syndrome. Mol Diagn 1997;2: 259-69.
    • (1997) Mol Diagn , vol.2 , pp. 259-269
    • Hamdan, H.1    Tynan, J.A.2    Fenwick, R.A.3    Leon, J.A.4
  • 11
    • 0031411470 scopus 로고    scopus 로고
    • High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis
    • Larsen LA, Gronskov K, Norgaard-Pedersen B, Brondum-Nielsen K, Hasholt L, Vuust J. High-throughput analysis of fragile X (CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis. Hum Genet 1997;100: 564-8.
    • (1997) Hum Genet , vol.100 , pp. 564-568
    • Larsen, L.A.1    Gronskov, K.2    Norgaard-Pedersen, B.3    Brondum-Nielsen, K.4    Hasholt, L.5    Vuust, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.