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Volumn 34, Issue 1, 1997, Pages 1-5

Fragile X syndrome is less common than previously estimated

Author keywords

Fragile X syndrome; FRAXA; Prevalence

Indexed keywords

ADOLESCENT; ARTICLE; CALCULATION; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FEMALE; FOLLOW UP; FRAGILE X SYNDROME; GENE EXPRESSION; HEAD CIRCUMFERENCE; HUMAN; HUMAN CELL; INTELLIGENCE QUOTIENT; MALE; MENTAL DEFICIENCY; MOLECULAR BIOLOGY; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; TESTIS SIZE; UNITED KINGDOM;

EID: 0031025986     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.1.1     Document Type: Article
Times cited : (76)

References (29)
  • 1
    • 0022911920 scopus 로고
    • The frequency of the fragile X chromosome among schoolchildren in Coventry
    • Webb TP, Bundey S, Thake A, Todd J. The frequency of the fragile X chromosome among schoolchildren in Coventry. J Med Genet 1986;23:396-9.
    • (1986) J Med Genet , vol.23 , pp. 396-399
    • Webb, T.P.1    Bundey, S.2    Thake, A.3    Todd, J.4
  • 2
    • 0025304617 scopus 로고
    • The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X
    • Sutherland GR, Baker E. The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X. Clin Genet 1990;37:167-72.
    • (1990) Clin Genet , vol.37 , pp. 167-172
    • Sutherland, G.R.1    Baker, E.2
  • 3
    • 0025849168 scopus 로고
    • Prevalence of fragile X syndrome
    • Webb T, Bundey S. Prevalence of fragile X syndrome. J Med Genet 1991;28:358-60.
    • (1991) J Med Genet , vol.28 , pp. 358-360
    • Webb, T.1    Bundey, S.2
  • 4
    • 0026339303 scopus 로고
    • Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
    • Oberlé I, Rousseau F, Heitz D, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097-102.
    • (1991) Science , vol.252 , pp. 1097-1102
    • Oberlé, I.1    Rousseau, F.2    Heitz, D.3
  • 5
    • 0026347628 scopus 로고
    • Fragile X genotype characterised by an unstable region of DNA
    • Yu S, Pritchard M, Kremer E, et al. Fragile X genotype characterised by an unstable region of DNA. Science 1991; 252:1179-81.
    • (1991) Science , vol.252 , pp. 1179-1181
    • Yu, S.1    Pritchard, M.2    Kremer, E.3
  • 6
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJMH, Pieretti M, Sutcliffe JS, 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.M.H.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 7
  • 9
    • 0025976184 scopus 로고
    • Clinical screening score for the fragile X (Martin-Bell) syndrome
    • Laing S, Partington M, Robinson H, Turner G. Clinical screening score for the fragile X (Martin-Bell) syndrome. Am J Med Genet 1991;38:256-9.
    • (1991) Am J Med Genet , vol.38 , pp. 256-259
    • Laing, S.1    Partington, M.2    Robinson, H.3    Turner, G.4
  • 10
    • 0022344539 scopus 로고
    • Is it possible to make a clinical diagnosis of the fragile X syndrome in a boy?
    • Thake A, Todd J, Bundey S, Webb T. Is it possible to make a clinical diagnosis of the fragile X syndrome in a boy? Arch Dis Child 1985;60:1001-7.
    • (1985) Arch Dis Child , vol.60 , pp. 1001-1007
    • Thake, A.1    Todd, J.2    Bundey, S.3    Webb, T.4
  • 11
    • 0025952727 scopus 로고
    • Direct diagnosis of the fragile X syndrome of mental retardation
    • Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis . 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
  • 12
    • 0027522796 scopus 로고
    • Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation
    • Flynn GA, Hirst MC, Knight SJL, et al. Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. J Med Genet 1993;30:97-100.
    • (1993) J Med Genet , vol.30 , pp. 97-100
    • Flynn, G.A.1    Hirst, M.C.2    Knight, S.J.L.3
  • 13
    • 0027449978 scopus 로고
    • The identification of a third fragile site, FRAXF, in Xq27-q28 distal to both FRAXA and FRAXE
    • Hirst MC, Barnicoat A, Flynn G, et al. The identification of a third fragile site, FRAXF, in Xq27-q28 distal to both FRAXA and FRAXE. Hum Mol Genet 1993;2: 197-200.
    • (1993) Hum Mol Genet , vol.2 , pp. 197-200
    • Hirst, M.C.1    Barnicoat, A.2    Flynn, G.3
  • 14
    • 0027203684 scopus 로고
    • Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
    • Knight SJL, Flannery AV, Hirst MC, et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 1993;74:127-34.
    • (1993) Cell , vol.74 , pp. 127-134
    • Knight, S.J.L.1    Flannery, A.V.2    Hirst, M.C.3
  • 15
    • 0028567730 scopus 로고
    • The cloning of FRAXF: Trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter
    • Ritchie RJ, Knight SJL, Hirst MC, et al. The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Hum Mol Genet 1994; 3:2115-21.
    • (1994) Hum Mol Genet , vol.3 , pp. 2115-2121
    • Ritchie, R.J.1    Knight, S.J.L.2    Hirst, M.C.3
  • 16
    • 0022606342 scopus 로고
    • Prevalence of the fragile X syndrome in mentally retarded boys in a Swedish County
    • Gustavson KH, Blomquist HK, Holmgren G. Prevalence of the fragile X syndrome in mentally retarded boys in a Swedish County. Am J Med Genet 1986;23:581-7.
    • (1986) Am J Med Genet , vol.23 , pp. 581-587
    • Gustavson, K.H.1    Blomquist, H.K.2    Holmgren, G.3
  • 17
    • 0023492052 scopus 로고
    • Prevalence of the fragile X syndrome in four birth cohorts of children of school age
    • Kähkönen M, Alitalo T, Airaksinen E, et al. Prevalence of the fragile X syndrome in four birth cohorts of children of school age. Hum Genet 1987;77:85-7.
    • (1987) Hum Genet , vol.77 , pp. 85-87
    • Kähkönen, M.1    Alitalo, T.2    Airaksinen, E.3
  • 19
    • 0028307307 scopus 로고
    • Prevalence of fra(X) in the county of Funen in Denmark is lower than expected
    • Tranebjaerg L, Hilling S, Jessen J, Lind D, Hansen MS. Prevalence of fra(X) in the county of Funen in Denmark is lower than expected. Am J Med Genet 1994;51:423-7.
    • (1994) Am J Med Genet , vol.51 , pp. 423-427
    • Tranebjaerg, L.1    Hilling, S.2    Jessen, J.3    Lind, D.4    Hansen, M.S.5
  • 20
    • 0026528253 scopus 로고
    • Fragile X syndrome: As common as first thought?
    • Smart RD. Fragile X syndrome: as common as first thought? J Med Genet 1992;29:287-8.
    • (1992) J Med Genet , vol.29 , pp. 287-288
    • Smart, R.D.1
  • 21
    • 0027173002 scopus 로고
    • Population studies of the fragile X: A molecular approach
    • Jacobs PA, Bullman H, Macpherson J, et al. Population studies of the fragile X: a molecular approach. J Med Genet 1993;30:454-9.
    • (1993) J Med Genet , vol.30 , pp. 454-459
    • Jacobs, P.A.1    Bullman, H.2    Macpherson, J.3
  • 22
    • 16844387576 scopus 로고    scopus 로고
    • FRAXA, FRAXE and linked microsatellite markers in a large population of boys with learning difficulties and their mothers
    • Murray A, Latsky L, McKechnie ?, Pound M, Yoiungs S, Jacobs P. FRAXA, FRAXE and linked microsatellite markers in a large population of boys with learning difficulties and their mothers. Eur J Hum Genet 1996;4(suppl):115A.
    • (1996) Eur J Hum Genet , vol.4 , Issue.SUPPL.
    • Murray, A.1    Latsky, L.2    McKechnie3    Pound, M.4    Yoiungs, S.5    Jacobs, P.6
  • 23
    • 0028833865 scopus 로고
    • DNA testing for fragile X syndrome in schools for learning difficulties
    • Slaney SF, Wilkie AOM, Hirst MC, et al. DNA testing for fragile X syndrome in schools for learning difficulties. Arch Dis Child 1995;72:33-7.
    • (1995) Arch Dis Child , vol.72 , pp. 33-37
    • Slaney, S.F.1    Wilkie, A.O.M.2    Hirst, M.C.3
  • 27
    • 0026865445 scopus 로고
    • Characterization of a new rare fragile site easily confused, with the fragile X
    • Sutherland GR, Baker E. Characterization of a new rare fragile site easily confused, with the fragile X. Hum Mol Genet 1992;1:111-13.
    • (1992) Hum Mol Genet , vol.1 , pp. 111-113
    • Sutherland, G.R.1    Baker, E.2
  • 28
    • 0029029547 scopus 로고
    • FRAXE expansion is not a common etiological factor among developmentally delayed males
    • Allingham-Hawkins DJ, Ray PN. FRAXE expansion is not a common etiological factor among developmentally delayed males. Am J Hum Genet 1995;56:72-6.
    • (1995) Am J Hum Genet , vol.56 , pp. 72-76
    • Allingham-Hawkins, D.J.1    Ray, P.N.2
  • 29
    • 0028099702 scopus 로고
    • Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
    • Parrish JE, Oostra BA, Verkerk AJMH, et al. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet 1994;8:229-35.
    • (1994) Nat Genet , vol.8 , pp. 229-235
    • Parrish, J.E.1    Oostra, B.A.2    Verkerk, A.J.M.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.