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Volumn 42, Issue SUPPL.1, 2006, Pages

Fragile X syndrome;Síndrome X frágil

Author keywords

CGG triplet; Early ovarian failure; Fragile X syndrome; FXTAS; Mental retardation; Methylation

Indexed keywords

ALLELE; ATAXIA; DISEASE ASSOCIATION; EXON; FRAGILE X SYNDROME; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENOME; HETEROZYGOTE; HUMAN; METHYLATION; OVARY INSUFFICIENCY; PHENOTYPE; REVIEW;

EID: 34548775693     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (5)

References (23)
  • 1
    • 0014517848 scopus 로고
    • A marker X chromosome
    • Lubs HA. A marker X chromosome. Am J Hum Genet 1969; 21: 231-44.
    • (1969) Am J Hum Genet , vol.21 , pp. 231-244
    • Lubs, H.A.1
  • 2
    • 0000524625 scopus 로고
    • A pedigree of mental defect showing sex-linkage
    • Martin JP, Bell J. A pedigree of mental defect showing sex-linkage. Neurol Psychiatry 1943; 6: 154-7.
    • (1943) Neurol Psychiatry , vol.6 , pp. 154-157
    • Martin, J.P.1    Bell, J.2
  • 3
    • 0017381277 scopus 로고
    • Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium
    • Sutherland GR. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 1977; 197: 265-6.
    • (1977) Science , vol.197 , pp. 265-266
    • Sutherland, G.R.1
  • 4
    • 0026526095 scopus 로고
    • Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: Implications for cytogenetic diagnosis of the fragile X syndrome
    • Ramos FJ, Emanuel BS, Spinner NB. Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile X syndrome. Am J Med Genet 1992; 42: 835-8.
    • (1992) Am J Med Genet , vol.42 , pp. 835-838
    • Ramos, F.J.1    Emanuel, B.S.2    Spinner, N.B.3
  • 6
    • 0021921029 scopus 로고
    • A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation
    • Pembrey ME, Winter RM, Davies KE. A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation. Am J Med Genet 1985; 21: 709-17.
    • (1985) Am J Med Genet , vol.21 , pp. 709-717
    • Pembrey, M.E.1    Winter, R.M.2    Davies, K.E.3
  • 8
    • 0023440934 scopus 로고
    • Proposed mechanism of inheritance and expression of the human fragile X syndrome of mental retardation
    • Laird CD. Proposed mechanism of inheritance and expression of the human fragile X syndrome of mental retardation. Genetic 1987; 117: 587-99.
    • (1987) Genetic , vol.117 , pp. 587-599
    • Laird, C.D.1
  • 9
    • 0025800165 scopus 로고
    • Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
    • Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 1991; 252: 1711-4.
    • (1991) Science , vol.252 , pp. 1711-1714
    • Kremer, E.J.1    Pritchard, M.2    Lynch, M.3    Yu, S.4    Holman, K.5    Baker, E.6
  • 10
    • 0026339303 scopus 로고
    • Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
    • Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, 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
    • Oberle, I.1    Rousseau, F.2    Heitz, D.3    Kretz, C.4    Devys, D.5    Hanauer, A.6
  • 11
    • 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 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
  • 12
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu Y, 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.1    Kuhl, D.P.2    Pizzuti, A.3    Pieretti, M.4    Sutcliffe, J.S.5    Richards, S.6
  • 13
    • 0026767610 scopus 로고
    • Dynamic mutations: A new class of mutations causing human disease
    • Richards RI, Sutherland GR. Dynamic mutations: a new class of mutations causing human disease. Cell 1992; 70: 709-12.
    • (1992) Cell , vol.70 , pp. 709-712
    • Richards, R.I.1    Sutherland, G.R.2
  • 14
    • 0030795653 scopus 로고    scopus 로고
    • The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing
    • Kunst CB, Leeflang EP, Iber JC, Arnheim N, Warren ST. The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing. J Med Genet 1997; 34: 627-31.
    • (1997) J Med Genet , vol.34 , pp. 627-631
    • Kunst, C.B.1    Leeflang, E.P.2    Iber, J.C.3    Arnheim, N.4    Warren, S.T.5
  • 15
    • 0026781016 scopus 로고
    • A microdeletion of less than 250 kilobases, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome
    • Wohrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, et al. A microdeletion of less than 250 kilobases, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet 1992; 51: 299-306.
    • (1992) Am J Hum Genet , vol.51 , pp. 299-306
    • Wohrle, D.1    Kotzot, D.2    Hirst, M.C.3    Manca, A.4    Korn, B.5    Schmidt, A.6
  • 17
    • 0027489281 scopus 로고
    • An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype
    • Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth AS, Lachiewicz A. An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. Hum Molec Genet 1993; 2: 1973-4.
    • (1993) Hum Molec Genet , vol.2 , pp. 1973-1974
    • Tarleton, J.1    Richie, R.2    Schwartz, C.3    Rao, K.4    Aylsworth, A.S.5    Lachiewicz, A.6
  • 18
  • 19
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
    • Kenneson A, Zhang F, Hagedorn CH, Warren ST. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Molec Genet 2001; 10: 1449-54.
    • (2001) Hum Molec Genet , vol.10 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 20
    • 0031857007 scopus 로고    scopus 로고
    • Studies of FRAXA and FRAXE in women with premature ovarian failure
    • Murray A, Webb J, Grimley S, Conway G, Jacobs P. Studies of FRAXA and FRAXE in women with premature ovarian failure. J Med Genet 1998; 35: 637-40.
    • (1998) J Med Genet , vol.35 , pp. 637-640
    • Murray, A.1    Webb, J.2    Grimley, S.3    Conway, G.4    Jacobs, P.5
  • 21
    • 23944493381 scopus 로고    scopus 로고
    • FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
    • Bretherick KL, Fluker MR, Robinson WP. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 2005; 117: 376-82.
    • (2005) Hum Genet , vol.117 , pp. 376-382
    • Bretherick, K.L.1    Fluker, M.R.2    Robinson, W.P.3
  • 22
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
    • Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001; 57: 127-30.
    • (2001) Neurology , vol.57 , pp. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3    Tassone, F.4    Wilson, R.5    Hills, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.