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Volumn 6, Issue 7, 1997, Pages 971-979

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0030833799     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.7.971     Document Type: Article
Times cited : (62)

References (35)
  • 2
    • 0028904864 scopus 로고
    • Triplet repeat expansion mutations: The example of fragile X syndrome
    • Warren,S.T. and Ashley,C.T.,Jr. (1995) Triplet repeat expansion mutations: the example of fragile X syndrome. Annu. Rev. Neurosci., 18, 77-99.
    • (1995) Annu. Rev. Neurosci. , vol.18 , pp. 77-99
    • Warren, S.T.1    Ashley Jr., C.T.2
  • 4
    • 84989738160 scopus 로고
    • Molecular and clinical correlations in fragile X syndrome
    • Hagerman,R.J. (1995) Molecular and clinical correlations in fragile X syndrome. Mental Retard. Dev. Disabil. Res. Rev., 1, 276-280.
    • (1995) Mental Retard. Dev. Disabil. Res. Rev. , vol.1 , pp. 276-280
    • Hagerman, R.J.1
  • 9
    • 0026462708 scopus 로고
    • Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant to full mutation
    • Heitz,D., Devys,D., Imbert,G., Kretz,C. and Mandel,J.L. (1992) Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant to full mutation. J. Med. Genet., 29, 794-801.
    • (1992) J. Med. Genet. , vol.29 , pp. 794-801
    • Heitz, D.1    Devys, D.2    Imbert, G.3    Kretz, C.4    Mandel, J.L.5
  • 14
    • 0026547912 scopus 로고
    • Population genetics of the fragile-X syndrome: Multiallelic model for the FMR1 locus
    • Morton,N.E. and Macpherson,J.N. (1992) Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus. Proc. Natl. Acad. Sci. USA, 89, 4215-4217.
    • (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 4215-4217
    • Morton, N.E.1    Macpherson, J.N.2
  • 17
    • 0028305242 scopus 로고
    • No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations
    • Rousseau,F., Robb,L.J., Rouillard,P. and Der Kaloustian,V.M. (1994) No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations. Hum. Mol. Genet., 3, 927-930.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 927-930
    • Rousseau, F.1    Robb, L.J.2    Rouillard, P.3    Der Kaloustian, V.M.4
  • 18
    • 0026751517 scopus 로고
    • Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
    • Devys,D., Biancalana,V., Rousseau,F., Boué,J., Mandel,J.L. and Oberlé,I. (1992) Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am. J. Med. Genet., 43, 208-216.
    • (1992) Am. J. Med. Genet. , vol.43 , pp. 208-216
    • Devys, D.1    Biancalana, V.2    Rousseau, F.3    Boué, J.4    Mandel, J.L.5    Oberlé, I.6
  • 19
    • 0027310525 scopus 로고
    • Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion
    • Wöhrle,D., Hennig,I., Vogel,W. and Steinbach,P. (1993) Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nature Genet., 4, 140-142.
    • (1993) Nature Genet. , vol.4 , pp. 140-142
    • Wöhrle, D.1    Hennig, I.2    Vogel, W.3    Steinbach, P.4
  • 21
    • 0028246435 scopus 로고
    • Fmr1 knockout mice: A model to study fragile X mental retardation
    • The Dutch-Belgian fragile X consortium, (1994) Fmr1 knockout mice: a model to study fragile X mental retardation. Cell, 78, 23-33.
    • (1994) Cell , vol.78 , pp. 23-33
  • 23
    • 0026354010 scopus 로고
    • Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation
    • Rousseau,F, Heitz,D., Oberlé,I. and Mandel,J.L. (1991) Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J. Med. Genet., 28, 830-836.
    • (1991) J. Med. Genet. , vol.28 , pp. 830-836
    • Rousseau, F.1    Heitz, D.2    Oberlé, I.3    Mandel, J.L.4
  • 24
    • 0028843825 scopus 로고
    • Population dynamics of a meiotic/ mitotic expansion model for the fragile X syndrome
    • Ashley,A.E. and Sherman,S.L. (1995) Population dynamics of a meiotic/ mitotic expansion model for the fragile X syndrome. Am. J. Hum. Genet., 57, 1414-1425.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 1414-1425
    • Ashley, A.E.1    Sherman, S.L.2
  • 25
    • 0029019623 scopus 로고
    • Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: Evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability
    • Wohrle,D., Kennerknecht,I., Wolf,M., Enders,H., Schwemmle,S. and Steinbach,P. (1995) Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a casual involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Hum. Mol. Genet., 4, 1147-1153.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1147-1153
    • Wohrle, D.1    Kennerknecht, I.2    Wolf, M.3    Enders, H.4    Schwemmle, S.5    Steinbach, P.6
  • 26
    • 0028128021 scopus 로고
    • Diagnosis of fragile X syndrome by direct mutation analysis
    • Vaisanen,M.L, Kahkonen,M. and Leisti,J. (1994) Diagnosis of fragile X syndrome by direct mutation analysis. Hum. Genet., 93, 143-147.
    • (1994) Hum. Genet. , vol.93 , pp. 143-147
    • Vaisanen, M.L.1    Kahkonen, M.2    Leisti, J.3
  • 29
    • 0027176361 scopus 로고
    • The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutalion
    • Devys,D., Lutz,Y., Rouyer,N., Bellocq,J.P. and Mandel,J.L. (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutalion. Nature Genet., 4, 335-340.
    • (1993) Nature Genet. , vol.4 , pp. 335-340
    • Devys, D.1    Lutz, Y.2    Rouyer, N.3    Bellocq, J.P.4    Mandel, J.L.5
  • 30
    • 0027715424 scopus 로고
    • Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad
    • Bachner,D., Manca,A., Steinbach,P., Wohrle,D., Just,W., Vogel,W., Hameister,H. and Poustka,A. (1993) Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad. Hum. Mol. Genet., 2, 2043-2050.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 2043-2050
    • Bachner, D.1    Manca, A.2    Steinbach, P.3    Wohrle, D.4    Just, W.5    Vogel, W.6    Hameister, H.7    Poustka, A.8
  • 31
    • 0027176828 scopus 로고
    • Association of fragile X syndrome with delayed replication of the FMRI gene
    • Hansen,R.S., Canfield,T.K., Lamb,M.M., Gartler,S.M. and Laird,C.D. (1993) Association of fragile X syndrome with delayed replication of the FMRI gene. Cell, 73, 1403-1409.
    • (1993) Cell , vol.73 , pp. 1403-1409
    • Hansen, R.S.1    Canfield, T.K.2    Lamb, M.M.3    Gartler, S.M.4    Laird, C.D.5
  • 33
    • 0027380686 scopus 로고
    • PCR amplification of highly GC-rich DNA template after denaturation by NaOH
    • Agarwal,R.K. and Perl,A. (1993) PCR amplification of highly GC-rich DNA template after denaturation by NaOH. Nucleic Acids Res., 21, 5283-5284.
    • (1993) Nucleic Acids Res. , vol.21 , pp. 5283-5284
    • Agarwal, R.K.1    Perl, A.2
  • 35
    • 0028932577 scopus 로고
    • A rapid, non-radio-active screening test for fragile X mutations at the FRAXA and FRAXE loci
    • Wang,Q., Green,E., Bobrow,M. and Mathew,C.G. (1995) A rapid, non-radio-active screening test for fragile X mutations at the FRAXA and FRAXE loci. J. Med. Genet., 32, 170-173.
    • (1995) J. Med. Genet. , vol.32 , pp. 170-173
    • Wang, Q.1    Green, E.2    Bobrow, M.3    Mathew, C.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.