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Volumn 39, Issue 6, 2006, Pages 766-773

Fragile-X mental retardation: Molecular diagnosis in Argentine patients

Author keywords

Fragile X syndrome; Mental retardation; Microsatellites expansion; Molecular diagnosis

Indexed keywords


EID: 33845430093     PISSN: 12258687     EISSN: 12258687     Source Type: Journal    
DOI: 10.5483/bmbrep.2006.39.6.766     Document Type: Article
Times cited : (7)

References (31)
  • 1
    • 0027300283 scopus 로고
    • Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain
    • Abitbol, M., Menini, C., Delezoide, A. L., Rhyner, T., Vekemans, M. and Mallet, J. (1993) Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain. Nat Genet. 4, 147-153.
    • (1993) Nat Genet. , vol.4 , pp. 147-153
    • Abitbol, M.1    Menini, C.2    Delezoide, A.L.3    Rhyner, T.4    Vekemans, M.5    Mallet, J.6
  • 3
    • 3042647610 scopus 로고    scopus 로고
    • The mGluR theory of fragile X mental retardation
    • Bear, M. F., Huber, K. M. and Warren, S. T. (2004) The mGluR theory of fragile X mental retardation. Trends Neurosci. 27, 370-377.
    • (2004) Trends Neurosci. , vol.27 , pp. 370-377
    • Bear, M.F.1    Huber, K.M.2    Warren, S.T.3
  • 4
    • 0032905253 scopus 로고    scopus 로고
    • Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells
    • Coffee, B., Zhang, F., Warren, S. T. and Reines, D. (1999) Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nature Genet. 22, 98-101.
    • (1999) Nature Genet. , vol.22 , pp. 98-101
    • Coffee, B.1    Zhang, F.2    Warren, S.T.3    Reines, D.4
  • 5
    • 0029943226 scopus 로고    scopus 로고
    • Mosaicism for the FMR1 gene influences adaptive skills development in fragile X-affected males
    • Cohen, I. L., Nolin, S. L., Sudhalter, V., Ding, X. H., Dobkin, C. S. and Brown, W. T. (1996) Mosaicism for the FMR1 gene influences adaptive skills development in fragile X-affected males. Am. J. Med. Genet. 64, 365-369.
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 365-369
    • Cohen, I.L.1    Nolin, S.L.2    Sudhalter, V.3    Ding, X.H.4    Dobkin, C.S.5    Brown, W.T.6
  • 9
    • 0031310667 scopus 로고    scopus 로고
    • FMRP associates with polyribosomes as an mRNP and the I304N mutation of severe fragile X syndrome abolishes this association
    • Feng, Y., Absher, D., Eberhart, D. E., Brown, V., Malter, H. E. and Warren, S. T. (1997) FMRP associates with polyribosomes as an mRNP and the I304N mutation of severe fragile X syndrome abolishes this association. Mol. Cell. 1, 109-118.
    • (1997) Mol. Cell. , vol.1 , pp. 109-118
    • Feng, Y.1    Absher, D.2    Eberhart, D.E.3    Brown, V.4    Malter, H.E.5    Warren, S.T.6
  • 13
    • 0002030352 scopus 로고    scopus 로고
    • Variation of CGG repeats at the fragil X site: Clear signal enhancement using expand TM long template
    • Hilbert, P. and Sabine, M. (1996) Variation of CGG repeats at the fragil X site: clear signal enhancement using expand TM long template. Biochemica, 4, 29.
    • (1996) Biochemica , vol.4 , pp. 29
    • Hilbert, P.1    Sabine, M.2
  • 16
    • 0035864826 scopus 로고    scopus 로고
    • Evidence that fragile X mental retardation protein is a negative regulator of translation
    • Laggerbauer, B., Ostareck, D., Keidel, E. M., Ostareck-Lederer, A. and Fischer, U. (2001) Evidence that fragile X mental retardation protein is a negative regulator of translation. Hum. Mol. Genet. 10, 329-338.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 329-338
    • Laggerbauer, B.1    Ostareck, D.2    Keidel, E.M.3    Ostareck-Lederer, A.4    Fischer, U.5
  • 17
    • 0035368955 scopus 로고    scopus 로고
    • The fragile X mental retardation protein inhibits translation via interacting with mRNA
    • Li, Z., Zhang, Y., Ku, L., Wilkinson, K. D., Warren, S. T. and Feng, Y. (2001) The fragile X mental retardation protein inhibits translation via interacting with mRNA. Nucleic Acids Res. 29, 2276-2283.
    • (2001) Nucleic Acids Res. , vol.29 , pp. 2276-2283
    • Li, Z.1    Zhang, Y.2    Ku, L.3    Wilkinson, K.D.4    Warren, S.T.5    Feng, Y.6
  • 20
    • 0030833799 scopus 로고    scopus 로고
    • Transition from premutation to full mutation in fragile X sydrome is likely to be prezygotic
    • Moutou, C., Vincent, M. C., Blancalena, V. and Mandel, J. L. (1997) Transition from premutation to full mutation in fragile X sydrome is likely to be prezygotic. Hum. Mol. Genet. 6, 971-979.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 971-979
    • Moutou, C.1    Vincent, M.C.2    Blancalena, V.3    Mandel, J.L.4
  • 22
    • 0344872618 scopus 로고    scopus 로고
    • Slipping while slipping? Trinucleotide repeat expansions in germ cells
    • Pearson, C. E. (2003) Slipping while slipping? Trinucleotide repeat expansions in germ cells. Trends Mol Med. 9, 490-495.
    • (2003) Trends Mol Med. , vol.9 , pp. 490-495
    • Pearson, C.E.1
  • 23
    • 25844438495 scopus 로고    scopus 로고
    • Repeat instability: Mechanisms of dynamic mutations
    • Pearson, C. E., Edamura, K. N. and Cleary, J. D. (2005) Repeat instability: mechanisms of dynamic mutations. Nature Rev. Genet. 6, 729-742.
    • (2005) Nature Rev. Genet. , vol.6 , pp. 729-742
    • Pearson, C.E.1    Edamura, K.N.2    Cleary, J.D.3
  • 27
    • 0033612330 scopus 로고    scopus 로고
    • Strong similarities of the FMR1 mutation in multiple tissues; postmortem studies of a male with a full mutation and a male carrier of a premutation
    • Tassone, F., Hagerman, R. J., Gane, L. W. and Taylor, A. K. (1999) Strong similarities of the FMR1 mutation in multiple tissues; postmortem studies of a male with a full mutation and a male carrier of a premutation. Am. J. Med. Genet. 84, 240-244.
    • (1999) Am. J. Med. Genet. , vol.84 , pp. 240-244
    • Tassone, F.1    Hagerman, R.J.2    Gane, L.W.3    Taylor, A.K.4
  • 29
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CCG repeat coincident with a fragile X break point cluster region exhibing lengh variation in fragile X syndrome
    • Verkerk, A. J. M. H., Graaff, E., De Boulle, K., Eichler, E.E., Konecki, D.S., Reyniers, E. et al. (1991) Identification of a gene (FMR-1) containing a CCG repeat coincident with a fragile X break point cluster region exhibing lengh variation in fragile X syndrome. Cell 65, 905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.M.H.1    Graaff, E.2    De Boulle, K.3    Eichler, E.E.4    Konecki, D.S.5    Reyniers, E.6
  • 30
    • 0000502460 scopus 로고    scopus 로고
    • The fragile X syndrome
    • Saiver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D. (eds.), Mc Graw Hill, New York, USA
    • Warren, S. T. and Sherman, S. L. (2001) The fragile X syndrome; in The Metabolic and Molecular Basis of Inherited Disease, Saiver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D. (eds.), pp. 1257-1289, Mc Graw Hill, New York, USA.
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , pp. 1257-1289
    • Warren, S.T.1    Sherman, S.L.2
  • 31
    • 0026781016 scopus 로고
    • A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragileX site, in a male with the clinical phenotype of fragile-X syndrome
    • Wohrle, D., Kotzot, D., Hirst, M. C., Manca, A., Korn, B., Schmidt, A. et al. (1992) A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragileX site, in a male with the clinical phenotype of fragile-X syndrome. Am. J. Hum. Genet. 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.