메뉴 건너뛰기




Volumn 5, Issue 3, 2006, Pages 448-453

Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA

Author keywords

Buccal cells; DNA extraction; Fragile X syndrome; Mental retardation

Indexed keywords

ADULT; ARTICLE; CHEEK; CHILD; DNA DETERMINATION; FRAGILE X SYNDROME; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 33748616241     PISSN: 16765680     EISSN: 16765680     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (19)
  • 1
    • 0035746538 scopus 로고    scopus 로고
    • FMR1 and the fragile X syndrome: Human genome epidemiology review
    • Crawford DC, Acuna JM and Sherman SL (2001). FMR1 and the fragile X syndrome: human genome epidemiology review. Genet. Med. 3: 359-371.
    • (2001) Genet. Med. , vol.3 , pp. 359-371
    • Crawford, D.C.1    Acuna, J.M.2    Sherman, S.L.3
  • 2
    • 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, et al. (1991). Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67: 1047-1058.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzuti, A.3    Pieretti, M.4
  • 3
    • 0034904540 scopus 로고    scopus 로고
    • Collection of genomic DNA from adults in epidemiological studies by buccal cytobrushes and mouthwash
    • Garcia-Glosas M, Egan K, Abruzzo J, Newcomb P, et al. (2001). Collection of genomic DNA from adults in epidemiological studies by buccal cytobrushes and mouthwash. Cancer Epidemiol. Biomarkers Prev. 10: 687-696.
    • (2001) Cancer Epidemiol. Biomarkers Prev. , vol.10 , pp. 687-696
    • Garcia-Glosas, M.1    Egan, K.2    Abruzzo, J.3    Newcomb, P.4
  • 4
    • 0029926866 scopus 로고    scopus 로고
    • A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males
    • Haddad LA, Mingroni-Netto RC, Vianna-Morgante AM and Pena SD (1996). A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males. Hum. Genet. 97: 808-812.
    • (1996) Hum. Genet. , vol.97 , pp. 808-812
    • Haddad, L.A.1    Mingroni-Netto, R.C.2    Vianna-Morgante, A.M.3    Pena, S.D.4
  • 6
    • 0028362238 scopus 로고
    • Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing
    • Hagerman RJ, Wilson P, Staley LW, Lang KA, et al. (1994). Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing. Am. J. Med. Genet. 51: 474-481.
    • (1994) Am. J. Med. Genet. , vol.51 , pp. 474-481
    • Hagerman, R.J.1    Wilson, P.2    Staley, L.W.3    Lang, K.A.4
  • 8
    • 0026080111 scopus 로고
    • A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
    • Lahiri DK and Nurnberger Jr JI (1991). A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 19: 5444.
    • (1991) Nucleic Acids Res. , vol.19 , pp. 5444
    • Lahiri, D.K.1    Nurnberger Jr., J.I.2
  • 9
    • 2542583041 scopus 로고    scopus 로고
    • Fragile X mental retardation syndrome: From pathogenesis to diagnostic issues
    • Mandel JL and Biancalana V (2004). Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues. Growth Horm. IGF Res. 14 (Suppl A): S158-S165.
    • (2004) Growth Horm. IGF Res. , vol.14 , Issue.SUPPL. A
    • Mandel, J.L.1    Biancalana, V.2
  • 10
    • 0030013564 scopus 로고    scopus 로고
    • The number of CGG repeats of the FMR1 locus in premutated and fully mutated heterozygotes and their offspring: Implications for the origin of mosaicism
    • Mingroni-Netto RC, Haddad LA and Vianna-Morgante AM (1996). The number of CGG repeats of the FMR1 locus in premutated and fully mutated heterozygotes and their offspring: implications for the origin of mosaicism. Am. J. Med. Genet. 64: 270-273.
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 270-273
    • Mingroni-Netto, R.C.1    Haddad, L.A.2    Vianna-Morgante, A.M.3
  • 11
    • 0035208684 scopus 로고    scopus 로고
    • Evaluation of buccal cell collection protocols for genetic susceptibility studies
    • Moore L, Wiencke J, Eng C, Zheng S, et al. (2001). Evaluation of buccal cell collection protocols for genetic susceptibility studies. Biomarkers 6: 448-454.
    • (2001) Biomarkers , vol.6 , pp. 448-454
    • Moore, L.1    Wiencke, J.2    Eng, C.3    Zheng, S.4
  • 12
    • 0025833298 scopus 로고
    • Absence of expression of the FMR-1 gene in fragile X syndrome
    • Pieretti M, Zhang FP, Fu YH, Warren ST, et al. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66: 817-822.
    • (1991) Cell , vol.66 , pp. 817-822
    • Pieretti, M.1    Zhang, F.P.2    Fu, Y.H.3    Warren, S.T.4
  • 13
    • 0025952727 scopus 로고
    • Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
    • Rousseau F, Heitz D, Biancalana V, Blumenfeld S, et al. (1991). Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N. Engl. J. Med. 325: 1673-1681.
    • (1991) N. Engl. J. Med. , vol.325 , pp. 1673-1681
    • Rousseau, F.1    Heitz, D.2    Biancalana, V.3    Blumenfeld, S.4
  • 14
    • 0026922707 scopus 로고
    • DNA methylation represses FMR-1 transcription in fragile X syndrome
    • Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, et al. (1992). DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. Mol. Genet. 1: 397-400.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 397-400
    • Sutcliffe, J.S.1    Nelson, D.L.2    Zhang, F.3    Pieretti, M.4
  • 15
    • 0034527334 scopus 로고    scopus 로고
    • In search of the MRX genes
    • Toniolo D (2000). In search of the MRX genes. Am. J. Med. Genet. 97: 221-227.
    • (2000) Am. J. Med. Genet. , vol.97 , pp. 221-227
    • Toniolo, D.1
  • 16
    • 0027236971 scopus 로고
    • Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
    • Verheij C, Bakker CE, de Graaff E, Keulemans J, et al. (1993). Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363: 722-724.
    • (1993) Nature , vol.363 , pp. 722-724
    • Verheij, C.1    Bakker, C.E.2    De Graaff, E.3    Keulemans, J.4
  • 17
    • 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, et al. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65: 905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4
  • 18
    • 0037900879 scopus 로고    scopus 로고
    • Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis
    • Willemsen R, Smits A, Severijnen LA, Jansen M, et al. (2003). Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis. J. Med. Genet. 40: 377-379.
    • (2003) J. Med. Genet. , vol.40 , pp. 377-379
    • Willemsen, R.1    Smits, A.2    Severijnen, L.A.3    Jansen, M.4
  • 19
    • 0034894521 scopus 로고    scopus 로고
    • Whole genome amplification increases the efficiency and validity of buccal cell genotyping in pediatric populations
    • Zheng S, Ma X, Buffler PA, Smith MT, et al. (2001). Whole genome amplification increases the efficiency and validity of buccal cell genotyping in pediatric populations. Cancer Epidemiol. Biomarkers Prev. 10: 697-700.
    • (2001) Cancer Epidemiol. Biomarkers Prev. , vol.10 , pp. 697-700
    • Zheng, S.1    Ma, X.2    Buffler, P.A.3    Smith, M.T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.