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Volumn 64, Issue 2, 1996, Pages 270-273

The number of CGG repeats of the FMR1 locus in premutated and fully mutated heterozygotes and their offspring: Implications for the origin of mosaicism

Author keywords

fra(X) mosaics; fra(X) syndrome; probe StB12.3

Indexed keywords

GENE PRODUCT;

EID: 0030013564     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<270::AID-AJMG7>3.0.CO;2-Y     Document Type: Article
Times cited : (17)

References (17)
  • 1
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    • Unstable triplets and their mutational mechanism: Size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome
    • Chiurazzi P, Kozak L, Neri G (1994): Unstable triplets and their mutational mechanism: size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome. Am J Med Genet 51:517-521.
    • (1994) Am J Med Genet , vol.51 , pp. 517-521
    • Chiurazzi, P.1    Kozak, L.2    Neri, G.3
  • 4
    • 2742532586 scopus 로고    scopus 로고
    • A PCR-based diagnostic test for fragile X syndrome suitable for screening among mentally retarded males
    • (in press): (in press)
    • Haddad LA, Mingroni-Netto RC, Vianna-Morgante AM, Pena SDJ (in press): A PCR-based diagnostic test for fragile X syndrome suitable for screening among mentally retarded males. Hum Genet (in press).
    • Hum Genet
    • Haddad, L.A.1    Mingroni-Netto, R.C.2    Vianna-Morgante, A.M.3    Pena, S.D.J.4
  • 5
    • 0026462708 scopus 로고
    • Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation
    • Heitz D, Devys D, Imbert G, Kretz C, Mandel J-L (1992): Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition 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
  • 6
    • 0027476454 scopus 로고
    • Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families
    • Hori T, Yamauchi M, Seki N, Tsuji S, Ikuko K (1993): Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families. Clin Genet 43:34-48.
    • (1993) Clin Genet , vol.43 , pp. 34-48
    • Hori, T.1    Yamauchi, M.2    Seki, N.3    Tsuji, S.4    Ikuko, K.5
  • 7
    • 0028283365 scopus 로고
    • Relationship of expansion of CGG repeats and X-inactivation with expression of fra(X)(q27.3) in heterozygotes
    • Mingroni-Netto RC, Fernandes JG, Vianna-Morgante, AM (1994): Relationship of expansion of CGG repeats and X-inactivation with expression of fra(X)(q27.3) in heterozygotes. Am J Med Genet 51: 443-446.
    • (1994) Am J Med Genet , vol.51 , pp. 443-446
    • Mingroni-Netto, R.C.1    Fernandes, J.G.2    Vianna-Morgante, A.M.3
  • 11
    • 0027512686 scopus 로고
    • Genetic and population study of an Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique
    • Santos FR, Pena SDJ, Epplen JT (1993): Genetic and population study of an Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique. Hum Genet 90:655-656.
    • (1993) Hum Genet , vol.90 , pp. 655-656
    • Santos, F.R.1    Pena, S.D.J.2    Epplen, J.T.3
  • 12
    • 0027525069 scopus 로고
    • Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
    • Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN (1993): Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 53: 1217-1228.
    • (1993) Am J Hum Genet , vol.53 , pp. 1217-1228
    • Snow, K.1    Doud, L.K.2    Hagerman, R.3    Pergolizzi, R.G.4    Erster, S.H.5    Thibodeau, S.N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.