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Journal Abstract Search


159 related items for PubMed ID: 1673316

  • 1. X chromosome inactivation in fibroblasts of mentally retarded female carriers of the fragile site Xq27.3: application of the probe M27 beta to evaluate X inactivation status.
    Schmidt M, Du Sart D, Kalitsis P, Fraser N, Leversha M, Voullaire L, Foster D, Davies J, Hills L, Petrovic V.
    Am J Med Genet; 1991; 38(2-3):411-5. PubMed ID: 1673316
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  • 3. Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome.
    Webb T, Jacobs PA.
    J Med Genet; 1990 Oct; 27(10):627-31. PubMed ID: 2246771
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  • 6. Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome.
    Schmidt M, Certoma A, Du Sart D, Kalitsis P, Leversha M, Fowler K, Sheffield L, Jack I, Danks DM.
    Hum Genet; 1990 Mar; 84(4):347-52. PubMed ID: 2307456
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  • 7. 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.
    Am J Med Genet; 1994 Jul 15; 51(4):443-6. PubMed ID: 7943014
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  • 8. The inactivation of the fragile X chromosome in female carriers of the Martin Bell syndrome as studied by two different methods.
    Tuckerman E, Webb T.
    Clin Genet; 1989 Jul 15; 36(1):25-30. PubMed ID: 2766560
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  • 10. Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.
    Voelckel MA, Mattei MG, N'Guyen C, Philip N, Birg F, Mattei JF.
    Hum Genet; 1988 Dec 15; 80(4):375-8. PubMed ID: 2904402
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  • 12. Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.
    Rocchi M, Archidiacono N, Rinaldi A, Filippi G, Bartolucci G, Fancello GS, Siniscalco M.
    Am J Hum Genet; 1990 Apr 15; 46(4):738-43. PubMed ID: 2316520
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  • 14. Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association.
    Oberlé I, Boué J, Croquette MF, Voelckel MA, Mattei MG, Mandel JL.
    Am J Med Genet; 1990 Apr 15; 43(1-2):224-31. PubMed ID: 1605195
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  • 15. Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X.
    Nielsen KB, Tommerup N, Poulsen H, Jacobsen P, Beck B, Mikkelsen M.
    Hum Genet; 1983 Apr 15; 64(3):240-5. PubMed ID: 6885068
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  • 17. Clonal analysis of human tumors with M27 beta, a highly informative polymorphic X chromosomal probe.
    Fey MF, Peter HJ, Hinds HL, Zimmermann A, Liechti-Gallati S, Gerber H, Studer H, Tobler A.
    J Clin Invest; 1992 May 15; 89(5):1438-44. PubMed ID: 1349026
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  • 18. Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter syndrome.
    Voelckel MA, Pellissier MC, Piquet C, N'Guyen C, Boccaccio I, Philip N, Mattei JF.
    Am J Med Genet; 1991 May 15; 38(2-3):374-7. PubMed ID: 1673314
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  • 19. [Familial mental retardation and the fragile X syndrome].
    Veenema H, Pelckmans AJ, Geraedts JP, Van Leeuwen I, Zvelebil N.
    Tijdschr Kindergeneeskd; 1984 Feb 15; 52(1):9-15. PubMed ID: 6585033
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  • 20. Dermatoglyphic peculiarities in families with X-linked mental retardation and fragile site Xq27: a collaborative study.
    Rodewald A, Froster-Iskenius U, Käb E, Langenbeck U, Schinzel A, Schmidt A, Schwinger E, Steinbach P, Veenema H, Wegner RD.
    Clin Genet; 1986 Jul 15; 30(1):1-13. PubMed ID: 3757292
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