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Journal Abstract Search

373 related items for PubMed ID: 2307456

  • 1.
    ; . PubMed ID:
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  • 2. Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.
    Dahl N, Hu LJ, Chery M, Fardeau M, Gilgenkrantz S, Nivelon-Chevallier A, Sidaner-Noisette I, Mugneret F, Gouyon JB, Gal A.
    Am J Hum Genet; 1995 May; 56(5):1108-15. PubMed ID: 7726166
    [Abstract] [Full Text] [Related]

  • 3. Chromosomal aberrations in the mildly mentally retarded.
    Göstason R, Wahlström J, Johannisson T, Holmqvist D.
    J Ment Defic Res; 1991 Jun; 35 ( Pt 3)():240-6. PubMed ID: 1833552
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  • 4. 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; 36(1):25-30. PubMed ID: 2766560
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  • 5. 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 Jul; 38(2-3):411-5. PubMed ID: 1673316
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  • 6. Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence.
    Tuckerman E, Webb T, Bundey SE.
    J Med Genet; 1985 Apr; 22(2):85-91. PubMed ID: 4039370
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  • 8. Microdissection of the fragile X region.
    MacKinnon RN, Hirst MC, Bell MV, Watson JE, Claussen U, Ludecke HJ, Senger G, Horsthemke B, Davies KE.
    Am J Hum Genet; 1990 Aug; 47(2):181-6. PubMed ID: 2378345
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  • 10. The fragile X chromosome.
    Sutherland GR.
    Int Rev Cytol; 1983 Aug; 81():107-43. PubMed ID: 6347931
    [No Abstract] [Full Text] [Related]

  • 11.
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  • 12. Fragile X syndrome in mildly mentally retarded children in a northern Swedish county. A prevalence study.
    Blomquist HK, Gustavson KH, Holmgren G, Nordenson I, Pålsson-Stråe U.
    Clin Genet; 1983 Dec; 24(6):393-8. PubMed ID: 6652951
    [Abstract] [Full Text] [Related]

  • 13. A cytogenetic study of a population of retarded females with special reference to the fragile (X) syndrome.
    Mayer M, Abruzzo MA, Jacobs PA, Yee SC.
    Hum Genet; 1985 Dec; 69(3):206-8. PubMed ID: 3980014
    [Abstract] [Full Text] [Related]

  • 14. Concurrence of the triple-X syndrome and expression of the fragile site Xq27.3.
    Fuster C, Templado C, Miró R, Barrios L, Egozcue J.
    Hum Genet; 1988 Mar; 78(3):293. PubMed ID: 3346020
    [Abstract] [Full Text] [Related]

  • 15. Effect of X inactivation on fragile X frequency and mental retardation.
    Rosenberg C, Vianna-Morgante AM, Otto PA, Navajas L.
    Am J Med Genet; 1991 Mar; 38(2-3):421-4. PubMed ID: 2018084
    [Abstract] [Full Text] [Related]

  • 16. Apparent homozygosity for the fragile site at Xq28 in a normal female.
    Nielsen KB, Tommerup N, Poulsen H, Mikkelsen M.
    Hum Genet; 1982 Mar; 61(1):60-2. PubMed ID: 7129428
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  • 17. Fragile X chromosome: clinical and cytogenetic studies on cases from seven families.
    McDermott A, Walters R, Howell RT, Gardner A.
    J Med Genet; 1983 Jun; 20(3):169-78. PubMed ID: 6876108
    [Abstract] [Full Text] [Related]

  • 18. An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.
    Quan F, Zonana J, Gunter K, Peterson KL, Magenis RE, Popovich BW.
    Am J Hum Genet; 1995 May; 56(5):1042-51. PubMed ID: 7726157
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  • 19.
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  • 20. Molecular characterization of a deleted X chromosome (Xq13.3-Xq21.31) exhibiting random X inactivation.
    Migeon BR, Stetten G, Tuck-Muller C, Axelman J, Jani M, Dungy D.
    Somat Cell Mol Genet; 1995 Mar; 21(2):113-20. PubMed ID: 7570183
    [Abstract] [Full Text] [Related]

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