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Journal Abstract Search

245 related items for PubMed ID: 23896435

  • 1. CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease.
    Semaka A, Kay C, Doty C, Collins JA, Bijlsma EK, Richards F, Goldberg YP, Hayden MR.
    J Med Genet; 2013 Oct; 50(10):696-703. PubMed ID: 23896435
    [Abstract] [Full Text] [Related]

  • 2. Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results.
    Semaka A, Hayden MR.
    Clin Genet; 2014 Apr; 85(4):303-11. PubMed ID: 24256063
    [Abstract] [Full Text] [Related]

  • 3. Predictive testing for Huntington disease: interpretation and significance of intermediate alleles.
    Semaka A, Creighton S, Warby S, Hayden MR.
    Clin Genet; 2006 Oct; 70(4):283-94. PubMed ID: 16965319
    [Abstract] [Full Text] [Related]

  • 4. Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses.
    Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg YP, Haddad BR, Richards F, Sillence D, Greenberg CR, Ives E, Van den Engh G, Hughes MR, Hayden MR.
    Hum Mol Genet; 1997 Feb; 6(2):301-9. PubMed ID: 9063751
    [Abstract] [Full Text] [Related]

  • 5. High frequency of intermediate alleles on Huntington disease-associated haplotypes in British Columbia's general population.
    Semaka A, Kay C, Doty CN, Collins JA, Tam N, Hayden MR.
    Am J Med Genet B Neuropsychiatr Genet; 2013 Dec; 162B(8):864-71. PubMed ID: 24038799
    [Abstract] [Full Text] [Related]

  • 6. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.
    Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius H, Adam S, Sajoo A, Starr E.
    Nat Genet; 1993 Oct; 5(2):174-9. PubMed ID: 8252043
    [Abstract] [Full Text] [Related]

  • 7. Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles).
    Semaka A, Collins JA, Hayden MR.
    Am J Med Genet B Neuropsychiatr Genet; 2010 Jan 05; 153B(1):314-20. PubMed ID: 19455596
    [Abstract] [Full Text] [Related]

  • 8. A new mutation for Huntington disease following maternal transmission of an intermediate allele.
    Semaka A, Kay C, Belfroid RD, Bijlsma EK, Losekoot M, van Langen IM, van Maarle MC, Oosterloo M, Hayden MR, van Belzen MJ.
    Eur J Med Genet; 2015 Jan 05; 58(1):28-30. PubMed ID: 25464109
    [Abstract] [Full Text] [Related]

  • 9. Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice.
    Larson E, Fyfe I, Morton AJ, Monckton DG.
    Neurobiol Dis; 2015 Apr 05; 76():98-111. PubMed ID: 25662336
    [Abstract] [Full Text] [Related]

  • 10. Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.
    Williams LC, Hegde MR, Nagappan R, Faull RL, Giles J, Winship I, Snow K, Love DR.
    Genet Test; 2000 Apr 05; 4(1):55-60. PubMed ID: 10794362
    [Abstract] [Full Text] [Related]

  • 11. Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
    Ruiz de Sabando A, Ciosi M, Galbete A, Cumming SA, Spanish HD Collaborative Group, Monckton DG, Ramos-Arroyo MA.
    Eur J Hum Genet; 2024 Jul 05; 32(7):770-778. PubMed ID: 38433266
    [Abstract] [Full Text] [Related]

  • 12. Exploring the correlates of intermediate CAG repeats in Huntington disease.
    Ha AD, Jankovic J.
    Postgrad Med; 2011 Sep 05; 123(5):116-21. PubMed ID: 21904093
    [Abstract] [Full Text] [Related]

  • 13. The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population.
    Kay C, Collins JA, Wright GEB, Baine F, Miedzybrodzka Z, Aminkeng F, Semaka AJ, McDonald C, Davidson M, Madore SJ, Gordon ES, Gerry NP, Cornejo-Olivas M, Squitieri F, Tishkoff S, Greenberg JL, Krause A, Hayden MR.
    Am J Med Genet B Neuropsychiatr Genet; 2018 Apr 05; 177(3):346-357. PubMed ID: 29460498
    [Abstract] [Full Text] [Related]

  • 14. Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease.
    Aziz NA, van Belzen MJ, Coops ID, Belfroid RD, Roos RA.
    Eur J Med Genet; 2011 Apr 05; 54(4):e413-8. PubMed ID: 21540131
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  • 18. Enhanced Detection and Sizing of the HTT CAG Repeat Expansion in Huntington Disease Using an Improved Triplet-Primed PCR Assay.
    Zhao M, Lee CG, Law HY, Chong SS.
    Neurodegener Dis; 2016 Apr 05; 16(5-6):348-51. PubMed ID: 27207688
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  • 20. Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.
    Leeflang EP, Zhang L, Tavaré S, Hubert R, Srinidhi J, MacDonald ME, Myers RH, de Young M, Wexler NS, Gusella JF.
    Hum Mol Genet; 1995 Sep 05; 4(9):1519-26. PubMed ID: 8541834
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