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Volumn 149, Issue 7, 2009, Pages 1375-1381

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG)

Author keywords

De novo; Genetic counseling; High normal alleles; Huntington disease; Intermediate alleles; Mutable normal alleles

Indexed keywords

ARTICLE; BIRTH RATE; BOOTSTRAPPING; DISEASE TRANSMISSION; GENE FREQUENCY; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; HUNTINGTON CHOREA; INCIDENCE; MALE; PATERNITY; PRIORITY JOURNAL; PROBABILITY; PROGENY;

EID: 67649887838     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32901     Document Type: Article
Times cited : (44)

References (27)
  • 1
    • 0031966959 scopus 로고    scopus 로고
    • Multipoint quantitative-trait linkage analysis in general pedigrees
    • DOI 10.1086/301844
    • Almasy L, Blangero J. 1998. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 62:1198-1211. (Pubitemid 28199022)
    • (1998) American Journal of Human Genetics , vol.62 , Issue.5 , pp. 1198-1211
    • Almasy, L.1    Blangero, J.2
  • 2
    • 0034780024 scopus 로고    scopus 로고
    • High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia
    • DOI 10.1034/j.1399-0004.2001.600305.x
    • Almqvist EW, Elterman DS, MacLeod PM, Hayden MR. 2001. High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin Genet 60:198-205. (Pubitemid 32982816)
    • (2001) Clinical Genetics , vol.60 , Issue.3 , pp. 198-205
    • Almqvist, E.W.1    Elterman, D.S.2    MacLeod, P.M.3    Hayden, M.R.4
  • 9
    • 0141617392 scopus 로고    scopus 로고
    • The analysis of survival data with a non-susceptible fraction and dual censoring mechanisms
    • Gagnon DR, Glickman ME, Myers RH, Cupples LA. 2003. The analysis of survival data with a non-susceptible fraction and dual censoring mechanisms. Stat Med 22:3249-3262.
    • (2003) Stat Med , vol.22 , pp. 3249-3262
    • Gagnon, D.R.1    Glickman, M.E.2    Myers, R.H.3    Cupples, L.A.4
  • 12
    • 33847694688 scopus 로고    scopus 로고
    • Autopsy-proven Huntington's disease with 29 trinucleotide repeats
    • Kenney C, Powell S, Jankovic J. 2007. Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord 22:127-130.
    • (2007) Mov Disord , vol.22 , pp. 127-130
    • Kenney, C.1    Powell, S.2    Jankovic, J.3
  • 13
    • 0028359603 scopus 로고
    • Incidence and prevalence of Huntington's disease in Olmsted County, Minnesota (1950 through 1989)
    • Kokmen E, Ozekmekci FS, Beard CM, O'Brien PC, Kurland LT. 1994. Incidence and prevalence of Huntington's disease in Olmsted County, Minnesota (1950 through 1989). Arch Neurol 51:696-698.
    • (1994) Arch Neurol , vol.51 , pp. 696-698
    • Kokmen, E.1    Ozekmekci, F.S.2    Beard, C.M.3    O'Brien, P.C.4    Kurland, L.T.5
  • 15
    • 0029075558 scopus 로고
    • Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes
    • Kremer B, Almqvist E, Theilmann J, Spence N, Telenius H, Goldberg YP, Hayden MR. 1995. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet 57:343-350.
    • (1995) Am J Hum Genet , vol.57 , pp. 343-350
    • Kremer, B.1    Almqvist, E.2    Theilmann, J.3    Spence, N.4    Telenius, H.5    Goldberg, Y.P.6    Hayden, M.R.7
  • 22
    • 0842327450 scopus 로고    scopus 로고
    • Technical Standards and Guidelines for Huntington Disease Testing
    • DOI 10.1097/01.GIM.0000106165.74751.15
    • Potter NT, Spector EB, Prior TW. 2004. Technical standards and guidelines for Huntington disease testing. Genet Med 6:61-65. (Pubitemid 38175981)
    • (2004) Genetics in Medicine , vol.6 , Issue.1 , pp. 61-65
    • Potter, N.T.1    Spector, E.B.2    Prior, T.W.3
  • 23
    • 57049183020 scopus 로고    scopus 로고
    • Autopsy-proven Huntington's disease with 29 trinucleotide repeats
    • Reynolds N. 2008. Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord 23:1795-1796.
    • (2008) Mov Disord , vol.23 , pp. 1795-1796
    • Reynolds, N.1
  • 24
    • 33748321965 scopus 로고    scopus 로고
    • Predictive testing for Huntington disease: Interpretation and significance of intermediate alleles
    • DOI 10.1111/j.1399-0004.2006.00668.x
    • Semaka A, Creighton S, Warby S, Hayden MR. 2006. Predictive testing for Huntington disease: Interpretation and significance of intermediate alleles. Clin Genet 70:283-294. (Pubitemid 44323391)
    • (2006) Clinical Genetics , vol.70 , Issue.4 , pp. 283-294
    • Semaka, A.1    Creighton, S.2    Warby, S.3    Hayden, M.A.4
  • 25
    • 57049092752 scopus 로고    scopus 로고
    • Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats
    • Semaka A, Warby S, Leavitt BR, Hayden MR. 2008. Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats. Mov Disord 23:1794-1795.
    • (2008) Mov Disord , vol.23 , pp. 1794-1795
    • Semaka, A.1    Warby, S.2    Leavitt, B.R.3    Hayden, M.R.4
  • 26
    • 0027275819 scopus 로고
    • A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes
    • DOI 10.1006/mcpr.1993.1034
    • Warner JP, Barron LH, Brock DJ. 1993. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol Cell Probes 7:235-239. (Pubitemid 23232244)
    • (1993) Molecular and Cellular Probes , vol.7 , Issue.3 , pp. 235-239
    • Warner, J.P.1    Barron, L.H.2    Brock, D.J.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.