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Volumn 62, Issue 5, 1998, Pages 1243-1247

Laboratory guidelines for huntington disease genetic testing

Author keywords

[No Author keywords available]

Indexed keywords

GENETIC ANALYSIS; GOOD LABORATORY PRACTICE; HUMAN; HUNTINGTON CHOREA; MEDICAL SOCIETY; PRACTICE GUIDELINE; PRIORITY JOURNAL; REVIEW; STANDARDIZATION; TRINUCLEOTIDE REPEAT;

EID: 0031971718     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301846     Document Type: Article
Times cited : (71)

References (38)
  • 2
    • 0027176364 scopus 로고
    • The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
    • Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, et al (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 4:398-403
    • (1993) Nat Genet , vol.4 , pp. 398-403
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3    Telenius, H.4    Theilmann, J.5    Adam, S.6    Starr, E.7
  • 3
    • 0028177342 scopus 로고
    • A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing
    • Andrew SE, Goldberg YP, Theilmann J, Zeisler J, Hayden MR (1994) A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 3:65-68
    • (1994) Hum Mol Genet , vol.3 , pp. 65-68
    • Andrew, S.E.1    Goldberg, Y.P.2    Theilmann, J.3    Zeisler, J.4    Hayden, M.R.5
  • 7
    • 0042115272 scopus 로고    scopus 로고
    • 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, La Tray L, Nichol K, Bourdelat-Parks B, Goldberg YP, et al (1997) Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet 6:301-309
    • (1997) Hum Mol Genet , vol.6 , pp. 301-309
    • Chong, S.S.1    Almqvist, E.2    Telenius, H.3    La Tray, L.4    Nichol, K.5    Bourdelat-Parks, B.6    Goldberg, Y.P.7
  • 9
    • 0027359989 scopus 로고
    • 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, et al (1993) Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet 5:174-179
    • (1993) Nat Genet , vol.5 , pp. 174-179
    • Goldberg, Y.P.1    Kremer, B.2    Andrew, S.E.3    Theilmann, J.4    Graham, R.K.5    Squitieri, F.6    Telenius, H.7
  • 10
    • 0028882509 scopus 로고
    • Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
    • Goldberg YP, McMurray CT, Zeisler J, Almqvist E, Sillence D, Richards F, Marquis Gacy A, et al (1995) Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 4: 1911-1918
    • (1995) Hum Mol Genet , vol.4 , pp. 1911-1918
    • Goldberg, Y.P.1    McMurray, C.T.2    Zeisler, J.3    Almqvist, E.4    Sillence, D.5    Richards, F.6    Marquis Gacy, A.7
  • 12
    • 0028031125 scopus 로고
    • Guidelines for the molecular genetics predictive test in Huntington's disease
    • Guidelines for the molecular genetics predictive test in Huntington's disease (1994) Neurology 44:1533-1536
    • (1994) Neurology , vol.44 , pp. 1533-1536
  • 13
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group, The (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983
    • (1993) Cell , vol.72 , pp. 971-983
  • 14
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
    • Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier J-M, Weber C, et al (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:285-291
    • (1996) Nat Genet , vol.14 , pp. 285-291
    • Imbert, G.1    Saudou, F.2    Yvert, G.3    Devys, D.4    Trottier, Y.5    Garnier, J.-M.6    Weber, C.7
  • 16
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarishi S, Endo K, Takahashi H, et al (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13
    • (1994) Nat Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3    Tanaka, H.4    Igarishi, S.5    Endo, K.6    Takahashi, H.7
  • 17
    • 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
  • 18
    • 0028316870 scopus 로고
    • A worldwide study of the Huntington's disease mutation: The sensitivity and specificity of measuring CAG repeats
    • Kremer B, Goldberg YP, Andrew SE, Theilmann J, Telenius H, Zeisler J, Squitieri F, et al (1994) A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats. N Engl J Med 330: 1401-1406
    • (1994) N Engl J Med , vol.330 , pp. 1401-1406
    • Kremer, B.1    Goldberg, Y.P.2    Andrew, S.E.3    Theilmann, J.4    Telenius, H.5    Zeisler, J.6    Squitieri, F.7
  • 19
  • 20
    • 0029084074 scopus 로고
    • Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum
    • Leeflang EP, Zhang L, Tavar S, Hubert R, Srinidhi R, MacDonald ME, Myers RH, et al (1995) Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum Mol Genet 4:1519-1526
    • (1995) Hum Mol Genet , vol.4 , pp. 1519-1526
    • Leeflang, E.P.1    Zhang, L.2    Tavar, S.3    Hubert, R.4    Srinidhi, R.5    MacDonald, M.E.6    Myers, R.H.7
  • 24
    • 0001484521 scopus 로고
    • Evidence of an unstable paternal 27 CAG repeat allele in the huntingtin gene giving rise to clinically overt Huntington disease in a patient with the genotype (17/38)
    • McGlennan RC, Allinson PS, Matthias-Hagen VL, Parker TL, Lovell MA, Kelley TA (1995) Evidence of an unstable paternal 27 CAG repeat allele in the huntingtin gene giving rise to clinically overt Huntington disease in a patient with the genotype (17/38). Am J Hum Genet Suppl 57:A246
    • (1995) Am J Hum Genet Suppl , vol.57
    • McGlennan, R.C.1    Allinson, P.S.2    Matthias-Hagen, V.L.3    Parker, T.L.4    Lovell, M.A.5    Kelley, T.A.6
  • 27
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
    • Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, et al (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 6:14-18
    • (1994) Nat Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3    Shirayama, T.4    Ohsaki, E.5    Bundo, M.6    Takeda, T.7
  • 28
    • 0029980133 scopus 로고    scopus 로고
    • Huntington disease - Another chapter rewritten
    • Nance MA (1996) Huntington disease - another chapter rewritten. Am J Hum Genet 59:1-6
    • (1996) Am J Hum Genet , vol.59 , pp. 1-6
    • Nance, M.A.1
  • 31
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of an unstable of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
    • Pulst S-M, Nechiporuk A, Nechiporuk T, Gispert S, Chen X-N, Lopes-Cendes I, Perlman S, et al (1996) Moderate expansion of an unstable of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14: 269-276
    • (1996) Nat Genet , vol.14 , pp. 269-276
    • Pulst, S.-M.1    Nechiporuk, A.2    Nechiporuk, T.3    Gispert, S.4    Chen, X.-N.5    Lopes-Cendes, I.6    Perlman, S.7
  • 32
    • 0029997090 scopus 로고    scopus 로고
    • Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
    • Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman J-J, Chotai K, et al (1996) Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 59:16-22
    • (1996) Am J Hum Genet , vol.59 , pp. 16-22
    • Rubinsztein, D.C.1    Leggo, J.2    Coles, R.3    Almqvist, E.4    Biancalana, V.5    Cassiman, J.-J.6    Chotai, K.7
  • 33
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
    • Sanpei K, Takano H, Igarishi S, Sato T, Oyake M, Sasaki H, Wakisaka A, et al (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14: 277-284
    • (1996) Nat Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarishi, S.3    Sato, T.4    Oyake, M.5    Sasaki, H.6    Wakisaka, A.7
  • 36
    • 0027275819 scopus 로고
    • A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on HD chromosomes
    • Warner JP, Barron LH, Brock DJH (1993) A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on HD chromosomes. Mol Cell Probes 7:235-239
    • (1993) Mol Cell Probes , vol.7 , pp. 235-239
    • Warner, J.P.1    Barron, L.H.2    Brock, D.J.H.3
  • 37
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small expansions in the α1A-voltage-dependent calcium channel
    • Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, et al (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small expansions in the α1A-voltage-dependent calcium channel. Nat Genet 15:62-69
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3    Ashizawa, T.4    Stockton, D.W.5    Amos, C.6    Dobyns, W.B.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.