메뉴 건너뛰기




Volumn 9, Issue 10, 2007, Pages 719-723

Development of genomic reference materials for Huntington disease genetic testing

(18)  Kalman, Lisa a   Johnson, Monique A b   Beck, Jeanne c   Berry Kravis, Elizabeth d   Buller, Arlene e   Casey, Brett f   Feldman, Gerald L g   Handsfield, James a   Jakupciak, John P h   Maragh, Samantha h   Matteson, Karla i   Muralidharan, Kasinathan j   Richie, Kristy L h   Rohlfs, Elizabeth M k   Schaefer, Frederick l   Sellers, Tina c   Spector, Elaine m   Richards, C Sue b  


Author keywords

CAG repeats; Genetic testing; Huntington disease; Quality control; Reference materials

Indexed keywords

DNA;

EID: 37349007670     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318156e8c1     Document Type: Article
Times cited : (19)

References (27)
  • 1
    • 37349004734 scopus 로고    scopus 로고
    • Available at:, Accessed December 1
    • GeneReviews. Huntington Disease. Available at: http://www.genereviews. org. Accessed December 1, 2006.
    • (2006) Huntington Disease
    • GeneReviews1
  • 2
    • 0021028244 scopus 로고
    • A polymorphic DNA marker genetically linked to Huntington's disease
    • Gusella JF, Wexler NS, Conneally PM Naylor SL. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983;306:234-238.
    • (1983) Nature , vol.306 , pp. 234-238
    • Gusella, J.F.1    Wexler, N.S.2    Conneally, P.M.3    Naylor, S.L.4
  • 3
    • 0028260436 scopus 로고
    • Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat
    • Ambrose CM, Duyao MP, Barnes G, Bates GP. Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat. Somat Cell Mol Genet 1994;20:27-38.
    • (1994) Somat Cell Mol Genet , vol.20 , pp. 27-38
    • Ambrose, C.M.1    Duyao, M.P.2    Barnes, G.3    Bates, G.P.4
  • 4
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group
    • The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 5
    • 0032065590 scopus 로고    scopus 로고
    • ACMG/ASHG Statement. Laboratory guidelines for Huntington disease genetic testing
    • Nance MA, Seltzer W, Ashizawa T, Bennett R, et al. ACMG/ASHG Statement. Laboratory guidelines for Huntington disease genetic testing. Am J Hum Genet 1998;62: 1243-1247.
    • (1998) Am J Hum Genet , vol.62 , pp. 1243-1247
    • Nance, M.A.1    Seltzer, W.2    Ashizawa, T.3    Bennett, R.4
  • 6
    • 79551613053 scopus 로고    scopus 로고
    • American College of Medical Genetics, Available at: Accessed December 4
    • American College of Medical Genetics. Technical Standards and Guidelines for Huntington Disease, 2006. Available at: http://www.acmg.net/Pages/ ACMG_Activities/stds-2002/HD.htm Accessed December 4, 2006.
    • (2006) Technical Standards and Guidelines for Huntington Disease, 2006
  • 8
    • 27444437481 scopus 로고    scopus 로고
    • Genetically characterized positive control cell lines derived from residual clinical blood samples
    • Bernacki SH, Beck JC, Stankovic AK, Williams LO. Genetically characterized positive control cell lines derived from residual clinical blood samples. Clin Chem 2005; 51:2013-2024.
    • (2005) Clin Chem , vol.51 , pp. 2013-2024
    • Bernacki, S.H.1    Beck, J.C.2    Stankovic, A.K.3    Williams, L.O.4
  • 9
    • 85205872368 scopus 로고    scopus 로고
    • Code of Federal Regulations. The Clinical Laboratory Improvement Amendments (CLIA). 42 CFR Part 493. (1256). Available at: http://www.access.gpo. gov/nara/cfr/waisidx_03/42cfr493_03.html Accessed December 4, 2006.
    • Code of Federal Regulations. The Clinical Laboratory Improvement Amendments (CLIA). 42 CFR Part 493. (1256). Available at: http://www.access.gpo. gov/nara/cfr/waisidx_03/42cfr493_03.html Accessed December 4, 2006.
  • 10
    • 27644534226 scopus 로고    scopus 로고
    • Developing a sustainable process to provide quality control materials for genetic testing
    • Chen B, O'Connell CD, Boone DJ, Amos JA, et al. Developing a sustainable process to provide quality control materials for genetic testing. Genet Med 2005;7:534-549.
    • (2005) Genet Med , vol.7 , pp. 534-549
    • Chen, B.1    O'Connell, C.D.2    Boone, D.J.3    Amos, J.A.4
  • 13
    • 42649138817 scopus 로고    scopus 로고
    • The European Molecular Genetics Quality Network, Available at: Accessed December 4
    • The European Molecular Genetics Quality Network. Best Practice Guidelines. Available at: http://www.emqn.org/emqn/BestPractice.html Accessed December 4, 2006.
    • (2006) Best Practice Guidelines
  • 15
    • 85205851074 scopus 로고    scopus 로고
    • New York State Clinical Laboratory Evaluation Program CLEP, Available at: Accessed January 23
    • New York State Clinical Laboratory Evaluation Program (CLEP) Laboratory Standards. Available at: http://www.wadsworth.org/labcert/clep/clep.html Accessed January 23, 2007.
    • (2007) Laboratory Standards
  • 18
    • 0033066787 scopus 로고    scopus 로고
    • Recommendations for in-house development and operation of molecular diagnostic tests
    • Association for Molecular Pathology statement
    • Association for Molecular Pathology statement. Recommendations for in-house development and operation of molecular diagnostic tests. Am J Clin Pathol 1999; 111:449-463.
    • (1999) Am J Clin Pathol , vol.111 , pp. 449-463
  • 19
    • 85205866428 scopus 로고    scopus 로고
    • Williams LO, Cole EC, Lubin IM, Iglesias NI, et al. Quality assurance in human molecular genetics testing- Status and recommendations. Arch Pathol Lab Med 2003;1271353-1358.
    • Williams LO, Cole EC, Lubin IM, Iglesias NI, et al. Quality assurance in human molecular genetics testing- Status and recommendations. Arch Pathol Lab Med 2003;1271353-1358.
  • 21
    • 85205836587 scopus 로고    scopus 로고
    • Centers for Disease Control and Prevention, Available at: Accessed June 5
    • Centers for Disease Control and Prevention. Genetic Testing Reference Material Coordination Program. Available at: http://www.cdc.gov/dls/genetics/ qcmaterials/default.aspx Accessed June 5, 2007.
    • (2007) Genetic Testing Reference Material Coordination Program
  • 22
    • 85205835589 scopus 로고    scopus 로고
    • Beck JC, Beiswanger CM, John EM, Satraiano, West, D. Successful transformation of cryopreserved lymphocytes: a resource for epidemiological studies. Cancer Epidemiol Biomarkers Prev 2001;10:551-554.
    • Beck JC, Beiswanger CM, John EM, Satraiano, West, D. Successful transformation of cryopreserved lymphocytes: a resource for epidemiological studies. Cancer Epidemiol Biomarkers Prev 2001;10:551-554.
  • 23
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 25
    • 0032848026 scopus 로고    scopus 로고
    • Neural network input representations that produce accurate consensus sequences from DNA fragment assemblies
    • Allex CF, Shavlik JW, Blattner FR. Neural network input representations that produce accurate consensus sequences from DNA fragment assemblies. Bioinformatics 1999;15:723-728.
    • (1999) Bioinformatics , vol.15 , pp. 723-728
    • Allex, C.F.1    Shavlik, J.W.2    Blattner, F.R.3
  • 26


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.