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Volumn 8, Issue 3, 2006, Pages 371-375

Technical validation of a Tm biosciences luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 33745972087     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2006.050115     Document Type: Article
Times cited : (25)

References (16)
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    • Cutting GR: Cystic fibrosis. Principles and Practice of Medical Genetics, vol 2. Edited by DL Rimoin, JM Lonnor, R Pyeritz, BR Kurt, London, Churchill Livingstone, 2002, pp 2685-2717
    • (2002) Principles and Practice of Medical Genetics , vol.2 , pp. 2685-2717
    • Cutting, G.R.1
  • 2
    • 20144380434 scopus 로고    scopus 로고
    • Diagnosis and management of cystic fibrosis
    • Smyth R: Diagnosis and management of cystic fibrosis. Arch Dis Child Educ Proct Ed 2005, 90:1-6
    • (2005) Arch Dis Child Educ Proct Ed , vol.90 , pp. 1-6
    • Smyth, R.1
  • 3
    • 9244263870 scopus 로고
    • ed 14. Philadelphia, PA, WB Saunders Co
    • Behrman RE: Nelson Textbook of Pediatrics, ed 14. Philadelphia, PA, WB Saunders Co., 1992, pp 1106-1116
    • (1992) Nelson Textbook of Pediatrics , pp. 1106-1116
    • Behrman, R.E.1
  • 5
    • 0004015177 scopus 로고    scopus 로고
    • American College of Obstetrics and Gynecology and American College of Medical Genetics: American College of Obstetrics and Gynecology, Washington, DC
    • American College of Obstetrics and Gynecology and American College of Medical Genetics: Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. American College of Obstetrics and Gynecology, Washington, DC, 2001
    • (2001) Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines
  • 6
    • 0036511852 scopus 로고    scopus 로고
    • Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians
    • Palomaki GE, Haddow JE, Bradley LA, FitzSimmons SC: Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med 2002, 4:90-94
    • (2002) Genet Med , vol.4 , pp. 90-94
    • Palomaki, G.E.1    Haddow, J.E.2    Bradley, L.A.3    FitzSimmons, S.C.4
  • 7
    • 85030603910 scopus 로고    scopus 로고
    • Hospital for Sick Children, Toronto: Cystic Fibrosis Mutation Database
    • Hospital for Sick Children, Toronto: Cystic Fibrosis Mutation Database, http://www.genet.sickkids.on.ca/cftr/
  • 8
    • 0036654506 scopus 로고    scopus 로고
    • Cystic fibrosis screening using the college panel: Platform comparison and lessons learned from the first 20,000 samples
    • Strom CM, Huang D, Buller A, Redman J, Crossley B, Anderson B, Entwistle T, Sun W: Cystic fibrosis screening using the college panel: platform comparison and lessons learned from the first 20,000 samples. Genet Med 2002, 4:289-296
    • (2002) Genet Med , vol.4 , pp. 289-296
    • Strom, C.M.1    Huang, D.2    Buller, A.3    Redman, J.4    Crossley, B.5    Anderson, B.6    Entwistle, T.7    Sun, W.8
  • 10
    • 1942476884 scopus 로고    scopus 로고
    • Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for l158T
    • Buller A, Olson S, Redman J, Strom CM: Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for l158T. Genet Med 2004, 6:108-109
    • (2004) Genet Med , vol.6 , pp. 108-109
    • Buller, A.1    Olson, S.2    Redman, J.3    Strom, C.M.4
  • 14
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    • Mutation detection, interpretation and application in the clinical laboratory setting
    • Strom CM: Mutation detection, interpretation and application in the clinical laboratory setting. Mutat Res 2005, 573:160-167
    • (2005) Mutat Res , vol.573 , pp. 160-167
    • Strom, C.M.1
  • 16
    • 28644448660 scopus 로고    scopus 로고
    • Technical validation of a multiplex platform to detect 30 mutations in 8 genetic diseases prevalent in individuals of Ashkenazi Jewish descent
    • Strom CM, Janeczko RA, Anderson B, Redman J, Quan F, Buller A, McGinniss M, Sun W: Technical validation of a multiplex platform to detect 30 mutations in 8 genetic diseases prevalent in individuals of Ashkenazi Jewish descent. Genet Med 2005, 7:633-639
    • (2005) Genet Med , vol.7 , pp. 633-639
    • Strom, C.M.1    Janeczko, R.A.2    Anderson, B.3    Redman, J.4    Quan, F.5    Buller, A.6    McGinniss, M.7    Sun, W.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.