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Volumn 11, Issue 3, 2007, Pages 256-268

One multiplex control for 29 cystic fibrosis mutations

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PLASMID VECTOR;

EID: 35348950054     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.9994     Document Type: Article
Times cited : (3)

References (12)
  • 2
    • 27644534226 scopus 로고    scopus 로고
    • Chen B, Connell CD, Boone DJ, Amos JA, Beck JC, Chan MM, Farkas DH, Lebo RV, Richards CS, Roa BB, Silverman LM, Barton DE, Bejjani BA, Belloni D, Bernacki B, Brown NM, Aviles-Caffana M, Charache P, Dequeker E, Ferreira-Gonzalez A, Friedman KJ, Greene CL, Grody WW, Highsmith WE, Hinkel C, Lubin IM, Lyon E, Noll WW, Payne D, Pratt VM, Reid Y, Rundell C, Schneider E, Terry P, Willey A, Willey J, Williams LO, Win Deen E, Wolff DJ (2005) Developing a sustainable process to provide quality control materials for genetic testing. Genet Med 7:534-549.
    • Chen B, Connell CD, Boone DJ, Amos JA, Beck JC, Chan MM, Farkas DH, Lebo RV, Richards CS, Roa BB, Silverman LM, Barton DE, Bejjani BA, Belloni D, Bernacki B, Brown NM, Aviles-Caffana M, Charache P, Dequeker E, Ferreira-Gonzalez A, Friedman KJ, Greene CL, Grody WW, Highsmith WE, Hinkel C, Lubin IM, Lyon E, Noll WW, Payne D, Pratt VM, Reid Y, Rundell C, Schneider E, Terry P, Willey A, Willey J, Williams LO, Win Deen E, Wolff DJ (2005) Developing a sustainable process to provide quality control materials for genetic testing. Genet Med 7:534-549.
  • 3
    • 0035746363 scopus 로고    scopus 로고
    • Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
    • Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ (2001) Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3:149-154.
    • (2001) Genet Med , vol.3 , pp. 149-154
    • Grody, W.W.1    Cutting, G.R.2    Klinger, K.W.3    Richards, C.S.4    Watson, M.S.5    Desnick, R.J.6
  • 4
    • 0024520745 scopus 로고
    • Site-directed mutagenesis by overlap extension using the polymerase chain reaction
    • Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR (1989) Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 77:51-59.
    • (1989) Gene , vol.77 , pp. 51-59
    • Ho, S.N.1    Hunt, H.D.2    Horton, R.M.3    Pullen, J.K.4    Pease, L.R.5
  • 5
    • 35348965311 scopus 로고    scopus 로고
    • Synthesized multiple control sequences optimize quality control
    • U.S. Patent application No. 60.503233. U.S. Patent and Trademark Office, Alexandria, VA
    • Lebo RV, Milunsky A, Wang Z, Yamin M (2000) Synthesized multiple control sequences optimize quality control. U.S. Patent application No. 60.503233. U.S. Patent and Trademark Office, Alexandria, VA.
    • (2000)
    • Lebo, R.V.1    Milunsky, A.2    Wang, Z.3    Yamin, M.4
  • 6
    • 35349001323 scopus 로고    scopus 로고
    • Lebo RV, Dunphy G, Quicci M, Galehouse D, Lebo RV (2003) Synthesized multiple control DNA sequences optimize genomic test quality control. In Developing QC materials for genetic testing. Centers for Disease Control and Dept. Health and Human Services, pp. 6-1-6-5.
    • Lebo RV, Dunphy G, Quicci M, Galehouse D, Lebo RV (2003) Synthesized multiple control DNA sequences optimize genomic test quality control. In Developing QC materials for genetic testing. Centers for Disease Control and Dept. Health and Human Services, pp. 6-1-6-5.
  • 7
    • 35349022197 scopus 로고    scopus 로고
    • Multiple synthesized and cloned controls optimize clinical test quality. Centers for Disease Control
    • Orland, FL
    • Lebo RV, Dunphy G, Quicci M, Galehouse D (2004) Multiple synthesized and cloned controls optimize clinical test quality. Centers for Disease Control, ACMG Satellite Meeting, Orland, FL.
    • (2004) ACMG Satellite Meeting
    • Lebo, R.V.1    Dunphy, G.2    Quicci, M.3    Galehouse, D.4
  • 8
    • 34147125373 scopus 로고    scopus 로고
    • Testing and reporting ACMC Cystic Fibrosis Panel results
    • Lebo RV, Grody WW (2007a) Testing and reporting ACMC Cystic Fibrosis Panel results. Genet Test 11(1):11-31.
    • (2007) Genet Test , vol.11 , Issue.1 , pp. 11-31
    • Lebo, R.V.1    Grody, W.W.2
  • 9
    • 34147148573 scopus 로고    scopus 로고
    • Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene
    • Lebo RV, Grody WW (2007b) Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene. Genet Test 11(1):32-44.
    • (2007) Genet Test , vol.11 , Issue.1 , pp. 32-44
    • Lebo, R.V.1    Grody, W.W.2
  • 10
    • 0004064303 scopus 로고
    • The Macmillian Company, New York, p
    • Strickberger MW (1968) Genetics. The Macmillian Company, New York, p. 54.
    • (1968) Genetics , pp. 54
    • Strickberger, M.W.1
  • 11
    • 0035988508 scopus 로고    scopus 로고
    • Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens
    • Wang Z, Milunsky J, Yamin M, Maher T, Oates R, Milunsky A (2002) Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. Hum Reprod 17:2066-2072.
    • (2002) Hum Reprod , vol.17 , pp. 2066-2072
    • Wang, Z.1    Milunsky, J.2    Yamin, M.3    Maher, T.4    Oates, R.5    Milunsky, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.