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Volumn 127, Issue 12, 2003, Pages 1565-1572

Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations

(14)  Bernacki, Susan H a   Farkas, Daniel H b,k   Shi, Wenmei b   Chan, Vivian b,l   Liu, Yenbou b   Beck, Jeanne C c   Bailey, Karen Snow d,m   Pratt, Victoria M e,n   Monaghan, Kristin G f   Matteson, Karla J g   Schaefer, Frederick V h   Friez, Michael i   Shrimpton, Antony E j   Stenzel, Timothy T a,o  


Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0344737857     PISSN: 00039985     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (10)

References (24)
  • 1
    • 0035109041 scopus 로고    scopus 로고
    • Miniaturization technologies for molecular diagnostics
    • McGlennen RC. Miniaturization technologies for molecular diagnostics. Clin Chem. 2001;47:393-402.
    • (2001) Clin Chem , vol.47 , pp. 393-402
    • McGlennen, R.C.1
  • 2
    • 0034827540 scopus 로고    scopus 로고
    • Bioelectronic DNA chips for the clinical laboratory
    • Farkas DH. Bioelectronic DNA chips for the clinical laboratory. Clin Chem. 2001;47:1871-1872.
    • (2001) Clin Chem , vol.47 , pp. 1871-1872
    • Farkas, D.H.1
  • 3
    • 0034436177 scopus 로고    scopus 로고
    • Bioelectronic detection of point mutations using discrimination of the H63D polymorphism of the Hfe gene as a model
    • Umek RM, Lin SS, Chen Y-P, et al. Bioelectronic detection of point mutations using discrimination of the H63D polymorphism of the Hfe gene as a model. Mol Diagn. 2000;5:321-328.
    • (2000) Mol Diagn , vol.5 , pp. 321-328
    • Umek, R.M.1    Lin, S.S.2    Chen, Y.-P.3
  • 4
    • 0035014156 scopus 로고    scopus 로고
    • Electronic detection of nucleic acids: A versatile platform for molecular diagnostics
    • Umek RM, Lin SW, Vielmetter J, et al. Electronic detection of nucleic acids: a versatile platform for molecular diagnostics. J Mol Diagn. 2001;3:74-84.
    • (2001) J Mol Diagn , vol.3 , pp. 74-84
    • Umek, R.M.1    Lin, S.W.2    Vielmetter, J.3
  • 5
    • 0035861027 scopus 로고    scopus 로고
    • Electronic detection of single-base mismatches in DNA with ferrocene-modified probes
    • Yu CJ, Wan Y, Yowanto H, et al. Electronic detection of single-base mismatches in DNA with ferrocene-modified probes. J Am Chem Soc. 2001;123: 11155-11161.
    • (2001) J Am Chem Soc , vol.123 , pp. 11155-11161
    • Yu, C.J.1    Wan, Y.2    Yowanto, H.3
  • 6
    • 0035804906 scopus 로고    scopus 로고
    • 2′-Ribose-ferrocene oligonucleotides for electronic detection of nucleic acids
    • Yu CJ, Wang H, Wan Y, et al. 2′-Ribose-ferrocene oligonucleotides for electronic detection of nucleic acids. J Organic Chem. 2001;66:2937-3942.
    • (2001) J Organic Chem , vol.66 , pp. 2937-3942
    • Yu, C.J.1    Wang, H.2    Wan, Y.3
  • 7
    • 0345185977 scopus 로고    scopus 로고
    • Establishment of stably transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing
    • Stenzel TT, Bernacki SH, Beck JC, et al. Establishment of stably transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing. Am J Hum Genet. 2001;69: 438.
    • (2001) Am J Hum Genet , vol.69 , pp. 438
    • Stenzel, T.T.1    Bernacki, S.H.2    Beck, J.C.3
  • 8
    • 0141888407 scopus 로고    scopus 로고
    • Use of residual clinical blood samples to establish stable EBV transformed cell lines for PE/QA of molecular genetic testing
    • Stenzel TT, Bernacki SH, Beck JC, et al. Use of residual clinical blood samples to establish stable EBV transformed cell lines for PE/QA of molecular genetic testing. Genet Med. 2002;4:212.
    • (2002) Genet Med , vol.4 , pp. 212
    • Stenzel, T.T.1    Bernacki, S.H.2    Beck, J.C.3
  • 11
    • 0026057977 scopus 로고
    • A novel approach to establishing permanent lymphoblastoid cell lines: Epstein-Barr virus transformation of cryopreserved lymphocytes
    • Louie LG, King MC. A novel approach to establishing permanent lymphoblastoid cell lines: Epstein-Barr virus transformation of cryopreserved lymphocytes. Am J Hum Genet. 1991;48:637-638.
    • (1991) Am J Hum Genet , vol.48 , pp. 637-638
    • Louie, L.G.1    King, M.C.2
  • 13
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245: 1066-1073.
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.3
  • 14
    • 0036727811 scopus 로고    scopus 로고
    • Standards and guidelines for CFTR mutation testing
    • Richards CS, Bradley LA, Amos J, et al. Standards and guidelines for CFTR mutation testing [published correction appears in GenetMed. 2002;4:471]. Genet Med. 2002;4:379-391.
    • (2002) Genet Med , vol.4 , pp. 379-391
    • Richards, C.S.1    Bradley, L.A.2    Amos, J.3
  • 15
    • 0036727811 scopus 로고    scopus 로고
    • published correction appears
    • Richards CS, Bradley LA, Amos J, et al. Standards and guidelines for CFTR mutation testing [published correction appears in GenetMed. 2002;4:471]. Genet Med. 2002;4:379-391.
    • (2002) GenetMed , vol.4 , pp. 471
  • 16
    • 0035746363 scopus 로고    scopus 로고
    • Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
    • Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ, for the Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med. 2001;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
  • 17
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073-1080.
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.1    Rommens, J.M.2    Buchanan, J.A.3
  • 18
    • 0025909386 scopus 로고
    • Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Zielenski J, Bozon D, Kerem B, et al. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991;10:229-235.
    • (1991) Genomics , vol.10 , pp. 229-235
    • Zielenski, J.1    Bozon, D.2    Kerem, B.3
  • 19
    • 16944366526 scopus 로고    scopus 로고
    • Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%
    • Macek M Jr, Mackova A, Hamosh A, et al. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet. 1997;60:1122-1127.
    • (1997) Am J Hum Genet , vol.60 , pp. 1122-1127
    • Macek Jr., M.1    Mackova, A.2    Hamosh, A.3
  • 20
    • 0027533326 scopus 로고
    • High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens
    • Gervais R, Dumur V, Rigot JM, et al. High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. N Engl J Med. 1993;328:446-447.
    • (1993) N Engl J Med , vol.328 , pp. 446-447
    • Gervais, R.1    Dumur, V.2    Rigot, J.M.3
  • 21
    • 0027521663 scopus 로고
    • A mutation in CFTR produces different phenotypes depending on chromosomal background
    • Kiesewetter S, Macek M Jr, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genet. 1993;5:274-278.
    • (1993) Nature Genet , vol.5 , pp. 274-278
    • Kiesewetter, S.1    Macek Jr., M.2    Davis, C.3
  • 22
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet. 1996;13: 399-408.
    • (1996) Nature Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 23
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
    • Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood. 1999;93:2502-2505.
    • (1999) Blood , vol.93 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Ferec, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.