메뉴 건너뛰기




Volumn 24, Issue 1, 2006, Pages 86-93

Technology platforms for molecular diagnosis of cystic fibrosis

Author keywords

ASO dot blot; Cystic fibrosis; Microarray; Oligo ligation assay; Proteomics; Reverse dot blot

Indexed keywords

BIOASSAY; DIAGNOSIS; ENZYMES; GENETIC ENGINEERING; MUTAGENESIS;

EID: 28244466938     PISSN: 07349750     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.biotechadv.2005.08.003     Document Type: Review
Times cited : (24)

References (18)
  • 1
    • 0034777138 scopus 로고    scopus 로고
    • Fluorescent, multiplexed, automated, primer-extension assay for 3120 + 1G → a and I148T mutations in cystic fibrosis
    • N.M. Brown, S. Bernacki, V.M. Pratt, and T.T. Stenzel Fluorescent, multiplexed, automated, primer-extension assay for 3120 + 1G → A and I148T mutations in cystic fibrosis Clin Chem 47 2001 2053 2055
    • (2001) Clin Chem , vol.47 , pp. 2053-2055
    • Brown, N.M.1    Bernacki, S.2    Pratt, V.M.3    Stenzel, T.T.4
  • 2
    • 0032788968 scopus 로고    scopus 로고
    • Detection of five rare cystic fibrosis mutations peculiar to southern Italy: Implications in screening for the disease and phenotype characterization for patients with homozygote mutations
    • G. Castaldo, A. Fuccio, C. Cazeneuve, L. Picci, D. Salvatore, and V. Raia Detection of five rare cystic fibrosis mutations peculiar to southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations Clin Chem 45 1999 957 962
    • (1999) Clin Chem , vol.45 , pp. 957-962
    • Castaldo, G.1    Fuccio, A.2    Cazeneuve, C.3    Picci, L.4    Salvatore, D.5    Raia, V.6
  • 3
    • 0034950149 scopus 로고    scopus 로고
    • Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR
    • G. Feriotto, A. Ferlini, A. Ravani, E. Calzolari, C. Mischiati, and N. Bianchi Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR Hum Mutat 18 2001 70 81
    • (2001) Hum Mutat , vol.18 , pp. 70-81
    • Feriotto, G.1    Ferlini, A.2    Ravani, A.3    Calzolari, E.4    Mischiati, C.5    Bianchi, N.6
  • 4
    • 0025732022 scopus 로고
    • Back to the chloride channel
    • R.A. Frizzell, and W.H. Cliff Back to the chloride channel Nature 350 1991 277 278
    • (1991) Nature , vol.350 , pp. 277-278
    • Frizzell, R.A.1    Cliff, W.H.2
  • 7
    • 0003452177 scopus 로고    scopus 로고
    • Hospital for sick children, Toronto. Cystic fibrosis mutation database. http://www.genet.sickkids.on.ca/cftr/; 2005
    • (2005) Cystic Fibrosis Mutation Database
  • 9
    • 0042978442 scopus 로고    scopus 로고
    • From peapods to laboratory medicine: Molecular diagnostics of inheritable diseases
    • Kaufman HW, Strom, CM. From peapods to laboratory medicine: molecular diagnostics of inheritable diseases. MLO Med Lab Obs 2003;35:30-2, 36, 38, 40.
    • (2003) MLO Med Lab Obs , vol.35 , pp. 30-32
    • Kaufman, H.W.1    Strom, C.M.2
  • 10
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: Chromosome walking and jumping
    • J.M. Rommens, M.C. Ianuzzi, B.S. Kerem, M.L. Drum, G. Melmer, and M. Dean Identification of the cystic fibrosis gene: chromosome walking and jumping Science 245 1989 1059 1065
    • (1989) Science , vol.245 , pp. 1059-1065
    • Rommens, J.M.1    Ianuzzi, M.C.2    Kerem, B.S.3    Drum, M.L.4    Melmer, G.5    Dean, M.6
  • 12
    • 0023022499 scopus 로고
    • Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes
    • R.K. Saiki, T.L. Bugawan, G.T. Horn, K.B. Mullis, and H.A. Erlich Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes Nature 324 1986 163 166
    • (1986) Nature , vol.324 , pp. 163-166
    • Saiki, R.K.1    Bugawan, T.L.2    Horn, G.T.3    Mullis, K.B.4    Erlich, H.A.5
  • 13
    • 0001442557 scopus 로고
    • Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes
    • R.K. Saiki, P.S. Walsh, C.H. Levenson, and H.A. Erlich Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes Proc Natl Acad Sci 86 1989 6230 6234
    • (1989) Proc Natl Acad Sci , vol.86 , pp. 6230-6234
    • Saiki, R.K.1    Walsh, P.S.2    Levenson, C.H.3    Erlich, H.A.4
  • 14
    • 0345874798 scopus 로고    scopus 로고
    • Towards preimplantation diagnosis of cystic fibrosis using microarrays
    • C.S. Salvado, A.O. Trounson, and D.S. Cram Towards preimplantation diagnosis of cystic fibrosis using microarrays Reprod Biomed Online 8 2004 107 114
    • (2004) Reprod Biomed Online , vol.8 , pp. 107-114
    • Salvado, C.S.1    Trounson, A.O.2    Cram, D.S.3
  • 15
    • 0031686256 scopus 로고    scopus 로고
    • DNA diagnosis of cystic fibrosis
    • M.J. Schwarz DNA diagnosis of cystic fibrosis Ann Clin Biochem 35 1998 584 610
    • (1998) Ann Clin Biochem , vol.35 , pp. 584-610
    • Schwarz, M.J.1
  • 16
    • 0033988142 scopus 로고    scopus 로고
    • Screening unlabeled DNA targets with randomly ordered fiber-optic gene arrays
    • F.J. Steemers, J.A. Ferguson, and D.R. Walt Screening unlabeled DNA targets with randomly ordered fiber-optic gene arrays Nat Biotechnol 18 2000 91 94
    • (2000) Nat Biotechnol , vol.18 , pp. 91-94
    • Steemers, F.J.1    Ferguson, J.A.2    Walt, D.R.3
  • 17
    • 0004045704 scopus 로고    scopus 로고
    • 2nd ed Pearson education limited Harlow (England)
    • P. Sudbery Human molecular genetics 2nd ed 2002 Pearson education limited Harlow (England) 147-52 257-58
    • (2002) Human Molecular Genetics , pp. 147-152
    • Sudbery, P.1
  • 18
    • 0037214955 scopus 로고    scopus 로고
    • Molecular diagnosis of cystic fibrosis: Comparison of four analytical procedures
    • R. Tomaiuolo, M. Spina, and G. Castaldo Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures Clin Chem Lab Med 41 2003 26 32
    • (2003) Clin Chem Lab Med , vol.41 , pp. 26-32
    • Tomaiuolo, R.1    Spina, M.2    Castaldo, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.