메뉴 건너뛰기




Volumn 17, Issue 1, 1997, Pages 59-72

Molecular diagnostics for cystic fibrosis

Author keywords

[No Author keywords available]

Indexed keywords

DNA; LIPOSOME; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0030944246     PISSN: 02722712     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0272-2712(18)30231-2     Document Type: Review
Times cited : (3)

References (41)
  • 1
    • 0026699908 scopus 로고
    • Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population
    • Abeliovich D. Pashut Lavon I. Lerer I. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population Am J Hum Genet 51 1992 951 956
    • (1992) Am J Hum Genet , vol.51 , pp. 951-956
    • Abeliovich, D.1    Pashut Lavon, I.2    Lerer, I.3
  • 2
    • 0028947558 scopus 로고
    • Alton EWFW, Geddes DM: Gene therapy for cystic fibrosis: A clinical perspective
    • Alton EWFW, Geddes DM: Gene therapy for cystic fibrosis: A clinical perspective Gene Therapy 2 1995 88 95
    • (1995) Gene Therapy , vol.2 , pp. 88-95
  • 3
    • 0026678493 scopus 로고
    • American Society of Human Genetics: Statement of the American Society of Human Genetics on cystic fibrosis carrier screening
    • American Society of Human Genetics: Statement of the American Society of Human Genetics on cystic fibrosis carrier screening Am J Hum Genet 51 1992 1443 1444
    • (1992) Am J Hum Genet , vol.51 , pp. 1443-1444
  • 4
    • 85114537189 scopus 로고
    • American Society of Human Genetics Board of Directors: The American Society of Human Genetics statement of cystic fibrosis screening
    • American Society of Human Genetics Board of Directors: The American Society of Human Genetics statement of cystic fibrosis screening Am J Hum Genet 46 1990 393
    • (1990) Am J Hum Genet , vol.46 , pp. 393
  • 5
    • 0027203994 scopus 로고
    • Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H
    • Bienvenu T. Beldjord C. Adjiman M. Kaplan J.C. Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H J Med Genet 30 1993 797
    • (1993) J Med Genet , vol.30 , pp. 797
    • Bienvenu, T.1    Beldjord, C.2    Adjiman, M.3    Kaplan, J.C.4
  • 6
    • 0030064794 scopus 로고    scopus 로고
    • Prenatal screening for cystic fibrosis: 5 years' experience reviewed
    • Brock D.J.H. Prenatal screening for cystic fibrosis: 5 years' experience reviewed Lancet 347 1996 148 150
    • (1996) Lancet , vol.347 , pp. 148-150
    • Brock, D.J.H.1
  • 7
    • 0026783823 scopus 로고
    • Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations
    • Burke W. Aitken M.L. Chen S.-H. Scott C.R. Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations Chest 102 1992 506 509
    • (1992) Chest , vol.102 , pp. 506-509
    • Burke, W.1    Aitken, M.L.2    Chen, S.-H.3    Scott, C.R.4
  • 8
    • 0029025333 scopus 로고
    • Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
    • Chillon M. Casals T. Mercier B. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens N Engl J Med 332 1995 1475 1480
    • (1995) N Engl J Med , vol.332 , pp. 1475-1480
    • Chillon, M.1    Casals, T.2    Mercier, B.3
  • 9
    • 0029047114 scopus 로고
    • Teaching about cystic fibrosis carrier screening by using written and video information
    • Clayton E.W. Hannig V.L. Pfotenhauer J.P. Teaching about cystic fibrosis carrier screening by using written and video information Am J Hum Genet 57 1995 171 181
    • (1995) Am J Hum Genet , vol.57 , pp. 171-181
    • Clayton, E.W.1    Hannig, V.L.2    Pfotenhauer, J.P.3
  • 10
    • 0030051640 scopus 로고    scopus 로고
    • Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening
    • Clayton E.W. Hannig V.L. Pfotenhauer J.P. Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening Am J Hum Genet 58 1996 617 627
    • (1996) Am J Hum Genet , vol.58 , pp. 617-627
    • Clayton, E.W.1    Hannig, V.L.2    Pfotenhauer, J.P.3
  • 11
    • 0029153220 scopus 로고
    • Generation and characterization of a DeltaF508 cystic fibrosis mouse model
    • Colledge W.H. Abella B.S. Southern K.W. Generation and characterization of a DeltaF508 cystic fibrosis mouse model Nature Genet 10 1995 445 452
    • (1995) Nature Genet , vol.10 , pp. 445-452
    • Colledge, W.H.1    Abella, B.S.2    Southern, K.W.3
  • 14
    • 0026811333 scopus 로고
    • Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot
    • Cuppens H. Buyse I. Baens M. Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot Mol Cell Probes 6 1992 33 39
    • (1992) Mol Cell Probes , vol.6 , pp. 33-39
    • Cuppens, H.1    Buyse, I.2    Baens, M.3
  • 15
    • 0025609513 scopus 로고
    • Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease
    • Cutting G.R. Kasch L.M. Rosenstein B.J. Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease N Engl J Med 323 1990 1685 1689
    • (1990) N Engl J Med , vol.323 , pp. 1685-1689
    • Cutting, G.R.1    Kasch, L.M.2    Rosenstein, B.J.3
  • 16
    • 0027517995 scopus 로고
    • Cystic Fibrosis Geno-Phenotype Consortium: Correlation between genotype and phenotype in patients with cystic fibrosis
    • Cystic Fibrosis Geno-Phenotype Consortium: Correlation between genotype and phenotype in patients with cystic fibrosis N Engl J Med 329 1993 1308 1313
    • (1993) N Engl J Med , vol.329 , pp. 1308-1313
  • 17
  • 18
    • 0025312731 scopus 로고
    • Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
    • Dean M. White M.B. Amos J. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients Cell 61 1990 863 870
    • (1990) Cell , vol.61 , pp. 863-870
    • Dean, M.1    White, M.B.2    Amos, J.3
  • 21
    • 0029003982 scopus 로고
    • A cystic fibrosis mutation associated with mild lung disease
    • Gan K.-H. Veeze H.J. Van den Ouweland A.M.W. A cystic fibrosis mutation associated with mild lung disease N Engl J Med 333 1995 95 99
    • (1995) N Engl J Med , vol.333 , pp. 95-99
    • Gan, K.-H.1    Veeze, H.J.2    Van den Ouweland, A.M.W.3
  • 22
    • 0027219560 scopus 로고
    • Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus
    • Hamdi I. Payne S.J. Barton D.E. Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus Clin Genet 43 1993 186 189
    • (1993) Clin Genet , vol.43 , pp. 186-189
    • Hamdi, I.1    Payne, S.J.2    Barton, D.E.3
  • 23
    • 0027955409 scopus 로고
    • Cystic fibrosis in the southern midwest United States: Molecular characterization of the common mutations
    • Hoffman R.A. Floyd M.E. Whetsell L.H. Cystic fibrosis in the southern midwest United States: Molecular characterization of the common mutations Am J Med Sei 307 1994 82 85
    • (1994) Am J Med Sei , vol.307 , pp. 82-85
    • Hoffman, R.A.1    Floyd, M.E.2    Whetsell, L.H.3
  • 24
    • 0029994529 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
    • Howard M. Frizzell R.A. Bed well D.M. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations Nature Medicine 2 1996 467 469
    • (1996) Nature Medicine , vol.2 , pp. 467-469
    • Howard, M.1    Frizzell, R.A.2    Bed well, D.M.3
  • 25
    • 0028033069 scopus 로고
    • Population variance of common cystic fibrosis mutations
    • Kazazian H.H. Jr Population variance of common cystic fibrosis mutations Hum Mutat 4 1994 167 177
    • (1994) Hum Mutat , vol.4 , pp. 167-177
    • Kazazian, H.H.1
  • 26
    • 33749296335 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem B.-S. Rommens J.M. Buchanan J.A. Identification of the cystic fibrosis gene: Genetic analysis Science 244 1989 1353 1356
    • (1989) Science , vol.244 , pp. 1353-1356
    • Kerem, B.-S.1    Rommens, J.M.2    Buchanan, J.A.3
  • 27
    • 0028177981 scopus 로고
    • DeltaF508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population
    • Lester L.A. Kraut J. Lloyd-Still Still DeltaF508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population Pediatrics 93 1994 114 118
    • (1994) Pediatrics , vol.93 , pp. 114-118
    • Lester, L.A.1    Kraut, J.2    Lloyd-Still, Still3
  • 28
    • 0027483610 scopus 로고
    • The cystic fibrosis mutation (DeltaF508) does not influence the chloride channel activity of CFTR
    • Li C. Ramjeesingh M. Reyes E. The cystic fibrosis mutation (DeltaF508) does not influence the chloride channel activity of CFTR Nature Genet 3 1993 311 316
    • (1993) Nature Genet , vol.3 , pp. 311-316
    • Li, C.1    Ramjeesingh, M.2    Reyes, E.3
  • 29
    • 0027415207 scopus 로고
    • Prevalence of cystic fibrosis mutations in the Grampian region of Scotland
    • Miedzybrodzka Z.H. Dean J.C.S. Russell G. Prevalence of cystic fibrosis mutations in the Grampian region of Scotland J Med Genet 30 1993 316 317
    • (1993) J Med Genet , vol.30 , pp. 316-317
    • Miedzybrodzka, Z.H.1    Dean, J.C.S.2    Russell, G.3
  • 30
    • 85114551751 scopus 로고
    • NIH workshop on population screening for the cystic fibrosis gene. Special report: Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene
    • NIH workshop on population screening for the cystic fibrosis gene. Special report: Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene N Engl J Med 323 1990 70
    • (1990) N Engl J Med , vol.323 , pp. 70
  • 31
    • 0026621065 scopus 로고
    • Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families
    • Ober C. Lester L.A. Mott C. Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families Am J Hum Genet 51 1992 1344 1348
    • (1992) Am J Hum Genet , vol.51 , pp. 1344-1348
    • Ober, C.1    Lester, L.A.2    Mott, C.3
  • 32
    • 85114535031 scopus 로고
    • OTA Report: Cystic Fibrosis and DNA Tests: Implications of Carrier Screening
    • OTA Report: Cystic Fibrosis and DNA Tests: Implications of Carrier Screening 1992 US Congress, Office of Technology Assessment Washington, DC
    • (1992)
  • 33
    • 0027310432 scopus 로고
    • Gene therapy for cystic fibrosis-where and when
    • Porteous D.J. Dorin J.R. Gene therapy for cystic fibrosis-where and when Hum Mol Genet 2 1993 211 212
    • (1993) Hum Mol Genet , vol.2 , pp. 211-212
    • Porteous, D.J.1    Dorin, J.R.2
  • 34
    • 0027526217 scopus 로고
    • Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs
    • Richards B. Skoletsky J. Shuber A.P. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs Hum Mol Genet 2 1993 159 163
    • (1993) Hum Mol Genet , vol.2 , pp. 159-163
    • Richards, B.1    Skoletsky, J.2    Shuber, A.P.3
  • 35
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Riordan J.R. Rommens J.M. Kerem B.-S. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA Science 245 1989 1066 1072
    • (1989) Science , vol.245 , pp. 1066-1072
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.-S.3
  • 36
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: Chromosome walking and jumping
    • Rommens J.M. Iannuzzi M.C. Kerem B.-S. 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    Iannuzzi, M.C.2    Kerem, B.-S.3
  • 37
    • 12244260380 scopus 로고
    • Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center
    • Traystman M.D. Shulte N. Colombo J.L. Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center Hum Mutat 2 1993 7 15
    • (1993) Hum Mutat , vol.2 , pp. 7-15
    • Traystman, M.D.1    Shulte, N.2    Colombo, J.L.3
  • 38
    • 85114527266 scopus 로고    scopus 로고
    • Welsh MJ, Smith AE: Cystic fibrosis. Scientific American December: 52-59, 1995
  • 39
    • 0003887935 scopus 로고
    • Introduction to Risk Calculation in Genetic Counseling
    • Young I.D. Introduction to Risk Calculation in Genetic Counseling 1991 Oxford University Press New York
    • (1991)
    • Young, I.D.1
  • 40
    • 0025742771 scopus 로고
    • Single-based mutational analysis of cancer and genetic diseases using membrane bound modified oligonucleotides
    • Zhang Y. Coyne M. Will S. Single-based mutational analysis of cancer and genetic diseases using membrane bound modified oligonucleotides Nucl Acids Res 19 1991 3929 3933
    • (1991) Nucl Acids Res , vol.19 , pp. 3929-3933
    • Zhang, Y.1    Coyne, M.2    Will, S.3
  • 41
    • 0025760318 scopus 로고
    • Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) Gene
    • Zielenski J. Rozmahel R. Bozon D. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) Gene Genomics 10 1991 214 228
    • (1991) Genomics , vol.10 , pp. 214-228
    • Zielenski, J.1    Rozmahel, R.2    Bozon, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.