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Volumn 159, Issue 1-2, 2000, Pages 99-102

Buccal cell DNA analysis in premature and term neonates: Screening for mutations of the complete coding region for the cystic fibrosis transmembrane conductance regulator

Author keywords

Cystic fibrosis; Mutation screening; Newborns

Indexed keywords

DNA; ELECTROLYTE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0034001844     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00013814     Document Type: Article
Times cited : (17)

References (10)
  • 1
    • 0029077443 scopus 로고
    • Long term prognosis of patients with cystic fibrosis in relation to early detection by neonatal screening and treatment in a cystic fibrosis centre
    • 1. Dankert-Roelse JE, te Meerman GJ (1995) Long term prognosis of patients with cystic fibrosis in relation to early detection by neonatal screening and treatment in a cystic fibrosis centre [see comments]. Thorax 50:712-718
    • (1995) Thorax , vol.50 , pp. 712-718
    • Dankert-Roelse, J.E.1    Te Meerman, G.J.2
  • 3
    • 0030803131 scopus 로고    scopus 로고
    • Nutritional benefits of neonatal screening for cystic fibrosis
    • Wisconsin Cystic Fibrosis Neonatal Screening Study Group [see comments]
    • 3. Farrell PM, Kosorok MR, Laxova A, Shen G, Koscik RE, Bruns WT (1997) Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group [see comments]. N Engl J Med 337:963-969
    • (1997) N Engl J Med , vol.337 , pp. 963-969
    • Farrell, P.M.1    Kosorok, M.R.2    Laxova, A.3    Shen, G.4    Koscik, R.E.5    Bruns, W.T.6
  • 4
    • 0028209965 scopus 로고
    • Mass screening for cystic fibrosis heterozygotes: Two assay systems compared
    • 4. Gilfillan A, Axton R, Brock DJ (1994) Mass screening for cystic fibrosis heterozygotes: two assay systems compared. Clin Chem 40:197-199
    • (1994) Clin Chem , vol.40 , pp. 197-199
    • Gilfillan, A.1    Axton, R.2    Brock, D.J.3
  • 5
    • 0023913194 scopus 로고
    • Simple non-invasive method to obtain DNA for gene analysis
    • 5. Lench N, Stanier P, Williamson R (1988) Simple non-invasive method to obtain DNA for gene analysis. Lancet 1:1356-1358
    • (1988) Lancet , vol.1 , pp. 1356-1358
    • Lench, N.1    Stanier, P.2    Williamson, R.3
  • 6
    • 0032772838 scopus 로고    scopus 로고
    • Two buffer PAGE system based SSCP analysis: A general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease
    • 6. Liechli-Gallati S, Schneider V, Neeser D, Kraemer R (1999) Two buffer PAGE system based SSCP analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. Eur J Hum Genet 7:590-598
    • (1999) Eur J Hum Genet , vol.7 , pp. 590-598
    • Liechli-Gallati, S.1    Schneider, V.2    Neeser, D.3    Kraemer, R.4
  • 7
    • 0031949094 scopus 로고    scopus 로고
    • Buccal cell DNA mutation analysis for diagnosis of cystic fibrosis in newborns and infants inaccessible to sweat chloride measurement
    • 7. Parad RB (1998) Buccal cell DNA mutation analysis for diagnosis of cystic fibrosis in newborns and infants inaccessible to sweat chloride measurement. Pediatrics 101:851-855
    • (1998) Pediatrics , vol.101 , pp. 851-855
    • Parad, R.B.1
  • 8
    • 0028063910 scopus 로고
    • An efficient polymerase chain reaction approach for the quantitation of multiple RNAs in human tissue samples
    • 8. Puntschart A, Jostarndt K, Hoppeler H, Billeter R (1994) An efficient polymerase chain reaction approach for the quantitation of multiple RNAs in human tissue samples. PCR Methods Appl 3:232-238
    • (1994) PCR Methods Appl , vol.3 , pp. 232-238
    • Puntschart, A.1    Jostarndt, K.2    Hoppeler, H.3    Billeter, R.4
  • 9
    • 0027526217 scopus 로고
    • Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs
    • 9. Richards B, Skoletsky J, Shuber AP, Balfour R, Stern RC, Dorkin HL, et al. (1993) Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet 2:159-163
    • (1993) Hum Mol Genet , vol.2 , pp. 159-163
    • Richards, B.1    Skoletsky, J.2    Shuber, A.P.3    Balfour, R.4    Stern, R.C.5    Dorkin, H.L.6
  • 10
    • 0021237678 scopus 로고
    • Early diagnosis of cystic fibrosis by means of sweat microosmometry
    • 10. Schoni MH, Kraemer R, Bahler P, Rossi E (1984) Early diagnosis of cystic fibrosis by means of sweat microosmometry. J Pediatr 104:691-694
    • (1984) J Pediatr , vol.104 , pp. 691-694
    • Schoni, M.H.1    Kraemer, R.2    Bahler, P.3    Rossi, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.