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Volumn 35, Issue 3, 2008, Pages 100-106

Diagnosis of cystic fibrosis

Author keywords

CFTR; Cystic fibrosis; Genetic disease; Pancreatic insufficiency; Sinusitis; Sweat testing

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 59449100259     PISSN: 10800549     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12016-008-8078-x     Document Type: Review
Times cited : (28)

References (31)
  • 2
    • 62349106647 scopus 로고    scopus 로고
    • National Newborn Screening and Genetics Resource Center. National Newborn Screening and Genetics Resource Center San Antonio, TX
    • National Newborn Screening and Genetics Resource Center (2003) National newborn screening report 2000. National Newborn Screening and Genetics Resource Center, San Antonio, TX
    • (2003)
  • 3
    • 0000471085 scopus 로고
    • Cystic fibrosis of the pandrease and its relation to celiac disease: A clinical and pathological study
    • D Andersen 1938 Cystic fibrosis of the pandrease and its relation to celiac disease: a clinical and pathological study Am J Dis Child 56 344 399
    • (1938) Am J Dis Child , vol.56 , pp. 344-399
    • Andersen, D.1
  • 5
    • 9244225677 scopus 로고
    • A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis
    • LE Gibson RE Cooke 1959 A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis Pediatrics 23 545 549
    • (1959) Pediatrics , vol.23 , pp. 545-549
    • Gibson, L.E.1    Cooke, R.E.2
  • 6
    • 0031900652 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis: A consensus statement. Cystic Fibrosis Foundation Consensus Panel
    • BJ Rosenstein GR Cutting 1998 The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel J Pediatr 132 589 595
    • (1998) J Pediatr , vol.132 , pp. 589-595
    • Rosenstein, B.J.1    Cutting, G.R.2
  • 7
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • JR Riordan JM Rommens B Kerem N Alon R Rozmahel Z Grzelczak 1989 Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA Science 245 1066 1073
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.3    Alon, N.4    Rozmahel, R.5    Grzelczak, Z.6
  • 8
    • 0141615605 scopus 로고    scopus 로고
    • The phenotypic consequences of CFTR mutations
    • RK Rowntree A Harris 2003 The phenotypic consequences of CFTR mutations Ann Hum Genet 67 471 485
    • (2003) Ann Hum Genet , vol.67 , pp. 471-485
    • Rowntree, R.K.1    Harris, A.2
  • 9
    • 0035693855 scopus 로고    scopus 로고
    • Cystic fibrosis
    • PB Davis 2001 Cystic fibrosis Pediatr Rev 22 257 264
    • (2001) Pediatr Rev , vol.22 , pp. 257-264
    • Davis, P.B.1
  • 10
    • 62349110425 scopus 로고    scopus 로고
    • Cystic Fibrosis Foundation. Cystic Fibrosis Foundation Bethesda, MD
    • Cystic Fibrosis Foundation (2006) Cystic fibrosis foundation patient registry. Cystic Fibrosis Foundation, Bethesda, MD
    • (2006)
  • 11
    • 0032433707 scopus 로고    scopus 로고
    • Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease
    • H Matsui BR Grubb R Tarran SH Randell JT Gatzy CW Davis 1998 Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease Cell 95 1005 1015
    • (1998) Cell , vol.95 , pp. 1005-1015
    • Matsui, H.1    Grubb, B.R.2    Tarran, R.3    Randell, S.H.4    Gatzy, J.T.5    Davis, C.W.6
  • 12
    • 0032910501 scopus 로고    scopus 로고
    • The genesis of cystic fibrosis lung disease
    • JJ Wine 1999 The genesis of cystic fibrosis lung disease J Clin Invest 103 309 312
    • (1999) J Clin Invest , vol.103 , pp. 309-312
    • Wine, J.J.1
  • 13
    • 30944452609 scopus 로고    scopus 로고
    • Restoring airway surface liquid in cystic fibrosis
    • F Ratjen 2006 Restoring airway surface liquid in cystic fibrosis N Engl J Med 354 291 293
    • (2006) N Engl J Med , vol.354 , pp. 291-293
    • Ratjen, F.1
  • 15
    • 62349127541 scopus 로고    scopus 로고
    • NCCLS. National Committee for Clinical Laboratory Standards Wayne, PA Document C34-A2. Clinical Laboratory Standards Institute formerly National Committee for Clinical Laboratory Standards
    • NCCLS (2000) Sweat testing: sample collection and quantitative analysis: approved guideline. National Committee for Clinical Laboratory Standards, Wayne, PA Document C34-A2. Clinical Laboratory Standards Institute formerly National Committee for Clinical Laboratory Standards
    • (2000)
  • 16
    • 4944235029 scopus 로고    scopus 로고
    • Newborn screening for cystic fibrosis: Evaluation of benefits and risks and recommendations for state newborn screening programs
    • SD Grosse CA Boyle JR Botkin AM Comeau M Kharrazi M Rosenfeld 2004 Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs MMWR Recomm Rep 53 1 36
    • (2004) MMWR Recomm Rep , vol.53 , pp. 1-36
    • Grosse, S.D.1    Boyle, C.A.2    Botkin, J.R.3    Comeau, A.M.4    Kharrazi, M.5    Rosenfeld, M.6
  • 19
    • 0033557197 scopus 로고    scopus 로고
    • Novel pharmacologic therapies for cystic fibrosis
    • PL Zeitlin 1999 Novel pharmacologic therapies for cystic fibrosis J Clin Invest 103 447 452
    • (1999) J Clin Invest , vol.103 , pp. 447-452
    • Zeitlin, P.L.1
  • 20
    • 36348979793 scopus 로고    scopus 로고
    • Sodium channels and cystic fibrosis
    • SH Donaldson RC Boucher 2007 Sodium channels and cystic fibrosis Chest 132 1631 1636
    • (2007) Chest , vol.132 , pp. 1631-1636
    • Donaldson, S.H.1    Boucher, R.C.2
  • 22
    • 0035143990 scopus 로고    scopus 로고
    • Comprehensive mutation screening in a cystic fibrosis center
    • JJ Wine E Kuo G Hurlock RB Moss 2001 Comprehensive mutation screening in a cystic fibrosis center Pediatrics 107 280 286
    • (2001) Pediatrics , vol.107 , pp. 280-286
    • Wine, J.J.1    Kuo, E.2    Hurlock, G.3    Moss, R.B.4
  • 23
    • 0032518518 scopus 로고    scopus 로고
    • Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. the polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
    • H Cuppens W Lin M Jaspers B Costes H Teng A Vankeerberghen 1998 Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation J Clin Invest 101 487 496
    • (1998) J Clin Invest , vol.101 , pp. 487-496
    • Cuppens, H.1    Lin, W.2    Jaspers, M.3    Costes, B.4    Teng, H.5    Vankeerberghen, A.6
  • 24
  • 25
    • 33749053216 scopus 로고    scopus 로고
    • Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype
    • BP O'Sullivan RG Zwerdling HL Dorkin AM Comeau R Parad 2006 Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype Pediatrics 118 1260 1265
    • (2006) Pediatrics , vol.118 , pp. 1260-1265
    • O'Sullivan, B.P.1    Zwerdling, R.G.2    Dorkin, H.L.3    Comeau, A.M.4    Parad, R.5
  • 26
    • 33947107377 scopus 로고    scopus 로고
    • Pulmonary manifestations in deltaF508/R117H
    • CL Ren 2007 Pulmonary manifestations in deltaF508/R117H Pediatrics 119 647 648
    • (2007) Pediatrics , vol.119 , pp. 647-648
    • Ren, C.L.1
  • 27
    • 0028086056 scopus 로고
    • A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
    • WE Highsmith LH Burch Z Zhou JC Olsen TE Boat A Spock 1994 A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations N Engl J Med 331 974 980
    • (1994) N Engl J Med , vol.331 , pp. 974-980
    • Highsmith, W.E.1    Burch, L.H.2    Zhou, Z.3    Olsen, J.C.4    Boat, T.E.5    Spock, A.6
  • 29
    • 0028991826 scopus 로고
    • In vivo nasal potential difference: Techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis
    • MR Knowles AM Paradiso RC Boucher 1995 In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis Hum Gene Ther 6 445 455
    • (1995) Hum Gene Ther , vol.6 , pp. 445-455
    • Knowles, M.R.1    Paradiso, A.M.2    Boucher, R.C.3
  • 30
    • 0023641255 scopus 로고
    • Clinical application of transepithelial potential difference measurements in cystic fibrosis
    • RA Sauder SE Chesrown GM Loughlin 1987 Clinical application of transepithelial potential difference measurements in cystic fibrosis J Pediatr 111 353 358
    • (1987) J Pediatr , vol.111 , pp. 353-358
    • Sauder, R.A.1    Chesrown, S.E.2    Loughlin, G.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.