메뉴 건너뛰기




Volumn 8, Issue 3, 1999, Pages 137-162

Update and review: Cystic fibrosis

Author keywords

Cystic fibrosis; Genetic counseling; Genotype phenotype

Indexed keywords

BRONCHIECTASIS; CYSTIC FIBROSIS; GENE FUNCTION; GENETIC COUNSELING; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; IDIOPATHIC DISEASE; MUTATION; PANCREATITIS; PHENOTYPE; RECESSIVE INHERITANCE; REVIEW; VAS DEFERENS;

EID: 0033006407     PISSN: 10597700     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022853822424     Document Type: Review
Times cited : (4)

References (168)
  • 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, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR (1992) 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 51:951-956.
    • (1992) Am J Hum Genet , vol.51 , pp. 951-956
    • Abeliovich, D.1    Lavon, I.P.2    Lerer, I.3    Cohen, T.4    Springer, C.5    Avital, A.6    Cutting, G.R.7
  • 2
    • 0344315520 scopus 로고    scopus 로고
    • Personal communication
    • Allitto BA, Treat K (1998) Personal communication.
    • (1998)
    • Allitto, B.A.1    Treat, K.2
  • 3
    • 0025142515 scopus 로고
    • The age-related incidence of meconium ileus equivalent in a cystic fibrosis population: The impact of high-energy intake
    • Andersen HO, Hjelt K, Waever E, Overgaard K (1990) The age-related incidence of meconium ileus equivalent in a cystic fibrosis population: The impact of high-energy intake. J Pediatr Gastroenterol Nutr 11:356-360.
    • (1990) J Pediatr Gastroenterol Nutr , vol.11 , pp. 356-360
    • Andersen, H.O.1    Hjelt, K.2    Waever, E.3    Overgaard, K.4
  • 5
    • 0032489513 scopus 로고    scopus 로고
    • Direct activation of cystic fibrosis transmembrane conductance regulator channels by 8-cyclopentyl-1,3-dipropylxanthine (CPX) and 1,3-diallyl-8-cyclohexylxanthine (DAX)
    • Arispe N, Ma J, Jacobson KA, Pollard HB (1998) Direct activation of cystic fibrosis transmembrane conductance regulator channels by 8-cyclopentyl-1,3-dipropylxanthine (CPX) and 1,3-diallyl-8-cyclohexylxanthine (DAX). J Biol Chem 273:5727-5734.
    • (1998) J Biol Chem , vol.273 , pp. 5727-5734
    • Arispe, N.1    Ma, J.2    Jacobson, K.A.3    Pollard, H.B.4
  • 8
    • 0029898347 scopus 로고    scopus 로고
    • Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up, UK Cystic Fibrosis Follow-Up Study Group
    • Axworthy D, Brock DJ, Bobrow M, Marteau TM (1996) Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up, UK Cystic Fibrosis Follow-Up Study Group. Lancet 347:1443-1446.
    • (1996) Lancet , vol.347 , pp. 1443-1446
    • Axworthy, D.1    Brock, D.J.2    Bobrow, M.3    Marteau, T.M.4
  • 10
    • 0028304784 scopus 로고
    • The impact of population based screening for carriers of cystic fibrosis
    • Bekker H, Denniss G, Modell M, Bobrow M, Marteau T (1994) The impact of population based screening for carriers of cystic fibrosis. J Med Genet 31:364-368.
    • (1994) J Med Genet , vol.31 , pp. 364-368
    • Bekker, H.1    Denniss, G.2    Modell, M.3    Bobrow, M.4    Marteau, T.5
  • 11
    • 0027252798 scopus 로고
    • Uptake of cystic fibrosis testing in primary care: Supply push or demand pull?
    • Bekker H, Modell M, Denniss G, Silver A, Mathew C, Bobrow M, Marteau T (1993) Uptake of cystic fibrosis testing in primary care: Supply push or demand pull? BMJ 306:1584-1586.
    • (1993) BMJ , vol.306 , pp. 1584-1586
    • Bekker, H.1    Modell, M.2    Denniss, G.3    Silver, A.4    Mathew, C.5    Bobrow, M.6    Marteau, T.7
  • 12
    • 0021984363 scopus 로고
    • Cystic fibrosis - A review of 26 adolescent and adult patients
    • Berkin KE, Alcock SR, Stack BH (1985) Cystic fibrosis - A review of 26 adolescent and adult patients. Eur J Respir Dis 67:103-111.
    • (1985) Eur J Respir Dis , vol.67 , pp. 103-111
    • Berkin, K.E.1    Alcock, S.R.2    Stack, B.H.3
  • 13
    • 0031934017 scopus 로고    scopus 로고
    • Gene therapy for cystic fibrosis: A psychosocial study of trial participants
    • Blair C, Kacser E, Porteous D (1998) Gene therapy for cystic fibrosis: A psychosocial study of trial participants Gene Ther 5:218-222.
    • (1998) Gene Ther , vol.5 , pp. 218-222
    • Blair, C.1    Kacser, E.2    Porteous, D.3
  • 15
    • 0026737621 scopus 로고
    • Effect of introducting prenatal diagnosis on the reporductive behaviour of families at risk for cystic fibrosis: A cohort study
    • Borgo G, Fabiano T, Mastella P, Mastella G (1992) Effect of introducting prenatal diagnosis on the reporductive behaviour of families at risk for cystic fibrosis: A cohort study. Prenatal Diag 12:821-830.
    • (1992) Prenatal Diag , vol.12 , pp. 821-830
    • Borgo, G.1    Fabiano, T.2    Mastella, P.3    Mastella, G.4
  • 16
    • 0025894079 scopus 로고
    • Consequences of prenatal diagnosis of cystic fibrosis on the reproductive attitudes of parents of affected children
    • Boue J, Muller F, Simon-Bouy B, Faure C, Boue A (1991) Consequences of prenatal diagnosis of cystic fibrosis on the reproductive attitudes of parents of affected children. Prenatal Diag 11:209-214.
    • (1991) Prenatal Diag , vol.11 , pp. 209-214
    • Boue, J.1    Muller, F.2    Simon-Bouy, B.3    Faure, C.4    Boue, A.5
  • 18
    • 0030064794 scopus 로고    scopus 로고
    • Prenatal screening for cystic fibrosis: 5 years' experience reviewed
    • Brock DJ (1996) Prenatal screening for cystic fibrosis: 5 years' experience reviewed. Lancet 347:148-150.
    • (1996) Lancet , vol.347 , pp. 148-150
    • Brock, D.J.1
  • 19
    • 0345177952 scopus 로고    scopus 로고
    • Personal observation
    • Brown, T (1998) Personal observation.
    • (1998)
    • Brown, T.1
  • 24
    • 0030957131 scopus 로고    scopus 로고
    • CFTR mutations and IVS8-5T variant in newboms with hypertyprsinaemia and normal sweat test
    • Castellani C, Bonizzato A, Mastella G (1997) CFTR mutations and IVS8-5T variant in newboms with hypertyprsinaemia and normal sweat test. J Med Genet 34:297-301.
    • (1997) J Med Genet , vol.34 , pp. 297-301
    • Castellani, C.1    Bonizzato, A.2    Mastella, G.3
  • 25
    • 0026692084 scopus 로고
    • Mild pulmonary disease in a cystic fibrosis child homozygous for R553X
    • Cheadle J, Al-Jader L, Goodchild M, Meredith AL (1992) Mild pulmonary disease in a cystic fibrosis child homozygous for R553X. J Med Genet 29:597.
    • (1992) J Med Genet , vol.29 , pp. 597
    • Cheadle, J.1    Al-Jader, L.2    Goodchild, M.3    Meredith, A.L.4
  • 26
    • 0032539515 scopus 로고    scopus 로고
    • Psychosocial and educational outcomes associated with home- and clinic-based pretest education and cystic fibrosis carrier testing among a population of at-risk relatives
    • Cheuvront B, Sorenson JR, Callanan N, Stearns SC, DeVillis BM (1998) Psychosocial and educational outcomes associated with home- and clinic-based pretest education and cystic fibrosis carrier testing among a population of at-risk relatives. Am J Med Genet 75:461-468.
    • (1998) Am J Med Genet , vol.75 , pp. 461-468
    • Cheuvront, B.1    Sorenson, J.R.2    Callanan, N.3    Stearns, S.C.4    Devillis, B.M.5
  • 29
    • 0027502580 scopus 로고
    • Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG (1993) Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genet 3:151-156.
    • (1993) Nature Genet , vol.3 , pp. 151-156
    • Chu, C.S.1    Trapnell, B.C.2    Curristin, S.3    Cutting, G.R.4    Crystal, R.G.5
  • 33
    • 0027517995 scopus 로고
    • Correlation between genotype and phenotype in patients with cystic fibrosis
    • The Cystic Fibrosis Genotype-Phenotype Consortium
    • Correlation between genotype and phenotype in patients with cystic fibrosis (1993) The Cystic Fibrosis Genotype-Phenotype Consortium. Engl J Med 329:1308-1313.
    • (1993) Engl J Med , vol.329 , pp. 1308-1313
  • 34
    • 0029843554 scopus 로고    scopus 로고
    • Bowel abnormalities in the fetus - Correlation of prenatal ultrasonographic findings with outcome
    • Corteville JE, Gray DL, Langer JC (1996) Bowel abnormalities in the fetus - Correlation of prenatal ultrasonographic findings with outcome. Am J Obstet Gynecol 175:724-729.
    • (1996) Am J Obstet Gynecol , vol.175 , pp. 724-729
    • Corteville, J.E.1    Gray, D.L.2    Langer, J.C.3
  • 35
    • 0028791190 scopus 로고
    • Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens
    • Costes B, Girodon E, Ghanem N, Flori E, Jardin A, Soufir JC, Goossens M (1995) Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Europ J Hum Genet 3:285-293.
    • (1995) Europ J Hum Genet , vol.3 , pp. 285-293
    • Costes, B.1    Girodon, E.2    Ghanem, N.3    Flori, E.4    Jardin, A.5    Soufir, J.C.6    Goossens, M.7
  • 36
    • 0022628707 scopus 로고
    • Psychologic adjustment of the family with a member who has cystic fibrosis
    • Cowen L, Mok J, Corey M, MacMillan H, Simmons R, Levison H (1986) Psychologic adjustment of the family with a member who has cystic fibrosis. Pediatrics 77:745-753.
    • (1986) Pediatrics , vol.77 , pp. 745-753
    • Cowen, L.1    Mok, J.2    Corey, M.3    MacMillan, H.4    Simmons, R.5    Levison, H.6
  • 37
    • 0029165356 scopus 로고
    • Evaluation of repeat administration of a replication deficient, recombinant adenovirus containing the normal cystic fibrosis transmembrane conductance regulator cDNa to the airways of individuals with cystic fibrosis
    • Crystal RG, Mastrangeli A, Sanders A, Cooke J, King T, Gilbert F, Henschke C, Pascal W, Herena J, Harvey BG (1995) Evaluation of repeat administration of a replication deficient, recombinant adenovirus containing the normal cystic fibrosis transmembrane conductance regulator cDNA to the airways of individuals with cystic fibrosis. Human Gene Therapy 6:667-703.
    • (1995) Human Gene Therapy , vol.6 , pp. 667-703
    • Crystal, R.G.1    Mastrangeli, A.2    Sanders, A.3    Cooke, J.4    King, T.5    Gilbert, F.6    Henschke, C.7    Pascal, W.8    Herena, J.9    Harvey, B.G.10
  • 41
    • 0025967994 scopus 로고
    • Association of less common cystic fibrosis mutations with a mild phenotype
    • Curtis A, Nelson R, Porteous M, Burn J, Bhattacharya SS (1991) Association of less common cystic fibrosis mutations with a mild phenotype. J Med Genet 28:34-37.
    • (1991) J Med Genet , vol.28 , pp. 34-37
    • Curtis, A.1    Nelson, R.2    Porteous, M.3    Burn, J.4    Bhattacharya, S.S.5
  • 42
    • 0030916094 scopus 로고    scopus 로고
    • Absence of health insurance is associated with decreased life expectancy in patients with cystic fibrosis
    • Curtis JR, Burke W, Kassner AW, Aitken ML (1997) Absence of health insurance is associated with decreased life expectancy in patients with cystic fibrosis. Am J Respir Care Med 155:1921-1924.
    • (1997) Am J Respir Care Med , vol.155 , pp. 1921-1924
    • Curtis, J.R.1    Burke, W.2    Kassner, A.W.3    Aitken, M.L.4
  • 43
    • 0025310336 scopus 로고
    • A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
    • Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH Jr. (1990) A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature 346:366-369.
    • (1990) Nature , vol.346 , pp. 366-369
    • Cutting, G.R.1    Kasch, L.M.2    Rosenstein, B.J.3    Zielenski, J.4    Tsui, L.C.5    Antonarakis, S.E.6    Kazazian H.H., Jr.7
  • 45
  • 46
    • 0003452177 scopus 로고    scopus 로고
    • Collected by the Cystic Fibrosis Genetic Analysis Consortium
    • Cystic Fibrosis Mutation Data Base. Collected by the Cystic Fibrosis Genetic Analysis Consortium (1998) http://www.genet.sickkids.on.ca/cftr/.
    • (1998) Cystic Fibrosis Mutation Data Base
  • 48
    • 0026486282 scopus 로고
    • Sonographically detected hyperechoic fetal bowel: Significance and implications for pregnancy management
    • Dicke JM, Crane JP (1992) Sonographically detected hyperechoic fetal bowel: Significance and implications for pregnancy management. Obstet Gynecol 80:778-782.
    • (1992) Obstet Gynecol , vol.80 , pp. 778-782
    • Dicke, J.M.1    Crane, J.P.2
  • 50
    • 0030071693 scopus 로고    scopus 로고
    • Cystic fibrosis 3849+ 10kb C>T mutation associated with severe pulmonary disease and male fertility
    • Dreyfus DH, Bethel R, Gelfand EW (1996) Cystic fibrosis 3849+ 10kb C>T mutation associated with severe pulmonary disease and male fertility. Am J Respir Crit Care Med 153:858-860.
    • (1996) Am J Respir Crit Care Med , vol.153 , pp. 858-860
    • Dreyfus, D.H.1    Bethel, R.2    Gelfand, E.W.3
  • 51
    • 0030032379 scopus 로고    scopus 로고
    • Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): Correlation between genotype and phenotype
    • Dumur V, Gervais R, Rigot JM, Delomel-Vinner E, Decaestecker B, Lafitte JJ, Roussel P (1996) Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): Correlation between genotype and phenotype. Hum Genet 97:7-10.
    • (1996) Hum Genet , vol.97 , pp. 7-10
    • Dumur, V.1    Gervais, R.2    Rigot, J.M.3    Delomel-Vinner, E.4    Decaestecker, B.5    Lafitte, J.J.6    Roussel, P.7
  • 52
    • 0025362052 scopus 로고
    • Abnormal distribution of cystic fibrosis delta-F508 allele in adults with chronic bronchial hypersecretion
    • Dumur V, Lafitte JJ, Gervais R, Debaecker D, Kesteloot M, Lalau G, Roussel P (1990) Abnormal distribution of cystic fibrosis delta-F508 allele in adults with chronic bronchial hypersecretion. Lancet 335:1340.
    • (1990) Lancet , vol.335 , pp. 1340
    • Dumur, V.1    Lafitte, J.J.2    Gervais, R.3    Debaecker, D.4    Kesteloot, M.5    Lalau, G.6    Roussel, P.7
  • 53
    • 0030754623 scopus 로고    scopus 로고
    • Geographic distribution and regional origin of 272 cystic fibrosis mutaitons in european populations: The Biomed CF Mutation Analysis Consortium
    • Estivill X, Bancells C, Ramos C (1997) Geographic distribution and regional origin of 272 cystic fibrosis mutaitons in european populations: The Biomed CF Mutation Analysis Consortium. Hum Mutât 10:135-154.
    • (1997) Hum Mutât , vol.10 , pp. 135-154
    • Estivill, X.1    Bancells, C.2    Ramos, C.3
  • 54
    • 0025342498 scopus 로고
    • A child with cystic fibrosis: 2. Subsequent family planning decisions, reproduction and use of prenatal diagnosis
    • Evers-Kiebooms G, Denayer L, Van den Berghe H (1990) A child with cystic fibrosis: 2. Subsequent family planning decisions, reproduction and use of prenatal diagnosis. Clin Gen 37:207-215.
    • (1990) Clin Gen , vol.37 , pp. 207-215
    • Evers-Kiebooms, G.1    Denayer, L.2    Van Den Berghe, H.3
  • 56
    • 0029091299 scopus 로고
    • Barriers to carrier testing for adult cystic fibrosis sibs: The importance of not knowing
    • Fanos JH, Johnson JP (1995) Barriers to carrier testing for adult cystic fibrosis sibs: The importance of not knowing. Am J of Med Gen 59:85-91.
    • (1995) Am J of Med Gen , vol.59 , pp. 85-91
    • Fanos, J.H.1    Johnson, J.P.2
  • 59
    • 0030275807 scopus 로고    scopus 로고
    • Pulmonary function during pregnancy in cystic fibrosis: Implications for counseling
    • Fiel SB (1996) Pulmonary function during pregnancy in cystic fibrosis: Implications for counseling. Current Opinion in PuI Med 2:462-465.
    • (1996) Current Opinion in PuI Med , vol.2 , pp. 462-465
    • Fiel, S.B.1
  • 61
    • 0345610017 scopus 로고    scopus 로고
    • Personal communication
    • Franklin, C (1998) Personal communication.
    • (1998)
    • Franklin, C.1
  • 62
    • 0030749512 scopus 로고    scopus 로고
    • Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease
    • Friedman KJ, Heim RA, Knowles MR, Silverman LM (1997) Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease. Hum Mut 10:108-115.
    • (1997) Hum Mut , vol.10 , pp. 108-115
    • Friedman, K.J.1    Heim, R.A.2    Knowles, M.R.3    Silverman, L.M.4
  • 63
    • 0028129568 scopus 로고
    • Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis: The Pulmozyme Study Group
    • Fuchs HJ, Borowitz DS, Christiansen DH, Morris EM, Nash ML, Ramsey BW, Rosenstein BJ, Smith AL, Wohl ME (1994) Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis: The Pulmozyme Study Group. N Engl J Med 331:637-642.
    • (1994) N Engl J Med , vol.331 , pp. 637-642
    • Fuchs, H.J.1    Borowitz, D.S.2    Christiansen, D.H.3    Morris, E.M.4    Nash, M.L.5    Ramsey, B.W.6    Rosenstein, B.J.7    Smith, A.L.8    Wohl, M.E.9
  • 64
    • 0342618765 scopus 로고    scopus 로고
    • Normal vas deferens in fetuses with cystic fibrosis
    • Gaillard DA, Carre-Pigeon F, Lallemand A (1997) Normal vas deferens in fetuses with cystic fibrosis. J Urol 158:1549-1552.
    • (1997) J Urol , vol.158 , pp. 1549-1552
    • Gaillard, D.A.1    Carre-Pigeon, F.2    Lallemand, A.3
  • 68
    • 0030949875 scopus 로고    scopus 로고
    • Human beta-defensin-1 is asalt-sensitive antibiotic in lung that is inactivated in cystic fibrosis
    • Goldman MJ, Anderson GM, Stolzenberg ED, Kari UP, Zasloff M, Wilson JM (1997) Human beta-defensin-1 is asalt-sensitive antibiotic in lung that is inactivated in cystic fibrosis. Cell 88:553-560.
    • (1997) Cell , vol.88 , pp. 553-560
    • Goldman, M.J.1    Anderson, G.M.2    Stolzenberg, E.D.3    Kari, U.P.4    Zasloff, M.5    Wilson, J.M.6
  • 72
    • 0025009740 scopus 로고
    • A 3-prime splice site consensus sequence mutation in the cystic fibrosis gene
    • Guillermit H, Fanen P, Ferec C (1990) A 3-prime splice site consensus sequence mutation in the cystic fibrosis gene. Hum Genet 85:450-453.
    • (1990) Hum Genet , vol.85 , pp. 450-453
    • Guillermit, H.1    Fanen, P.2    Ferec, C.3
  • 75
    • 0026322140 scopus 로고
    • Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
    • Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR (1991) Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J Clin Invest 88:1880-1885.
    • (1991) J Clin Invest , vol.88 , pp. 1880-1885
    • Hamosh, A.1    Trapnell, B.C.2    Zeitlin, P.L.3    Montrose-Rafizadeh, C.4    Rosenstein, B.J.5    Crystal, R.G.6    Cutting, G.R.7
  • 76
    • 0030724296 scopus 로고    scopus 로고
    • Insulin resistance is associated with decreased clinical status in cystic fibrosis
    • Hardin DS, LeBlanc A, Lukenbough S, Seilheimer DK (1997) Insulin resistance is associated with decreased clinical status in cystic fibrosis. J Pediatr 130:948-956.
    • (1997) J Pediatr , vol.130 , pp. 948-956
    • Hardin, D.S.1    LeBlanc, A.2    Lukenbough, S.3    Seilheimer, D.K.4
  • 77
    • 0030968786 scopus 로고    scopus 로고
    • The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP
    • Hartley NE, Scotcher D, Harris H, Williamson P, Wallace A, Craufurd D, Harris R (1997) The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP. J Med Genet 34:459-464.
    • (1997) J Med Genet , vol.34 , pp. 459-464
    • Hartley, N.E.1    Scotcher, D.2    Harris, H.3    Williamson, P.4    Wallace, A.5    Craufurd, D.6    Harris, R.7
  • 79
    • 4243369305 scopus 로고
    • Identification of a homozygous point mutationin intron 19 in an inbred CF patient with mild disease and normalsweat chloride: Creation of an alternative splice site resulting inbase-sequence insertion in CFTR coding region between exons 19 and 20. (Abstract)
    • Highsmith WE, Burch LH, Boat TF, Boucher RC, Silverman LM, Knowles MR (1991) Identification of a homozygous point mutationin intron 19 in an inbred CF patient with mild disease and normalsweat chloride: creation of an alternative splice site resulting inbase-sequence insertion in CFTR coding region between exons 19 and 20. (Abstract) Pediat Pulmonol Suppl 6:22.
    • (1991) Pediat Pulmonol Suppl , vol.6 , pp. 22
    • Highsmith, W.E.1    Burch, L.H.2    Boat, T.F.3    Boucher, R.C.4    Silverman, L.M.5    Knowles, M.R.6
  • 80
    • 0029994529 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
    • Howard M, Frizzell RA, Bedwell DM (1996) Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2:461-469.
    • (1996) Nat Med , vol.2 , pp. 461-469
    • Howard, M.1    Frizzell, R.A.2    Bedwell, D.M.3
  • 81
    • 0031874445 scopus 로고    scopus 로고
    • New developments in cystic fibrosis
    • Hudson VL, Guill MF (1998) New developments in cystic fibrosis. Pediatr Ann 27:515-520.
    • (1998) Pediatr Ann , vol.27 , pp. 515-520
    • Hudson, V.L.1    Guill, M.F.2
  • 83
    • 0031421874 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator gene mutations in severe nasal polyposis
    • Irving RM, McMahon R, Clark R, Jones NS (1997) Cystic fibrosis transmembrane conductance regulator gene mutations in severe nasal polyposis. Clin Otolaryngol 22:519-521.
    • (1997) Clin Otolaryngol , vol.22 , pp. 519-521
    • Irving, R.M.1    McMahon, R.2    Clark, R.3    Jones, N.S.4
  • 84
    • 0028870361 scopus 로고
    • Gene therapy for cystic fibrosis
    • Johnson LG (1995) Gene therapy for cystic fibrosis. Chest 107:77S-83S.
    • (1995) Chest , vol.107
    • Johnson, L.G.1
  • 85
    • 0028033069 scopus 로고
    • Population variation of common cystic fibrosis mutations: The Cystic Fibrosis Genetic Analysis Consortium
    • Kazazian H (1994) Population variation of common cystic fibrosis mutations: The Cystic Fibrosis Genetic Analysis Consortium. Hum Mutat 4:167-177.
    • (1994) Hum Mutat , vol.4 , pp. 167-177
    • Kazazian, H.1
  • 91
    • 0031664785 scopus 로고    scopus 로고
    • Therapies aimed at airway inflammation in cystic fibrosis
    • Konstan MW (1998) Therapies aimed at airway inflammation in cystic fibrosis. Clin Chest Med 19:505-513.
    • (1998) Clin Chest Med , vol.19 , pp. 505-513
    • Konstan, M.W.1
  • 92
    • 0028914667 scopus 로고
    • Effect of high-dose ibuprofen in patients with cystic fibrosis
    • Konstan MW, Byard PJ, Hoppel CL, Davis PB (1995) Effect of high-dose ibuprofen in patients with cystic fibrosis. N Engl J Med 332(13):848-854.
    • (1995) N Engl J Med , vol.332 , Issue.13 , pp. 848-854
    • Konstan, M.W.1    Byard, P.J.2    Hoppel, C.L.3    Davis, P.B.4
  • 93
    • 0031952811 scopus 로고    scopus 로고
    • Growth status in children with cystic fibrosis based on the National Cystic Fibrosis Patient Registry data: Evaluation of various criteria used to identify malnutrition
    • Lai HC, Kosorok MR, Sondel SA, Chen ST, FitzSimmons SC, Green CG, Shen G, Walker S, Farrell PM (1998) Growth status in children with cystic fibrosis based on the National Cystic Fibrosis Patient Registry data: Evaluation of various criteria used to identify malnutrition. J Pediatr 132:478-485.
    • (1998) J Pediatr , vol.132 , pp. 478-485
    • Lai, H.C.1    Kosorok, M.R.2    Sondel, S.A.3    Chen, S.T.4    FitzSimmons, S.C.5    Green, C.G.6    Shen, G.7    Walker, S.8    Farrell, P.M.9
  • 95
    • 0026057355 scopus 로고
    • Abnormal frequency of delta F508 mutation in neonatal transitory hypertrypsinaemia
    • Laroche D, Travert G (1991) Abnormal frequency of delta F508 mutation in neonatal transitory hypertrypsinaemia. Lancet 337:55.
    • (1991) Lancet , vol.337 , pp. 55
    • Laroche, D.1    Travert, G.2
  • 97
    • 0030781298 scopus 로고    scopus 로고
    • Carrier screening for cystic fibrosis: Test acceptance and one year follow-up
    • Levenkron JC, Loader S, Rowley PT (1997) Carrier screening for cystic fibrosis: Test acceptance and one year follow-up. Am J Med Genet 73:378-386.
    • (1997) Am J Med Genet , vol.73 , pp. 378-386
    • Levenkron, J.C.1    Loader, S.2    Rowley, P.T.3
  • 98
    • 0031660253 scopus 로고    scopus 로고
    • Burkholderia cepacia: Management issues and new insights
    • LiPuma JJ (1998) Burkholderia cepacia: Management issues and new insights. Clin Chest Med 19:473-486.
    • (1998) Clin Chest Med , vol.19 , pp. 473-486
    • LiPuma, J.J.1
  • 101
    • 0025834174 scopus 로고
    • Localization of the cystic fibrosis transmembrane conductance regulator in pancreas
    • Marino CR, Matovcik LM, Gorelick FS, Cohn JA (1991) Localization of the cystic fibrosis transmembrane conductance regulator in pancreas. J Clin Invest 88:712-716.
    • (1991) J Clin Invest , vol.88 , pp. 712-716
    • Marino, C.R.1    Matovcik, L.M.2    Gorelick, F.S.3    Cohn, J.A.4
  • 102
    • 0031707429 scopus 로고    scopus 로고
    • Basic therapies in cystic fibrosis: Does standard therapy work?
    • Marshall BC, Samuelson WM (1998) Basic therapies in cystic fibrosis: Does standard therapy work? Clin Chest Med 19:487-504.
    • (1998) Clin Chest Med , vol.19 , pp. 487-504
    • Marshall, B.C.1    Samuelson, W.M.2
  • 103
    • 0030883595 scopus 로고    scopus 로고
    • Prenatal screening for cystic fibrosis carriers: Does the method of testing affect the longer-term understanding and reproductive behaviour of women?
    • Mennie ME, Axworthy D, Liston WA, Brock DJ (1997) Prenatal screening for cystic fibrosis carriers: Does the method of testing affect the longer-term understanding and reproductive behaviour of women? Prenat Diagn 17:853-860.
    • (1997) Prenat Diagn , vol.17 , pp. 853-860
    • Mennie, M.E.1    Axworthy, D.2    Liston, W.A.3    Brock, D.J.4
  • 105
    • 0027374450 scopus 로고
    • Prenatal cystic fibrosis carrier screening: Factors in a woman's decision to decline testing
    • Mennie ME, Gilfillan A, Compton ME, Liston WA, Brock DJ (1993b) Prenatal cystic fibrosis carrier screening: Factors in a woman's decision to decline testing. Prenat Diagn 13:807-814.
    • (1993) Prenat Diagn , vol.13 , pp. 807-814
    • Mennie, M.E.1    Gilfillan, A.2    Compton, M.E.3    Liston, W.A.4    Brock, D.J.5
  • 106
    • 0027366996 scopus 로고
    • Compound heterozygosity for the ΔF508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens
    • Meschede D, Eigel A, Horst J, Nieschlang E (1993) Compound heterozygosity for the ΔF508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens. Am J Hum Genet 53:292-283.
    • (1993) Am J Hum Genet , vol.53 , pp. 292-1283
    • Meschede, D.1    Eigel, A.2    Horst, J.3    Nieschlang, E.4
  • 107
    • 0028935321 scopus 로고
    • Stepwise or couple antenatal carrier screening for cystic fibrosis? Women's preferences and willingness to pay
    • Miedzybrodzka Z, Semper J, Shackley P, Abdalla M, Donaldson C (1995a) Stepwise or couple antenatal carrier screening for cystic fibrosis? Women's preferences and willingness to pay. J Med Genet 32:282-283.
    • (1995) J Med Genet , vol.32 , pp. 282-283
    • Miedzybrodzka, Z.1    Semper, J.2    Shackley, P.3    Abdalla, M.4    Donaldson, C.5
  • 109
    • 0031950258 scopus 로고    scopus 로고
    • Risk of death in cystic fibrosis patients with severely compromised lung function
    • Millace, Warwick WJ (1998) Risk of death in cystic fibrosis patients with severely compromised lung function. Chest 113:1230-1234.
    • (1998) Chest , vol.113 , pp. 1230-1234
    • Millace, W.W.J.1
  • 111
    • 0017186136 scopus 로고
    • Cystic fibrosis in adolescents and adults
    • Mitchell-Heggs P, Mearns M, Batten JC (1976) Cystic fibrosis in adolescents and adults. Q J Med 45: 479-504.
    • (1976) Q J Med , vol.45 , pp. 479-504
    • Mitchell-Heggs, P.1    Mearns, M.2    Batten, J.C.3
  • 115
    • 0004197558 scopus 로고    scopus 로고
    • Newborn Screening Fact Sheets, American Academy of Pediatrics
    • Newborn Screening Fact Sheets, American Academy of Pediatrics (1996) Pediatrics 98:467-472.
    • (1996) Pediatrics , vol.98 , pp. 467-472
  • 116
    • 0030663247 scopus 로고    scopus 로고
    • Airway deposition and clearance and sytemic pharmokinetics of amiloride following aerolization with a ultronic nebulizer to normal airways
    • Noone PG, Regnis JA, Liu X, Brouwer KL, Robinson M, Edwards L, Knowles MR (1997) Airway deposition and clearance and sytemic pharmokinetics of amiloride following aerolization with a ultronic nebulizer to normal airways. Chest 112:1283-1290.
    • (1997) Chest , vol.112 , pp. 1283-1290
    • Noone, P.G.1    Regnis, J.A.2    Liu, X.3    Brouwer, K.L.4    Robinson, M.5    Edwards, L.6    Knowles, M.R.7
  • 117
    • 0028074301 scopus 로고
    • Somatic gene therapy for cystic fibrosis
    • O'Neal WK, Beaudet AL (1994) Somatic gene therapy for cystic fibrosis. Hum Mol Genet 3 Spec No: 1497-1502.
    • (1994) Hum Mol Genet , vol.3 SPEC NO , pp. 1497-1502
    • O'Neal, W.K.1    Beaudet, A.L.2
  • 118
    • 0025966771 scopus 로고
    • A mutation in the second nucleotide binding fold of the cystic fibrosis gene
    • Osborne L, Knight R, Santis G, Hudson M (1991) A mutation in the second nucleotide binding fold of the cystic fibrosis gene. Am J Hum Genet 48:608-612.
    • (1991) Am J Hum Genet , vol.48 , pp. 608-612
    • Osborne, L.1    Knight, R.2    Santis, G.3    Hudson, M.4
  • 120
    • 0032496170 scopus 로고    scopus 로고
    • Hyperactivity of human DNase I variants: Dependence on the number of positively charged residues and concentration, length, and environment of DNA
    • Pan CQ, Lazarus RA (1998) Hyperactivity of human DNase I variants: Dependence on the number of positively charged residues and concentration, length, and environment of DNA Biol Chem 273:11701-11708.
    • (1998) Biol Chem , vol.273 , pp. 11701-11708
    • Pan, C.Q.1    Lazarus, R.A.2
  • 121
    • 0030730447 scopus 로고    scopus 로고
    • Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection
    • Pauer HU, Hinney B, Michelmann HW, Krasemann EW, Zoll B, Engel W (1997) Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection. Hum Reprod 12:1909-1912.
    • (1997) Hum Reprod , vol.12 , pp. 1909-1912
    • Pauer, H.U.1    Hinney, B.2    Michelmann, H.W.3    Krasemann, E.W.4    Zoll, B.5    Engel, W.6
  • 122
    • 0031777961 scopus 로고    scopus 로고
    • Limited entry of adenovirus vectors into well-differentiated airway epithelium is responsible for inefficient gene transfer
    • Pickles RJ, McCarty D, Matsui H, Hart PJ, Randell SH, Boucher RC (1998) Limited entry of adenovirus vectors into well-differentiated airway epithelium is responsible for inefficient gene transfer. J of Virology 72:6014-6023.
    • (1998) J of Virology , vol.72 , pp. 6014-6023
    • Pickles, R.J.1    McCarty, D.2    Matsui, H.3    Hart, P.J.4    Randell, S.H.5    Boucher, R.C.6
  • 123
    • 0029961331 scopus 로고    scopus 로고
    • How mutant CFTR may contribute to Pseudomonas aeruginosa infection in cystic fibrosis
    • Pier GB, Grout M, Zaidi TS, Goldberg JB (1996b) How mutant CFTR may contribute to Pseudomonas aeruginosa infection in cystic fibrosis. Am J Respir Crit Care Med 154:S175-S182.
    • (1996) Am J Respir Crit Care Med , vol.154
    • Pier, G.B.1    Grout, M.2    Zaidi, T.S.3    Goldberg, J.B.4
  • 132
    • 0031900652 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis: A consensus statement. Cystic Fibrosis Foundation Consensus Panel
    • Rosenstein BJ, Cutting GR (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
  • 133
    • 0031292156 scopus 로고    scopus 로고
    • Cystic fibrosis carrier population screening: A review
    • Rowley P, Loader S, Levenkron JC (1997) Cystic fibrosis carrier population screening: A review. Genet Testing 1:53-59.
    • (1997) Genet Testing , vol.1 , pp. 53-59
    • Rowley, P.1    Loader, S.2    Levenkron, J.C.3
  • 135
    • 0031889082 scopus 로고    scopus 로고
    • A pilot clinical trial of oral sodium 4-pheylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients:partial restoration of nasal epithelial CFTR function
    • Rubenstein RC, Zetlin PL (1998) A pilot clinical trial of oral sodium 4-pheylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients:partial restoration of nasal epithelial CFTR function. Am J Respir Crit Care Med 157:484-490.
    • (1998) Am J Respir Crit Care Med , vol.157 , pp. 484-490
    • Rubenstein, R.C.1    Zetlin, P.L.2
  • 140
    • 0026503640 scopus 로고
    • Association of a nonsense mutation (WI282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease
    • Shoshani T, Augarten A, Gazit E, Bashan N, Yahav Y, Rivlin Y, Tal A, Seret H, Yaar L, Kerem E, Kerem B (1992) Association of a nonsense mutation (WI282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet 50:222-228.
    • (1992) Am J Hum Genet , vol.50 , pp. 222-228
    • Shoshani, T.1    Augarten, A.2    Gazit, E.3    Bashan, N.4    Yahav, Y.5    Rivlin, Y.6    Tal, A.7    Seret, H.8    Yaar, L.9    Kerem, E.10    Kerem, B.11
  • 143
    • 0030028107 scopus 로고    scopus 로고
    • Prognostic implications of fetal echogenic bowel
    • Slotnick RN, Abuhamad AZ (1996) Prognostic implications of fetal echogenic bowel. Lancet 347:85-87.
    • (1996) Lancet , vol.347 , pp. 85-87
    • Slotnick, R.N.1    Abuhamad, A.Z.2
  • 144
    • 0027468714 scopus 로고
    • Pseudomonas cepacia in lung transplant recipients with cystic fibrosis
    • Snell GI, de Hoyos A, Krajden M, Winton T, Maurer JR (1993) Pseudomonas cepacia in lung transplant recipients with cystic fibrosis. Chest 103:466-471.
    • (1993) Chest , vol.103 , pp. 466-471
    • Snell, G.I.1    De Hoyos, A.2    Krajden, M.3    Winton, T.4    Maurer, J.R.5
  • 148
    • 0030970422 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator inverts protein kinase A-mediated regulation of epithelial sodium channel single channel kinetics
    • Stutts MJ, Rossier BC, Boucher RC (1997) Cystic fibrosis transmembrane conductance regulator inverts protein kinase A-mediated regulation of epithelial sodium channel single channel kinetics. J Biol Chem 272:14037-14040.
    • (1997) J Biol Chem , vol.272 , pp. 14037-14040
    • Stutts, M.J.1    Rossier, B.C.2    Boucher, R.C.3
  • 150
    • 0031023970 scopus 로고    scopus 로고
    • Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells
    • Teng H, Jorissen M, Van Poppel H, Legius E, Cassiman JJ, Cuppens H (1997) Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells. Hum Molec Genet 6:85-90.
    • (1997) Hum Molec Genet , vol.6 , pp. 85-90
    • Teng, H.1    Jorissen, M.2    Van Poppel, H.3    Legius, E.4    Cassiman, J.J.5    Cuppens, H.6
  • 151
    • 0031657067 scopus 로고    scopus 로고
    • Factors influencing adeno-associated virus-mediated gene transfer to human cystic fibrosis airway epithelial cells: Comparison with adenovirus vectors
    • Teramoto S, Bartlett JS, McCarty D, Xiao X, Samulski RJ, Boucher RC (1998) Factors influencing adeno-associated virus-mediated gene transfer to human cystic fibrosis airway epithelial cells: Comparison with adenovirus vectors. J Virol 72:8904-8912.
    • (1998) J Virol , vol.72 , pp. 8904-8912
    • Teramoto, S.1    Bartlett, J.S.2    McCarty, D.3    Xiao, X.4    Samulski, R.J.5    Boucher, R.C.6
  • 152
    • 0026043883 scopus 로고
    • Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis
    • Trapnell BC, Chu CS, Paakko PK, Banks TC, Yoshimura K, Ferrans VJ, Chernick MS, Crystal RG (1991) Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis. Proc Nat Acad Sci 88:6565-6569.
    • (1991) Proc Nat Acad Sci , vol.88 , pp. 6565-6569
    • Trapnell, B.C.1    Chu, C.S.2    Paakko, P.K.3    Banks, T.C.4    Yoshimura, K.5    Ferrans, V.J.6    Chernick, M.S.7    Crystal, R.G.8
  • 153
    • 1842333889 scopus 로고    scopus 로고
    • Genotype and phenotype in cystic fibrosis
    • Tsui L, Dune P (1997) Genotype and phenotype in cystic fibrosis. Hosp Prac June 115-142.
    • (1997) Hosp Prac June , pp. 115-142
    • Tsui, L.1    Dune, P.2
  • 154
    • 0003820162 scopus 로고    scopus 로고
    • United Network for Organ Sharing (1997) Annual Report. www.UNOS.org.
    • (1997) Annual Report
  • 157
    • 0026710594 scopus 로고
    • Attitudes towards prenatal diagnosis and carrier screening for cystic fibrosis among the parents of patients in a paediatric cystic fibrosis clinic
    • Watson EK, Marchant J. Bush A, Williamson B (1992) Attitudes towards prenatal diagnosis and carrier screening for cystic fibrosis among the parents of patients in a paediatric cystic fibrosis clinic. J Med Genet 29:490-491.
    • (1992) J Med Genet , vol.29 , pp. 490-491
    • Watson, E.K.1    Marchant, J.2    Bush, A.3    Williamson, B.4
  • 158
    • 0025864953 scopus 로고
    • Attitudes to carrier screening for cystic fibrosis: A survey of health care professionals, relatives of sufferers and other members of the public
    • Watson EK, Williamson R, Chappie J (1991) Attitudes to carrier screening for cystic fibrosis: A survey of health care professionals, relatives of sufferers and other members of the public. Br J Gen Pract 41:237-240.
    • (1991) Br J Gen Pract , vol.41 , pp. 237-240
    • Watson, E.K.1    Williamson, R.2    Chappie, J.3
  • 159
    • 0345610001 scopus 로고    scopus 로고
    • Personal communication
    • Waurin J (1998) Personal communication.
    • (1998)
    • Waurin, J.1
  • 160
    • 2642712510 scopus 로고    scopus 로고
    • Placebo controlled, double blind randomized study of aerosolized tobramycin for early treatment of Pseudomonas colonization in cystic fibrosis
    • Weisemann HG, Steinkamp G, Ratgen F, Bauernfeind A, Przyklenk B, Doling G, von der Hardt H (1998) Placebo controlled, double blind randomized study of aerosolized tobramycin for early treatment of Pseudomonas colonization in cystic fibrosis. Pediatr Pulmonol 25:88-92.
    • (1998) Pediatr Pulmonol , vol.25 , pp. 88-92
    • Weisemann, H.G.1    Steinkamp, G.2    Ratgen, F.3    Bauernfeind, A.4    Przyklenk, B.5    Doling, G.6    Von Der Hardt, H.7
  • 163
    • 0031717590 scopus 로고    scopus 로고
    • Therapies directed at the basic defect in cystic fibrosis
    • Zeitlin PL (1998) Therapies directed at the basic defect in cystic fibrosis. Clin Chest Med 19:515-525.
    • (1998) Clin Chest Med , vol.19 , pp. 515-525
    • Zeitlin, P.L.1
  • 165
    • 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, Markiewicz D, Dune P, Rommens JM, Tsui LC (1991) Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:229-235.
    • (1991) Genomics , vol.10 , pp. 229-235
    • Zielenski, J.1    Bozon, D.2    Kerem, B.3    Markiewicz, D.4    Dune, P.5    Rommens, J.M.6    Tsui, L.C.7
  • 168
    • 0029616734 scopus 로고
    • Cystic fibrosis: Genotypic and phenotypic variations
    • Zielenski J, Tsui LC (1995) Cystic fibrosis: genotypic and phenotypic variations. Ann Rev Genet 29:777-807.
    • (1995) Ann Rev Genet , vol.29 , pp. 777-807
    • Zielenski, J.1    Tsui, L.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.