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Volumn 27, Issue 6, 2001, Pages 876-886

Regional differences in the incidence of cystic fibrosis in Italy

Author keywords

CFTR (cystic fibrosis transmembrane regulator); Cystic fibrosis; Incidence; Italian registry

Indexed keywords


EID: 0008685274     PISSN: 17208424     EISSN: 18247288     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (39)
  • 1
    • 0000471085 scopus 로고
    • Cystic fibrosis of the pancreas and its relation to celiac disease
    • Andersen DH. Cystic fibrosis of the pancreas and its relation to celiac disease. Am J Child 1938;56:344-99.
    • (1938) Am J Child , vol.56 , pp. 344-399
    • Andersen, D.H.1
  • 2
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
    • Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak KZ, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-73.
    • (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, K.Z.6
  • 4
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993;73:1251-4.
    • (1993) Cell , vol.73 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2
  • 5
    • 0028940005 scopus 로고
    • Functions of the cystic fibrosis trasmembrane conductance regulator protein
    • Frizzell RA. Functions of the cystic fibrosis trasmembrane conductance regulator protein. Am J Respir Crit Care Med 1995;151(3 Pt 2):S54-8.
    • (1995) Am J Respir Crit Care Med , vol.151 , Issue.3 PART 2
    • Frizzell, R.A.1
  • 7
    • 0021060899 scopus 로고
    • Diagnostic delay in cystic fibrosis: Lesson from newborn screening
    • Wilcken B, Towns SJ, Mellis CM. Diagnostic delay in cystic fibrosis: lesson from newborn screening. Arch Dis Child 1983;58:863-6.
    • (1983) Arch Dis Child , vol.58 , pp. 863-866
    • Wilcken, B.1    Towns, S.J.2    Mellis, C.M.3
  • 9
  • 10
    • 0027235965 scopus 로고
    • Delayed diagnosis of cystic fibrosis in children from ethnic minorities
    • Spencer DA, Venkataraman M, Weller PH. Delayed diagnosis of cystic fibrosis in children from ethnic minorities. Lancet 1993;342:238.
    • (1993) Lancet , vol.342 , pp. 238
    • Spencer, D.A.1    Venkataraman, M.2    Weller, P.H.3
  • 13
    • 0031900652 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis: A consensus statement. Cystic Fibrosis Foundation Consensus Panel
    • Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998;132:589-95.
    • (1998) J Pediatr , vol.132 , pp. 589-595
    • Rosenstein, B.J.1    Cutting, G.R.2
  • 14
    • 0031900650 scopus 로고    scopus 로고
    • Making the diagnosis of cystic fibrosis
    • Wilmott RW. Making the diagnosis of cystic fibrosis. J Pediatr 1998;132:563-5.
    • (1998) J Pediatr , vol.132 , pp. 563-565
    • Wilmott, R.W.1
  • 15
    • 9244225677 scopus 로고
    • A test for concentration of electrolytes in sweat in cystic fibrosis of pancreas utilizing pilocarpine by ion-tophoresis
    • Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of pancreas utilizing pilocarpine by ion-tophoresis. Pediatrics 1959;23:545-9.
    • (1959) Pediatrics , vol.23 , pp. 545-549
    • Gibson, L.E.1    Cooke, R.E.2
  • 16
    • 0030956949 scopus 로고    scopus 로고
    • Nasal potential difference in cystic fibrosis patients presenting borderline sweat test
    • Delmarco A, Pradal U, Cabrini G, Bonizzato A, Mastella G. Nasal potential difference in cystic fibrosis patients presenting borderline sweat test. Eur Resp J 1997;10:1145-9.
    • (1997) Eur Resp J , vol.10 , pp. 1145-1149
    • Delmarco, A.1    Pradal, U.2    Cabrini, G.3    Bonizzato, A.4    Mastella, G.5
  • 17
    • 0031020188 scopus 로고    scopus 로고
    • Diagnosing Cystic Fibrosis: Blood, sweat and tears
    • Wallis C. Diagnosing Cystic Fibrosis: blood, sweat and tears. Arch Dis Child 1997;76:85-6.
    • (1997) Arch Dis Child , vol.76 , pp. 85-86
    • Wallis, C.1
  • 18
    • 0030665216 scopus 로고    scopus 로고
    • Failure to thrive: The earliest feature of cystic fibrosis in infants diagnosed by neonatal screening
    • Giglio L, Candusso M, D'Orazio C, Mastella G, Faraguna D. Failure to thrive: the earliest feature of cystic fibrosis in infants diagnosed by neonatal screening. Acta Paediatr 1997;86:1162-5.
    • (1997) Acta Paediatr , vol.86 , pp. 1162-1165
    • Giglio, L.1    Candusso, M.2    D'Orazio, C.3    Mastella, G.4    Faraguna, D.5
  • 19
    • 0021835657 scopus 로고
    • Incidence in Italy, genetic heterogeneity and segregation analysis of cystic fibrosis
    • Romeo G, Bianco M, Devoto M, Menozzi P, Mastella G, Giunta AM, et al. Incidence in Italy, genetic heterogeneity and segregation analysis of cystic fibrosis. Am J Hum Genet 1985;37:338-49.
    • (1985) Am J Hum Genet , vol.37 , pp. 338-349
    • Romeo, G.1    Bianco, M.2    Devoto, M.3    Menozzi, P.4    Mastella, G.5    Giunta, A.M.6
  • 20
    • 0030921031 scopus 로고    scopus 로고
    • Newborn screening strategy for cystic fibrosis: A field study in an area with high allelic heterogeneity
    • Castellani C, Bonizzato A, Cabrini G, Mastella G. Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity. Acta Paediatr 1997;86:497-502.
    • (1997) Acta Paediatr , vol.86 , pp. 497-502
    • Castellani, C.1    Bonizzato, A.2    Cabrini, G.3    Mastella, G.4
  • 21
    • 0002382384 scopus 로고
    • The epidemiology of cystic fibrosis
    • Hodson ME, Geddes DM, eds.
    • Lewis PA. The epidemiology of cystic fibrosis. In: Hodson ME, Geddes DM, eds. Cystic Fibrosis 1995:1-13.
    • (1995) Cystic Fibrosis , pp. 1-13
    • Lewis, P.A.1
  • 22
    • 0014780978 scopus 로고
    • Clinical and statistical findings on the epidemiology of cystic fibrosis in Italy in the 4 years between 1966 and 1969
    • Antonelli M, Donfrancesco A. Clinical and statistical findings on the epidemiology of cystic fibrosis in Italy in the 4 years between 1966 and 1969. Fracastoro 1970;63:207-16.
    • (1970) Fracastoro , vol.63 , pp. 207-216
    • Antonelli, M.1    Donfrancesco, A.2
  • 23
    • 0019479972 scopus 로고
    • Neonatal screening for cystic fibrosis using immunoreactive trypsin assay in dried blood spots
    • Crossley JR, Smith PA, Edgar BW, Gluckman PD, Elliott RB. Neonatal screening for cystic fibrosis using immunoreactive trypsin assay in dried blood spots. Clin Chim Acta 1981;113:11-21.
    • (1981) Clin Chim Acta , vol.113 , pp. 11-21
    • Crossley, J.R.1    Smith, P.A.2    Edgar, B.W.3    Gluckman, P.D.4    Elliott, R.B.5
  • 24
    • 0027395872 scopus 로고
    • The changing epidemiology of cystic fibrosis
    • FitzSimmons SC. The changing epidemiology of cystic fibrosis. J Pediatr 1993;122:1-9.
    • (1993) J Pediatr , vol.122 , pp. 1-9
    • Fitzsimmons, S.C.1
  • 25
    • 0024411945 scopus 로고
    • Changing patterns of treatment and survival in neonates with meconium ileus
    • Rescorla FJ, Grosfeld JL, West KJ, Vane DW. Changing patterns of treatment and survival in neonates with meconium ileus. Arch Surg 1989;142:837-40.
    • (1989) Arch Surg , vol.142 , pp. 837-840
    • Rescorla, F.J.1    Grosfeld, J.L.2    West, K.J.3    Vane, D.W.4
  • 28
    • 0030754623 scopus 로고    scopus 로고
    • Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Bioined CF Mutation Analysis Consortium
    • Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Bioined CF Mutation Analysis Consortium. Hum Mutat 1997;10:135-54.
    • (1997) Hum Mutat , vol.10 , pp. 135-154
    • Estivill, X.1    Bancells, C.2    Ramos, C.3
  • 29
    • 0344264397 scopus 로고    scopus 로고
    • Evolution of cystic fibrosis alleles in cystic fibrosis
    • Dodge JA, Brock DJH, Widdicombe H, eds. John Wiley & Sons Ltd.
    • Estivill X, Morral N. Evolution of cystic fibrosis alleles in cystic fibrosis. In: Dodge JA, Brock DJH, Widdicombe H, eds. Current topics. John Wiley & Sons Ltd. 1996;3:141-64.
    • (1996) Current Topics , vol.3 , pp. 141-164
    • Estivill, X.1    Morral, N.2
  • 30
    • 0025134810 scopus 로고
    • Gradient of distribution in Europe of the major CF mutation and of its associated haplotype
    • European Working Group on CF Genetics (EWGCFG). Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum Genet 1990;85:436-45.
    • (1990) Hum Genet , vol.85 , pp. 436-445
  • 31
    • 0028033069 scopus 로고
    • Population variation of common cystic fibrosis mutation
    • The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutation. Hum Mut 1994;4:167-77.
    • (1994) Hum Mut , vol.4 , pp. 167-177
  • 32
    • 0025241696 scopus 로고
    • The relation between genotype and phenotype in cystic fibrosis: Analysis of the most common mutation (delta F508)
    • Kerem E, Corey M, Kerem BS, Rommens J, Markiewicz D, Levison H, et al. The relation between genotype and phenotype in cystic fibrosis: analysis of the most common mutation (delta F508). N Engl J Med 1990;323:1517-22.
    • (1990) N Engl J Med , vol.323 , pp. 1517-1522
    • Kerem, E.1    Corey, M.2    Kerem, B.S.3    Rommens, J.4    Markiewicz, D.5    Levison, H.6
  • 33
    • 0027517995 scopus 로고
    • Correlation behveen genotype and phenotype in patients with cystic fibrosis
    • The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation behveen genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993;329:1308-13.
    • (1993) N Engl J Med , vol.329 , pp. 1308-1313
  • 34
    • 0034089406 scopus 로고    scopus 로고
    • Genotype-phenotype relationships in cystic fibrosis
    • Mickle JE, Cutting GR. Genotype-phenotype relationships in cystic fibrosis. Med Clin North Am 2000;84:597-607.
    • (2000) Med Clin North Am , vol.84 , pp. 597-607
    • Mickle, J.E.1    Cutting, G.R.2
  • 35
    • 0028086056 scopus 로고
    • A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
    • Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994;331:974-80.
    • (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
  • 36
    • 0031456275 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation
    • De Braekeleer M, Allard C, Leblanc JP, Simard F, Aubin G. Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation. Hum Genet 1997;101:208-11.
    • (1997) Hum Genet , vol.101 , pp. 208-211
    • De Braekeleer, M.1    Allard, C.2    Leblanc, J.P.3    Simard, F.4    Aubin, G.5
  • 37
    • 0026019534 scopus 로고
    • Severity of cystic fibrosis in patients homozygous and heterozygous for delta F508 mutation
    • Johansen HK, Nir M, Hoiby N, Koch C, Schwartz M. Severity of cystic fibrosis in patients homozygous and heterozygous for delta F508 mutation. Lancet 1991;337:631-4.
    • (1991) Lancet , vol.337 , pp. 631-634
    • Johansen, H.K.1    Nir, M.2    Hoiby, N.3    Koch, C.4    Schwartz, M.5
  • 38
    • 0027018275 scopus 로고
    • Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes
    • Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, et al. Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes. Hum Mutat 1992;1:314-9.
    • (1992) Hum Mutat , vol.1 , pp. 314-319
    • Cremonesi, L.1    Ferrari, M.2    Belloni, E.3    Magnani, C.4    Seia, M.5    Ronchetto, P.6


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