메뉴 건너뛰기




Volumn 61, Issue 3, 2002, Pages 207-213

Complete screening of the CFTR gene in Argentine cystic fibrosis patients

Author keywords

Argentine population; CFTR mutations; Cystic fibrosis

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0036524147     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610307.x     Document Type: Article
Times cited : (23)

References (27)
  • 1
    • 0002314552 scopus 로고
    • Cystic fibrosis
    • Scriver CR, Beadet AL, Sly WS, Valle D, eds. New York, NY. McGraw-Hill
    • Boat TF, Welsh MJ, Beadet AL. Cystic fibrosis. In: Scriver CR, Beadet AL, Sly WS, Valle D, eds. The metabolic basic inherited disease. New York, NY. McGraw-Hill, 1989: 2649-2680.
    • (1989) The Metabolic Basic Inherited Disease , pp. 2649-2680
    • Boat, T.F.1    Welsh, M.J.2    Beadet, A.L.3
  • 2
    • 23544477867 scopus 로고    scopus 로고
    • Screening neonatal de fibrosis quística. Experiencia en más de 100.000 neonatos estudiados
    • Proceedings of the IX Congreso Latinoamericano de Fibrosis Quística, Buenos Aires: Sociedad Argentina de Pediatría
    • Borrajo GJC, Adam MM, Castillo PI, Lanz MH, Di Carlo CM, Gómez FR, et al. Screening neonatal de fibrosis quística. Experiencia en más de 100.000 neonatos estudiados. In: Proceedings of the IX Congreso Latinoamericano de Fibrosis Quística, Buenos Aires: Sociedad Argentina de Pediatría, 1999: 83.
    • (1999) , pp. 83
    • Borrajo, G.J.C.1    Adam, M.M.2    Castillo, P.I.3    Lanz, M.H.4    Di Carlo, C.M.5    Gómez, F.R.6
  • 3
    • 0012522704 scopus 로고    scopus 로고
    • Update list March 2000
    • Cystic Fibrosis Genetic Analysis Consortium (CFGAC). (www.genet.sickkids.on.ca/oftr/)
    • Cystic Fibrosis Genetic Analysis Consortium (CFGAC). Update list March 2000. In: Cystic Fibrosis mutation database (www.genet.sickkids.on.ca/oftr/).
    • Cystic Fibrosis Mutation Database
  • 4
    • 0028033069 scopus 로고
    • Population variation of common cystic fibrosis mutations
    • Cystic Fibrosis Genetic Analysis Consortium (CFGAC)
    • Cystic Fibrosis Genetic Analysis Consortium (CFGAC). Population variation of common cystic fibrosis mutations. Hum Mutat 1994: 4: 167-177.
    • (1994) Hum. Mutat. , vol.4 , pp. 167-177
  • 6
    • 0029704247 scopus 로고    scopus 로고
    • Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients
    • Bienvenu T, Chertkoff L, Beldjord C, Segal E, Carniglia L, Barreiro C, et al. Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients. Hum Mutat 1996: 7: 376-377.
    • (1996) Hum. Mutat. , vol.7 , pp. 376-377
    • Bienvenu, T.1    Chertkoff, L.2    Beldjord, C.3    Segal, E.4    Carniglia, L.5    Barreiro, C.6
  • 8
    • 9244225677 scopus 로고
    • A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine iontophoresis
    • Gibson L, Cooke R. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine iontophoresis. Pediatrics 1959: 3: 545.
    • (1959) Pediatrics , vol.3 , pp. 545
    • Gibson, L.1    Cooke, R.2
  • 10
    • 0028086056 scopus 로고
    • A novel mutation in the cystic fibrosis gene in patient 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 patient with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994: 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
  • 11
    • 0031433107 scopus 로고    scopus 로고
    • High heterogeneity for cystic fibrosis Spanish families: 75 mutations account for 90% of chromosomes
    • Casals T, Ramos MD, Giménez J, Larriba S, Nunes V, Estivill X. High heterogeneity for cystic fibrosis Spanish families: 75 mutations account for 90% of chromosomes. Hum Genet 1997: 101: 365-370.
    • (1997) Hum. Genet. , vol.101 , pp. 365-370
    • Casals, T.1    Ramos, M.D.2    Giménez, J.3    Larriba, S.4    Nunes, V.5    Estivill, X.6
  • 12
    • 0028902968 scopus 로고
    • Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: Identification of 90% of the mutations
    • Bonizzato A, Bisceglia L, Mariggo C, Nicolis E, Bombieri C, Castellani C, et al. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: identification of 90% of the mutations. Hum Genet 1995: 95: 397-402.
    • (1995) Hum. Genet. , vol.95 , pp. 397-402
    • Bonizzato, A.1    Bisceglia, L.2    Mariggo, C.3    Nicolis, E.4    Bombieri, C.5    Castellani, C.6
  • 13
    • 0343527249 scopus 로고    scopus 로고
    • Spectrum of CFTR mutations in Mexican cystic fibrosis patients: Identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-IG→A)
    • Orozco L, Zielenski J, Tsui L-C, Chávez M, Lezana JL, Saldaña Y, et al. Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-IG→A). Hum Genet 2000: 106: 360-365.
    • (2000) Hum. Genet. , vol.106 , pp. 360-365
    • Orozco, L.1    Zielenski, J.2    Tsui, L.-C.3    Chávez, M.4    Lezana, J.L.5    Saldaña, Y.6
  • 15
    • 4243379857 scopus 로고    scopus 로고
    • Análisis de las frecuencias de las mutaciones de fibrosis quística según criterios diagnósticos en una muestra de la población uruguaya
    • Proceedings of the IX Congreso Latinoamericano de Fibrosis Quística, Buenos Aires: Sociedad Argentina de Pediatra
    • Luzardo G, Crispino B, Mimbacas A, Martínez L, Cardozo G. Análisis de las frecuencias de las mutaciones de fibrosis quística según criterios diagnósticos en una muestra de la población uruguaya. In: Proceedings of the IX Congreso Latinoamericano de Fibrosis Quística, Buenos Aires: Sociedad Argentina de Pediatra, 1999: 87.
    • (1999) , pp. 87
    • Luzardo, G.1    Crispino, B.2    Mimbacas, A.3    Martínez, L.4    Cardozo, G.5
  • 17
    • 0012525675 scopus 로고    scopus 로고
    • Situación de la fibrosis quística en Argentina
    • Proceedings of the IX Congreso Latinoamericano de Fibrosis Quística, Buenos Aires: Sociedad Argentina de Pediatría
    • Gentile AS, Sauri L, Macri CN. Situación de la fibrosis quística en Argentina. In: Proceedings of the IX Congreso Latinoamericano de Fibrosis Quística, Buenos Aires: Sociedad Argentina de Pediatría, 1999: 73.
    • (1999) , pp. 73
    • Gentile, A.S.1    Sauri, L.2    Macri, C.N.3
  • 18
    • 0013982096 scopus 로고
    • Seroantropología argentina
    • Palatnik M. Seroantropología argentina. Sangre 1966: 11: 395-412.
    • (1966) Sangre , vol.11 , pp. 395-412
    • Palatnik, M.1
  • 19
    • 0012581231 scopus 로고    scopus 로고
    • La población no Nativa de la Argentina
    • Buenos Aires: Instituto Nacional de Estadísticas y Censos
    • Macció GA, Elizalde D. La población no Nativa de la Argentina. Buenos Aires: Instituto Nacional de Estadísticas y Censos, 1996.
    • (1996)
    • Macció, G.A.1    Elizalde, D.2
  • 20
    • 0026503640 scopus 로고
    • Association of nonsense mutation (W1282X), 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, et al. Association of nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet 1992: 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
  • 21
    • 0027278161 scopus 로고
    • Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+10kbC→T mutation
    • Augarten A, Kerem B-S, Yahav Y, Noiman S, Rivlin J, Blau H, et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+10kbC→T mutation. Lancet 1993: 342: 25-26.
    • (1993) Lancet , vol.342 , pp. 25-26
    • Augarten, A.1    Kerem, B.-S.2    Yahav, Y.3    Noiman, S.4    Rivlin, J.5    Blau, H.6
  • 22
    • 77149154368 scopus 로고
    • Special topic: Ethnic and economic characteristics
    • New York, NY: Statistical office of the United Nations
    • Demographic Yearbook. Special topic: ethnic and economic characteristics. New York, NY: Statistical office of the United Nations, 1956: 272-274.
    • (1956) Demographic Yearbook. , pp. 272-274
  • 23
    • 0029164395 scopus 로고
    • Mutation analysis of 10 exons of the CFTR gene in Greek cystic fibrosis patients: Characterization of 74.5% of CF alleles including one novel mutation
    • Kanavakis E, Tzetis M, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, et al. Mutation analysis of 10 exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation. Hum Genet 1995: 96: 364-366.
    • (1995) Hum. Genet. , vol.96 , pp. 364-366
    • Kanavakis, E.1    Tzetis, M.2    Antoniadi, T.3    Traeger-Synodinos, J.4    Doudounakis, S.5    Adam, G.6
  • 25
    • 0034940302 scopus 로고    scopus 로고
    • Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients
    • Onay T, Zielenski J, Topalogu O, Gokgoz N, Kayserili H, Apak MY, et al. Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients. Hum Biol 2001: 73: 191-203.
    • (2001) Hum. Biol. , vol.73 , pp. 191-203
    • Onay, T.1    Zielenski, J.2    Topalogu, O.3    Gokgoz, N.4    Kayserili, H.5    Apak, M.Y.6
  • 26
    • 0030791025 scopus 로고    scopus 로고
    • Methods for detection of point mutations: Performance and quality assessment
    • IFCC Scientific Division, Committee on Molecular Biology Techniques
    • Nollau P, Wagener C. Methods for detection of point mutations: performance and quality assessment. IFCC Scientific Division, Committee on Molecular Biology Techniques. Clin Chem 1997: 43: 1114-1128.
    • (1997) Clin. Chem. , vol.43 , pp. 1114-1128
    • Nollau, P.1    Wagener, C.2
  • 27
    • 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: 589-595.
    • (1998) J. Pediatr. , vol.132 , pp. 589-595
    • Rosenstein, B.J.1    Cutting, G.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.