-
1
-
-
0002314552
-
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
-
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
-
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
-
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
-
-
-
5
-
-
0031048465
-
Spectrum of CFTR mutations in argentine cystic fibrosis patients
-
Chertkoff L, Visich A, Bienvenu T, Grenoville M, Segal E, Carniglia L, et al. Spectrum of CFTR mutations in argentine cystic fibrosis patients. Clin Genet 1997: 51: 43-47.
-
(1997)
Clin. Genet.
, vol.51
, pp. 43-47
-
-
Chertkoff, L.1
Visich, A.2
Bienvenu, T.3
Grenoville, M.4
Segal, E.5
Carniglia, L.6
-
6
-
-
0029704247
-
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
-
7
-
-
2042542441
-
CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel
-
Skach W, ed. Totowa, NJ: The Humana Press, (in press)
-
Zielenski J, Aznarez I, Onay T, Tzountzouris J, Markiewicz D, et al. CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel. In: Skach W, ed. Cystic fibrosis methods and protocols - methods in molecular medicine series. Totowa, NJ: The Humana Press, (in press).
-
Cystic Fibrosis Methods and Protocols - Methods in Molecular Medicine Series
-
-
Zielenski, J.1
Aznarez, I.2
Onay, T.3
Tzountzouris, J.4
Markiewicz, D.5
-
8
-
-
9244225677
-
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
-
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
-
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
-
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
-
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
-
14
-
-
0034090798
-
Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations
-
Bernardino ALF, Ferri A, Passos-Bueno MR, Kim CEA, Nakaie CMA, Gómez CET, et al. Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. Genetic Testing 2000: 4: 69-74.
-
(2000)
Genetic Testing
, vol.4
, pp. 69-74
-
-
Bernardino, A.L.F.1
Ferri, A.2
Passos-Bueno, M.R.3
Kim, C.E.A.4
Nakaie, C.M.A.5
Gómez, C.E.T.6
-
15
-
-
4243379857
-
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
-
16
-
-
0027998620
-
CFTR mutations in Chilean cystic fibrosis patients
-
Ríos J, Orellana O, Aspillaga M, Avendano I, Largo I, Riveros N. CFTR mutations in Chilean cystic fibrosis patients. Hum Genet 1994: 94: 291-294.
-
(1994)
Hum. Genet.
, vol.94
, pp. 291-294
-
-
Ríos, J.1
Orellana, O.2
Aspillaga, M.3
Avendano, I.4
Largo, I.5
Riveros, N.6
-
17
-
-
0012525675
-
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
-
Seroantropología argentina
-
Palatnik M. Seroantropología argentina. Sangre 1966: 11: 395-412.
-
(1966)
Sangre
, vol.11
, pp. 395-412
-
-
Palatnik, M.1
-
19
-
-
0012581231
-
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
-
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
-
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
-
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
-
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
-
24
-
-
0035169491
-
The molecular basis of cystic fibrosis in South Africa
-
Goldman A, Labrum R, Claustres M, Desgeorges M, Guittard C, Wallace A, et al. The molecular basis of cystic fibrosis in South Africa. Clin Genet 2001: 59: 37-41.
-
(2001)
Clin. Genet.
, vol.59
, pp. 37-41
-
-
Goldman, A.1
Labrum, R.2
Claustres, M.3
Desgeorges, M.4
Guittard, C.5
Wallace, A.6
-
25
-
-
0034940302
-
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
-
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
-
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
|