-
1
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem B.-S., Rommens J.M., Buchanan J.Á., Markiewicz D., Cox T.I.C., Chakravati A., Buchwald M., Tsui L.-C. Identification of the cystic fibrosis gene: genetic analysis. Science. 245:1989;1073-1080.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.-S.1
Rommens, J.M.2
Buchanan, J.Á.3
Markiewicz, D.4
Cox, T.I.C.5
Chakravati, A.6
Buchwald, M.7
Tsui, L.-C.8
-
2
-
-
0024453308
-
Identification of the cystic fibrosis gene: Chromosome walking and jumping
-
Rommens J.M., Iannuzzi M.C., Kerem B.-S., Drumm M.L., Melmer G., Dean M., Rozmahel R., Cole J.L., Kennedy D., Hidaka N., Zsiga M., Buchwald M., Riordan J.R., Tsui L.-C., Collins F.S. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 245:1989;1059-1065.
-
(1989)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.-S.3
Drumm, M.L.4
Melmer, G.5
Dean, M.6
Rozmahel, R.7
Cole, J.L.8
Kennedy, D.9
Hidaka, N.10
Zsiga, M.11
Buchwald, M.12
Riordan, J.R.13
Tsui, L.-C.14
Collins, F.S.15
-
3
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of the complementary DNA
-
Riordan J.R., Rommens J.M., Kerem B.-S., Alon N., Rozmahel R., Grzelczak Z., Zielenski J., Lok S., Plavsic N., Chou J.-L., Drumm M.L., Iannuzzi M.C., Collins F.S., Tsui L.-C. Identification of the cystic fibrosis gene: cloning and characterization of the complementary DNA. Science. 245:1989;1066-1073.
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.-S.3
Alon, N.4
Rozmahel, R.5
Grzelczak, Z.6
Zielenski, J.7
Lok, S.8
Plavsic, N.9
Chou, J.-L.10
Drumm, M.L.11
Iannuzzi, M.C.12
Collins, F.S.13
Tsui, L.-C.14
-
4
-
-
0001752544
-
Cystic fibrosis
-
C.R. Scriver, A.L. Beaudet, D. Valle, & W.S. Sly. New York: McGraw-Hill
-
Welsh M.J., Ranzey B.W., Accurso F., Cutting G.R. Cystic fibrosis. Scriver C.R., Beaudet A.L., Valle D., Sly W.S. The Metabolic and Molecular Bases of Inherited Disease. eighth ed. 2001;5121-5173 McGraw-Hill, New York.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease eighth ed.
, pp. 5121-5173
-
-
Welsh, M.J.1
Ranzey, B.W.2
Accurso, F.3
Cutting, G.R.4
-
6
-
-
0027998620
-
CFTR mutations in Chylean cystic fibrosis patients
-
Rios J., Orellana O., Aspillaga M., Avendano I., Largo I., Riveros N. CFTR mutations in Chylean cystic fibrosis patients. Hum. Genet. 94:1994;291-294.
-
(1994)
Hum. Genet.
, vol.94
, pp. 291-294
-
-
Rios, J.1
Orellana, O.2
Aspillaga, M.3
Avendano, I.4
Largo, I.5
Riveros, N.6
-
7
-
-
0027303876
-
DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards
-
Raskin S., Phillips III J.A., Krishnamani M.R.S., Vnencak-Jones C., Parker R.A., Rozov T., Cardieri J.M., Marostica P., Abreu F., Giugliani R., Reis F., Rosario N.A., Ludwig N., Pilotto R.F. DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards. Am J. Med. Genet. 46:1993;665-669.
-
(1993)
Am J. Med. Genet.
, vol.46
, pp. 665-669
-
-
Raskin, S.1
Phillips J.A. III2
Krishnamani, M.R.S.3
Vnencak-Jones, C.4
Parker, R.A.5
Rozov, T.6
Cardieri, J.M.7
Marostica, P.8
Abreu, F.9
Giugliani, R.10
Reis, F.11
Rosario, N.A.12
Ludwig, N.13
Pilotto, R.F.14
-
8
-
-
0031081547
-
Regional distribution of cystic fibrosis-linked DNA haplotype in Brazil: Multicenter study
-
Raskin S., Philips III J.A., Krishnamani M.R.S., Vnencak-Jones C., Parker R.A., Dawson E., Rozov T., Cardieri J.M., Marostica P., Abreu F., Giugliani R., Reis F., Rosario N.A., Ludwig N., Culpi L. Regional distribution of cystic fibrosis-linked DNA haplotype in Brazil: multicenter study. Hum. Biol. 69:1997;75-88.
-
(1997)
Hum. Biol.
, vol.69
, pp. 75-88
-
-
Raskin, S.1
Philips J.A. III2
Krishnamani, M.R.S.3
Vnencak-Jones, C.4
Parker, R.A.5
Dawson, E.6
Rozov, T.7
Cardieri, J.M.8
Marostica, P.9
Abreu, F.10
Giugliani, R.11
Reis, F.12
Rosario, N.A.13
Ludwig, N.14
Culpi, L.15
-
9
-
-
0026270314
-
Is clinical status at diagnosis a prognostic factor in CF infants identified by neonatal screening?
-
Faraguna D., Giglio L., D'Orazio C., Pederzini F., Venderweis U., Mastella G. Is clinical status at diagnosis a prognostic factor in CF infants identified by neonatal screening? Ped. Pulmon. Suppl. 7:1991;46-51.
-
(1991)
Ped. Pulmon. Suppl.
, vol.7
, pp. 46-51
-
-
Faraguna, D.1
Giglio, L.2
D'Orazio, C.3
Pederzini, F.4
Venderweis, U.5
Mastella, G.6
-
10
-
-
0028350689
-
Prognosis in cystic fibrosis treated with continuous fluoxacillin from the neonatal period
-
Weaver L.T., Green M.R., Nicholson K., Mills J., Heeley M.E., Kuzemko J.Á., Austin S., Gregory G.A., Dux A.E., Davis J.Á. Prognosis in cystic fibrosis treated with continuous fluoxacillin from the neonatal period. Arch. Dis. Child. 70:1994;84-90.
-
(1994)
Arch. Dis. Child
, vol.70
, pp. 84-90
-
-
Weaver, L.T.1
Green, M.R.2
Nicholson, K.3
Mills, J.4
Heeley, M.E.5
Kuzemko, J.Á.6
Austin, S.7
Gregory, G.A.8
Dux, A.E.9
Davis, J.Á.10
-
11
-
-
0029130343
-
The impact of newborn screening on cystic fibrosis testing in Victoria, Australia
-
Balnaves M.E., Bonacquisto L., Francis I., Glazner J., Forrest S. The impact of newborn screening on cystic fibrosis testing in Victoria, Australia. J. Med. Genet. 32:1995;537-542.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 537-542
-
-
Balnaves, M.E.1
Bonacquisto, L.2
Francis, I.3
Glazner, J.4
Forrest, S.5
-
12
-
-
0024284028
-
A simple salting-out procedure for extracting DNA from human nucleated cells
-
Miller A.S. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, A.S.1
-
13
-
-
0025760318
-
Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Zielenski J., Rozmahel R., Bozon D., Kerem B.-S., Grzelczak Z., Riordan J., Rommens J., Tsui L.-C. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 10:1991;214-228.
-
(1991)
Genomics
, vol.10
, pp. 214-228
-
-
Zielenski, J.1
Rozmahel, R.2
Bozon, D.3
Kerem, B.-S.4
Grzelczak, Z.5
Riordan, J.6
Rommens, J.7
Tsui, L.-C.8
-
14
-
-
0025801372
-
The incidence of the different cystic fibrosis mutations in the Scottish population: Effects on prenatal diagnosis and genetic counseling
-
Shrimpton A.E., McIntish I., Brock D.J.H. The incidence of the different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counseling. J. Med. Genet. 28:1991;317-322.
-
(1991)
J. Med. Genet.
, vol.28
, pp. 317-322
-
-
Shrimpton, A.E.1
McIntish, I.2
Brock, D.J.H.3
-
15
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M., Iwahana H., Kanazawa H., Hayashi K., Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA. 86:1989;2766-2770.
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
16
-
-
0024756969
-
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
-
Orita M., Suzuky Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 5:1989;874-879.
-
(1989)
Genomics
, vol.5
, pp. 874-879
-
-
Orita, M.1
Suzuky, Y.2
Sekiya, T.3
Hayashi, K.4
-
17
-
-
0025968683
-
Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE
-
Budowle B., Chakaborty R., Giusti A.M., Eisenberg A.J., Allen R.C. Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE. Am J. Hum. Genet. 48:1991;137-144.
-
(1991)
Am J. Hum. Genet.
, vol.48
, pp. 137-144
-
-
Budowle, B.1
Chakaborty, R.2
Giusti, A.M.3
Eisenberg, A.J.4
Allen, R.C.5
-
18
-
-
0025609513
-
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease
-
Cutting G.R., Kash L.M., Rosenstein B.J., Tsui L.-C., Kazazian H.H. Jr., Antonarakis S.E. Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. New Engl. J. Med. 323:1990;1685-1689.
-
(1990)
New Engl. J. Med.
, vol.323
, pp. 1685-1689
-
-
Cutting, G.R.1
Kash, L.M.2
Rosenstein, B.J.3
Tsui, L.-C.4
Kazazian H.H., Jr.5
Antonarakis, S.E.6
-
19
-
-
0025310336
-
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis condutance regulator protein
-
Cutting G.R., Kash L.M., Rosenstein B.J., Zielenski J., Tsui L.-C., Antonarakis S.E., Kazazian H.H. Jr. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis condutance regulator protein. Nature. 346:1990;366-369.
-
(1990)
Nature
, vol.346
, pp. 366-369
-
-
Cutting, G.R.1
Kash, L.M.2
Rosenstein, B.J.3
Zielenski, J.4
Tsui, L.-C.5
Antonarakis, S.E.6
Kazazian H.H., Jr.7
-
20
-
-
0024560882
-
Modification of enzymatically amplified DNA for detection of point mutations
-
Haliassos A., Chomei J.C., Tesson L., Baudis M., Kruh J., Kaplan J.C., Kitzis A. Modification of enzymatically amplified DNA for detection of point mutations. Nucleic Acids Res. 17:1989;3606.
-
(1989)
Nucleic Acids Res.
, vol.17
, pp. 3606
-
-
Haliassos, A.1
Chomei, J.C.2
Tesson, L.3
Baudis, M.4
Kruh, J.5
Kaplan, J.C.6
Kitzis, A.7
-
21
-
-
0025946358
-
Methods for analysis of multiple cystic fibrosis mutations
-
Ng I.S.L., Pace R., Richard M., Kobayashi K., Kerem B.-T., Tsui L.-C., Beaudet A.L. Methods for analysis of multiple cystic fibrosis mutations. Hum. Genet. 87:1991;613-617.
-
(1991)
Hum. Genet.
, vol.87
, pp. 613-617
-
-
Ng, I.S.L.1
Pace, R.2
Richard, M.3
Kobayashi, K.4
Kerem, B.-T.5
Tsui, L.-C.6
Beaudet, A.L.7
-
22
-
-
0026503640
-
Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish Cystic Fibrosis patients in Israel, with presentation of severe disease
-
Soshani T., Augarten A., Gazit E., Bashan N., Yahav Y., Rivlin Y., Tal A., Seret H., Yaar l., Kerem E., Kerem B.-S. Association of a 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. 50:1992;222-228.
-
(1992)
Am J. Hum. Genet.
, vol.50
, pp. 222-228
-
-
Soshani, 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.-S.11
-
24
-
-
0032856811
-
Cystic fibrosis mutations R1162X and 2183AA → G in two southern Brazilian states
-
Pereira L., Raskin S., Freund A.A., Ribas P., Castro R., Pignatti P., Culpi L. Cystic fibrosis mutations R1162X and 2183AA. → G in two southern Brazilian states Gen. Mol. Biol. 22(3):1999;291-294.
-
(1999)
Gen. Mol. Biol.
, vol.22
, Issue.3
, pp. 291-294
-
-
Pereira, L.1
Raskin, S.2
Freund, A.A.3
Ribas, P.4
Castro, R.5
Pignatti, P.6
Culpi, L.7
-
25
-
-
0033083982
-
Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil
-
Raskin S., Philips III J.A., Kaplan G., Mcclure M., Vnencak-Jones C., Rozov T., Cardieri J.M., Marostica P., Abreu F., Giugliani R., Reis F., Rosario N.A., Ludwig N., Pereira L., Faucz F., Gabardo J., Culpi L. Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil. Hum. Biol. 71:1999;103-113.
-
(1999)
Hum. Biol.
, vol.71
, pp. 103-113
-
-
Raskin, S.1
Philips J.A. III2
Kaplan, G.3
Mcclure, M.4
Vnencak-Jones, C.5
Rozov, T.6
Cardieri, J.M.7
Marostica, P.8
Abreu, F.9
Giugliani, R.10
Reis, F.11
Rosario, N.A.12
Ludwig, N.13
Pereira, L.14
Faucz, F.15
Gabardo, J.16
Culpi, L.17
-
26
-
-
0030754623
-
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
-
X. Estivill, C. Bancells, C. Ramos, and Biomed CF Mutation Analysis Consortium, Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations, Hum. Mutat. 10 (1997) 135-154.
-
(1997)
Hum. Mutat.
, vol.10
, pp. 135-154
-
-
Estivill, X.1
Bancells, C.2
Ramos, C.3
-
27
-
-
0032039748
-
Analysis of the ΔF508 mutation in Brazilian cystic fibrosis population: Comparison of pulmonary status of homozygotes with other patients
-
Maróstica P.J., Raskin S., Abreu F.A. Analysis of the ΔF508 mutation in Brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients. Braz. J. Med. Biol. Res. 31:1998;529-532.
-
(1998)
Braz. J. Med. Biol. Res.
, vol.31
, pp. 529-532
-
-
Maróstica, P.J.1
Raskin, S.2
Abreu, F.A.3
-
28
-
-
0034090798
-
Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations
-
Bernardino A.L., Ferri A., Passos-Bueno M.R., Kim C.E., Nakaie C.M., Gomes C.E., Damasceno N., Zatz M. Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. Genet. Test. 4:2000;69-74.
-
(2000)
Genet. Test
, vol.4
, pp. 69-74
-
-
Bernardino, A.L.1
Ferri, A.2
Passos-Bueno, M.R.3
Kim, C.E.4
Nakaie, C.M.5
Gomes, C.E.6
Damasceno, N.7
Zatz, M.8
-
29
-
-
0031215083
-
Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution
-
Raskin S., Philips III J.A., Krishnamani M.R.S., Vnencak-Jones C., Parker R.A., Rozov T., Cardieri J.M., Marostica P., Abreu F., Giugliani R., Reis F., Rosario N.A., Ludwig N., Culpi L. Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution. Hum. Biol. 69:1997;499-508.
-
(1997)
Hum. Biol.
, vol.69
, pp. 499-508
-
-
Raskin, S.1
Philips J.A. III2
Krishnamani, M.R.S.3
Vnencak-Jones, C.4
Parker, R.A.5
Rozov, T.6
Cardieri, J.M.7
Marostica, P.8
Abreu, F.9
Giugliani, R.10
Reis, F.11
Rosario, N.A.12
Ludwig, N.13
Culpi, L.14
-
30
-
-
0027573326
-
Use of PCR for the determination of the frequency of ΔF508 mutation in Brazilian cystic fibrosis patients
-
de Miranda A.B., Llerena J. Jr., Dallalana L.T., Moura-Neto R.S., Suffys P.N., Degrave W.M. Use of PCR for the determination of the frequency of ΔF508 mutation in Brazilian cystic fibrosis patients. Mem. Inst. Oswaldo Cruz. 88:1993;309-312.
-
(1993)
Mem. Inst. Oswaldo Cruz.
, vol.88
, pp. 309-312
-
-
De Miranda, A.B.1
Llerena J., Jr.2
Dallalana, L.T.3
Moura-Neto, R.S.4
Suffys, P.N.5
Degrave, W.M.6
-
31
-
-
0034743399
-
The 3120+1G > A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients
-
Cabello G.M., Cabello E.H., Llerena J. Jr., Fernande O., Harris A. The 3120+1G. > A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients Hum. Biol. 73:2001;403-409.
-
(2001)
Hum. Biol.
, vol.73
, pp. 403-409
-
-
Cabello, G.M.1
Cabello, E.H.2
Llerena J., Jr.3
Fernande, O.4
Harris, A.5
-
32
-
-
0027674061
-
Frequency of the cystic fibrosis ΔF508 mutation in a population from São Paulo state
-
Martins C.S., Ribeiro F., Costa F.F. Frequency of the cystic fibrosis ΔF508 mutation in a population from São Paulo state. Braz. J. Med. Biol. Res. 26:1993;1037-1040.
-
(1993)
Braz. J. Med. Biol. Res.
, vol.26
, pp. 1037-1040
-
-
Martins, C.S.1
Ribeiro, F.2
Costa, F.F.3
|