-
1
-
-
0027517995
-
Correlation between genotype and phenotype in patients with cystic fibrosis
-
Amosh, A., and Cystic Fibrosis Genotype-Phenotype Consortium. 1993. Correlation between genotype and phenotype in patients with cystic fibrosis. New Engl. J. Med. 329:1308-1313.
-
(1993)
New Engl. J. Med.
, vol.329
, pp. 1308-1313
-
-
Amosh, A.C.1
-
2
-
-
0025830236
-
A cystic fibrosis patient homozygous for the nonsense mutation R553X
-
Bal, J., M. Stuhrmann, M. Scloesser et al. 1991. A cystic fibrosis patient homozygous for the nonsense mutation R553X. J. Med. Genet. 28:715-717.
-
(1991)
J. Med. Genet.
, vol.28
, pp. 715-717
-
-
Bal, J.1
Stuhrmann, M.2
Scloesser, M.3
-
3
-
-
0002314552
-
Cystic fibrosis
-
A.L. Scriver, A.L. Beaudet, W.S. Sly et al., eds. New York: McGraw-Hill
-
Boat, T.F., M.J. Welsh, and A.L. Beaudet. 1989. Cystic fibrosis. In The Metabolic Basis of Inherited Disease, A.L. Scriver, A.L. Beaudet, W.S. Sly et al., eds. New York: McGraw-Hill, 2649-2680.
-
(1989)
The Metabolic Basis of Inherited Disease
, pp. 2649-2680
-
-
Boat, T.F.1
Welsh, M.J.2
Beaudet, A.L.3
-
4
-
-
0025856773
-
Mild cystic fibrosis in child homozygous for G542X non-sense mutations in CF gene
-
Bonduelle, M., W. Lissens, I. Liebaers et al. 1991. Mild cystic fibrosis in child homozygous for G542X non-sense mutations in CF gene. Lancet 338:189.
-
(1991)
Lancet
, vol.338
, pp. 189
-
-
Bonduelle, M.1
Lissens, W.2
Liebaers, I.3
-
5
-
-
85196601918
-
-
Rio de Janeiro, Brazil: Instituto Brasileiro de Geografia e Estatistica
-
Brazilian Census. 1989. Pesquisa National por Amostra de Domicilias, capitula 22-cor. Rio de Janeiro, Brazil: Instituto Brasileiro de Geografia e Estatistica.
-
(1989)
Pesquisa National por Amostra de Domicilias, Capitula 22-Cor
-
-
-
6
-
-
85196598136
-
-
Rio de Janeiro, Brazil: Instituto Brasileiro de Geografia e Estatistica
-
Brazilian Census. 1991. X Recenseamento Geral do Brasil, 1990, Resultados preliminares. Rio de Janeiro, Brazil: Instituto Brasileiro de Geografia e Estatistica, v. 1, no. 1, 35.
-
(1991)
X Recenseamento Geral do Brasil, 1990, Resultados Preliminares
, vol.1
, Issue.1
, pp. 35
-
-
-
7
-
-
0028817201
-
Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton, and Czech patients
-
Cashman, S.M., A. Patino, A. Martinez et al. 1995. Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton, and Czech patients. Hum. Hered. 45(1):6-12.
-
(1995)
Hum. Hered.
, vol.45
, Issue.1
, pp. 6-12
-
-
Cashman, S.M.1
Patino, A.2
Martinez, A.3
-
8
-
-
0025169367
-
A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew
-
Cuppens, H., P. Marynen, C. De Boeck et al. 1990. A child, homozygous for a stop codon in exon 11, shows milder cystic fibrosis symptoms than her heterozygous nephew. J. Med. Genet. 27:717-719.
-
(1990)
J. Med. Genet.
, vol.27
, pp. 717-719
-
-
Cuppens, H.1
Marynen, P.2
De Boeck, C.3
-
9
-
-
0025310336
-
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis transmembrane regulator protein
-
Cutting, G.R., L.M. Kasch, B.J. Rosenstein et al. 1990. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis transmembrane regulator protein. Nature 346:366-368.
-
(1990)
Nature
, vol.346
, pp. 366-368
-
-
Cutting, G.R.1
Kasch, L.M.2
Rosenstein, B.J.3
-
10
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
Cystic Fibrosis Genetic Analysis Consortium. 1994. Population variation of common cystic fibrosis mutations. Hum. Mutat. 4:167-177.
-
(1994)
Hum. Mutat.
, vol.4
, pp. 167-177
-
-
-
11
-
-
85196583296
-
-
Cystic Fibrosis Genetic Analysis Consortium. 1997. CFGAC Newsletter 69. Available at http:// www.genet.sickkids.on.ca/cftr-cgi-bin/news?nl=69.
-
(1997)
CFGAC Newsletter 69
-
-
-
12
-
-
0026551786
-
Intra-and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families
-
Dork, T., T. Neumann, U. Wulbrand et al. 1992. Intra-and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum. Genet. 88:417-425.
-
(1992)
Hum. Genet.
, vol.88
, pp. 417-425
-
-
Dork, T.1
Neumann, T.2
Wulbrand, U.3
-
13
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem, B., J.M. Rommens, J.A. Buchanan et al. 1989. Identification of the cystic fibrosis gene: Genetic analysis. Science 245:1073-1080.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
-
14
-
-
0025133518
-
Identification of mutations in regions corresponding to the 2nd putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
-
Kerem, B.S., J. Zielinski, D. Markiewicz et al. 1990. Identification of mutations in regions corresponding to the 2nd putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc. Natl. Acad. Sci. USA 87:8447-8451.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 8447-8451
-
-
Kerem, B.S.1
Zielinski, J.2
Markiewicz, D.3
-
15
-
-
0025241696
-
The relation between genotype and phenotype in cystic fibrosis: Analysis of the most common mutation (ΔF508)
-
Kerem, E., M. Corey, B.S. Kerem et al. 1990. The relation between genotype and phenotype in cystic fibrosis: Analysis of the most common mutation (ΔF508). New Engl. J. Med. 323(22):1517-1522.
-
(1990)
New Engl. J. Med.
, vol.323
, Issue.22
, pp. 1517-1522
-
-
Kerem, E.1
Corey, M.2
Kerem, B.S.3
-
16
-
-
0025946358
-
Methods for analysis of multiple cystic fibrosis mutations
-
Ng, I.S.L., R. Pace, M.V. Richard et al. 1991. Methods for analysis of multiple cystic fibrosis mutations. Hum. Genet. 87:613-617.
-
(1991)
Hum. Genet.
, vol.87
, pp. 613-617
-
-
Ng, I.S.L.1
Pace, R.2
Richard, M.V.3
-
17
-
-
0026004723
-
Analysis of 14 cystic fibrosis mutations in five south European populations
-
Nunes, V., P. Gasparini, G. Novelli et al. 1991. Analysis of 14 cystic fibrosis mutations in five south European populations. Hum. Genet 87:737-738.
-
(1991)
Hum. Genet
, vol.87
, pp. 737-738
-
-
Nunes, V.1
Gasparini, P.2
Novelli, G.3
-
18
-
-
0026793363
-
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene
-
Osborne, L., G. Santis, M. Schwarz et al. 1992. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Hum. Genet. 89:653-658.
-
(1992)
Hum. Genet.
, vol.89
, pp. 653-658
-
-
Osborne, L.1
Santis, G.2
Schwarz, M.3
-
19
-
-
0026669906
-
Utility of internal markers to improve the accuracy of cystic fibrosis genotype analysis
-
Raskin, S., J.A. Phillips, E. Dawson et al. 1992a. Utility of internal markers to improve the accuracy of cystic fibrosis genotype analysis. Biotechniques 13:2-3.
-
(1992)
Biotechniques
, vol.13
, pp. 2-3
-
-
Raskin, S.1
Phillips, J.A.2
Dawson, E.3
-
20
-
-
85045497945
-
Cystic fibrosis genotyping by direct PCR analysis of guthrie blood spots
-
Raskin, S., J.A. Phillips, G. Kaplan et al. 1992b. Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots. PCR Meth. Appl. 2(2): 154-156.
-
(1992)
PCR Meth. Appl.
, vol.2
, Issue.2
, pp. 154-156
-
-
Raskin, S.1
Phillips, J.A.2
Kaplan, G.3
-
21
-
-
85196583050
-
Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution
-
Raskin, S., J.A. Phillips, G. Kaplan et al. 1997a. Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution. Hum. Biol. 69(4):509-518.
-
(1997)
Hum. Biol.
, vol.69
, Issue.4
, pp. 509-518
-
-
Raskin, S.1
Phillips, J.A.2
Kaplan, G.3
-
22
-
-
0027303876
-
DNA analysis of cystic fibrosis in brazil by direct PCR amplification from Guthrie cards
-
Raskin, S., J.A. Phillips, M.R.S. Krishnamani et al. 1993. DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards. Am. J. Med. Genet. 46:665-669.
-
(1993)
Am. J. Med. Genet.
, vol.46
, pp. 665-669
-
-
Raskin, S.1
Phillips, J.A.2
Krishnamani, M.R.S.3
-
23
-
-
0031081547
-
Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: Multicenter study
-
Raskin, S., J.A. Phillips, M.R.S. Krishnamani et al. 1997b. Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: Multicenter study. Hum. Biol. 69(1):75-88.
-
(1997)
Hum. Biol.
, vol.69
, Issue.1
, pp. 75-88
-
-
Raskin, S.1
Phillips, J.A.2
Krishnamani, M.R.S.3
-
24
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
Riordan, J.R., J.M. Rommens, B. Kerem et al. 1989. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245:1066-1073.
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.3
-
25
-
-
0024453308
-
Identification of the cystic fibrosis gene: Chromosome walking and jumping
-
Rommens, J.M., M.C. Iannuzi, B. Kerem et al. 1989. Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 245:1059-1065.
-
(1989)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzi, M.C.2
Kerem, B.3
-
26
-
-
0023850178
-
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
-
Saiki, R.K., D.H. Gelfand, S. Stoffel et al. 1988. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487-491.
-
(1988)
Science
, vol.239
, pp. 487-491
-
-
Saiki, R.K.1
Gelfand, D.H.2
Stoffel, S.3
-
27
-
-
0004105258
-
-
São Paulo, Brazil: Companhia Editora Nacional
-
Salzano, F.M., and N. Freire-Maia. 1967. Populacoes Brasileiras: Aspectos demograficos, geneticos e antropologicos. São Paulo, Brazil: Companhia Editora Nacional, 1-44.
-
(1967)
Populacoes Brasileiras: Aspectos Demograficos, Geneticos e Antropologicos
, pp. 1-44
-
-
Salzano, F.M.1
Freire-Maia, N.2
-
28
-
-
0141815207
-
Ethics and medical genetics in Brazil
-
D. Wertz and J.C. Fletcher, eds. New York: Springer Verlag
-
Salzano, F.M., and S.D.J. Peña. 1987. Ethics and medical genetics in Brazil. In Ethics and Human Genetics, D. Wertz and J.C. Fletcher, eds. New York: Springer Verlag, 100-118.
-
(1987)
Ethics and Human Genetics
, pp. 100-118
-
-
Salzano, F.M.1
Peña, S.D.J.2
-
29
-
-
0025125468
-
Worldwide survey of F508 mutation
-
Tsui, L.C. 1990. Worldwide survey of F508 mutation. Am. J. Hum. Genet. 47:354-359.
-
(1990)
Am. J. Hum. Genet.
, vol.47
, pp. 354-359
-
-
Tsui, L.C.1
-
30
-
-
0027034365
-
Mutations and sequence variations detected in the cystic fibrosis transmem-brane conductance regulator (CFTR) gene: A report from the Cystic Fibrosis Genetic Consortium
-
Tsui, L.C. 1992. Mutations and sequence variations detected in the cystic fibrosis transmem-brane conductance regulator (CFTR) gene: A report from the Cystic Fibrosis Genetic Consortium. Hum. Mutat. 1:197-203.
-
(1992)
Hum. Mutat.
, vol.1
, pp. 197-203
-
-
Tsui, L.C.1
-
31
-
-
0025181586
-
Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program
-
Waters, D.L., S.F. Dorney, K.J. Gaskin et al. 1990. Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program. New Engl. J. Med. 322:303-308.
-
(1990)
New Engl. J. Med.
, vol.322
, pp. 303-308
-
-
Waters, D.L.1
Dorney, S.F.2
Gaskin, K.J.3
-
32
-
-
0026849872
-
No CFTR: Are CF symptoms milder?
-
Wine, J.J. 1992. No CFTR: Are CF symptoms milder? Natur. Genet. 1:10.
-
(1992)
Natur. Genet.
, vol.1
, pp. 10
-
-
Wine, J.J.1
|