-
1
-
-
0018769118
-
Dried-blood spot screening for cystic fibrosis in the newborn
-
Crossley J.R., Elliott R.B., and Smith P.A. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1 (1979) 472-474
-
(1979)
Lancet
, vol.1
, pp. 472-474
-
-
Crossley, J.R.1
Elliott, R.B.2
Smith, P.A.3
-
2
-
-
0029121023
-
Longitudinal evaluation of serum trypsinogen measurement in pancreatic-insufficient and pancreatic-sufficient patients with cystic fibrosis
-
Couper R.T., Corey M., Durie P.R., Forstner G.G., and Moore D.J. Longitudinal evaluation of serum trypsinogen measurement in pancreatic-insufficient and pancreatic-sufficient patients with cystic fibrosis. J Pediatr 127 (1995) 408-413
-
(1995)
J Pediatr
, vol.127
, pp. 408-413
-
-
Couper, R.T.1
Corey, M.2
Durie, P.R.3
Forstner, G.G.4
Moore, D.J.5
-
3
-
-
0025936890
-
Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations
-
Hammond K.B., Abman S.H., Sokol R.J., and Accurso F.J. Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N Engl J Med 325 (1991) 769-774
-
(1991)
N Engl J Med
, vol.325
, pp. 769-774
-
-
Hammond, K.B.1
Abman, S.H.2
Sokol, R.J.3
Accurso, F.J.4
-
4
-
-
25844520151
-
Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes
-
Sontag M.K., Hammond K.B., Zielenski J., Wagener J.S., and Accurso F.J. Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes. J Pediatr 147 (2005) S83-S88
-
(2005)
J Pediatr
, vol.147
-
-
Sontag, M.K.1
Hammond, K.B.2
Zielenski, J.3
Wagener, J.S.4
Accurso, F.J.5
-
5
-
-
70349555987
-
2000 CDC Growth Charts for the United States: methods and development
-
Kuczmarski R.J., Ogden C.L., Guo S.S., Grummer-Strawn L.M., Flegal K.M., Mei Z., et al. 2000 CDC Growth Charts for the United States: methods and development. Vital Health Stat 11 (2002) 1-190
-
(2002)
Vital Health Stat
, vol.11
, pp. 1-190
-
-
Kuczmarski, R.J.1
Ogden, C.L.2
Guo, S.S.3
Grummer-Strawn, L.M.4
Flegal, K.M.5
Mei, Z.6
-
6
-
-
0033510667
-
Prospective, long-term study of fat-soluble vitamin status in children with cystic fibrosis identified by newborn screen
-
Feranchak A.P., Sontag M.K., Wagener J.S., Hammond K.B., Accurso F.J., and Sokol R.J. Prospective, long-term study of fat-soluble vitamin status in children with cystic fibrosis identified by newborn screen. J Pediatr 135 (1999) 601-610
-
(1999)
J Pediatr
, vol.135
, pp. 601-610
-
-
Feranchak, A.P.1
Sontag, M.K.2
Wagener, J.S.3
Hammond, K.B.4
Accurso, F.J.5
Sokol, R.J.6
-
7
-
-
0034036849
-
Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: evidence that the scanning conditions are generic
-
746-3
-
Buzin C.H., Wen C.Y., Nguyen V.Q., Nozari G., Mengos A., Li X., et al. Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: evidence that the scanning conditions are generic. Biotechniques 28 (2000) 746-3
-
(2000)
Biotechniques
, vol.28
-
-
Buzin, C.H.1
Wen, C.Y.2
Nguyen, V.Q.3
Nozari, G.4
Mengos, A.5
Li, X.6
-
8
-
-
25444506869
-
Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers
-
Cohn J.A., Neoptolemos J.P., Feng J., Yan J., Jiang Z., Greenhalf W., et al. Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers. Hum Mutat 26 (2005) 303-307
-
(2005)
Hum Mutat
, vol.26
, pp. 303-307
-
-
Cohn, J.A.1
Neoptolemos, J.P.2
Feng, J.3
Yan, J.4
Jiang, Z.5
Greenhalf, W.6
-
9
-
-
0026600469
-
Pancreatic insufficiency, growth, and nutrition in infants identified by newborn screening as having cystic fibrosis
-
Bronstein M.N., Sokol R.J., Abman S.H., Chatfield B.A., Hammond K.B., Hambidge K.M., et al. Pancreatic insufficiency, growth, and nutrition in infants identified by newborn screening as having cystic fibrosis. J Pediatr 120 (1992) 533-540
-
(1992)
J Pediatr
, vol.120
, pp. 533-540
-
-
Bronstein, M.N.1
Sokol, R.J.2
Abman, S.H.3
Chatfield, B.A.4
Hammond, K.B.5
Hambidge, K.M.6
-
11
-
-
0014795478
-
Determination of fecal fats containing both medium and long chain triglycerides and fatty acids
-
Jeejeebhoy K.N., Ahmad S., and Kozak G. Determination of fecal fats containing both medium and long chain triglycerides and fatty acids. Clin Biochem 3 (1970) 157-163
-
(1970)
Clin Biochem
, vol.3
, pp. 157-163
-
-
Jeejeebhoy, K.N.1
Ahmad, S.2
Kozak, G.3
-
12
-
-
0026734588
-
Genetic determination of exocrine pancreatic function in cystic fibrosis
-
Kristidis P., Bozon D., Corey M., Markiewicz D., Rommens J., Tsui L.C., et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 50 (1992) 1178-1184
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1178-1184
-
-
Kristidis, P.1
Bozon, D.2
Corey, M.3
Markiewicz, D.4
Rommens, J.5
Tsui, L.C.6
-
13
-
-
0026641782
-
The spectrum of cystic fibrosis mutations
-
Tsui L.C. The spectrum of cystic fibrosis mutations. Trends Genet 8 (1992) 392-398
-
(1992)
Trends Genet
, vol.8
, pp. 392-398
-
-
Tsui, L.C.1
-
14
-
-
0001025775
-
Analysis of left-censored longitudinal data with application to viral load in HIV infection
-
Jacqmin-Gadda H., Thiebaut R., Chene G., and Commenges D. Analysis of left-censored longitudinal data with application to viral load in HIV infection. Biostatistics 1 (2000) 355-368
-
(2000)
Biostatistics
, vol.1
, pp. 355-368
-
-
Jacqmin-Gadda, H.1
Thiebaut, R.2
Chene, G.3
Commenges, D.4
-
15
-
-
0242668291
-
Bivariate longitudinal model for the analysis of the evolution of HIV RNA and CD4 cell count in HIV infection taking into account left censoring of HIV RNA measures
-
Thiebaut R., Jacqmin-Gadda H., Leport C., Katlama C., Costagliola D., Le Moing V., et al. Bivariate longitudinal model for the analysis of the evolution of HIV RNA and CD4 cell count in HIV infection taking into account left censoring of HIV RNA measures. J Biopharm Stat 13 (2003) 271-282
-
(2003)
J Biopharm Stat
, vol.13
, pp. 271-282
-
-
Thiebaut, R.1
Jacqmin-Gadda, H.2
Leport, C.3
Katlama, C.4
Costagliola, D.5
Le Moing, V.6
-
16
-
-
0027302429
-
Immunoreactive trypsinogen levels in infants with cystic fibrosis complicated by meconium ileus
-
Rusakow L.S., Abman S.H., Sokol R.J., Seltzer W.K., Hammond K.B., and Accurso F.J. Immunoreactive trypsinogen levels in infants with cystic fibrosis complicated by meconium ileus. Screening 2 (1993) 13-17
-
(1993)
Screening
, vol.2
, pp. 13-17
-
-
Rusakow, L.S.1
Abman, S.H.2
Sokol, R.J.3
Seltzer, W.K.4
Hammond, K.B.5
Accurso, F.J.6
-
17
-
-
0022593278
-
Serum immunoreactive pancreatic lipase and cationic trypsinogen for the assessment of exocrine pancreatic function in older patients with cystic fibrosis
-
Cleghorn G., Benjamin L., Corey M., Forstner G., Dati F., and Durie P. Serum immunoreactive pancreatic lipase and cationic trypsinogen for the assessment of exocrine pancreatic function in older patients with cystic fibrosis. Pediatrics 77 (1986) 301-306
-
(1986)
Pediatrics
, vol.77
, pp. 301-306
-
-
Cleghorn, G.1
Benjamin, L.2
Corey, M.3
Forstner, G.4
Dati, F.5
Durie, P.6
-
18
-
-
0019443147
-
Plasma immunoreactive pancreatic cationic trypsinogen in cystic fibrosis: a sensitive indicator of exocrine pancreatic dysfunction
-
Durie P.R., Largman C., Brodrick J.W., Johnson J.H., Gaskin K.J., Forstner G.G., et al. Plasma immunoreactive pancreatic cationic trypsinogen in cystic fibrosis: a sensitive indicator of exocrine pancreatic dysfunction. Pediatr Res 15 (1981) 1351-1355
-
(1981)
Pediatr Res
, vol.15
, pp. 1351-1355
-
-
Durie, P.R.1
Largman, C.2
Brodrick, J.W.3
Johnson, J.H.4
Gaskin, K.J.5
Forstner, G.G.6
-
19
-
-
0030041336
-
Dehydration deaths in infants and young children
-
Whitehead F.J., Couper R.T., Moore L., Bourne A.J., and Byard R.W. Dehydration deaths in infants and young children. Am J Forensic Med Pathol 17 (1996) 73-78
-
(1996)
Am J Forensic Med Pathol
, vol.17
, pp. 73-78
-
-
Whitehead, F.J.1
Couper, R.T.2
Moore, L.3
Bourne, A.J.4
Byard, R.W.5
-
20
-
-
0025181586
-
Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program [see comments]
-
Waters D.L., Dorney S.F., Gaskin K.J., Gruca M.A., O'Halloran M., and Wilcken B. Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program [see comments]. N Engl J Med 322 (1990) 303-308
-
(1990)
N Engl J Med
, vol.322
, pp. 303-308
-
-
Waters, D.L.1
Dorney, S.F.2
Gaskin, K.J.3
Gruca, M.A.4
O'Halloran, M.5
Wilcken, B.6
-
21
-
-
0033086408
-
The gender gap in cystic fibrosis survival
-
Davis P.B. The gender gap in cystic fibrosis survival. J Gend Specif Med 2 (1999) 47-51
-
(1999)
J Gend Specif Med
, vol.2
, pp. 47-51
-
-
Davis, P.B.1
-
22
-
-
0028860909
-
Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations
-
Wilschanski M., Zielenski J., Markiewicz D., Tsui L.C., Corey M., Levison H., et al. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J Pediatr 127 (1995) 705-710
-
(1995)
J Pediatr
, vol.127
, pp. 705-710
-
-
Wilschanski, M.1
Zielenski, J.2
Markiewicz, D.3
Tsui, L.C.4
Corey, M.5
Levison, H.6
-
23
-
-
0020411169
-
Plasma immunoreactive anionic pancreatic trypsin in cystic fibrosis
-
Durie P.R., Gaskin K.J., Geokas M.C., O'Rourke M., and Largman C. Plasma immunoreactive anionic pancreatic trypsin in cystic fibrosis. J Pediatr Gastroenterol Nutr 1 (1982) 337-343
-
(1982)
J Pediatr Gastroenterol Nutr
, vol.1
, pp. 337-343
-
-
Durie, P.R.1
Gaskin, K.J.2
Geokas, M.C.3
O'Rourke, M.4
Largman, C.5
-
24
-
-
24644464284
-
Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening
-
Pedemonte N., Lukacs G.L., Du K., Caci E., Zegarra-Moran O., Galietta L.J., et al. Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening. J Clin Invest 115 (2005) 2564-2571
-
(2005)
J Clin Invest
, vol.115
, pp. 2564-2571
-
-
Pedemonte, N.1
Lukacs, G.L.2
Du, K.3
Caci, E.4
Zegarra-Moran, O.5
Galietta, L.J.6
-
25
-
-
29544440095
-
Sulfamoyl-4-oxoquinoline-3-carboxamides: novel potentiators of defective DeltaF508-cystic fibrosis transmembrane conductance regulator chloride channel gating
-
Suen Y.F., Robins L., Yang B., Verkman A.S., Nantz M.H., and Kurth M.J. Sulfamoyl-4-oxoquinoline-3-carboxamides: novel potentiators of defective DeltaF508-cystic fibrosis transmembrane conductance regulator chloride channel gating. Bioorg Med Chem Lett 16 (2006) 537-540
-
(2006)
Bioorg Med Chem Lett
, vol.16
, pp. 537-540
-
-
Suen, Y.F.1
Robins, L.2
Yang, B.3
Verkman, A.S.4
Nantz, M.H.5
Kurth, M.J.6
-
26
-
-
0024380547
-
Familial concordance of pancreatic function in cystic fibrosis
-
Corey M., Durie P., Moore D., Forstner G., and Levison H. Familial concordance of pancreatic function in cystic fibrosis. J Pediatr 115 (1989) 274-277
-
(1989)
J Pediatr
, vol.115
, pp. 274-277
-
-
Corey, M.1
Durie, P.2
Moore, D.3
Forstner, G.4
Levison, H.5
-
27
-
-
0024423668
-
Identification of the cystic fibrosis gene: genetic analysis
-
Kerem B., Rommens J.M., Buchanan J.A., Markiewicz D., Cox T.K., Chakravarti A., et al. Identification of the cystic fibrosis gene: genetic analysis. Science 245 (1989) 1073-1080
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
Chakravarti, A.6
-
28
-
-
0025155352
-
Pancreatic function and gene deletion F508 in cystic fibrosis
-
Borgo G., Mastella G., Gasparini P., Zorzanello A., Doro R., and Pignatti P.F. Pancreatic function and gene deletion F508 in cystic fibrosis. J Med Genet 27 (1990) 665-669
-
(1990)
J Med Genet
, vol.27
, pp. 665-669
-
-
Borgo, G.1
Mastella, G.2
Gasparini, P.3
Zorzanello, A.4
Doro, R.5
Pignatti, P.F.6
-
29
-
-
0026780377
-
Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations
-
Liechti-Gallati S., Bonsall I., Malik N., Schneider V., Kraemer L.G., Ruedeberg A., et al. Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations. Pediatr Res 32 (1992) 175-178
-
(1992)
Pediatr Res
, vol.32
, pp. 175-178
-
-
Liechti-Gallati, S.1
Bonsall, I.2
Malik, N.3
Schneider, V.4
Kraemer, L.G.5
Ruedeberg, A.6
-
30
-
-
16944365648
-
Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis
-
Highsmith Jr. W.E., Burch L.H., Zhou Z., Olsen J.C., Strong T.V., Smith T., et al. Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis. Hum Mutat 9 (1997) 332-338
-
(1997)
Hum Mutat
, vol.9
, pp. 332-338
-
-
Highsmith Jr., W.E.1
Burch, L.H.2
Zhou, Z.3
Olsen, J.C.4
Strong, T.V.5
Smith, T.6
-
31
-
-
19244362098
-
Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation
-
Vazquez C., Antinolo G., Casals T., Dapena J., Elorz J., Seculi J.L., et al. Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation. J Med Genet 33 (1996) 820-822
-
(1996)
J Med Genet
, vol.33
, pp. 820-822
-
-
Vazquez, C.1
Antinolo, G.2
Casals, T.3
Dapena, J.4
Elorz, J.5
Seculi, J.L.6
-
32
-
-
0028000244
-
Molecular and clinical analyses of cystic fibrosis in the south of Spain
-
Borrego S., Casals T., Dapena J., Fernandez E., Gimenez J., Cabeza J.C., et al. Molecular and clinical analyses of cystic fibrosis in the south of Spain. Clin Genet 46 (1994) 287-290
-
(1994)
Clin Genet
, vol.46
, pp. 287-290
-
-
Borrego, S.1
Casals, T.2
Dapena, J.3
Fernandez, E.4
Gimenez, J.5
Cabeza, J.C.6
-
33
-
-
0034006015
-
[Turkish infant with hypoelectrolytemia and metabolic alkalosis as the sole manifestations of a mild form of cystic fibrosis (mutation D110H)]
-
Weller F., Wiebicke W., and Tummler B. [Turkish infant with hypoelectrolytemia and metabolic alkalosis as the sole manifestations of a mild form of cystic fibrosis (mutation D110H)]. Klin Padiatr 212 (2000) 41-43
-
(2000)
Klin Padiatr
, vol.212
, pp. 41-43
-
-
Weller, F.1
Wiebicke, W.2
Tummler, B.3
-
34
-
-
0027163176
-
Congenital bilateral absence of the vas deferens and cystic fibrosis. A genetic commonality
-
Oates R.D., and Amos J.A. Congenital bilateral absence of the vas deferens and cystic fibrosis. A genetic commonality. World J Urol 11 (1993) 82-88
-
(1993)
World J Urol
, vol.11
, pp. 82-88
-
-
Oates, R.D.1
Amos, J.A.2
-
35
-
-
0028956674
-
Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings
-
Orozco L., Lezana J.L., Villarreal M.T., Chavez M., and Carnevale A. Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings. Clin Genet 47 (1995) 96-98
-
(1995)
Clin Genet
, vol.47
, pp. 96-98
-
-
Orozco, L.1
Lezana, J.L.2
Villarreal, M.T.3
Chavez, M.4
Carnevale, A.5
-
36
-
-
0027431921
-
Genotype analysis of adult cystic fibrosis patients
-
Ferec C., Verlingue C., Guillermit H., Quere I., Raguenes O., Feigelson J., et al. Genotype analysis of adult cystic fibrosis patients. Hum Mol Genet 2 (1993) 1557-1560
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1557-1560
-
-
Ferec, C.1
Verlingue, C.2
Guillermit, H.3
Quere, I.4
Raguenes, O.5
Feigelson, J.6
-
37
-
-
33751088500
-
-
Cystic Fibrosis Mutation Database [updated 7-13-2005]. Cystic Fibrosis Mutation Consortium. Available online at: http://www.genet.sickkids.on.ca/cftr/.
-
-
-
-
38
-
-
0032788968
-
Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations
-
Castaldo G., Fuccio A., Cazeneuve C., Picci L., Salvatore D., Raia V., et al. Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. Clin Chem 45 (1999) 957-962
-
(1999)
Clin Chem
, vol.45
, pp. 957-962
-
-
Castaldo, G.1
Fuccio, A.2
Cazeneuve, C.3
Picci, L.4
Salvatore, D.5
Raia, V.6
-
39
-
-
0026508385
-
A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene
-
Ronchetto P., Telleria Orriols J.J., Fanen P., Cremonesi L., Ferrari M., Magnani C., et al. A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene. Genomics 12 (1992) 417-418
-
(1992)
Genomics
, vol.12
, pp. 417-418
-
-
Ronchetto, P.1
Telleria Orriols, J.J.2
Fanen, P.3
Cremonesi, L.4
Ferrari, M.5
Magnani, C.6
-
40
-
-
0028013684
-
394delTT: a Nordic cystic fibrosis mutation
-
Schwartz M., Anvret M., Claustres M., Eiken H.G., Eiklid K., Schaedel C., et al. 394delTT: a Nordic cystic fibrosis mutation. Hum Genet 93 (1994) 157-161
-
(1994)
Hum Genet
, vol.93
, pp. 157-161
-
-
Schwartz, M.1
Anvret, M.2
Claustres, M.3
Eiken, H.G.4
Eiklid, K.5
Schaedel, C.6
-
41
-
-
0033800152
-
A novel CFTR frame-shift mutation, 935delA, in two Hispanic cystic fibrosis patients
-
Wang J., Bowman C.M., and Wong L.J. A novel CFTR frame-shift mutation, 935delA, in two Hispanic cystic fibrosis patients. Mol Genet Metab 70 (2000) 316-321
-
(2000)
Mol Genet Metab
, vol.70
, pp. 316-321
-
-
Wang, J.1
Bowman, C.M.2
Wong, L.J.3
-
42
-
-
0026541793
-
A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients
-
Dork T., Kalin N., Stuhrmann M., Schmidtke J., and Tummler B. A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. Hum Genet 90 (1992) 279-284
-
(1992)
Hum Genet
, vol.90
, pp. 279-284
-
-
Dork, T.1
Kalin, N.2
Stuhrmann, M.3
Schmidtke, J.4
Tummler, B.5
-
43
-
-
0025909386
-
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Zielenski J., Bozon D., Kerem B., Markiewicz D., Durie P., Rommens J.M., et al. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10 (1991) 229-235
-
(1991)
Genomics
, vol.10
, pp. 229-235
-
-
Zielenski, J.1
Bozon, D.2
Kerem, B.3
Markiewicz, D.4
Durie, P.5
Rommens, J.M.6
-
44
-
-
0028265203
-
Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21
-
Shoshani T., Augarten A., Yahav J., Gazit E., and Kerem B. Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21. Hum Mol Genet 3 (1994) 657-658
-
(1994)
Hum Mol Genet
, vol.3
, pp. 657-658
-
-
Shoshani, T.1
Augarten, A.2
Yahav, J.3
Gazit, E.4
Kerem, B.5
-
45
-
-
0029775114
-
Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test
-
Romey M.C., Tuffery S., Desgeorges M., Bienvenu T., Demaille J., and Claustres M. Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test. Hum Genet 98 (1996) 328-332
-
(1996)
Hum Genet
, vol.98
, pp. 328-332
-
-
Romey, M.C.1
Tuffery, S.2
Desgeorges, M.3
Bienvenu, T.4
Demaille, J.5
Claustres, M.6
-
46
-
-
0034816370
-
Improved detection of CFTR mutations in Southern California Hispanic CF patients
-
Wong L.J., Wang J., Zhang Y.H., Hsu E., Heim R.A., Bowman C.M., et al. Improved detection of CFTR mutations in Southern California Hispanic CF patients. Hum Mutat 18 (2001) 296-307
-
(2001)
Hum Mutat
, vol.18
, pp. 296-307
-
-
Wong, L.J.1
Wang, J.2
Zhang, Y.H.3
Hsu, E.4
Heim, R.A.5
Bowman, C.M.6
-
47
-
-
0042322854
-
1154insTC is not a rare CFTR mutation
-
Alper O.M., Wong L.J., Hostetter G., Cook J., Tenenholz B., Hsu E., et al. 1154insTC is not a rare CFTR mutation. Am J Med Genet A 120 (2003) 294-295
-
(2003)
Am J Med Genet A
, vol.120
, pp. 294-295
-
-
Alper, O.M.1
Wong, L.J.2
Hostetter, G.3
Cook, J.4
Tenenholz, B.5
Hsu, E.6
-
48
-
-
0035726563
-
Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency
-
Walkowiak J., Herzig K.H., Witt M., Pogorzelski A., Piotrowski R., Barra E., et al. Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency. Eur J Clin Invest 31 (2001) 796-801
-
(2001)
Eur J Clin Invest
, vol.31
, pp. 796-801
-
-
Walkowiak, J.1
Herzig, K.H.2
Witt, M.3
Pogorzelski, A.4
Piotrowski, R.5
Barra, E.6
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