-
1
-
-
85119792701
-
-
Hamosh A, FitzSimmons SC, Macek M Jr, Knowles MR, Rosenstein BJ, Cutting GR. Comparison of the clinical manifestations of cystic fibrosis in African Americans and Caucasians. J Pediatr. In press.
-
-
-
-
2
-
-
0028940005
-
Functions of the cystic fibrosis transmembrane conductance regulator protein
-
RA. Frizzell Functions of the cystic fibrosis transmembrane conductance regulator protein Am J Respir Crit Care Med 151 1995 S54 S58
-
(1995)
Am J Respir Crit Care Med
, vol.151
, pp. S54-S58
-
-
Frizzell, RA.1
-
3
-
-
0028033069
-
Population variation of common cystic fibrosis mutations
-
The Cystic Fibrosis Genetic Analysis Consortium Population variation of common cystic fibrosis mutations Hum Mutat 4 1994 167 177
-
(1994)
Hum Mutat
, vol.4
, pp. 167-177
-
-
The Cystic Fibrosis Genetic Analysis Consortium1
-
4
-
-
85119811006
-
-
Cystic Fibrosis Foundation. Report of the 1995 Patient Registry. Bethesda, Maryland.
-
-
-
-
5
-
-
0003766976
-
Cystic fibrosis
-
MJ Welsh L-C Tsui TF Boat AL. Beaudet Cystic fibrosis 7th ed CR Scriver AL Beaudet WS Sly D Valle The metabolic and molecular basis of inherited disease. vol. 3 1995 McGraw-Hill New York 3799 3876
-
(1995)
, pp. 3799-3876
-
-
Welsh, MJ1
Tsui, L-C2
Boat, TF3
Beaudet, AL.4
-
7
-
-
0027278161
-
Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+10kb C→T mutation
-
A Augarten B-S Kerem Y Yahav S Noiman Y Rivlin A Tal Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+10kb C→T mutation Lancet 342 1993 25 26
-
(1993)
Lancet
, vol.342
, pp. 25-26
-
-
Augarten, A1
Kerem, B-S2
Yahav, Y3
Noiman, S4
Rivlin, Y5
Tal, A6
-
8
-
-
0025938893
-
Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels
-
TV Strong LS Smit SV Turpin JL Cole CT Hon D Markiewicz Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels N Engl J Med 325 1991 1630 1634
-
(1991)
N Engl J Med
, vol.325
, pp. 1630-1634
-
-
Strong, TV1
Smit, LS2
Turpin, SV3
Cole, JL4
Hon, CT5
Markiewicz, D6
-
9
-
-
0028086056
-
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
-
WE Highsmith LH Burch Z Zhou JC Olsen TE Boat A Spock A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations N Engl J Med 31 1994 974 980
-
(1994)
N Engl J Med
, vol.31
, pp. 974-980
-
-
Highsmith, WE1
Burch, LH2
Zhou, Z3
Olsen, JC4
Boat, TE5
Spock, A6
-
10
-
-
0029128156
-
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration
-
L GiovanBattista S Pitzalis R Podda M Zanda M Silvetti L Caocci A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration J Pediatr 127 1995 281 283
-
(1995)
J Pediatr
, vol.127
, pp. 281-283
-
-
GiovanBattista, L1
Pitzalis, S2
Podda, R3
Zanda, M4
Silvetti, M5
Caocci, L6
-
11
-
-
0016835773
-
Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes
-
H Shwachman E Lebenthal KT. Khaw Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes Pediatrics 55 1975 86 94
-
(1975)
Pediatrics
, vol.55
, pp. 86-94
-
-
Shwachman, H1
Lebenthal, E2
Khaw, KT.3
-
12
-
-
0026505294
-
Pancreatitis in young children with cystic fibrosis
-
AB Atlas SR Orenstein DM. Orenstein Pancreatitis in young children with cystic fibrosis J Pediatr 120 1992 756 759
-
(1992)
J Pediatr
, vol.120
, pp. 756-759
-
-
Atlas, AB1
Orenstein, SR2
Orenstein, DM.3
-
13
-
-
0017645620
-
Cystic fibrosis diagnosed after age 13: twenty-five teenage and adult patients including three asymptomatic men
-
RC Stern TF Boat CF Doershuk AS Tucker RB Miller LW. Matthews Cystic fibrosis diagnosed after age 13: twenty-five teenage and adult patients including three asymptomatic men Ann Intern Med 87 1997 188 191
-
(1997)
Ann Intern Med
, vol.87
, pp. 188-191
-
-
Stern, RC1
Boat, TF2
Doershuk, CF3
Tucker, AS4
Miller, RB5
Matthews, LW.6
-
14
-
-
0027512084
-
Cystic fibrosis presenting with sinus disease in children
-
BJ Wiatrak CM Meyer RT. Cotton Cystic fibrosis presenting with sinus disease in children Am J Dis Child 147 1993 258 260
-
(1993)
Am J Dis Child
, vol.147
, pp. 258-260
-
-
Wiatrak, BJ1
Meyer, CM2
Cotton, RT.3
-
15
-
-
0027438374
-
Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens
-
LR Osborne M Lynch PG Middleton EWFW Alton D Geddes JP Pryor Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens Hum Mol Genet 2 1993 1605 1609
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1605-1609
-
-
Osborne, LR1
Lynch, M2
Middleton, PG3
Alton, EWFW4
Geddes, D5
Pryor, JP6
-
17
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
M Chillon T Casals B Mercier L Bassas W Lissens S Silber Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens N Engl J Med 332 1995 1475 1480
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chillon, M1
Casals, T2
Mercier, B3
Bassas, L4
Lissens, W5
Silber, S6
-
19
-
-
0029558007
-
Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies
-
B Wilcken V Wiley G Sherry U. Bayliss Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies J Pediatr 127 1995 965 970
-
(1995)
J Pediatr
, vol.127
, pp. 965-970
-
-
Wilcken, B1
Wiley, V2
Sherry, G3
Bayliss, U.4
-
20
-
-
0025936890
-
Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations
-
KB Hammond SH Abman RJ Sokol FJ. Accurso 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, KB1
Abman, SH2
Sokol, RJ3
Accurso, FJ.4
-
21
-
-
0030028107
-
Prognostic implications of fetal echogenic bowel
-
RN Slotnick AZ. Abuhamad Prognostic implications of fetal echogenic bowel Lancet 347 1996 85 87
-
(1996)
Lancet
, vol.347
, pp. 85-87
-
-
Slotnick, RN1
Abuhamad, AZ.2
-
22
-
-
0030064794
-
Prenatal screening for cystic fibrosis: 5 years’ experience reviewed
-
DJH. Brock Prenatal screening for cystic fibrosis: 5 years’ experience reviewed Lancet 347 1996 148 150
-
(1996)
Lancet
, vol.347
, pp. 148-150
-
-
Brock, DJH.1
-
23
-
-
0008208571
-
Sweat testing: sample collection and quantitative analysis—approved guideline
-
National Committee for Clinical Laboratory Standards Sweat testing: sample collection and quantitative analysis—approved guideline [Document C34-A] 1994 The Committee Wayne (PA)
-
(1994)
-
-
National Committee for Clinical Laboratory Standards1
-
24
-
-
0014516177
-
Studies in cystic fibrosis: determination of sweat electrolytes in situ with direct reading electrodes
-
L Kopito H. Shwachman Studies in cystic fibrosis: determination of sweat electrolytes in situ with direct reading electrodes Pediatrics 43 1969 794 795
-
(1969)
Pediatrics
, vol.43
, pp. 794-795
-
-
Kopito, L1
Shwachman, H.2
-
25
-
-
0021685435
-
Evaluation of a paper-patch test for sweat chloride determination
-
WH Yeung J Palmer D Schidlow MR Bye NN. Huang Evaluation of a paper-patch test for sweat chloride determination Clin Pediatr 23 1984 603 607
-
(1984)
Clin Pediatr
, vol.23
, pp. 603-607
-
-
Yeung, WH1
Palmer, J2
Schidlow, D3
Bye, MR4
Huang, NN.5
-
26
-
-
0019144552
-
Cooperative study comparing three methods of performing sweat tests to diagnose cystic fibrosis
-
CR Denning NN Huang LR Cuasay H Shwachman P Tocci WJ Warwick Cooperative study comparing three methods of performing sweat tests to diagnose cystic fibrosis Pediatrics 66 1980 752 757
-
(1980)
Pediatrics
, vol.66
, pp. 752-757
-
-
Denning, CR1
Huang, NN2
Cuasay, LR3
Shwachman, H4
Tocci, P5
Warwick, WJ6
-
27
-
-
0030365197
-
Sweat testing for the diagnosis of cystic fibrosis: practical considerations
-
VA. LeGrys Sweat testing for the diagnosis of cystic fibrosis: practical considerations J Pediatr 129 1996 892 897
-
(1996)
J Pediatr
, vol.129
, pp. 892-897
-
-
LeGrys, VA.1
-
28
-
-
0029887951
-
Sweat chloride concentrations in infants homozygous or heterozygous for δF508 cystic fibrosis
-
508 cystic fibrosis Pediatrics 97 1996 524 528
-
(1996)
Pediatrics
, vol.97
, pp. 524-528
-
-
Farrell, PM1
Koscik, RE2
-
30
-
-
0024520487
-
Interpretation of sweat sodium results—the effect of patient age
-
JM Kirk A. Westwood Interpretation of sweat sodium results—the effect of patient age Ann Clin Biochem 26 1989 38 43
-
(1989)
Ann Clin Biochem
, vol.26
, pp. 38-43
-
-
Kirk, JM1
Westwood, A.2
-
31
-
-
0021955340
-
A study of sweat sodium and chloride: criteria for the diagnosis of cystic fibrosis
-
A Green P Dodds C. Pennock A study of sweat sodium and chloride: criteria for the diagnosis of cystic fibrosis Ann Clin Biochem 22 1985 171 176
-
(1985)
Ann Clin Biochem
, vol.22
, pp. 171-176
-
-
Green, A1
Dodds, P2
Pennock, C.3
-
32
-
-
0014561780
-
Micropuncture studies of the sweat formation in cystic fibrosis patients
-
IJ. Schulz Micropuncture studies of the sweat formation in cystic fibrosis patients J Clin Invest 48 1969 1470 1477
-
(1969)
J Clin Invest
, vol.48
, pp. 1470-1477
-
-
Schulz, IJ.1
-
33
-
-
0028910076
-
The cystic fibrosis transmembrane conductance regulator gene
-
L-C. Tsui The cystic fibrosis transmembrane conductance regulator gene Am J Respir Crit Care Med 151 1995 S47 S53
-
(1995)
Am J Respir Crit Care Med
, vol.151
, pp. S47-S53
-
-
Tsui, L-C.1
-
34
-
-
0027521663
-
A mutation in the cystic fibrosis transmembrane conductance regulator gene produces different phenotypes depending on chromosomal background
-
S Kiesewetter M Macek Jr C Davis SM Curristin C Chu C Graham A mutation in the cystic fibrosis transmembrane conductance regulator gene produces different phenotypes depending on chromosomal background Nat Genet 5 1993 274 278
-
(1993)
Nat Genet
, vol.5
, pp. 274-278
-
-
Kiesewetter, S1
Macek, M2
Davis, C3
Curristin, SM4
Chu, C5
Graham, C6
-
35
-
-
0028177981
-
δF508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population
-
508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population Pediatrics 93 1994 114 118
-
(1994)
Pediatrics
, vol.93
, pp. 114-118
-
-
Lester, LA1
Kraut, J2
Lloyd-Still, J3
-
37
-
-
0027998618
-
Human airway ion transport
-
RC. Boucher Human airway ion transport Am J Respir Crit Care Med 150 1994 271 281 581-93
-
(1994)
Am J Respir Crit Care Med
, vol.150
, pp. 271-281
-
-
Boucher, RC.1
-
38
-
-
0028991826
-
In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis
-
MR Knowles AM Paradiso RC. Boucher In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis Hum Gene Ther 6 1995 445 455
-
(1995)
Hum Gene Ther
, vol.6
, pp. 445-455
-
-
Knowles, MR1
Paradiso, AM2
Boucher, RC.3
-
39
-
-
0020596438
-
Relative ion permeability of normal and cystic fibrosis nasal epithelium
-
MR Knowles J Gatzy R. Boucher Relative ion permeability of normal and cystic fibrosis nasal epithelium J Clin Invest 71 1983 1410 1418
-
(1983)
J Clin Invest
, vol.71
, pp. 1410-1418
-
-
Knowles, MR1
Gatzy, J2
Boucher, R.3
-
41
-
-
0023641255
-
Clinical application of transepithelial potential difference measurements in cystic fibrosis
-
RA Sauder SE Chesrown GM. Loughlin Clinical application of transepithelial potential difference measurements in cystic fibrosis J Pediatr 111 1987 353 358
-
(1987)
J Pediatr
, vol.111
, pp. 353-358
-
-
Sauder, RA1
Chesrown, SE2
Loughlin, GM.3
-
43
-
-
21444437552
-
Pancreatic function tests
-
R. Couper Pancreatic function tests 2nd ed WA Walker PR Durie JR Hamilton JA Walker-Smith JG Watkins Pediatric gastrointestinal disease. Pathophysiology, diagnosis, management. 1995 Mosby St. Louis 1621 1634
-
(1995)
, pp. 1621-1634
-
-
Couper, R.1
-
44
-
-
0023719216
-
Impaired chloride secretion as well as bicarbonate secretion underlies the fluid secretory defect in the cystic fibrosis pancreas
-
HR Kopelman M Corey KJ Gaskin P Durie GG. Forstner Impaired chloride secretion as well as bicarbonate secretion underlies the fluid secretory defect in the cystic fibrosis pancreas Gastroenterology 95 1988 349 355
-
(1988)
Gastroenterology
, vol.95
, pp. 349-355
-
-
Kopelman, HR1
Corey, M2
Gaskin, KJ3
Durie, P4
Forstner, GG.5
-
45
-
-
0021369735
-
Colipase and lipase secretion in childhood-onset pancreatic insufficiency: delineation of patients with steatorrhea secondary to relative colipase deficiency
-
KJ Gaskin PR Durie L Lee R Hill GG. Forstner Colipase and lipase secretion in childhood-onset pancreatic insufficiency: delineation of patients with steatorrhea secondary to relative colipase deficiency Gastroenterology 86 1984 1 7
-
(1984)
Gastroenterology
, vol.86
, pp. 1-7
-
-
Gaskin, KJ1
Durie, PR2
Lee, L3
Hill, R4
Forstner, GG.5
-
46
-
-
0023409008
-
Cystic fibrosis: a review of pulmonary infections and interventions
-
MJ Thomassen CA Demko CF. Doershuk Cystic fibrosis: a review of pulmonary infections and interventions Pediatr Pulmonol 3 1987 334 351
-
(1987)
Pediatr Pulmonol
, vol.3
, pp. 334-351
-
-
Thomassen, MJ1
Demko, CA2
Doershuk, CF.3
-
47
-
-
0027395872
-
The changing epidemiology of cystic fibrosis
-
SC. FitzSimmons The changing epidemiology of cystic fibrosis J Pediatr 122 1993 1 9
-
(1993)
J Pediatr
, vol.122
, pp. 1-9
-
-
FitzSimmons, SC.1
-
49
-
-
0014241661
-
Infertility in male patients with cystic fibrosis
-
CR Denning SC Sommers HJ Quigley Jr. Infertility in male patients with cystic fibrosis Pediatrics 41 1968 7 17
-
(1968)
Pediatrics
, vol.41
, pp. 7-17
-
-
Denning, CR1
Sommers, SC2
Quigley, HJ3
-
50
-
-
0030071693
-
Cystic fibrosis 3849+10kb C→T mutation associated with severe pulmonary disease and male fertility
-
DH Dreyfus R Bethel EW Gelfand Cystic fibrosis 3849+10kb C→T mutation associated with severe pulmonary disease and male fertility Am J Respir Crit Care Med 153 1996 858 860
-
(1996)
Am J Respir Crit Care Med
, vol.153
, pp. 858-860
-
-
Dreyfus, DH1
Bethel, R2
Gelfand, EW3
-
51
-
-
0029782355
-
Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens
-
AA Colin SM Sawyer JE Mickle RD Oates A Milunsky JA. Amos Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens Chest 110 1996 440 445
-
(1996)
Chest
, vol.110
, pp. 440-445
-
-
Colin, AA1
Sawyer, SM2
Mickle, JE3
Oates, RD4
Milunsky, A5
Amos, JA.6
-
52
-
-
0025772974
-
Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis
-
HJ Veeze M Sinaasappel J Bijman J Bouquet HR. DeJonge Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis Gastroenterology 101 1991 398 403
-
(1991)
Gastroenterology
, vol.101
, pp. 398-403
-
-
Veeze, HJ1
Sinaasappel, M2
Bijman, J3
Bouquet, J4
DeJonge, HR.5
|