-
1
-
-
0032480253
-
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis
-
Sharer N, Schwarz M, Malone G, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339:645-52.
-
(1998)
N Engl J Med
, vol.339
, pp. 645-652
-
-
Sharer, N.1
Schwarz, M.2
Malone, G.3
-
2
-
-
78650477795
-
Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis
-
Ooi CY, Dorfman R, Cipolli M, et al. Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis. Gastroenterology 2011;140:153-61.
-
(2011)
Gastroenterology
, vol.140
, pp. 153-161
-
-
Ooi, C.Y.1
Dorfman, R.2
Cipolli, M.3
-
3
-
-
30744444177
-
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis
-
Bishop MD, Freedman SD, Zielenski J, et al. The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Hum Genet 2005;118:372-81.
-
(2005)
Hum Genet
, vol.118
, pp. 372-381
-
-
Bishop, M.D.1
Freedman, S.D.2
Zielenski, J.3
-
4
-
-
12644300645
-
CFTR gene mutations in adults with disseminated bronchiectasis
-
Girodon E, Cazeneuve C, Lebargy F, et al. CFTR gene mutations in adults with disseminated bronchiectasis. Eur J Hum Genet 1997;5:149-55.
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 149-155
-
-
Girodon, E.1
Cazeneuve, C.2
Lebargy, F.3
-
5
-
-
0029019461
-
Cystic fibrosis transmembrane regulator and obstructive azoospermia
-
Jarvi K, Zielenski J, Wilschanski M, et al. Cystic fibrosis transmembrane regulator and obstructive azoospermia. Lancet 1995;345:1578.
-
(1995)
Lancet
, vol.345
, pp. 1578
-
-
Jarvi, K.1
Zielenski, J.2
Wilschanski, M.3
-
6
-
-
33749446633
-
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials
-
Wilschanski M, Dupuis A, Ellis L, et al. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Resp Crit Care Med 2006;174:787-94.
-
(2006)
Am J Resp Crit Care Med
, vol.174
, pp. 787-794
-
-
Wilschanski, M.1
Dupuis, A.2
Ellis, L.3
-
7
-
-
47049115524
-
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation Consensus Report
-
Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation Consensus Report. J Pediatr 2008;153:S4-14.
-
(2008)
J Pediatr
, vol.153
-
-
Farrell, P.M.1
Rosenstein, B.J.2
White, T.B.3
-
8
-
-
33745809841
-
Cystic fibrosis: Terminology and diagnostic algorithms
-
De Boeck K, Wilschanski M, Castellani C, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61:627-35.
-
(2006)
Thorax
, vol.61
, pp. 627-635
-
-
De Boeck, K.1
Wilschanski, M.2
Castellani, C.3
-
9
-
-
4644361735
-
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
-
Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004;6:387-91.
-
Genet Med
, vol.2004
, Issue.6
, pp. 387-391
-
-
Watson, M.S.1
Cutting, G.R.2
Desnick, R.J.3
-
10
-
-
68049096166
-
Phenotypic characterization of patients with intermediate sweat chloride values: Towards validation of the European diagnostic algorithm for cystic fibrosis
-
Goubau C, Wilschanski M, Skalická V, et al. Phenotypic characterization of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax 2009;64:683-91.
-
(2009)
Thorax
, vol.64
, pp. 683-691
-
-
Goubau, C.1
Wilschanski, M.2
Skalická, V.3
-
11
-
-
84862770787
-
Role of cystic fibrosis transmembrane conductance regulator (CFTR) in patients with chronic sinopulmonary disease
-
Published Online First: 15 Mar doi:10.1378/chest.11-2543
-
Gonska T, Choi P, Stephenson A, et al. Role of cystic fibrosis transmembrane conductance regulator (CFTR) in patients with chronic sinopulmonary disease. Chest. Published Online First: 15 Mar 2012. doi:10.1378/chest.11-2543.
-
(2012)
Chest
-
-
Gonska, T.1
Choi, P.2
Stephenson, A.3
-
12
-
-
9244225677
-
A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis
-
Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 1959;23:545-9.
-
(1959)
Pediatrics
, vol.23
, pp. 545-549
-
-
Gibson, L.E.1
Cooke, R.E.2
-
13
-
-
0028117173
-
Clinical evaluation of the Macroduct sweat collection system and conductivity analyzer in the diagnosis of cystic fibrosis
-
Hammond KB, Turcios NL, Gibson LE. Clinical evaluation of the Macroduct sweat collection system and conductivity analyzer in the diagnosis of cystic fibrosis. J Pediatr 1994;124:255-60.
-
(1994)
J Pediatr
, vol.124
, pp. 255-260
-
-
Hammond, K.B.1
Turcios, N.L.2
Gibson, L.E.3
-
14
-
-
0028991826
-
In vivo nasal potential difference: Techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis
-
Knowles MR, Paradiso AM, Boucher RC. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther 1995;6:445-55.
-
(1995)
Hum Gene Ther
, vol.6
, pp. 445-455
-
-
Knowles, M.R.1
Paradiso, A.M.2
Boucher, R.C.3
-
15
-
-
0036360074
-
CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel
-
Zielenski J, Aznarez I, Onay T, et al. CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel. Methods Mol Med 2002;70:3-19.
-
(2002)
Methods Mol Med
, vol.70
, pp. 3-19
-
-
Zielenski, J.1
Aznarez, I.2
Onay, T.3
-
16
-
-
33646068392
-
Gross genomic rearrangements involving Deletions in the CFTR gene: Characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
-
Ferec C, Casals T, Chuzhanova N, et al. Gross genomic rearrangements involving Deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 2006;14:567-76.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 567-576
-
-
Ferec, C.1
Casals, T.2
Chuzhanova, N.3
-
17
-
-
1842665159
-
Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms
-
Audrezet MP, Chen JM, Raguenes O, et al. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004;23:343-57.
-
(2004)
Hum Mutat
, vol.23
, pp. 343-357
-
-
Audrezet, M.P.1
Chen, J.M.2
Raguenes, O.3
-
18
-
-
43549114493
-
Consensus on the use and clinical interpretation of cystic fibrosis mutation analysis in clinical practice
-
Castellani C, Cuppens H, Macek M Jr, et al. Consensus on the use and clinical interpretation of cystic fibrosis mutation analysis in clinical practice. J Cystic Fibrosis 2008;7:179-96.
-
(2008)
J Cystic Fibrosis
, vol.7
, pp. 179-196
-
-
Castellani, C.1
Cuppens, H.2
Macek Jr., M.3
-
19
-
-
0017360990
-
The measurement of observer agreement for categorical data
-
Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics 1977;33:159-74.
-
(1977)
Biometrics
, vol.33
, pp. 159-174
-
-
Landis, J.R.1
Koch, G.G.2
-
20
-
-
56049107062
-
Diagnosis of cystic fibrosis by sweat testing: Age-specific reference intervals
-
Mishra A, Greaves R, Smith K, et al. Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals. J Pediatr 2008;153:758-63.
-
(2008)
J Pediatr
, vol.153
, pp. 758-763
-
-
Mishra, A.1
Greaves, R.2
Smith, K.3
-
21
-
-
77953255282
-
Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis
-
Bienvenu T, Sermet-Gaudelus I, Burgel PR, et al. Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis. Am J Respir Crit Care Med 2010;181:1078-84.
-
(2010)
Am J Respir Crit Care Med
, vol.181
, pp. 1078-1084
-
-
Bienvenu, T.1
Sermet-Gaudelus, I.2
Burgel, P.R.3
-
22
-
-
84873070931
-
-
Baltimore: John Hopkins University accessed 5 Apr 2012
-
Clinical and Functional Translation of CFTR. Baltimore: John Hopkins University. http://www.cftr2.com (accessed 5 Apr 2012).
-
Clinical and Functional Translation of CFTR
-
-
-
23
-
-
33646540731
-
Cystic fibrosis transmembrane conductance regulator function is suppressed in cigarette smokers
-
Cantin AM, Hanrahan JW, Bilodeau, et al. Cystic fibrosis transmembrane conductance regulator function is suppressed in cigarette smokers. Am J Respir Crit Care Med 2006;173:1139-44.
-
(2006)
Am J Respir Crit Care Med
, vol.173
, pp. 1139-1144
-
-
Cantin, A.M.1
Hanrahan, J.W.2
Bilodeau3
-
24
-
-
77956103863
-
Measurement of airway ion transport assists the diagnosis of cystic fibrosis
-
Middleton PG, House HH. Measurement of airway ion transport assists the diagnosis of cystic fibrosis. Pediatr Pulmonol 2010;45:789-95.
-
(2010)
Pediatr Pulmonol
, vol.45
, pp. 789-795
-
-
Middleton, P.G.1
House, H.H.2
-
25
-
-
0025772974
-
Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis
-
Veeze HJ, Sinaasappel M, Bijman J, et al. Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis. Gastroenterology 1991;101:398-403.
-
(1991)
Gastroenterology
, vol.101
, pp. 398-403
-
-
Veeze, H.J.1
Sinaasappel, M.2
Bijman, J.3
-
26
-
-
79958122789
-
Recommendations for the classification of diseases as CFTR-related disorders
-
Bombieri C, Claustres M, De Boeck K, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011;10(Suppl 2):S86-102.
-
(2011)
J Cyst Fibros
, vol.10
, Issue.SUPPL. 2
-
-
Bombieri, C.1
Claustres, M.2
De Boeck, K.3
-
27
-
-
1642493936
-
Airway inflammation and infection in congenital bilateral absence of the vas deferens
-
Gilljam M, Moltyaner Y, Downey GP, et al. Airway inflammation and infection in congenital bilateral absence of the vas deferens. Am J Respir Crit Care Med 2004;169:174-9.
-
(2004)
Am J Respir Crit Care Med
, vol.169
, pp. 174-179
-
-
Gilljam, M.1
Moltyaner, Y.2
Downey, G.P.3
-
28
-
-
6344231597
-
Clinical manifestations of cystic fibrosis among patients diagnosed in adulthood
-
Gilljam K, Ellis L, Corey M, et al. Clinical manifestations of cystic fibrosis among patients diagnosed in adulthood. Chest 2004;126:1215-24.
-
(2004)
Chest
, vol.126
, pp. 1215-1224
-
-
Gilljam, K.1
Ellis, L.2
Corey, M.3
-
29
-
-
77449133011
-
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond
-
Borowitz D, Parad R, Sharp JK, et al. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009;155:S106-16.
-
(2009)
J Pediatr
, vol.155
-
-
Borowitz, D.1
Parad, R.2
Sharp, J.K.3
-
30
-
-
67650713588
-
Does the Macroduct® collection system reliably define sweat chloride concentration in subjects with intermediate results?
-
Rose JB, Ellis J, John B, et al. Does the Macroduct® collection system reliably define sweat chloride concentration in subjects with intermediate results? Clin Biochem 2009;42:1260-4.
-
(2009)
Clin Biochem
, vol.42
, pp. 1260-1264
-
-
Rose, J.B.1
Ellis, J.2
John, B.3
-
31
-
-
0028117173
-
Clinical evaluation of the Macroduct sweat collection system and conductivity analyzer in the diagnosis of cystic fibrosis
-
Hammond KB, Nelson MS, Turcois L, et al. Clinical evaluation of the Macroduct sweat collection system and conductivity analyzer in the diagnosis of cystic fibrosis. J Pediatrics 1994;124:255-60.
-
(1994)
J Pediatrics
, vol.124
, pp. 255-260
-
-
Hammond, K.B.1
Nelson, M.S.2
Turcois, L.3
|