-
1
-
-
0035693855
-
Cystic fibrosis
-
Davis P.B. Cystic fibrosis. Pediatr. Rev. 22 (2001) 257-264
-
(2001)
Pediatr. Rev.
, vol.22
, pp. 257-264
-
-
Davis, P.B.1
-
2
-
-
0001752544
-
Cystic fibrosis
-
Scriver A., Sly W.S., and Valle D. (Eds), McGRAW-Hill, New York
-
Welsh M.J., Ramsay B.W., Accurso F., and Cutting G.R. Cystic fibrosis. In: Scriver A., Sly W.S., and Valle D. (Eds). The molecular and metabolic basis of inherited disease (2001), McGRAW-Hill, New York 5121-5188
-
(2001)
The molecular and metabolic basis of inherited disease
, pp. 5121-5188
-
-
Welsh, M.J.1
Ramsay, B.W.2
Accurso, F.3
Cutting, G.R.4
-
3
-
-
0347588949
-
Sweat electrolyte disturbances associated with childhood pancreatic disease
-
Di Sant'Agnese P.A., Darling R.C., Perera G.A., and Shea E. Sweat electrolyte disturbances associated with childhood pancreatic disease. Am. J. Med. 15 (1953) 777-783
-
(1953)
Am. J. Med.
, vol.15
, pp. 777-783
-
-
Di Sant'Agnese, P.A.1
Darling, R.C.2
Perera, G.A.3
Shea, E.4
-
4
-
-
43549114493
-
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
-
Castellani C., Cuppens H., Macek Jr. M., Cassiman J.J., Kerem E., Durie P., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J. Cyst. Fibros. 7 3 (2008, May) 179-196
-
(2008)
J. Cyst. Fibros.
, vol.7
, Issue.3
, pp. 179-196
-
-
Castellani, C.1
Cuppens, H.2
Macek Jr., M.3
Cassiman, J.J.4
Kerem, E.5
Durie, P.6
-
5
-
-
56049107062
-
Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals
-
Mishra A., Greaves R., Smith K., Carlin J.B., Wootton A., Stirling R., et al. Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals. J. Pediatr. (2008, Jun 25)
-
(2008)
J. Pediatr.
-
-
Mishra, A.1
Greaves, R.2
Smith, K.3
Carlin, J.B.4
Wootton, A.5
Stirling, R.6
-
6
-
-
33846519264
-
Guidelines for the performance of the sweat test for the diagnosis of cystic fibrosis
-
Green A., and Kirk J. Guidelines for the performance of the sweat test for the diagnosis of cystic fibrosis. Ann. Clin. Biochem. 44 (2007) 25-34
-
(2007)
Ann. Clin. Biochem.
, vol.44
, pp. 25-34
-
-
Green, A.1
Kirk, J.2
-
8
-
-
56049096328
-
Australian guidelines for the performance of the sweat test for the diagnosis of cystic fibrosis
-
Coakley J., Scott S., Doery J., Greaves R., Talsma P., Whitham E., et al. Australian guidelines for the performance of the sweat test for the diagnosis of cystic fibrosis. Clin. Biochem. Rev. 27 (2006) S1-S7
-
(2006)
Clin. Biochem. Rev.
, vol.27
-
-
Coakley, J.1
Scott, S.2
Doery, J.3
Greaves, R.4
Talsma, P.5
Whitham, E.6
-
9
-
-
47049115524
-
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report
-
Cystic Fibrosis Foundation
-
Farrell P.M., Rosenstein B.J., White T.B., Accurso F.J., Castellani C., Cutting G.R., et al., Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J. Pediatr. 153 2 (2008 Aug) S4-S14
-
(2008)
J. Pediatr.
, vol.153
, Issue.2
-
-
Farrell, P.M.1
Rosenstein, B.J.2
White, T.B.3
Accurso, F.J.4
Castellani, C.5
Cutting, G.R.6
-
10
-
-
47049116520
-
The limitations of sweat electrolyte reference intervals for the diagnosis of cystic fibrosis: a systematic review
-
Mishra A., Greaves R., and Massie J. The limitations of sweat electrolyte reference intervals for the diagnosis of cystic fibrosis: a systematic review. Clin. Biochem. Rev. 28 2 (2007 May) 60-76
-
(2007)
Clin. Biochem. Rev.
, vol.28
, Issue.2
, pp. 60-76
-
-
Mishra, A.1
Greaves, R.2
Massie, J.3
-
11
-
-
0030365197
-
Sweat testing for the diagnosis of cystic fibrosis: practical considerations
-
LeGrys V.A. 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, V.A.1
-
12
-
-
0023147504
-
Misdiagnosis of cystic fibrosis. Need for continuing follow-up and reevaluation
-
Rosenstein B.J., and Langbaum T.S. Misdiagnosis of cystic fibrosis. Need for continuing follow-up and reevaluation. Clin. Pediatr. 26 (1987) 78-82
-
(1987)
Clin. Pediatr.
, vol.26
, pp. 78-82
-
-
Rosenstein, B.J.1
Langbaum, T.S.2
-
13
-
-
20244377857
-
Diagnosis of cystic fibrosis after newborn screening: the Australasian experience-twenty years and five million babies later: a consensus statement from the Australasian paediatric respiratory group
-
Massie J., and Clements B. Diagnosis of cystic fibrosis after newborn screening: the Australasian experience-twenty years and five million babies later: a consensus statement from the Australasian paediatric respiratory group. Pediatr. Pulmonol. 39 5 (2005) 440-446
-
(2005)
Pediatr. Pulmonol.
, vol.39
, Issue.5
, pp. 440-446
-
-
Massie, J.1
Clements, B.2
-
15
-
-
0028086056
-
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
-
Highsmith W.E., Burch L.H., Zhou Z., et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N. Engl. J. Med. 331 (1994) 974-978
-
(1994)
N. Engl. J. Med.
, vol.331
, pp. 974-978
-
-
Highsmith, W.E.1
Burch, L.H.2
Zhou, Z.3
-
16
-
-
0036009317
-
Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations
-
Padoan R., Bassotti A., Seia M., and Corbetta C. Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations. Eur. J. Pediatr. 161 (2002) 212-215
-
(2002)
Eur. J. Pediatr.
, vol.161
, pp. 212-215
-
-
Padoan, R.1
Bassotti, A.2
Seia, M.3
Corbetta, C.4
-
17
-
-
9244225677
-
A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis
-
Gibson L.E., and Cooke R.E. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 23 (1959) 545-549
-
(1959)
Pediatrics
, vol.23
, pp. 545-549
-
-
Gibson, L.E.1
Cooke, R.E.2
-
18
-
-
63949087934
-
-
Wescor Inc [Accessed 2 August 2006]
-
Wescor Inc. http://www.wescor.com [Accessed 2 August 2006]
-
-
-
-
19
-
-
57649232744
-
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations
-
Dequeker E., Stuhrmann M., Morris M.A., Casals T., Castellani C., Claustres M., et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations. Eur. J. Hum. Genet. (2008, Aug 6)
-
(2008)
Eur. J. Hum. Genet.
-
-
Dequeker, E.1
Stuhrmann, M.2
Morris, M.A.3
Casals, T.4
Castellani, C.5
Claustres, M.6
-
20
-
-
0033911954
-
High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia
-
Gomez Lira M., Benetazzo M.G., Marzari M.G., Bombieri C., Belpinati F., Castellani C., et al. High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia. Am. J. Hum. Genet. 66 (2000) 2013-2014
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 2013-2014
-
-
Gomez Lira, M.1
Benetazzo, M.G.2
Marzari, M.G.3
Bombieri, C.4
Belpinati, F.5
Castellani, C.6
-
21
-
-
12644300645
-
CFTR gene mutations in adults with disseminated bronchiectasis
-
Girodon E., Cazeneuve C., Lebargy F., Chinet T., Costes B., Ghanem N., et al. CFTR gene mutations in adults with disseminated bronchiectasis. Eur. J. Hum. Genet. 5 3 (1997, May-Jun) 149-155
-
(1997)
Eur. J. Hum. Genet.
, vol.5
, Issue.3
, pp. 149-155
-
-
Girodon, E.1
Cazeneuve, C.2
Lebargy, F.3
Chinet, T.4
Costes, B.5
Ghanem, N.6
-
22
-
-
1842603903
-
CFTR genotypes in patients with normal or borderline sweat chloride levels
-
Feldmann D., Couderc R., Audrezet M.P., Ferec C., Bienvenu T., Desgeorges M., et al. CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum. Mutat. 22 4 (2003, Oct) 340
-
(2003)
Hum. Mutat.
, vol.22
, Issue.4
, pp. 340
-
-
Feldmann, D.1
Couderc, R.2
Audrezet, M.P.3
Ferec, C.4
Bienvenu, T.5
Desgeorges, M.6
-
23
-
-
0027278161
-
Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C->T mutation
-
Augarten A., Kerem B.S., Yahav Y., et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C->T mutation. Lancet 342 (1993) 25-26
-
(1993)
Lancet
, vol.342
, pp. 25-26
-
-
Augarten, A.1
Kerem, B.S.2
Yahav, Y.3
|