-
1
-
-
77958150238
-
Emerging issues in cystic fibrosis newborn screening
-
Castellani C, Massie J,. Emerging issues in cystic fibrosis newborn screening. Curr Opin Pulm Med 2010; 16: 584-590.
-
(2010)
Curr Opin Pulm Med
, vol.16
, pp. 584-590
-
-
Castellani, C.1
Massie, J.2
-
2
-
-
34047248697
-
More evidence to favour newborn screening for cystic fibrosis
-
Wilcken B, Gaskin K,. More evidence to favour newborn screening for cystic fibrosis. Lancet 2007; 369: 1146-1147.
-
(2007)
Lancet
, vol.369
, pp. 1146-1147
-
-
Wilcken, B.1
Gaskin, K.2
-
3
-
-
0019479972
-
Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots
-
Crossley JR, Smith PA, Edgar BW, Gluckman PD, Elliott RB,. Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots. Clin Chim Acta 1981; 113: 111-121.
-
(1981)
Clin Chim Acta
, vol.113
, pp. 111-121
-
-
Crossley, J.R.1
Smith, P.A.2
Edgar, B.W.3
Gluckman, P.D.4
Elliott, R.B.5
-
4
-
-
0020683758
-
Cystic fibrosis screening by dried blood spot trypsin assay: Results in 75,000 newborn infants
-
Wilcken B, Brown AR, Urwin R, Brown DA,. Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants. J Pediatr 1983; 102: 383-387.
-
(1983)
J Pediatr
, vol.102
, pp. 383-387
-
-
Wilcken, B.1
Brown, A.R.2
Urwin, R.3
Brown, D.A.4
-
5
-
-
0029558007
-
Neonatal screening for cystic fibrosis: A comparison of two strategies for case detection in 1.2 million babies
-
Wilcken B, Wiley V, Sherry G, Bayliss U,. Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies. J Pediatr 1995; 127: 965-970.
-
(1995)
J Pediatr
, vol.127
, pp. 965-970
-
-
Wilcken, B.1
Wiley, V.2
Sherry, G.3
Bayliss, U.4
-
6
-
-
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
-
Cystic Fibrosis Foundation
-
Cystic Fibrosis Foundation, Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, Rock MJ, Farrell PM, Sontag MK, Rosenfeld M, Davis SD, Marshall BC, Accurso FJ,. 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-S116.
-
(2009)
J Pediatr
, vol.155
-
-
Borowitz, D.1
Parad, R.B.2
Sharp, J.K.3
Sabadosa, K.A.4
Robinson, K.A.5
Rock, M.J.6
Farrell, P.M.7
Sontag, M.K.8
Rosenfeld, M.9
Davis, S.D.10
Marshall, B.C.11
Accurso, F.J.12
-
7
-
-
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
-
Australian Paediatric Respiratory Group.
-
Massie J, Clements B,. Australian Paediatric Respiratory Group. 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 2005; 39: 440-446.
-
(2005)
Pediatr Pulmonol
, vol.39
, pp. 440-446
-
-
Massie, J.1
Clements, B.2
-
8
-
-
0942285246
-
Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: A cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections
-
Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB,. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics 2004; 113: 1573-1581.
-
(2004)
Pediatrics
, vol.113
, pp. 1573-1581
-
-
Comeau, A.M.1
Parad, R.B.2
Dorkin, H.L.3
Dovey, M.4
Gerstle, R.5
Haver, K.6
Lapey, A.7
O'Sullivan, B.P.8
Waltz, D.A.9
Zwerdling, R.G.10
Eaton, R.B.11
-
9
-
-
25844454604
-
Challenges in implementing a successful newborn cystic fibrosis screening program
-
Comeau AM, Parad R, Gerstle R, O'Sullivan BP, Dorkin HL, Dovey M, Haver K, Martin T, Eaton RB,. Challenges in implementing a successful newborn cystic fibrosis screening program. J Pediatr 2005; 147: S89-S93.
-
(2005)
J Pediatr
, vol.147
-
-
Comeau, A.M.1
Parad, R.2
Gerstle, R.3
O'Sullivan, B.P.4
Dorkin, H.L.5
Dovey, M.6
Haver, K.7
Martin, T.8
Eaton, R.B.9
-
10
-
-
33748753066
-
Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens - Implications for newborn screening
-
Kammesheidt A, Kharrazi M, Graham S, Young S, Pearl M, Dunlop C, Keiles S,. Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens-implications for newborn screening. Genet Med 2006; 8: 557-562.
-
(2006)
Genet Med
, vol.8
, pp. 557-562
-
-
Kammesheidt, A.1
Kharrazi, M.2
Graham, S.3
Young, S.4
Pearl, M.5
Dunlop, C.6
Keiles, S.7
-
11
-
-
58149508031
-
A reference interval for sweat chloride in infants aged between five and six weeks of age
-
Jayaraj R, Barton PV, Newland P, Mountford R, Shaw NJ, McCarthy E, Isherwood DM, Southern KW,. A reference interval for sweat chloride in infants aged between five and six weeks of age. Ann Clin Biochem 2009; 46: 73-78.
-
(2009)
Ann Clin Biochem
, vol.46
, pp. 73-78
-
-
Jayaraj, R.1
Barton, P.V.2
Newland, P.3
Mountford, R.4
Shaw, N.J.5
McCarthy, E.6
Isherwood, D.M.7
Southern, K.W.8
-
12
-
-
0033724681
-
Lung disease associated with the IVS8 5T allele of the CFTR gene
-
Noone PG, Pue CA, Zhou Z, Friedman KJ, Wakeling EL, Ganeshananthan M, et al. Lung disease associated with the IVS8 5T allele of the CFTR gene. Am J Respir Crit Care Med 2000; 162: 1919-1924.
-
(2000)
Am J Respir Crit Care Med
, vol.162
, pp. 1919-1924
-
-
Noone, P.G.1
Pue, C.A.2
Zhou, Z.3
Friedman, K.J.4
Wakeling, E.L.5
Ganeshananthan, M.6
-
13
-
-
33749053216
-
Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype
-
O'Sullivan BP, Zwerdling RG, Dorkin HL, Comeau AM, Parad R,. Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype. Pediatrics 2006; 118: 1260-1265.
-
(2006)
Pediatrics
, vol.118
, pp. 1260-1265
-
-
O'Sullivan, B.P.1
Zwerdling, R.G.2
Dorkin, H.L.3
Comeau, A.M.4
Parad, R.5
-
14
-
-
31344474603
-
Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8
-
Peckham D, Conway SP, Morton A, Jones A, Webb K,. Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8. J Cyst Fibros 2006; 5: 63-65.
-
(2006)
J Cyst Fibros
, vol.5
, pp. 63-65
-
-
Peckham, D.1
Conway, S.P.2
Morton, A.3
Jones, A.4
Webb, K.5
-
15
-
-
33947107377
-
Pulmonary manifestations in deltaF508/R117H
-
author reply 647-648.
-
Ren CL,. Pulmonary manifestations in deltaF508/R117H. Pediatrics 2007; 119: 647, author reply 647-648.
-
(2007)
Pediatrics
, vol.119
, pp. 647
-
-
Ren, C.L.1
-
16
-
-
80054969908
-
Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome
-
Ren CL, Desai H, Platt M, Dixon M,. Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome. Pediatr Pulmonol 2011; 46: 1079-1184.
-
(2011)
Pediatr Pulmonol
, vol.46
, pp. 1079-1184
-
-
Ren, C.L.1
Desai, H.2
Platt, M.3
Dixon, M.4
-
17
-
-
84860606583
-
California cystic fibrosis newborn screening C. Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening
-
Keiles S, Koepke R, Parad R, Kharrazi M,. California cystic fibrosis newborn screening C. Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening. J Cyst Fibros 2012; 11: 257-260.
-
(2012)
J Cyst Fibros
, vol.11
, pp. 257-260
-
-
Keiles, S.1
Koepke, R.2
Parad, R.3
Kharrazi, M.4
-
18
-
-
47049115524
-
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation Consensus Report
-
Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW,. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation Consensus Report. J Pediatr 2008; 153: S4-S14.
-
(2008)
J Pediatr
, vol.153
-
-
Farrell, P.M.1
Rosenstein, B.J.2
White, T.B.3
Accurso, F.J.4
Castellani, C.5
Cutting, G.R.6
Durie, P.R.7
Legrys, V.A.8
Massie, J.9
Parad, R.B.10
Rock, M.J.11
Campbell, P.W.12
-
19
-
-
57649155710
-
A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis
-
European Cystic Fibrosis Society Neonatal Screening Working Group.
-
Mayell SJ, Munck A, Craig JV, Sermet I, Brownlee KG, Schwarz MJ, Castellani C, Southern KW, European Cystic Fibrosis Society Neonatal Screening Working Group. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros 2009; 8: 71-78.
-
(2009)
J Cyst Fibros
, vol.8
, pp. 71-78
-
-
Mayell, S.J.1
Munck, A.2
Craig, J.V.3
Sermet, I.4
Brownlee, K.G.5
Schwarz, M.J.6
Castellani, C.7
Southern, K.W.8
-
20
-
-
0345104274
-
Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis
-
Chmiel JF, Drumm ML, Konstan MW, Ferkol TW, Kercsmar CM,. Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis. Pediatrics 1999; 103: 823-826.
-
(1999)
Pediatrics
, vol.103
, pp. 823-826
-
-
Chmiel, J.F.1
Drumm, M.L.2
Konstan, M.W.3
Ferkol, T.W.4
Kercsmar, C.M.5
-
21
-
-
0027162649
-
Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
-
Welsh MJ, Smith AE,. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993; 73: 1251-1254.
-
(1993)
Cell
, vol.73
, pp. 1251-1254
-
-
Welsh, M.J.1
Smith, A.E.2
-
22
-
-
43549114493
-
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
-
Castellani C, Cuppens H, Macek M, Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Giordon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rozzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS,. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008; 7: 179-196.
-
(2008)
J Cyst Fibros
, vol.7
, pp. 179-196
-
-
Castellani, C.1
Cuppens, H.2
Macek, Jr.M.3
Cassiman, J.J.4
Kerem, E.5
Durie, P.6
Tullis, E.7
Assael, B.M.8
Bombieri, C.9
Brown, A.10
Casals, T.11
Claustres, M.12
Cutting, G.R.13
Dequeker, E.14
Dodge, J.15
Doull, I.16
Farrell, P.17
Ferec, C.18
Giordon, E.19
Johannesson, M.20
Kerem, B.21
Knowles, M.22
Munck, A.23
Pignatti, P.F.24
Radojkovic, D.25
Rozzotti, P.26
Schwarz, M.27
Stuhrmann, M.28
Tzetis, M.29
Zielenski, J.30
Elborn, J.S.31
more..
-
23
-
-
0027521663
-
A mutation in CFTR produces different phenotypes depending on chromosomal background
-
Kiesewetter S, Macek M Jr, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, Cahman SM, Tsui LC, Mickle J,. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993; 5: 274-278.
-
(1993)
Nat Genet
, vol.5
, pp. 274-278
-
-
Kiesewetter, S.1
Macek, Jr.M.2
Davis, C.3
Curristin, S.M.4
Chu, C.S.5
Graham, C.6
Shrimpton, A.E.7
Cahman, S.M.8
Tsui, L.C.9
Mickle, J.10
-
24
-
-
0141748240
-
Genetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117H
-
Curnow L, Savarirayan R, Massie J,. Genetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117H. Arch Dis Child 2003; 88: 886-888.
-
(2003)
Arch Dis Child
, vol.88
, pp. 886-888
-
-
Curnow, L.1
Savarirayan, R.2
Massie, J.3
-
25
-
-
0034894085
-
Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C
-
Massie RJ, Poplawski N, Wilcken B, Goldblatt J, Byrnes C, Robertson C,. Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. Eur Respir J 2001; 17: 1195-1200.
-
(2001)
Eur Respir J
, vol.17
, pp. 1195-1200
-
-
Massie, R.J.1
Poplawski, N.2
Wilcken, B.3
Goldblatt, J.4
Byrnes, C.5
Robertson, C.6
-
26
-
-
72449149800
-
The very low penetrance of cystic fibrosis for the R117H mutation: A reappraisal for genetic counselling and newborn screening
-
Thauvin-Robinet C, Munck A, Huet F, Genin E, Bellis G, Gautier E, et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 2009; 46: 752-758.
-
(2009)
J Med Genet
, vol.46
, pp. 752-758
-
-
Thauvin-Robinet, C.1
Munck, A.2
Huet, F.3
Genin, E.4
Bellis, G.5
Gautier, E.6
-
28
-
-
77449133012
-
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis
-
Cystic Fibrosis F, Borowitz D, Robinson KA, Rosenfeld M, Davis SD, Sabadosa KA, Spear SL, Michel SH, Parad RB, White TB, Farrell PM, Marshall BC, Accurso FJ,. Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr 2009; 155: S73-S93.
-
(2009)
J Pediatr
, vol.155
-
-
Cystic Fibrosis, F.1
Borowitz, D.2
Robinson, K.A.3
Rosenfeld, M.4
Davis, S.D.5
Sabadosa, K.A.6
Spear, S.L.7
Michel, S.H.8
Parad, R.B.9
White, T.B.10
Farrell, P.M.11
Marshall, B.C.12
Accurso, F.J.13
-
29
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M,. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332: 1475-1480.
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chillon, M.1
Casals, T.2
Mercier, B.3
Bassas, L.4
Lissens, W.5
Silber, S.6
Romey, M.C.7
Ruiz-Romero, J.8
Verlingue, C.9
Claustres, M.10
-
30
-
-
48949093822
-
Is my sick child healthy? Is my healthy child sick?: Changing parental experiences of cystic fibrosis in the age of expanded newborn screening
-
Grob R,. Is my sick child healthy? Is my healthy child sick?: changing parental experiences of cystic fibrosis in the age of expanded newborn screening. Soc Sci Med 2008; 67: 1056-1064.
-
(2008)
Soc Sci Med
, vol.67
, pp. 1056-1064
-
-
Grob, R.1
-
31
-
-
55049104215
-
Safety of bronchoalveolar lavage in young children with cystic fibrosis
-
Wainwright CE, Grimwood K, Carlin JB, Vidmar S, Cooper PJ, Francis PW, Byrnes CA, Whitehead BF, Martin AJ, Robertson IF, Cooper DM, Dakin CJ, Masters IB, Masie RJ, Robinson PJ, Ranganathan S, Armstrong DS, Patterson LK, Robertson CF,. Safety of bronchoalveolar lavage in young children with cystic fibrosis. Pediatr Pulmonol 2008; 43: 965-972.
-
(2008)
Pediatr Pulmonol
, vol.43
, pp. 965-972
-
-
Wainwright, C.E.1
Grimwood, K.2
Carlin, J.B.3
Vidmar, S.4
Cooper, P.J.5
Francis, P.W.6
Byrnes, C.A.7
Whitehead, B.F.8
Martin, A.J.9
Robertson, I.F.10
Cooper, D.M.11
Dakin, C.J.12
Masters, I.B.13
Masie, R.J.14
Robinson, P.J.15
Ranganathan, S.16
Armstrong, D.S.17
Patterson, L.K.18
Robertson, C.F.19
-
32
-
-
77954437978
-
Pseudomonas aeruginosa in children with cystic fibrosis diagnosed through newborn screening: Assessment of clinic exposures and microbial genotypes
-
Hayes D, Jr, West SE, Rock MJ, Li Z, Splaingard ML, Farrell PM,. Pseudomonas aeruginosa in children with cystic fibrosis diagnosed through newborn screening: assessment of clinic exposures and microbial genotypes. Pediatr Pulmonol 2010; 45: 708-716.
-
(2010)
Pediatr Pulmonol
, vol.45
, pp. 708-716
-
-
Hayes, Jr.D.1
West, S.E.2
Rock, M.J.3
Li, Z.4
Splaingard, M.L.5
Farrell, P.M.6
-
33
-
-
66749141432
-
Oropharyngeal flora in healthy infants: Observations and implications for cystic fibrosis care
-
Carlson D, McKeen E, Mitchell M, Torres B, Parad R, Comeau AM, O'Sullivan BP,. Oropharyngeal flora in healthy infants: observations and implications for cystic fibrosis care. Pediatr Pulmonol 2009; 44: 497-502.
-
(2009)
Pediatr Pulmonol
, vol.44
, pp. 497-502
-
-
Carlson, D.1
McKeen, E.2
Mitchell, M.3
Torres, B.4
Parad, R.5
Comeau, A.M.6
O'Sullivan, B.P.7
-
34
-
-
0032718969
-
Diagnostic accuracy of oropharyngeal cultures in infants and young children with cystic fibrosis
-
Rosenfeld M, Emerson J, Accurso F, Armstrong D, Castile R, Grimwood K, Hiatt P, McCoy K, McNamara S, Ramsey B, Wagener J,. Diagnostic accuracy of oropharyngeal cultures in infants and young children with cystic fibrosis. Pediatr Pulmonol 1999; 28: 321-328.
-
(1999)
Pediatr Pulmonol
, vol.28
, pp. 321-328
-
-
Rosenfeld, M.1
Emerson, J.2
Accurso, F.3
Armstrong, D.4
Castile, R.5
Grimwood, K.6
Hiatt, P.7
McCoy, K.8
McNamara, S.9
Ramsey, B.10
Wagener, J.11
-
35
-
-
84856365804
-
Children's bioethics and the zone of parental discretion
-
Gillam L,. Children's bioethics and the zone of parental discretion. Monash Bioeth Rev 2010; 20: 09.1-09.3.
-
(2010)
Monash Bioeth Rev
, vol.20
, pp. 091-093
-
-
Gillam, L.1
-
36
-
-
33644661639
-
Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing
-
Massie J, Curnow L, Tzanakos N, Francis I, Robertson CF,. Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing. Arch Dis Child 2006; 91: 222-225.
-
(2006)
Arch Dis Child
, vol.91
, pp. 222-225
-
-
Massie, J.1
Curnow, L.2
Tzanakos, N.3
Francis, I.4
Robertson, C.F.5
|