-
1
-
-
84890558513
-
Uncertain diagnosis after newborn screening for cystic fibrosis: And ethics-based approach to a clinical dilemma
-
Massie J, Gillam L. Uncertain diagnosis after newborn screening for cystic fibrosis: and ethics-based approach to a clinical dilemma. Pediatr Pulmonol 2014;49:1-7.
-
(2014)
Pediatr Pulmonol
, vol.49
, pp. 1-7
-
-
Massie, J.1
Gillam, L.2
-
2
-
-
77449133011
-
Cystic fibrosis foundation practice guidelines for the management of infants with cystic fibrosis transmembrane regulator-related metabolic syndrome during the first two years of life and beyond
-
Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, Rock MJ, Farrell PM, Sontag MK, Rosenfeld M, Davis SD, et al. Cystic fibrosis foundation practice guidelines for the management of infants with cystic fibrosis transmembrane regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009;155:S106-S116.
-
(2009)
J Pediatr
, vol.155
, pp. S106-S116
-
-
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
-
3
-
-
84920998334
-
Epidemiology and phenotypic variability of US patients with cystic fibrosis and the R117H mutation
-
Fink A, Elbert A, Marshall B, Wagener J. Epidemiology and phenotypic variability of US patients with cystic fibrosis and the R117H mutation. Pediatr Pulmonol 2013;S36:372.
-
(2013)
Pediatr Pulmonol
, vol.S36
, pp. 372
-
-
Fink, A.1
Elbert, A.2
Marshall, B.3
Wagener, J.4
-
4
-
-
0033842814
-
Pancreatic function and extended mutation analysis in delta F508 heterozygous infants with an elevated immunoreactive trysinogen but normal sweat chloride levels
-
Massie JR, Wilcken B, Van Asperen P, Dorney S, Gruca M, Wiley V, Gaskin K. Pancreatic function and extended mutation analysis in delta F508 heterozygous infants with an elevated immunoreactive trysinogen but normal sweat chloride levels. J Pediatr 2000;137:214-220.
-
(2000)
J Pediatr
, vol.137
, pp. 214-220
-
-
Massie, J.R.1
Wilcken, B.2
Van Asperen, P.3
Dorney, S.4
Gruca, M.5
Wiley, V.6
Gaskin, K.7
-
5
-
-
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, Génin E, Bellis G, Gautier E, Audrézet M-P, Férec C, Lalau G, Des Georges M, 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
Génin, E.4
Bellis, G.5
Gautier, E.6
Audrézet, M.-P.7
Férec, C.8
Lalau, G.9
Des Georges, M.10
-
6
-
-
33847773290
-
Outcomes of a cohort of immunoreactive trypsinogen (IRT)/DNA cystic fibrosis newborn screening (CFNBS) positive infants with R117H as one of two detected CFTR mutations: Worrisome throat culture findings
-
Parad R, Comeau A, Soultan Z, Anbar R, Pass K, Caggana M, Dorkin H, Quizon A, Waltz D, Martin M, et al. Outcomes of a cohort of immunoreactive trypsinogen (IRT)/DNA cystic fibrosis newborn screening (CFNBS) positive infants with R117H as one of two detected CFTR mutations: worrisome throat culture findings. Pediatr Pulmonol 2005;S28:256.
-
(2005)
Pediatr Pulmonol
, vol.28
, pp. 256
-
-
Parad, R.1
Comeau, A.2
Soultan, Z.3
Anbar, R.4
Pass, K.5
Caggana, M.6
Dorkin, H.7
Quizon, A.8
Waltz, D.9
Martin, M.10
-
7
-
-
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
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