-
1
-
-
0031900652
-
The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel
-
Rosenstein, B.J., Cutting, G.R., The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 132 (1998), 589–595.
-
(1998)
J Pediatr
, vol.132
, pp. 589-595
-
-
Rosenstein, B.J.1
Cutting, G.R.2
-
2
-
-
33749446633
-
Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials
-
Wilschanski, M., Dupuis, A., Ellis, L., Jarvi, K., Zielenski, J., Tullis, E., et al. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Respir Crit Care Med 174 (2006), 787–794.
-
(2006)
Am J Respir Crit Care Med
, vol.174
, pp. 787-794
-
-
Wilschanski, M.1
Dupuis, A.2
Ellis, L.3
Jarvi, K.4
Zielenski, J.5
Tullis, E.6
-
3
-
-
79958083917
-
New clinical diagnostic procedures for cystic fibrosis in Europe
-
De Boeck, K., Derichs, N., Fajac, I., de Jonge, H.R., Bronsveld, I., Sermet, I., et al. New clinical diagnostic procedures for cystic fibrosis in Europe. J Cyst Fibros 10:Suppl 2 (2011), S53–S66.
-
(2011)
J Cyst Fibros
, vol.10
, pp. S53-S66
-
-
De Boeck, K.1
Derichs, N.2
Fajac, I.3
de Jonge, H.R.4
Bronsveld, I.5
Sermet, I.6
-
4
-
-
84890429584
-
Nasal potential difference measurements in diagnosis of cystic fibrosis: an international survey
-
Naehrlich, L., Ballmann, M., Davies, J., Derichs, N., Gonska, T., Hjelte, L., et al. Nasal potential difference measurements in diagnosis of cystic fibrosis: an international survey. J Cyst Fibros 13 (2014), 24–28.
-
(2014)
J Cyst Fibros
, vol.13
, pp. 24-28
-
-
Naehrlich, L.1
Ballmann, M.2
Davies, J.3
Derichs, N.4
Gonska, T.5
Hjelte, L.6
-
5
-
-
33745809841
-
Cystic fibrosis: terminology and diagnostic algorithms
-
De Boeck, K., Wilschanski, M., Castellani, C., Taylor, C., Cuppens, H., Dodge, J., et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 61 (2006), 627–635.
-
(2006)
Thorax
, vol.61
, pp. 627-635
-
-
De Boeck, K.1
Wilschanski, M.2
Castellani, C.3
Taylor, C.4
Cuppens, H.5
Dodge, J.6
-
6
-
-
68049096166
-
Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis
-
Goubau, C., Wilschanski, M., Skalická, V., Lebecque, P., Southern, K.W., Sermet, I., et al. Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax 64 (2009), 683–691.
-
(2009)
Thorax
, vol.64
, pp. 683-691
-
-
Goubau, C.1
Wilschanski, M.2
Skalická, V.3
Lebecque, P.4
Southern, K.W.5
Sermet, I.6
-
7
-
-
47049115524
-
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report
-
Farrell, P.M., Rosenstein, B.J., White, T.B., Accurso, F.J., Castellani, C., Cutting, G.R., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 153 (2008), S4–S14.
-
(2008)
J Pediatr
, vol.153
, pp. S4-S14
-
-
Farrell, P.M.1
Rosenstein, B.J.2
White, T.B.3
Accurso, F.J.4
Castellani, C.5
Cutting, G.R.6
-
8
-
-
84862763252
-
Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language?
-
Ooi, C.Y., Dupuis, A., Ellis, L., Jarvi, K., Martin, S., Gonska, T., et al. Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language?. Thorax 67 (2012), 618–624.
-
(2012)
Thorax
, vol.67
, pp. 618-624
-
-
Ooi, C.Y.1
Dupuis, A.2
Ellis, L.3
Jarvi, K.4
Martin, S.5
Gonska, T.6
-
9
-
-
84893972760
-
Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?
-
Ooi, C.Y., Dupuis, A., Ellis, L., Jarvi, K., Martin, S., Ray, P.N., et al. Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?. Thorax 69 (2014), 254–260.
-
(2014)
Thorax
, vol.69
, pp. 254-260
-
-
Ooi, C.Y.1
Dupuis, A.2
Ellis, L.3
Jarvi, K.4
Martin, S.5
Ray, P.N.6
-
10
-
-
84978882328
-
Nasal potential difference outcomes support diagnostic decisions in cystic fibrosis
-
Tridello, G., Menin, L., Pintani, E., Bergamini, G., Assael, B.M., Melotti, P., Nasal potential difference outcomes support diagnostic decisions in cystic fibrosis. J Cyst Fibros 15 (2016), 579–582.
-
(2016)
J Cyst Fibros
, vol.15
, pp. 579-582
-
-
Tridello, G.1
Menin, L.2
Pintani, E.3
Bergamini, G.4
Assael, B.M.5
Melotti, P.6
-
11
-
-
84867641604
-
Measurements of CFTR-mediated Cl-secretion in human rectal biopsies constitute a robust biomarker for cystic fibrosis diagnosis and prognosis
-
Sousa, M., Servidoni, M.F., Vinagre, A.M., Ramalho, A.S., Bonadia, L.C., Felício, V., et al. Measurements of CFTR-mediated Cl-secretion in human rectal biopsies constitute a robust biomarker for cystic fibrosis diagnosis and prognosis. PLoS One, 7, 2012, e47708.
-
(2012)
PLoS One
, vol.7
, pp. e47708
-
-
Sousa, M.1
Servidoni, M.F.2
Vinagre, A.M.3
Ramalho, A.S.4
Bonadia, L.C.5
Felício, V.6
-
12
-
-
84874117123
-
Evaluation of the intestinal current measurement method as a diagnostic test for cystic fibrosis
-
Cohen-Cymberknoh, M., Yaakov, Y., Shoseyov, D., Shteyer, E., Schachar, E., Rivlin, J., et al. Evaluation of the intestinal current measurement method as a diagnostic test for cystic fibrosis. Pediatr Pulmonol 48 (2013), 229–235.
-
(2013)
Pediatr Pulmonol
, vol.48
, pp. 229-235
-
-
Cohen-Cymberknoh, M.1
Yaakov, Y.2
Shoseyov, D.3
Shteyer, E.4
Schachar, E.5
Rivlin, J.6
-
13
-
-
79958122789
-
Recommendations for the classification of diseases as CFTR-related disorders
-
Bombieri, C., Claustres, M., De Boeck, K., Derichs, N., Dodge, J., Girodon, E., et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 10:Suppl. 2 (2011), S86–S102.
-
(2011)
J Cyst Fibros
, vol.10
, pp. S86-S102
-
-
Bombieri, C.1
Claustres, M.2
De Boeck, K.3
Derichs, N.4
Dodge, J.5
Girodon, E.6
-
14
-
-
33846910543
-
Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy
-
Sims, E.J., Clark, A., McCormick, J., Mehta, G., Connett, G., Mehta, A., Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy. Pediatrics 119 (2007), 19–28.
-
(2007)
Pediatrics
, vol.119
, pp. 19-28
-
-
Sims, E.J.1
Clark, A.2
McCormick, J.3
Mehta, G.4
Connett, G.5
Mehta, A.6
-
15
-
-
84932148646
-
Clinical status and somatic development of patients with or without meconium ileus diagnosed through neonatal screening for cystic fibrosis
-
Zybert, K., Mierzejewska, E., Sands, D., Clinical status and somatic development of patients with or without meconium ileus diagnosed through neonatal screening for cystic fibrosis. Dev Period Med 19 (2015), 41–49.
-
(2015)
Dev Period Med
, vol.19
, pp. 41-49
-
-
Zybert, K.1
Mierzejewska, E.2
Sands, D.3
-
16
-
-
84908497745
-
Differences in clinical condition and genotype at time of diagnosis of cystic fibrosis by newborn screening or by symptoms
-
Vernooij-van Langen, A.M., Gerzon, F.L., Loeber, J.G., Dompeling, E., Dankert-Roelse, J.E., Differences in clinical condition and genotype at time of diagnosis of cystic fibrosis by newborn screening or by symptoms. Mol Genet Metab 113 (2014), 100–104.
-
(2014)
Mol Genet Metab
, vol.113
, pp. 100-104
-
-
Vernooij-van Langen, A.M.1
Gerzon, F.L.2
Loeber, J.G.3
Dompeling, E.4
Dankert-Roelse, J.E.5
-
17
-
-
67349143664
-
European best practice guidelines for cystic fibrosis neonatal screening
-
Castellani, C., Southern, K.W., Brownlee, K., Dankert Roelse, J., Duff, A., Farrell, M., et al. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 8 (2009), 153–173.
-
(2009)
J Cyst Fibros
, vol.8
, pp. 153-173
-
-
Castellani, C.1
Southern, K.W.2
Brownlee, K.3
Dankert Roelse, J.4
Duff, A.5
Farrell, M.6
-
18
-
-
34250621406
-
Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines
-
LeGrys, V.A., Yankaskas, J.R., Quittell, L.M., Marshall, B.C., Mogayzel, P.J. Jr., Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. J Pediatr 151 (2007), 85–89.
-
(2007)
J Pediatr
, vol.151
, pp. 85-89
-
-
LeGrys, V.A.1
Yankaskas, J.R.2
Quittell, L.M.3
Marshall, B.C.4
Mogayzel, P.J.5
-
19
-
-
0008208571
-
Sweat testing: sample collection and quantitative analysis Approved guideline C34A2
-
NCCLS Wayne, PA
-
National Committee for Clinical Laboratory Standards (NCCLS), Sweat testing: sample collection and quantitative analysis Approved guideline C34A2. 2000, NCCLS, Wayne, PA.
-
(2000)
-
-
National Committee for Clinical Laboratory Standards (NCCLS)1
-
20
-
-
84948098125
-
Sweat conductivity and coulometric quantitative test in neonatal cystic fibrosis screening
-
Domingos, M.T., Magdalena, N.I., Cat, M.N., Watanabe, A.M., Rosário Filho, N.A., Sweat conductivity and coulometric quantitative test in neonatal cystic fibrosis screening. J Pediatr (Rio J) 91 (2015), 590–595.
-
(2015)
J Pediatr (Rio J)
, vol.91
, pp. 590-595
-
-
Domingos, M.T.1
Magdalena, N.I.2
Cat, M.N.3
Watanabe, A.M.4
Rosário Filho, N.A.5
-
21
-
-
84938288226
-
Clinical evaluation of the Nanoduct sweat test system in the diagnosis of cystic fibrosis after newborn screening
-
Vernooij-van Langen, A., Dompeling, E., Yntema, J.B., Arets, B., Tiddens, H., Loeber, G., et al. Clinical evaluation of the Nanoduct sweat test system in the diagnosis of cystic fibrosis after newborn screening. Eur J Pediatr 174 (2015), 1025–1034.
-
(2015)
Eur J Pediatr
, vol.174
, pp. 1025-1034
-
-
Vernooij-van Langen, A.1
Dompeling, E.2
Yntema, J.B.3
Arets, B.4
Tiddens, H.5
Loeber, G.6
-
22
-
-
85002933300
-
Sources of variation in sweat chloride measurements in cystic fibrosis
-
Collaco, J.M., Blackman, S.M., Raraigh, K.S., Corvol, H., Rommens, J.M., Pace, R.G., et al. Sources of variation in sweat chloride measurements in cystic fibrosis. Am J Respir Crit Care Med 194 (2016), 1375–1382.
-
(2016)
Am J Respir Crit Care Med
, vol.194
, pp. 1375-1382
-
-
Collaco, J.M.1
Blackman, S.M.2
Raraigh, K.S.3
Corvol, H.4
Rommens, J.M.5
Pace, R.G.6
-
23
-
-
84961221214
-
Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations
-
[pii: S1569-1993(16)30006-6]
-
Vermeulen, F., Le Camus, C., Davies, J.C., Bilton, D., Milenković, D., De Boeck, K., Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations. J Cyst Fibros, 2017;16:36-40 [pii: S1569-1993(16)30006-6].
-
(2017)
J Cyst Fibros
-
-
Vermeulen, F.1
Le Camus, C.2
Davies, J.C.3
Bilton, D.4
Milenković, D.5
De Boeck, K.6
-
24
-
-
85009843369
-
Biological variability of the sweat chloride in diagnostic sweat tests: a retrospective analysis
-
[accepted for publication]
-
Vermeulen, F., Lebecque, P., De Boeck, K., Leal, T., Biological variability of the sweat chloride in diagnostic sweat tests: a retrospective analysis. J Cyst Fibros, 2017;16:30-35 [accepted for publication].
-
(2017)
J Cyst Fibros
-
-
Vermeulen, F.1
Lebecque, P.2
De Boeck, K.3
Leal, T.4
-
25
-
-
84885022205
-
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
-
Sosnay, P.R., Siklosi, K.R., Van Goor, F., Kaniecki, K., Yu, H., Sharma, N., et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 45 (2013), 1160–1167.
-
(2013)
Nat Genet
, vol.45
, pp. 1160-1167
-
-
Sosnay, P.R.1
Siklosi, K.R.2
Van Goor, F.3
Kaniecki, K.4
Yu, H.5
Sharma, N.6
-
26
-
-
84872190665
-
CFTR biomarkers: time for promotion to surrogate end-point
-
De Boeck, K., Kent, L., Davies, J., Derichs, N., Amaral, M., Rowe, S.M., et al. CFTR biomarkers: time for promotion to surrogate end-point. Eur Respir J 41 (2013), 203–216.
-
(2013)
Eur Respir J
, vol.41
, pp. 203-216
-
-
De Boeck, K.1
Kent, L.2
Davies, J.3
Derichs, N.4
Amaral, M.5
Rowe, S.M.6
-
27
-
-
35449001628
-
Reproducibility of nasal potential difference measurements in cystic fibrosis
-
Yaakov, Y., Kerem, E., Yahav, Y., Rivlin, J., Blau, H., Bentur, L., et al. Reproducibility of nasal potential difference measurements in cystic fibrosis. Chest 132 (2007), 1219–1226.
-
(2007)
Chest
, vol.132
, pp. 1219-1226
-
-
Yaakov, Y.1
Kerem, E.2
Yahav, Y.3
Rivlin, J.4
Blau, H.5
Bentur, L.6
-
28
-
-
84880774140
-
Optimizing nasal potential difference analysis for CFTR modulator development: assessment of ivacaftor in CF subjects with the G551D-CFTR mutation
-
Rowe, S.M., Liu, B., Hill, A., Hathorne, H., Cohen, M., Beamer, J.R., et al. Optimizing nasal potential difference analysis for CFTR modulator development: assessment of ivacaftor in CF subjects with the G551D-CFTR mutation. PLoS One, 8, 2013, e66955.
-
(2013)
PLoS One
, vol.8
, pp. e66955
-
-
Rowe, S.M.1
Liu, B.2
Hill, A.3
Hathorne, H.4
Cohen, M.5
Beamer, J.R.6
-
29
-
-
84937522740
-
Improved repeatability of nasal potential difference with a larger surface catheter
-
Vermeulen, F., Proesmans, M., Boon, M., De Boeck, K., Improved repeatability of nasal potential difference with a larger surface catheter. J Cyst Fibros 14 (2015), 317–323.
-
(2015)
J Cyst Fibros
, vol.14
, pp. 317-323
-
-
Vermeulen, F.1
Proesmans, M.2
Boon, M.3
De Boeck, K.4
-
30
-
-
77958180032
-
Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport
-
Sermet-Gaudelus, I., Girodon, E., Sands, D., Stremmler, N., Vavrova, V., Deneuville, E., et al. Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport. Am J Respir Crit Care Med 182 (2010), 929–936.
-
(2010)
Am J Respir Crit Care Med
, vol.182
, pp. 929-936
-
-
Sermet-Gaudelus, I.1
Girodon, E.2
Sands, D.3
Stremmler, N.4
Vavrova, V.5
Deneuville, E.6
-
31
-
-
77953705905
-
Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis
-
Sermet-Gaudelus, I., Girodon, E., Roussel, D., Deneuville, E., Bui, S., Huet, F., et al. Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis. Thorax 65 (2010), 539–544.
-
(2010)
Thorax
, vol.65
, pp. 539-544
-
-
Sermet-Gaudelus, I.1
Girodon, E.2
Roussel, D.3
Deneuville, E.4
Bui, S.5
Huet, F.6
-
32
-
-
11044220951
-
Intestinal current measurements to diagnose cystic fibrosis
-
Hug, M.J., Tümmler, B., Intestinal current measurements to diagnose cystic fibrosis. J Cyst Fibros 3:Suppl. 2 (2004), 157–158.
-
(2004)
J Cyst Fibros
, vol.3
, pp. 157-158
-
-
Hug, M.J.1
Tümmler, B.2
-
33
-
-
77955298789
-
Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data
-
Derichs, N., Sanz, J., Von Kanel, T., Stolpe, C., Zapf, A., Tümmler, B., et al. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax 65 (2010), 594–599.
-
(2010)
Thorax
, vol.65
, pp. 594-599
-
-
Derichs, N.1
Sanz, J.2
Von Kanel, T.3
Stolpe, C.4
Zapf, A.5
Tümmler, B.6
-
34
-
-
84908069345
-
Intestinal current measurement versus nasal potential difference measurements for diagnosis of cystic fibrosis: a case-control study
-
Bagheri-Hanson, A., Nedwed, S., Rueckes-Nilges, C., Naehrlich, L., Intestinal current measurement versus nasal potential difference measurements for diagnosis of cystic fibrosis: a case-control study. BMC Pulm Med, 14, 2014, 156.
-
(2014)
BMC Pulm Med
, vol.14
, pp. 156
-
-
Bagheri-Hanson, A.1
Nedwed, S.2
Rueckes-Nilges, C.3
Naehrlich, L.4
-
35
-
-
84961864501
-
Newborn screening for cystic fibrosis
-
Castellani, C., Massie, J., Sontag, M., Southern, K.W., Newborn screening for cystic fibrosis. Lancet Respir Med 4 (2016), 653–661.
-
(2016)
Lancet Respir Med
, vol.4
, pp. 653-661
-
-
Castellani, C.1
Massie, J.2
Sontag, M.3
Southern, K.W.4
-
36
-
-
84948734736
-
Challenges in Cystic fibrosis newborn screening and recommendations for primary care physicians
-
Sosnay, P.R., Farrell, P., Challenges in Cystic fibrosis newborn screening and recommendations for primary care physicians. Pediatrics 136 (2015), 1181–1184.
-
(2015)
Pediatrics
, vol.136
, pp. 1181-1184
-
-
Sosnay, P.R.1
Farrell, P.2
-
37
-
-
84930160557
-
Cystic fibrosis screen positive, inconclusive diagnosis (cfspid): a new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening
-
Munck, A., Mayell, S.J., Winters, V., Shawcross, A., Derichs, N., Parad, R., et al. Cystic fibrosis screen positive, inconclusive diagnosis (cfspid): a new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J Cyst Fibros 14 (2015), 706–713.
-
(2015)
J Cyst Fibros
, vol.14
, pp. 706-713
-
-
Munck, A.1
Mayell, S.J.2
Winters, V.3
Shawcross, A.4
Derichs, N.5
Parad, R.6
-
38
-
-
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.B., Sharp, J.K., Sabadosa, K.A., Robinson, K.A., Rock, M.J., 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 155:Suppl. 6 (2009), 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
-
39
-
-
84984691505
-
Cystic fibrosis screen positive, inconclusive diagnosis
-
Barben, J., Southern, K.W., Cystic fibrosis screen positive, inconclusive diagnosis. Curr Opin Pulm Med 22 (2016), 617–622.
-
(2016)
Curr Opin Pulm Med
, vol.22
, pp. 617-622
-
-
Barben, J.1
Southern, K.W.2
-
40
-
-
84948823512
-
Newborn screening for cystic fibrosis in California
-
Kharrazi, M., Yang, J., Bishop, T., Lessing, S., Young, S., Graham, S., et al. Newborn screening for cystic fibrosis in California. Pediatrics 136 (2015), 1062–1072.
-
(2015)
Pediatrics
, vol.136
, pp. 1062-1072
-
-
Kharrazi, M.1
Yang, J.2
Bishop, T.3
Lessing, S.4
Young, S.5
Graham, S.6
-
41
-
-
80054969908
-
Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome
-
Ren, C.L., Desai, H., Platt, M., Dixon, M., Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome. Pediatr Pulmonol 46 (2011), 1079–1084.
-
(2011)
Pediatr Pulmonol
, vol.46
, pp. 1079-1084
-
-
Ren, C.L.1
Desai, H.2
Platt, M.3
Dixon, M.4
-
42
-
-
84930150429
-
Outcomes of infants with indeterminate diagnosis detected by cystic fibrosis newborn screening
-
Ren, C.L., Fink, A.K., Petren, K., Borowitz, D.S., McColley, S.A., Sanders, D.B., et al. Outcomes of infants with indeterminate diagnosis detected by cystic fibrosis newborn screening. Pediatrics 135 (2015), e1386–e1392.
-
(2015)
Pediatrics
, vol.135
, pp. e1386-e1392
-
-
Ren, C.L.1
Fink, A.K.2
Petren, K.3
Borowitz, D.S.4
McColley, S.A.5
Sanders, D.B.6
-
43
-
-
84930586814
-
Inconclusive diagnosis of cystic fibrosis after newborn screening
-
Ooi, C.Y., Castellani, C., Keenan, K., Avolio, J., Volpi, S., Boland, M., et al. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics 135 (2015), e1377–e1385.
-
(2015)
Pediatrics
, vol.135
, pp. e1377-e1385
-
-
Ooi, C.Y.1
Castellani, C.2
Keenan, K.3
Avolio, J.4
Volpi, S.5
Boland, M.6
-
44
-
-
25144469405
-
Steering Committee of the UK Cystic Fibrosis Database. Neonatal screening for cystic fibrosis is beneficial even in the context of modern treatment
-
Sims, E.J., McCormick, J., Mehta, G., Mehta, A., Steering Committee of the UK Cystic Fibrosis Database. Neonatal screening for cystic fibrosis is beneficial even in the context of modern treatment. J Pediatr 147:Suppl. 3 (2005), S42–S46.
-
(2005)
J Pediatr
, vol.147
, pp. S42-S46
-
-
Sims, E.J.1
McCormick, J.2
Mehta, G.3
Mehta, A.4
-
45
-
-
85006314493
-
Differences in outcomes between early and late diagnosis of cystic fibrosis in the newborn screening era
-
[pii: S0022-3476(16)31178-7]
-
Coffey, M.J., Whitaker, V., Gentin, N., Junek, R., Shalhoub, C., Nightingale, S., et al. Differences in outcomes between early and late diagnosis of cystic fibrosis in the newborn screening era. J Pediatr, 2017;181:137-145 [pii: S0022-3476(16)31178-7].
-
(2017)
J Pediatr
-
-
Coffey, M.J.1
Whitaker, V.2
Gentin, N.3
Junek, R.4
Shalhoub, C.5
Nightingale, S.6
-
46
-
-
84957612708
-
Cystic fibrosis carrier screening effects on birth prevalence and newborn screening
-
Castellani, C., Picci, L., Tridello, G., Casati, E., Tamanini, A., Bartoloni, L., et al. Cystic fibrosis carrier screening effects on birth prevalence and newborn screening. Genet Med 18 (2016), 145–151.
-
(2016)
Genet Med
, vol.18
, pp. 145-151
-
-
Castellani, C.1
Picci, L.2
Tridello, G.3
Casati, E.4
Tamanini, A.5
Bartoloni, L.6
-
47
-
-
84857620330
-
Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France
-
Scotet, V., Duguépéroux, I., Saliou, P., Rault, G., Roussey, M., Audrézet, M.P., et al. Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France. Orphanet J Rare Dis, 7, 2012, 14.
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 14
-
-
Scotet, V.1
Duguépéroux, I.2
Saliou, P.3
Rault, G.4
Roussey, M.5
Audrézet, M.P.6
-
48
-
-
33750949242
-
Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?
-
Scotet, V., Audrézet, M.P., Roussey, M., Rault, G., Dirou-Prigent, A., Journel, H., et al. Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?. Pediatrics 118 (2006), e1523–e1529.
-
(2006)
Pediatrics
, vol.118
, pp. e1523-e1529
-
-
Scotet, V.1
Audrézet, M.P.2
Roussey, M.3
Rault, G.4
Dirou-Prigent, A.5
Journel, H.6
-
49
-
-
0027408231
-
Mutations in CFTR associated with mild-disease-form Cl-channels with altered pore properties
-
Sheppard, D.N., Rich, D.P., Ostedgaard, L.S., Gregory, R.J., Smith, A.E., Welsh, M.J., Mutations in CFTR associated with mild-disease-form Cl-channels with altered pore properties. Nature 362 (1993), 160–164.
-
(1993)
Nature
, vol.362
, pp. 160-164
-
-
Sheppard, D.N.1
Rich, D.P.2
Ostedgaard, L.S.3
Gregory, R.J.4
Smith, A.E.5
Welsh, M.J.6
-
50
-
-
9144235448
-
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
-
Groman, J.D., Hefferon, T.W., Casals, T., Bassas, L., Estivill, X., Des Georges, M., et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 74 (2004), 176–179.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 176-179
-
-
Groman, J.D.1
Hefferon, T.W.2
Casals, T.3
Bassas, L.4
Estivill, X.5
Des Georges, M.6
-
51
-
-
31344474603
-
Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8
-
Peckham, D., Conway, S.P., 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 5 (2006), 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
-
52
-
-
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., et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 46 (2009), 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
-
53
-
-
84954271261
-
Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years
-
Lundman, E., Gaup, H.J., Bakkeheim, E., Olafsdottir, E.J., Rootwelt, T., Storrøsten, O.T., et al. Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years. J Cyst Fibros 15 (2016), 318–324.
-
(2016)
J Cyst Fibros
, vol.15
, pp. 318-324
-
-
Lundman, E.1
Gaup, H.J.2
Bakkeheim, E.3
Olafsdottir, E.J.4
Rootwelt, T.5
Storrøsten, O.T.6
-
54
-
-
84955186521
-
Treatment burden in patients with at least one class IV or V CFTR mutation
-
Dewulf, J., Vermeulen, F., Wanyama, S., Thomas, M., Proesmans, M., Dupont, L., et al. Treatment burden in patients with at least one class IV or V CFTR mutation. Pediatr Pulmonol 50 (2015), 1230–1236.
-
(2015)
Pediatr Pulmonol
, vol.50
, pp. 1230-1236
-
-
Dewulf, J.1
Vermeulen, F.2
Wanyama, S.3
Thomas, M.4
Proesmans, M.5
Dupont, L.6
-
55
-
-
84880070930
-
Differences in the pattern of structural abnormalities on CT scan in patients with cystic fibrosis and pancreatic sufficiency or insufficiency
-
Simanovsky, N., Cohen-Cymberknoh, M., Shoseyov, D., Gileles-Hillel, A., Wilschanski, M., Kerem, E., et al. Differences in the pattern of structural abnormalities on CT scan in patients with cystic fibrosis and pancreatic sufficiency or insufficiency. Chest 144 (2013), 208–214.
-
(2013)
Chest
, vol.144
, pp. 208-214
-
-
Simanovsky, N.1
Cohen-Cymberknoh, M.2
Shoseyov, D.3
Gileles-Hillel, A.4
Wilschanski, M.5
Kerem, E.6
-
56
-
-
4143074815
-
Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis
-
Davis, P.B., Schluchter, M.D., Konstan, M.W., Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis. Pediatr Pulmonol 38 (2004), 204–209.
-
(2004)
Pediatr Pulmonol
, vol.38
, pp. 204-209
-
-
Davis, P.B.1
Schluchter, M.D.2
Konstan, M.W.3
-
57
-
-
85002959925
-
Copy number variations in the survival motor neuron genes: implications for spinal muscular atrophy and other neurodegenerative diseases
-
Butchbach, M.E., Copy number variations in the survival motor neuron genes: implications for spinal muscular atrophy and other neurodegenerative diseases. Front Mol Biosci, 3, 2016, 7.
-
(2016)
Front Mol Biosci
, vol.3
, pp. 7
-
-
Butchbach, M.E.1
-
58
-
-
84948577865
-
Asthma phenotypes and endotypes: a personalized approach to treatment
-
Skloot, G.S., Asthma phenotypes and endotypes: a personalized approach to treatment. Curr Opin Pulm Med 22 (2016), 3–9.
-
(2016)
Curr Opin Pulm Med
, vol.22
, pp. 3-9
-
-
Skloot, G.S.1
-
59
-
-
84867608087
-
β-adrenergic sweat secretion as a diagnostic test for cystic fibrosis
-
Quinton, P., Molyneux, L., Ip, W., Dupuis, A., Avolio, J., Tullis, E., et al. β-adrenergic sweat secretion as a diagnostic test for cystic fibrosis. Am J Respir Crit Care Med 186 (2012), 732–739.
-
(2012)
Am J Respir Crit Care Med
, vol.186
, pp. 732-739
-
-
Quinton, P.1
Molyneux, L.2
Ip, W.3
Dupuis, A.4
Avolio, J.5
Tullis, E.6
-
60
-
-
84886248186
-
In vivo readout of CFTR function: ratiometric measurement of CFTR-dependent secretion by individual, identifiable human sweat glands
-
Wine, J.J., Char, J.E., Chen, J., Cho, H.J., Dunn, C., Frisbee, E., et al. In vivo readout of CFTR function: ratiometric measurement of CFTR-dependent secretion by individual, identifiable human sweat glands. PLoS One, 8, 2013, e77114.
-
(2013)
PLoS One
, vol.8
, pp. e77114
-
-
Wine, J.J.1
Char, J.E.2
Chen, J.3
Cho, H.J.4
Dunn, C.5
Frisbee, E.6
-
61
-
-
84992364732
-
Evaporimeter and bubble-imaging measures of sweat gland secretion rates
-
Kim, J., Farahmand, M., Dunn, C., Davies, Z., Frisbee, E., Milla, C., et al. Evaporimeter and bubble-imaging measures of sweat gland secretion rates. PLoS One, 11, 2016, e0165254.
-
(2016)
PLoS One
, vol.11
, pp. e0165254
-
-
Kim, J.1
Farahmand, M.2
Dunn, C.3
Davies, Z.4
Frisbee, E.5
Milla, C.6
-
62
-
-
84975464759
-
Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis
-
Dekkers, J.F., Berkers, G., Kruisselbrink, E., Vonk, A., de Jonge, H.R., Janssens, H.M., et al. Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis. Sci Transl Med, 8, 2016, 344ra84.
-
(2016)
Sci Transl Med
, vol.8
, pp. 344ra84
-
-
Dekkers, J.F.1
Berkers, G.2
Kruisselbrink, E.3
Vonk, A.4
de Jonge, H.R.5
Janssens, H.M.6
-
63
-
-
84902343264
-
CFTR functional measurements in human models for diagnosis, prognosis and personalized therapy: report on the pre-conference meeting to the 11th ECFS Basic Science Conference, Malta, 26–29 March 2014
-
Beekman, J.M., Sermet-Gaudelus, I., de Boeck, K., Gonska, T., Derichs, N., Mall, M.A., et al. CFTR functional measurements in human models for diagnosis, prognosis and personalized therapy: report on the pre-conference meeting to the 11th ECFS Basic Science Conference, Malta, 26–29 March 2014. J Cyst Fibros 13 (2014), 363–372.
-
(2014)
J Cyst Fibros
, vol.13
, pp. 363-372
-
-
Beekman, J.M.1
Sermet-Gaudelus, I.2
de Boeck, K.3
Gonska, T.4
Derichs, N.5
Mall, M.A.6
-
64
-
-
79952522208
-
Improved survival at low lung function in cystic fibrosis: cohort study from 1990 to 2007
-
George, P.M., Banya, W., Pareek, N., Bilton, D., Cullinan, P., Hodson, M.E., et al. Improved survival at low lung function in cystic fibrosis: cohort study from 1990 to 2007. BMJ, 342, 2011, d1008.
-
(2011)
BMJ
, vol.342
, pp. d1008
-
-
George, P.M.1
Banya, W.2
Pareek, N.3
Bilton, D.4
Cullinan, P.5
Hodson, M.E.6
-
65
-
-
84878119352
-
Ageing in cystic fibrosis and long-term survival
-
Simmonds, N., Ageing in cystic fibrosis and long-term survival. Paediatr Respir Rev 14:Suppl. 1 (2013), 6–9.
-
(2013)
Paediatr Respir Rev
, vol.14
, pp. 6-9
-
-
Simmonds, N.1
-
66
-
-
85010430613
-
Cystic fibrosis – comparison between patients in paediatric and adult age
-
[pii: S2173-5115(16)30088-4]
-
Santos, V., Cardoso, A.V., Lopes, C., Azevedo, P., Gamboa, F., Amorim, A., Cystic fibrosis – comparison between patients in paediatric and adult age. Rev Port Pneumol, 2017;23(2006):17-21 [pii: S2173-5115(16)30088-4].
-
(2017)
Rev Port Pneumol
-
-
Santos, V.1
Cardoso, A.V.2
Lopes, C.3
Azevedo, P.4
Gamboa, F.5
Amorim, A.6
-
67
-
-
77957712666
-
Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis
-
Nick, J.A., Chacon, C.S., Brayshaw, S.J., Jones, M.C., Barboa, C.M., St Clair, C.G., et al. Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis. Am J Respir Crit Care Med 182 (2010), 614–626.
-
(2010)
Am J Respir Crit Care Med
, vol.182
, pp. 614-626
-
-
Nick, J.A.1
Chacon, C.S.2
Brayshaw, S.J.3
Jones, M.C.4
Barboa, C.M.5
St Clair, C.G.6
-
68
-
-
84959423406
-
Diagnosis of adult patients with cystic fibrosis
-
Nick, J.A., Nichols, D.P., Diagnosis of adult patients with cystic fibrosis. Clin Chest Med 37 (2016), 47–57.
-
(2016)
Clin Chest Med
, vol.37
, pp. 47-57
-
-
Nick, J.A.1
Nichols, D.P.2
-
69
-
-
84937541123
-
Breaking bad news, the diagnosis of cystic fibrosis in childhood
-
Havermans, T., Tack, J., Vertommen, A., Proesmans, M., de Boeck, K., Breaking bad news, the diagnosis of cystic fibrosis in childhood. J Cyst Fibros 14 (2015), 540–546.
-
(2015)
J Cyst Fibros
, vol.14
, pp. 540-546
-
-
Havermans, T.1
Tack, J.2
Vertommen, A.3
Proesmans, M.4
de Boeck, K.5
-
70
-
-
33847711906
-
Cystic fibrosis mortality and survival in the UK: 1947–2003
-
Dodge, J.A., Lewis, P.A., Stanton, M., Wilsher, J., Cystic fibrosis mortality and survival in the UK: 1947–2003. Eur Respir J 29 (2007), 522–526.
-
(2007)
Eur Respir J
, vol.29
, pp. 522-526
-
-
Dodge, J.A.1
Lewis, P.A.2
Stanton, M.3
Wilsher, J.4
-
71
-
-
84961933652
-
Progress in therapies for cystic fibrosis
-
De Boeck, K., Amaral, M.D., Progress in therapies for cystic fibrosis. Lancet Respir Med 4 (2016), 662–674.
-
(2016)
Lancet Respir Med
, vol.4
, pp. 662-674
-
-
De Boeck, K.1
Amaral, M.D.2
-
72
-
-
0036628120
-
Communicating a diagnosis of cystic fibrosis to an adult: what physicians need to know
-
Widerman, E., Communicating a diagnosis of cystic fibrosis to an adult: what physicians need to know. Behav Med 28 (2002), 45–52.
-
(2002)
Behav Med
, vol.28
, pp. 45-52
-
-
Widerman, E.1
|