메뉴 건너뛰기




Volumn 46, Issue 6P2, 2017, Pages e97-e108

The diagnosis of cystic fibrosis

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; CFTR PROTEIN, HUMAN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 85019975490     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lpm.2017.04.010     Document Type: Short Survey
Times cited : (65)

References (72)
  • 1
    • 0031900652 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 4
    • 84890429584 scopus 로고    scopus 로고
    • 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
  • 6
    • 68049096166 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 19
    • 0008208571 scopus 로고    scopus 로고
    • 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
  • 21
    • 84938288226 scopus 로고    scopus 로고
    • 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
  • 23
    • 84961221214 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 27
    • 35449001628 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 36
    • 84948734736 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 41
    • 80054969908 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 55
    • 84880070930 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 60
    • 84886248186 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 70
    • 33847711906 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.