메뉴 건너뛰기




Volumn 182, Issue 7, 2010, Pages 929-936

Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport

(22)  Sermet Gaudelus, Isabelle a,b   Girodon, Emanuelle c   Sands, Dorota d   Stremmler, Nathalie e   Vavrova, Vera f   Deneuville, Eric g   Reix, Philippe h   Bui, Stéphanie i   Huet, Frédéric j   Lebourgeois, Muriel a   Munck, Anne k   Iron, Albert i   Skalicka, Veronika f   Bienvenu, Thierry l   Roussel, Delphine b   Lenoir, Gérard a   Bellon, Gabriel h   Sarles, Jacques e   Macek, Milan f   Roussey, Michel g   more..

b INSERM   (France)

Author keywords

CFTR related disorders; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator (CFTR); Nasal potential difference

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR; BIOLOGICAL MARKER;

EID: 77958180032     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.201003-0382OC     Document Type: Article
Times cited : (57)

References (33)
  • 2
    • 0031900652 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis: A consensus statement
    • Cystic Fibrosis Foundation Consensus Panel
    • Rosenstein BJ, Cutting GR; Cystic Fibrosis Foundation Consensus Panel. The diagnosis of cystic fibrosis: a consensus statement. J Pediatr 1998;132:689-695.
    • (1998) J Pediatr , vol.132 , pp. 689-695
    • Rosenstein, B.J.1    Cutting, G.R.2
  • 4
    • 0142074353 scopus 로고    scopus 로고
    • Nonclassic cystic fibrosis and CFTR-related diseases
    • Boyle MP. Nonclassic cystic fibrosis and CFTR-related diseases. Curr Opin Pulm Med 2003;9:498-503.
    • (2003) Curr Opin Pulm Med , vol.9 , pp. 498-503
    • Boyle, M.P.1
  • 5
    • 0035722764 scopus 로고    scopus 로고
    • "CFTR-opathies": Disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
    • Noone PG, Knowles MR. "CFTR-opathies": disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2001;2:328-332.
    • (2001) Respir Res , vol.2 , pp. 328-332
    • Noone, P.G.1    Knowles, M.R.2
  • 6
    • 33745204656 scopus 로고    scopus 로고
    • Atypical CF and CF related diseases
    • Kerem E. Atypical CF and CF related diseases. Paediatr Respir Rev 2006;7:S144-S146.
    • (2006) Paediatr Respir Rev , vol.7
    • Kerem, E.1
  • 7
    • 34249697608 scopus 로고    scopus 로고
    • Cystic fibrosis and formes frustes of CFTR-related disease
    • Southern KW. Cystic fibrosis and formes frustes of CFTR-related disease. Respiration 2007;74:241-251.
    • (2007) Respiration , vol.74 , pp. 241-251
    • Southern, K.W.1
  • 10
    • 0028991826 scopus 로고
    • In vivo nasal potential difference: Techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis
    • Knowles MR, Paradiso AM, Boucher RC. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther 1993;6:445-455.
    • (1993) Hum Gene Ther , vol.6 , pp. 445-455
    • Knowles, M.R.1    Paradiso, A.M.2    Boucher, R.C.3
  • 11
    • 76549091391 scopus 로고    scopus 로고
    • Physiological measurements confirming the diagnosis of cystic fibrosis: The sweat test and measurements of transepithelial difference
    • Taylor CJ, Hardcastle J, Southern KW. Physiological measurements confirming the diagnosis of cystic fibrosis: the sweat test and measurements of transepithelial difference. Paediatr Respir Rev 2009;10:220-226.
    • (2009) Paediatr Respir Rev , vol.10 , pp. 220-226
    • Taylor, C.J.1    Hardcastle, J.2    Southern, K.W.3
  • 13
    • 0030956949 scopus 로고    scopus 로고
    • Nasal potential difference in cystic fibrosis patients presenting borderline sweat test
    • Delmarco A, Pradal U, Cabrini G, Bonizzato A, Mastella G. Nasal potential difference in cystic fibrosis patients presenting borderline sweat test. Eur Respir J 1997;10:1145-1149. (Pubitemid 27201823)
    • (1997) European Respiratory Journal , vol.10 , Issue.5 , pp. 1145-1149
    • Delmarco, A.1    Pradal, U.2    Cabrini, G.3    Bonizzato, A.4    Mastella, G.5
  • 15
    • 68049096166 scopus 로고    scopus 로고
    • Phenotypic characterization 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 KW, Sermet I, Munck A, Derichs N, Middleton PG, Hjelte L, et al. Phenotypic characterization of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax 2009;64:683-691.
    • (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    Munck, A.7    Derichs, N.8    Middleton, P.G.9    Hjelte, L.10
  • 18
    • 0026780584 scopus 로고
    • Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions
    • Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992;13:770-776.
    • (1992) Genomics , vol.13 , pp. 770-776
    • Fanen, P.1    Ghanem, N.2    Vidaud, M.3    Besmond, C.4    Martin, J.5    Costes, B.6    Plassa, F.7    Goossens, M.8
  • 19
    • 0035020939 scopus 로고    scopus 로고
    • Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): Major implications for genetic counselling
    • Le Maréchal C, Audrézet MP, Quéré I, Raguénès O, Langonné S, Férec C. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet 2001;108:290-298.
    • (2001) Hum Genet , vol.108 , pp. 290-298
    • Le Maréchal, C.1    Audrézet, M.P.2    Quéré, I.3    Raguénès, O.4    Langonné, S.5    Férec, C.6
  • 23
    • 0141887254 scopus 로고    scopus 로고
    • Chronic cough in adults
    • Morice AH, Kastelik JA. Chronic cough in adults. Thorax 2003;58:901-907.
    • (2003) Thorax , vol.58 , pp. 901-907
    • Morice, A.H.1    Kastelik, J.A.2
  • 29
    • 70349117013 scopus 로고    scopus 로고
    • Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease
    • Fajac I, Viel M, Gaitch N, Hubert D, Bienvenu T. Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease. Eur Respir J 2009;34:772-773.
    • (2009) Eur Respir J , vol.34 , pp. 772-773
    • Fajac, I.1    Viel, M.2    Gaitch, N.3    Hubert, D.4    Bienvenu, T.5
  • 32
  • 33
    • 59449091347 scopus 로고    scopus 로고
    • Atypical cystic fibrosis and CFTR-related diseases
    • Paranjape SM, Zeitlin PL. Atypical cystic fibrosis and CFTR-related diseases. Clin Rev Allergy Immunol 2008;35:116-123.
    • (2008) Clin Rev Allergy Immunol , vol.35 , pp. 116-123
    • Paranjape, S.M.1    Zeitlin, P.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.