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Journal Abstract Search

413 related items for PubMed ID: 11547256

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  • 2. 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 KW, Sermet I, Munck A, Derichs N, Middleton PG, Hjelte L, Padoan R, Vasar M, De Boeck K.
    Thorax; 2009 Aug; 64(8):683-91. PubMed ID: 19318346
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  • 6. CFTR genotypes in patients with normal or borderline sweat chloride levels.
    Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E.
    Hum Mutat; 2003 Oct; 22(4):340. PubMed ID: 12955726
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  • 8. Molecular diagnosis of cystic fibrosis in Indian patients--a preliminary report.
    Ashavaid TF, Dherai AJ, Kondkar AA, Raghavan R, Udani SV, Udwadia ZF, Desai D.
    J Assoc Physicians India; 2003 Apr; 51():345-8. PubMed ID: 12723646
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  • 9. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
    Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittel L, Friedman KJ, Silverman LM.
    N Engl J Med; 1994 Oct 13; 331(15):974-80. PubMed ID: 7521937
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  • 11. The CF-CIRC study: a French collaborative study to assess the accuracy of cystic fibrosis diagnosis in neonatal screening.
    Sermet-Gaudelus I, Roussel D, Bui S, Deneuville E, Huet F, Reix P, Bellon G, Lenoir G, Edelman A.
    BMC Pediatr; 2006 Oct 03; 6():25. PubMed ID: 17018149
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  • 12. Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
    Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR.
    N Engl J Med; 2002 Aug 08; 347(6):401-7. PubMed ID: 12167682
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  • 14. Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results.
    Desmarquest P, Feldmann D, Tamalat A, Boule M, Fauroux B, Tournier G, Clement A.
    Chest; 2000 Dec 08; 118(6):1591-7. PubMed ID: 11115444
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