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Journal Abstract Search

1074 related items for PubMed ID: 20522854

  • 1. 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, Guillot M, Aboutaam R, Renouil M, Munck A, des Georges M, Iron A, Thauvin-Robinet C, Fajac I, Lenoir G, Roussey M, Edelman A.
    Thorax; 2010 Jun; 65(6):539-44. PubMed ID: 20522854
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 3. 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, Reix P, Bui S, Huet F, Lebourgeois M, Munck A, Iron A, Skalicka V, Bienvenu T, Roussel D, Lenoir G, Bellon G, Sarles J, Macek M, Roussey M, Fajac I, Edelman A.
    Am J Respir Crit Care Med; 2010 Oct 01; 182(7):929-36. PubMed ID: 20538955
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  • 4. 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, Gallati S, Ballmann M.
    Thorax; 2010 Jul 01; 65(7):594-9. PubMed ID: 20627915
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  • 5. 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 01; 64(8):683-91. PubMed ID: 19318346
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  • 6. Diagnosis of cystic fibrosis in adults with diffuse bronchiectasis.
    Hubert D, Fajac I, Bienvenu T, Desmazes-Dufeu N, Ellaffi M, Dall'ava-Santucci J, Dusser D.
    J Cyst Fibros; 2004 Mar 01; 3(1):15-22. PubMed ID: 15463882
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  • 8. Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.
    Narzi L, Ferraguti G, Stamato A, Narzi F, Valentini SB, Lelli A, Delaroche I, Lucarelli M, Strom R, Quattrucci S.
    Clin Genet; 2007 Jul 01; 72(1):39-46. PubMed ID: 17594398
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  • 9. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm.
    Parad RB, Comeau AM.
    J Pediatr; 2005 Sep 01; 147(3 Suppl):S78-82. PubMed ID: 16202789
    [Abstract] [Full Text] [Related]

  • 10. Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes.
    Sontag MK, Hammond KB, Zielenski J, Wagener JS, Accurso FJ.
    J Pediatr; 2005 Sep 01; 147(3 Suppl):S83-8. PubMed ID: 16202790
    [Abstract] [Full Text] [Related]

  • 11. Screening for cystic fibrosis: the importance of using the correct tools.
    Shah U, Moatter T.
    J Ayub Med Coll Abbottabad; 2006 Sep 01; 18(1):7-10. PubMed ID: 16773960
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  • 14. Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis.
    Bienvenu T, Sermet-Gaudelus I, Burgel PR, Hubert D, Crestani B, Bassinet L, Dusser D, Fajac I.
    Am J Respir Crit Care Med; 2010 May 15; 181(10):1078-84. PubMed ID: 20167849
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  • 17. Cystic fibrosis transmembrane conductance regulator ion channel function testing in recurrent acute pancreatitis.
    Segal I, Yaakov Y, Adler SN, Blau H, Broide E, Santo M, Yahav Y, Klar A, Lerner A, Aviram M, Ellis I, Mountford R, Shteyer E, Kerem E, Wilschanski M.
    J Clin Gastroenterol; 2008 Aug 15; 42(7):810-4. PubMed ID: 18360295
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  • 19. Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.
    Stanke F, Ballmann M, Bronsveld I, Dörk T, Gallati S, Laabs U, Derichs N, Ritzka M, Posselt HG, Harms HK, Griese M, Blau H, Mastella G, Bijman J, Veeze H, Tümmler B.
    J Med Genet; 2008 Jan 15; 45(1):47-54. PubMed ID: 18178635
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  • 20. Diagnosis of cystic fibrosis in the kindred of an infant with CFTR-related metabolic syndrome: importance of follow-up that includes monitoring sweat chloride concentrations over time.
    Williams SN, Nussbaum E, Chin TW, Do PC, Singh KE, Randhawa I.
    Pediatr Pulmonol; 2014 Mar 15; 49(3):E103-8. PubMed ID: 24535988
    [Abstract] [Full Text] [Related]

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