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Journal Abstract Search

828 related items for PubMed ID: 16429425

  • 1. Cystic fibrosis mutations with widely variable phenotype: the D1152H example.
    Mussaffi H, Prais D, Mei-Zahav M, Blau H.
    Pediatr Pulmonol; 2006 Mar; 41(3):250-4. PubMed ID: 16429425
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  • 2. Non-classic cystic fibrosis associated with D1152H CFTR mutation.
    Burgel PR, Fajac I, Hubert D, Grenet D, Stremler N, Roussey M, Siret D, Languepin J, Mely L, Fanton A, Labbé A, Domblides P, Vic P, Dagorne M, Reynaud-Gaubert M, Counil F, Varaigne F, Bienvenu T, Bellis G, Dusser D.
    Clin Genet; 2010 Apr; 77(4):355-64. PubMed ID: 19843100
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  • 3. Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.
    Weiss FU, Simon P, Bogdanova N, Mayerle J, Dworniczak B, Horst J, Lerch MM.
    Gut; 2005 Oct; 54(10):1456-60. PubMed ID: 15987793
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  • 4. The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype.
    Augarten A, Ben Tov A, Madgar I, Barak A, Akons H, Laufer J, Efrati O, Aviram M, Bentur L, Blau H, Paret G, Wilschanski M, Kerem BS, Yahav Y.
    Eur J Gastroenterol Hepatol; 2008 Mar; 20(3):164-8. PubMed ID: 18301294
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  • 9. Pulmonary infection in mild variant cystic fibrosis: implications for care.
    Lording A, McGaw J, Dalton A, Beal G, Everard M, Taylor CJ.
    J Cyst Fibros; 2006 May; 5(2):101-4. PubMed ID: 16426904
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  • 10. Familial concordance of phenotype and microbial variation among siblings with CF.
    Picard E, Aviram M, Yahav Y, Rivlin J, Blau H, Bentur L, Avital A, Villa Y, Schwartz S, Kerem B, Kerem E.
    Pediatr Pulmonol; 2004 Oct; 38(4):292-7. PubMed ID: 15334505
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  • 11. 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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  • 12. Reaching the diagnosis of cystic fibrosis--the limits of the spectrum.
    Lotem Y, Barak A, Mussaffi H, Shohat M, Wilschanski M, Sivan Y, Blau H.
    Isr Med Assoc J; 2000 Feb; 2(2):94-8. PubMed ID: 10804926
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  • 13. Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis.
    Castellani C, Gomez Lira M, Frulloni L, Delmarco A, Marzari M, Bonizzato A, Cavallini G, Pignatti P, Mastella G.
    Hum Mutat; 2001 Aug; 18(2):166. PubMed ID: 11462247
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  • 14. [Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].
    Schwartz M.
    Ugeskr Laeger; 2003 Feb 24; 165(9):912-6. PubMed ID: 12661515
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  • 16. 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 24; 42(7):810-4. PubMed ID: 18360295
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  • 19. Symptomatic pancreatitis in patients with cystic fibrosis.
    Gooding I, Bradley E, Puleston J, Gyi KM, Hodson M, Westaby D.
    Am J Gastroenterol; 2009 Jun 24; 104(6):1519-23. PubMed ID: 19491865
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  • 20. 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, Audrézet MP, Férec C, Lalau G, Georges MD, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Costa C, Medina R, Leclerc J, Hubert D, Nové-Josserand R, Sermet-Gaudelus I, Rault G, Flori J, Leroy S, Wizla N, Bellon G, Haloun A, Perez-Martin S, d'Acremont G, Corvol H, Clément A, Houssin E, Binquet C, Bonithon-Kopp C, Alberti-Boulmé C, Morris MA, Faivre L, Goossens M, Roussey M, Collaborating Working Group on R117H, Girodon E.
    J Med Genet; 2009 Nov 24; 46(11):752-8. PubMed ID: 19880712
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