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Journal Abstract Search

62 related items for PubMed ID: 7538905

  • 1. [Detection of the G551D mutation in a patient with nasal polyps].
    Kuchynková Z, Macek M, Holcát M, Macek M.
    Cas Lek Cesk; 1995 Apr 05; 134(7):212-3. PubMed ID: 7538905
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  • 4. L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis.
    Rozen R, Ferreira-Rajabi L, Robb L, Colman N.
    Am J Med Genet; 1995 Jul 03; 57(3):437-9. PubMed ID: 7545869
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  • 5. Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
    Beck S, Penque D, Garcia S, Gomes A, Farinha C, Mata L, Gulbenkian S, Gil-Ferreira K, Duarte A, Pacheco P, Barreto C, Lopes B, Cavaco J, Lavinha J, Amaral MD.
    Hum Mutat; 1999 Jul 03; 14(2):133-44. PubMed ID: 10425036
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  • 7. Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype.
    De Boeck K, Weren M, Proesmans M, Kerem E.
    Pediatrics; 2005 Apr 03; 115(4):e463-9. PubMed ID: 15772171
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  • 8. 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 03; 64(8):683-91. PubMed ID: 19318346
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  • 10. [Relation between gene mutations and pancreatic exocrine function in patients with cystic fibrosis].
    Radivojević D, Guć-Sćekić M, Djurisić M, Lalić T, Minić P, Kanavakis E.
    Srp Arh Celok Lek; 2001 Aug 03; 129 Suppl 1():6-9. PubMed ID: 15637983
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  • 11. Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.
    Brugnon F, Bilan F, Heraud MC, Grizard G, Janny L, Creveaux I.
    Fertil Steril; 2008 Nov 03; 90(5):2004.e23-6. PubMed ID: 18703181
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  • 12. Cystic fibrosis mutations with widely variable phenotype: the D1152H example.
    Mussaffi H, Prais D, Mei-Zahav M, Blau H.
    Pediatr Pulmonol; 2006 Mar 03; 41(3):250-4. PubMed ID: 16429425
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  • 15. [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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  • 17. Is nasal polyposis in cystic fibrosis a direct manifestation of genetic mutation or a complication of chronic infection?
    De Gaudemar I, Contencin P, Van den Abbeele T, Munck A, Navarro J, Narcy P.
    Rhinology; 1996 Dec 24; 34(4):194-7. PubMed ID: 9050094
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