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Journal Abstract Search

294 related items for PubMed ID: 15084222

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  • 4. Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations.
    Kolesár P, Minárik G, Baldovic M, Ficek A, Kovács L, Kádasi L.
    Gen Physiol Biophys; 2008 Dec; 27(4):299-305. PubMed ID: 19202204
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  • 5. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
    Alibakhshi R, Kianishirazi R, Cassiman JJ, Zamani M, Cuppens H.
    J Cyst Fibros; 2008 Mar; 7(2):102-9. PubMed ID: 17662673
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  • 6. A 96-well formatted method for exon and exon/intron boundary full sequencing of the CFTR gene.
    Lucarelli M, Narzi L, Piergentili R, Ferraguti G, Grandoni F, Quattrucci S, Strom R.
    Anal Biochem; 2006 Jun 15; 353(2):226-35. PubMed ID: 16635477
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  • 7. Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC.
    Hum Mutat; 1995 Jun 15; 5(1):43-7. PubMed ID: 7537150
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  • 8. Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis.
    Naguib ML, Schrijver I, Gardner P, Pique LM, Doss SS, Abu Zekry MA, Aziz M, Nasr SZ.
    J Cyst Fibros; 2007 Apr 15; 6(2):111-6. PubMed ID: 16837250
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  • 11. Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.
    Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, Rady M, Russo MP, Romeo G, Devoto M.
    Hum Mutat; 1992 Apr 15; 1(4):314-9. PubMed ID: 1284538
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  • 12. 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 15; 18(2):166. PubMed ID: 11462247
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  • 13. [Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis].
    Iwańczak F, Smigiel R, Stawarski A, Pawłowicz J, Stembalska A, Mowszet K, Sasiadek M.
    Pol Merkur Lekarski; 2005 Feb 15; 18(104):205-9. PubMed ID: 17877132
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  • 16. CFTR gene mutations in adults with disseminated bronchiectasis.
    Girodon E, Cazeneuve C, Lebargy F, Chinet T, Costes B, Ghanem N, Martin J, Lemay S, Scheid P, Housset B, Bignon J, Goossens M.
    Eur J Hum Genet; 1997 Feb 15; 5(3):149-55. PubMed ID: 9272738
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  • 17. Screening methods for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in non-human primates.
    Glavac D, Ravnik-Glavac M, Potocnik U, Dean M, Wine J.
    Pflugers Arch; 2000 Feb 15; 439(3 Suppl):R12-3. PubMed ID: 10653125
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  • 20. Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism.
    D'Apice MR, Gambardella S, Russo S, Lucidi V, Nardone AM, Pietropolli A, Novelli G.
    Prenat Diagn; 2004 Dec 15; 24(12):981-3. PubMed ID: 15614862
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