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Journal Abstract Search

981 related items for PubMed ID: 17242497

  • 1.
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  • 2. 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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  • 4. Genotype-phenotype relationship for five CFTR mutations frequently identified in western France.
    Duguépéroux I, De Braekeleer M, Participating Centres to the French National Cystic Fibrosis Registry.
    J Cyst Fibros; 2004 Dec; 3(4):259-63. PubMed ID: 15698945
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  • 6. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
    Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD.
    Hum Mutat; 2000 Dec; 16(2):143-56. PubMed ID: 10923036
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  • 8. Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis.
    Gallegos-Orozco JF, E Yurk C, Wang N, Rakela J, Charlton MR, Cutting GR, Balan V.
    Am J Gastroenterol; 2005 Apr; 100(4):874-8. PubMed ID: 15784035
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  • 9. 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 Apr; 5(1):43-7. PubMed ID: 7537150
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  • 11. Cystic fibrosis in Uruguay.
    Luzardo G, Aznarez I, Crispino B, Mimbacas A, Martínez L, Poggio R, Zielenski J, Tsui LC, Cardoso H.
    Genet Mol Res; 2002 Mar 31; 1(1):32-8. PubMed ID: 14963811
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  • 12. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
    Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T.
    Ann Hum Genet; 2007 Mar 31; 71(Pt 2):194-201. PubMed ID: 17331079
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  • 13. Improved detection of CFTR mutations in Southern California Hispanic CF patients.
    Wong LJ, Wang J, Zhang YH, Hsu E, Heim RA, Bowman CM, Woo MS.
    Hum Mutat; 2001 Oct 31; 18(4):296-307. PubMed ID: 11668613
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  • 14. Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.
    Ravnik-Glavac M, Glavac D, Chernick M, di Sant'Agnese P, Dean M.
    Hum Mutat; 1994 Oct 31; 3(3):231-8. PubMed ID: 7517265
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  • 15. CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V.
    Plouvier E, Cougoureux E, Sardet A, Tournier G, Aymard P, Feldmann D.
    Ann Genet; 1997 Oct 31; 40(3):185-8. PubMed ID: 9401110
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  • 16. High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
    des Georges M, Guittard C, Altiéri JP, Templin C, Sarles J, Sarda P, Claustres M.
    J Cyst Fibros; 2004 Dec 31; 3(4):265-72. PubMed ID: 15698946
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  • 17. 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 31; 54(10):1456-60. PubMed ID: 15987793
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  • 18. Application of multiplex ARMS and SSCP/HD analysis in molecular diagnosis of cystic fibrosis in Indian patients.
    Ashavaid TF, Kondkar AA, Dherai AJ, Raghavan R, Udani SV, Udwadia ZF, Desai D.
    Mol Diagn; 2005 Oct 31; 9(2):59-66. PubMed ID: 16137181
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  • 19. Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.
    Kádasi L, Poláková H, Zatková A, Kayserová H.
    Gene Geogr; 1997 Apr 31; 11(1):51-6. PubMed ID: 9615214
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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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