BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

317 related articles for article (PubMed ID: 15024729)

  • 1. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.
    Audrézet MP; Chen JM; Raguénès O; Chuzhanova N; Giteau K; Le Maréchal C; Quéré I; Cooper DN; Férec C
    Hum Mutat; 2004 Apr; 23(4):343-57. PubMed ID: 15024729
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
    Férec C; Casals T; Chuzhanova N; Macek M; Bienvenu T; Holubova A; King C; McDevitt T; Castellani C; Farrell PM; Sheridan M; Pantaleo SJ; Loumi O; Messaoud T; Cuppens H; Torricelli F; Cutting GR; Williamson R; Ramos MJ; Pignatti PF; Raguénès O; Cooper DN; Audrézet MP; Chen JM
    Eur J Hum Genet; 2006 May; 14(5):567-76. PubMed ID: 16493442
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Frequency of large CFTR gene rearrangements in Italian CF patients.
    Bombieri C; Bonizzato A; Castellani C; Assael BM; Pignatti PF
    Eur J Hum Genet; 2005 May; 13(5):687-9. PubMed ID: 15741992
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene.
    Chevalier-Porst F; Souche G; Bozon D
    Hum Mutat; 2005 May; 25(5):504. PubMed ID: 15841482
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study.
    Tomaiuolo R; Sangiuolo F; Bombieri C; Bonizzato A; Cardillo G; Raia V; D'Apice MR; Bettin MD; Pignatti PF; Castaldo G; Novelli G
    J Cyst Fibros; 2008 Sep; 7(5):347-51. PubMed ID: 18280224
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.
    Schneider M; Hirt C; Casaulta C; Barben J; Spinas R; Bühlmann U; Spalinger J; Schwizer B; Chevalier-Porst F; Gallati S
    Clin Genet; 2007 Jul; 72(1):30-8. PubMed ID: 17594397
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.
    Paracchini V; Seia M; Coviello D; Porcaro L; Costantino L; Capasso P; Degiorgio D; Padoan R; Corbetta C; Claut L; Costantini D; Colombo C
    Clin Genet; 2008 Apr; 73(4):346-52. PubMed ID: 18279436
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients.
    Alibakhshi R; Zamani M
    Iran J Allergy Asthma Immunol; 2006 Mar; 5(1):3-8. PubMed ID: 17242497
    [TBL] [Abstract][Full Text] [Related]  

  • 9. CFTR rearrangements in Spanish cystic fibrosis patients: first new duplication (35kb) characterised in the Mediterranean countries.
    Ramos MD; Masvidal L; Giménez J; Bieth E; Seia M; des Georges M; Armengol L; Casals T
    Ann Hum Genet; 2010 Sep; 74(5):463-9. PubMed ID: 20560922
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 18(4):296-307. PubMed ID: 11668613
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Large genomic rearrangements in the CFTR gene contribute to CBAVD.
    Taulan M; Girardet A; Guittard C; Altieri JP; Templin C; Beroud C; des Georges M; Claustres M
    BMC Med Genet; 2007 Apr; 8():22. PubMed ID: 17448246
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide.
    Bienvenu T; Cazeneuve C; Kaplan JC; Beldjord C
    Hum Mutat; 1995; 6(1):23-9. PubMed ID: 7550227
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A frame-shift mutation in the cystic fibrosis gene.
    White MB; Amos J; Hsu JM; Gerrard B; Finn P; Dean M
    Nature; 1990 Apr; 344(6267):665-7. PubMed ID: 1691449
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
    Ratbi I; Legendre M; Niel F; Martin J; Soufir JC; Izard V; Costes B; Costa C; Goossens M; Girodon E
    Hum Reprod; 2007 May; 22(5):1285-91. PubMed ID: 17329263
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Isolation of CF cell lines corrected at DeltaF508-CFTR locus by SFHR-mediated targeting.
    Bruscia E; Sangiuolo F; Sinibaldi P; Goncz KK; Novelli G; Gruenert DC
    Gene Ther; 2002 Jun; 9(11):683-5. PubMed ID: 12032687
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 40(3):185-8. PubMed ID: 9401110
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations.
    Eggerding FA; Iovannisci DM; Brinson E; Grossman P; Winn-Deen ES
    Hum Mutat; 1995; 5(2):153-65. PubMed ID: 7538376
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.
    Verlingue C; Kapranov NI; Mercier B; Ginter EK; Petrova NV; Audrezet MP; Férec C
    Hum Mutat; 1995; 5(3):205-9. PubMed ID: 7541273
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.