BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 12089190)

  • 21. [Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis].
    Repetto G; Poggi H; Harris P; Navarro H; Sánchez I; Guiraldes E; Pérez MA; Boza ML; Hunter B; Wevar ME; Mediavilla M; Foradori A
    Rev Med Chil; 2001 Aug; 129(8):841-7. PubMed ID: 11680956
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel high-resolution melting analysis strategy for detecting cystic fibrosis-causing variants.
    Díez Rodríguez GR; Figueredo Lago JE; Armas Cayarga A; González González YJ; García de la Rosa I; Collazo Mesa T; López Reyes I; Batista Lozada Y; Rodríguez Calá FR; García Sánchez JB
    Lab Med; 2024 Mar; 55(2):185-197. PubMed ID: 37417450
    [TBL] [Abstract][Full Text] [Related]  

  • 23. R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series.
    Villalona S; Glover-López G; Ortega-García JA; Moya-Quiles R; Mondejar-López P; Martínez-Romero MC; Rigabert-Montiel M; Pastor-Vivero MD; Sánchez-Solís M
    J Med Case Rep; 2017 Feb; 11(1):42. PubMed ID: 28196530
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland.
    Hughes D; Dörk T; Stuhrmann M; Graham C
    J Med Genet; 2001 Feb; 38(2):136-9. PubMed ID: 11288718
    [No Abstract]   [Full Text] [Related]  

  • 25. Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
    Petrova NV; Marakhonov AV; Vasilyeva TA; Kashirskaya NY; Ginter EK; Kutsev SI; Zinchenko RA
    Clin Genet; 2019 Mar; 95(3):444-447. PubMed ID: 30548586
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Regulation of cystic fibrosis transmembrane conductance regulator by microRNA-145, -223, and -494 is altered in ΔF508 cystic fibrosis airway epithelium.
    Oglesby IK; Chotirmall SH; McElvaney NG; Greene CM
    J Immunol; 2013 Apr; 190(7):3354-62. PubMed ID: 23436935
    [TBL] [Abstract][Full Text] [Related]  

  • 27. CFTR gene and cystic fibrosis.
    Gaskin KJ
    J Gastroenterol Hepatol; 2004 Feb; 19(2):228. PubMed ID: 14731137
    [No Abstract]   [Full Text] [Related]  

  • 28. Microsphere bead arrays and sequence validation of 5/7/9T genotypes for multiplex screening of cystic fibrosis polymorphisms.
    Hadd AG; Laosinchai-Wolf W; Novak CR; Badgett MR; Isgur LA; Goldrick M; Walkerpeach CR
    J Mol Diagn; 2004 Nov; 6(4):348-55. PubMed ID: 15507674
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.
    Feuillet-Fieux MN; Sermet I; Edelman A; Torossi T; Ferrec M; Guillot M; Lenoir G; Bonnefont JP; Thuillier L
    Hum Mutat; 2000 Jul; 16(1):95. PubMed ID: 10874326
    [No Abstract]   [Full Text] [Related]  

  • 31. VX-659-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.
    Davies JC; Moskowitz SM; Brown C; Horsley A; Mall MA; McKone EF; Plant BJ; Prais D; Ramsey BW; Taylor-Cousar JL; Tullis E; Uluer A; McKee CM; Robertson S; Shilling RA; Simard C; Van Goor F; Waltz D; Xuan F; Young T; Rowe SM;
    N Engl J Med; 2018 Oct; 379(17):1599-1611. PubMed ID: 30334693
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.
    Frenţescu L; Brownsell E; Hinks J; Malone G; Shaw H; Budişan L; Bulman M; Schwarz M; Pop L; Filip M; Tomescu E; Moşescu S; Popa I; Benga G
    J Cyst Fibros; 2008 Sep; 7(5):423-8. PubMed ID: 18467194
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Interference of P1290 P polymorphism (4002 A--> G) in molecular diagnosis of mucoviscidosis using the cystic fibrosis assay: an example of a diagnostic trap].
    Bienvenu T; Bousquet S; Souville I; Beldjord C
    Ann Biol Clin (Paris); 1999; 57(6):741-2. PubMed ID: 10572229
    [No Abstract]   [Full Text] [Related]  

  • 34. Cystic fibrosis transmembrane regulator gene mutations in Bahrain.
    Eskandarani HA
    J Trop Pediatr; 2002 Dec; 48(6):348-50. PubMed ID: 12521276
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Cystic fibrosis transmembrane conductance regulator gene mutations and glutathione S-transferase null genotypes in cystic fibrosis patients in Brazil.
    Lima CS; Ortega MM; Marson FA; Zulli R; Ribeiro AF; Bertuzzo CS
    J Bras Pneumol; 2012; 38(1):50-6. PubMed ID: 22407040
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A simple, fast and inexpensive method for mutation scanning of CFTR gene.
    Figueredo Lago JE; Armas Cayarga A; González González YJ; Collazo Mesa T
    BMC Med Genet; 2017 May; 18(1):58. PubMed ID: 28545452
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Rapid detection of the delta F508 deletion in cystic fibrosis by allele specific PCR and electrochemiluminescent detection.
    Stern HJ; Carlos RD; Schutzbank TE
    Clin Biochem; 1995 Aug; 28(4):470-3. PubMed ID: 8521604
    [No Abstract]   [Full Text] [Related]  

  • 38. 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]  

  • 39. A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype.
    Hergersberg M; Balakrishnan J; Bettecken T; Chevalier-Porst F; Brägger C; Burger R; Einschenk I; Liechti-Gallati S; Morris M; Schorderet D; Thonney F; Moser H; Malik N
    Hum Genet; 1997 Aug; 100(2):220-3. PubMed ID: 9254853
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 10.