BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 19728845)

  • 1. Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene.
    Mari C; Bruno F; Galbiati S; Torri A; Lombardo F; Seia M; Ferrari M; Restagno G; Cremonesi L
    Clin Chem Lab Med; 2009; 47(9):1051-4. PubMed ID: 19728845
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.
    Casals T; Gimenez J; Ramos MD; Nunes V; Estivill X
    Prenat Diagn; 1996 Mar; 16(3):215-22. PubMed ID: 8710774
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening.
    Perone C; Medeiros GS; del Castillo DM; de Aguiar MJ; Januário JN
    Braz J Med Biol Res; 2010 Feb; 43(2):134-8. PubMed ID: 20098842
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.
    Furgeri DT; Marson FAL; Correia CAA; Ribeiro JD; Bertuzzo CS
    Gene; 2018 Jan; 641():137-143. PubMed ID: 29054758
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.
    Bernardino AL; Ferri A; Passos-Bueno MR; Kim CE; Nakaie CM; Gomes CE; Damaceno N; Zatz M
    Genet Test; 2000; 4(1):69-74. PubMed ID: 10794365
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 1(1):32-8. PubMed ID: 14963811
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Analysis of cystic fibrosis gene mutations and associated haplotypes in the Croatian population.
    Knezević J; Tanacković G; Matijević T; Barisić I; Pavelić J
    Genet Test; 2007; 11(2):133-8. PubMed ID: 17627383
    [TBL] [Abstract][Full Text] [Related]  

  • 10. First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations.
    Jalalirad M; Houshmand M; Mirfakhraie R; Goharbari MH; Mirzajani F
    J Trop Pediatr; 2004 Dec; 50(6):359-61. PubMed ID: 15537723
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Genetic testing for cystic fibrosis: evaluation of the Elucigene CF20 kit in blood and buccal cells].
    Feldmann D; Guittard C; Georges MD; Houdayer C; Magnier C; Claustres M; Couderc R
    Ann Biol Clin (Paris); 2001; 59(3):277-83. PubMed ID: 11397675
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.
    Kambouris M; Banjar H; Moggari I; Nazer H; Al-Hamed M; Meyer BF
    Eur J Pediatr; 2000 May; 159(5):303-9. PubMed ID: 10834512
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.
    Le Maréchal C; Audrézet MP; Quéré I; Raguénès O; Langonné S; Férec C
    Hum Genet; 2001 Apr; 108(4):290-8. PubMed ID: 11379874
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia.
    Fredj SH; Messaoud T; Templin C; des Georges M; Fattoum S; Claustres M
    Genet Test Mol Biomarkers; 2009 Oct; 13(5):577-81. PubMed ID: 19715466
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A haplotype framework for cystic fibrosis mutations in Iran.
    Elahi E; Khodadad A; Kupershmidt I; Ghasemi F; Alinasab B; Naghizadeh R; Eason RG; Amini M; Esmaili M; Esmaeili Dooki MR; Sanati MH; Davis RW; Ronaghi M; Thorstenson YR
    J Mol Diagn; 2006 Feb; 8(1):119-27. PubMed ID: 16436643
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Natural history of pancreatitis associated with cystic fibrosis gene mutations.
    Frulloni L; Castellani C; Bovo P; Vaona B; Calore B; Liani C; Mastella G; Cavallini G
    Dig Liver Dis; 2003 Mar; 35(3):179-85. PubMed ID: 12779072
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 24(12):981-3. PubMed ID: 15614862
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population.
    Castaldo G; Polizzi A; Tomaiuolo R; Cazeneuve C; Girodon E; Santostasi T; Salvatore D; Raia V; Rigillo N; Goossens M; Salvatore F
    Ann Hum Genet; 2005 Jan; 69(Pt 1):15-24. PubMed ID: 15638824
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of the linkage of mutations causing cystic fibrosis to different alleles of a tetranucleotide repeat in intron 6a of the CFTR gene.
    Potapova OYu ; Voronina OV; Gaitskhoki VS; Bogacheva EV; Uembitskaya TE; Kuprina EA; Kapranov NI; Berlin YuA ; Schwartz EI
    Biochem Med Metab Biol; 1994 Apr; 51(2):185-7. PubMed ID: 7519028
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Multiplex PCR combining deltaF508 mutation and intragenic microsatellites of the CFTR gene for pre-implantation genetic diagnosis (PGD) of cystic fibrosis.
    Moutou C; Gardes N; Viville S
    Eur J Hum Genet; 2002 Apr; 10(4):231-8. PubMed ID: 12032730
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.