These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 21317048)

  • 1. Splicing defects in the CFTR gene: minigene analysis of two mutations, 1811+1G>C and 1898+3A>G.
    Dujardin G; Commandeur D; Le Jossic-Corcos C; Ferec C; Corcos L
    J Cyst Fibros; 2011 May; 10(3):212-6. PubMed ID: 21317048
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
    Tzetis M; Efthymiadou A; Doudounakis S; Kanavakis E
    Hum Genet; 2001 Dec; 109(6):592-601. PubMed ID: 11810271
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.
    Igreja S; Clarke LA; Botelho HM; Marques L; Amaral MD
    Hum Mutat; 2016 Feb; 37(2):209-15. PubMed ID: 26553470
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
    Beck S; Penque D; Garcia S; Gomes A; Farinha C; Mata L; Gulbenkian S; Gil-Ferreira K; Duarte A; Pacheco P; Barreto C; Lopes B; Cavaco J; Lavinha J; Amaral MD
    Hum Mutat; 1999; 14(2):133-44. PubMed ID: 10425036
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation.
    Chiba-Falek O; Kerem E; Shoshani T; Aviram M; Augarten A; Bentur L; Tal A; Tullis E; Rahat A; Kerem B
    Genomics; 1998 Nov; 53(3):276-83. PubMed ID: 9799593
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing.
    Mansfield SG; Kole J; Puttaraju M; Yang CC; Garcia-Blanco MA; Cohn JA; Mitchell LG
    Gene Ther; 2000 Nov; 7(22):1885-95. PubMed ID: 11127576
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.
    Crawford J; Labrinidis A; Carey WF; Nelson PV; Harvey JS; Morris CP
    Hum Mutat; 1995; 5(1):101-2. PubMed ID: 7537147
    [No Abstract]   [Full Text] [Related]  

  • 8. Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry.
    Schaller A; von Känel T; Gehr B; Sanz J; Gallati S
    Eur J Hum Genet; 2007 Jan; 15(1):53-61. PubMed ID: 17024213
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.
    Scott A; Petrykowska HM; Hefferon T; Gotea V; Elnitski L
    J Cyst Fibros; 2012 Dec; 11(6):511-7. PubMed ID: 22591852
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.
    Brugnon F; Bilan F; Heraud MC; Grizard G; Janny L; Creveaux I
    Fertil Steril; 2008 Nov; 90(5):2004.e23-6. PubMed ID: 18703181
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Strong TV; Smit LS; Nasr S; Wood DL; Cole JL; Iannuzzi MC; Stern RC; Collins FS
    Hum Mutat; 1992; 1(5):380-7. PubMed ID: 1284540
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. Online.
    Suwanjutha S; Huang NN; Wattanasirichaigoon D; Sura T; Harris A; Macek M
    Hum Mutat; 1998; 12(5):361. PubMed ID: 10671057
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].
    Schwartz M
    Ugeskr Laeger; 2003 Feb; 165(9):912-6. PubMed ID: 12661515
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two new mutations (1811 + 1G-->C and Y569C) identified in the CFTR gene in patients of Macedonian and Croatian origin.
    Petreska L; Plaseska D; Koceva S; Stavljenić-Rukavina A; Efremov GD
    Acta Med Croatica; 1996; 50(3):125-7. PubMed ID: 8890528
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene.
    Costantino L; Rusconi D; Soldà G; Seia M; Paracchini V; Porcaro L; Asselta R; Colombo C; Duga S
    Am J Respir Cell Mol Biol; 2013 May; 48(5):619-25. PubMed ID: 23349053
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.
    Giorgi G; Casarin A; Trevisson E; Donà M; Cassina M; Graziano C; Picci L; Clementi M; Salviati L
    Clin Chem Lab Med; 2015 Oct; 53(11):1719-23. PubMed ID: 25781545
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
    Groman JD; Meyer ME; Wilmott RW; Zeitlin PL; Cutting GR
    N Engl J Med; 2002 Aug; 347(6):401-7. PubMed ID: 12167682
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.
    Viel M; Leroy C; Des Georges M; Claustres M; Bienvenu T
    Eur J Hum Genet; 2005 Feb; 13(2):136-8. PubMed ID: 15562283
    [No Abstract]   [Full Text] [Related]  

  • 19. [Functional characterization of naturally occurring CFTR mutants: interest for cystic fibrosis].
    Romey MC
    Ann Biol Clin (Paris); 2006; 64(5):429-37. PubMed ID: 17040873
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.
    Dayangaç D; Erdem H; Yilmaz E; Sahin A; Sohn C; Ozgüç M; Dörk T
    Hum Reprod; 2004 May; 19(5):1094-100. PubMed ID: 15070876
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.