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 *

192 related articles for article (PubMed ID: 8981951)

  • 1. The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
    Rave-Harel N; Kerem E; Nissim-Rafinia M; Madjar I; Goshen R; Augarten A; Rahat A; Hurwitz A; Darvasi A; Kerem B
    Am J Hum Genet; 1997 Jan; 60(1):87-94. PubMed ID: 8981951
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.
    Kerem E; Rave-Harel N; Augarten A; Madgar I; Nissim-Rafinia M; Yahav Y; Goshen R; Bentur L; Rivlin J; Aviram M; Genem A; Chiba-Falek O; Kraemer MR; Simon A; Branski D; Kerem B
    Am J Respir Crit Care Med; 1997 Jun; 155(6):1914-20. PubMed ID: 9196095
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).
    Disset A; Michot C; Harris A; Buratti E; Claustres M; Tuffery-Giraud S
    Hum Mutat; 2005 Jan; 25(1):72-81. PubMed ID: 15580565
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.
    Masvidal L; Igreja S; Ramos MD; Alvarez A; de Gracia J; Ramalho A; Amaral MD; Larriba S; Casals T
    Eur J Hum Genet; 2014 Jun; 22(6):784-91. PubMed ID: 24129438
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.
    de Meeus A; Guittard C; Desgeorges M; Carles S; Demaille J; Claustres M
    J Med Genet; 1998 Jul; 35(7):594-6. PubMed ID: 9678705
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.
    Nissim-Rafinia M; Chiba-Falek O; Sharon G; Boss A; Kerem B
    Hum Mol Genet; 2000 Jul; 9(12):1771-8. PubMed ID: 10915765
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.
    Sharma H; Mavuduru RS; Singh SK; Prasad R
    Mol Hum Reprod; 2014 Sep; 20(9):827-35. PubMed ID: 24958810
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Higher proportion of intact exon 9 CFTR mRNA in nasal epithelium compared with vas deferens.
    Mak V; Jarvi KA; Zielenski J; Durie P; Tsui LC
    Hum Mol Genet; 1997 Nov; 6(12):2099-107. PubMed ID: 9328474
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene.
    Lebo RV; Grody WW
    Genet Test; 2007; 11(1):32-44. PubMed ID: 17394391
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells.
    Teng H; Jorissen M; Van Poppel H; Legius E; Cassiman JJ; Cuppens H
    Hum Mol Genet; 1997 Jan; 6(1):85-90. PubMed ID: 9002674
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
    Chillón M; Casals T; Mercier B; Bassas L; Lissens W; Silber S; Romey MC; Ruiz-Romero J; Verlingue C; Claustres M
    N Engl J Med; 1995 Jun; 332(22):1475-80. PubMed ID: 7739684
    [TBL] [Abstract][Full Text] [Related]  

  • 13. CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.
    Sun W; Anderson B; Redman J; Milunsky A; Buller A; McGinniss MJ; Quan F; Anguiano A; Huang S; Hantash F; Strom C
    Genet Med; 2006 Jun; 8(6):339-45. PubMed ID: 16778595
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Lung disease associated with the IVS8 5T allele of the CFTR gene.
    Noone PG; Pue CA; Zhou Z; Friedman KJ; Wakeling EL; Ganeshananthan M; Simon RH; Silverman LM; Knowles MR
    Am J Respir Crit Care Med; 2000 Nov; 162(5):1919-24. PubMed ID: 11069835
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens.
    Radpour R; Gilani MA; Gourabi H; Dizaj AV; Mollamohamadi S
    Mol Hum Reprod; 2006 Jul; 12(7):469-73. PubMed ID: 16714368
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.
    Zielenski J; Bozon D; Markiewicz D; Aubin G; Simard F; Rommens JM; Tsui LC
    Hum Mol Genet; 1993 Jun; 2(6):683-7. PubMed ID: 7689008
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
    Highsmith WE; Burch LH; Zhou Z; Olsen JC; Boat TE; Spock A; Gorvoy JD; Quittel L; Friedman KJ; Silverman LM
    N Engl J Med; 1994 Oct; 331(15):974-80. PubMed ID: 7521937
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia.
    Bremer S; Hoof T; Wilke M; Busche R; Scholte B; Riordan JR; Maass G; Tümmler B
    Eur J Biochem; 1992 May; 206(1):137-49. PubMed ID: 1375156
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.
    Will K; Dörk T; Stuhrmann M; Meitinger T; Bertele-Harms R; Tümmler B; Schmidtke J
    J Clin Invest; 1994 Apr; 93(4):1852-9. PubMed ID: 7512993
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.