BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 7509231)

  • 1. Identification of a new splice site mutation (3849 + 1G-->A) in the intron 19 of the CFTR gene.
    Greil I; Wagner K; Rosenkranz W
    Hum Mol Genet; 1993 Dec; 2(12):2171-2. PubMed ID: 7509231
    [No Abstract]   [Full Text] [Related]  

  • 2. A donor splice mutation (405 + 1 G-->A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA.
    Dörk T; Will K; Demmer A; Tümmler B
    Hum Mol Genet; 1993 Nov; 2(11):1965-6. PubMed ID: 7506605
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. Alternative splicing of the first nucleotide binding fold of CFTR in mouse testes is associated with specific stages of spermatogenesis.
    Delaney SJ; Koopman P; Lovelock PK; Wainwright BJ
    Genomics; 1994 Apr; 20(3):517-8. PubMed ID: 7518412
    [No Abstract]   [Full Text] [Related]  

  • 5. Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.
    Bienvenu T; Hubert D; Fonknechten N; Dusser D; Kaplan JC; Beldjord C
    Hum Genet; 1994 Jul; 94(1):65-8. PubMed ID: 7518409
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Alternative splicing of intron 23 of the human cystic fibrosis transmembrane conductance regulator gene resulting in a novel exon and transcript coding for a shortened intracytoplasmic C terminus.
    Yoshimura K; Chu CS; Crystal RG
    J Biol Chem; 1993 Jan; 268(1):686-90. PubMed ID: 7678008
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent.
    Marigo C; Bombieri C; Bisceglia L; Zelante L; Gasparini P; Pignatti PF
    Mol Cell Probes; 1995 Apr; 9(2):139-41. PubMed ID: 7541511
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Severe splice site mutation preceding exon 9 of the CFTR gene.
    Dörk T; Fislage R; Rappen U; Tümmler B
    Hum Mol Genet; 1993 Aug; 2(8):1313-4. PubMed ID: 7691349
    [No Abstract]   [Full Text] [Related]  

  • 9. A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
    Schaedel C; Kristoffersson AC; Kornfält R; Holmberg L
    Hum Mol Genet; 1994 Jun; 3(6):1001-2. PubMed ID: 7524909
    [No Abstract]   [Full Text] [Related]  

  • 10. Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.
    Bozon D; Zielenski J; Rininsland F; Tsui LC
    Hum Mutat; 1994; 3(3):330-2. PubMed ID: 7517268
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing.
    Savov A; Mercier B; Kalaydjieva L; Férec C
    Hum Mol Genet; 1994 Jan; 3(1):57-60. PubMed ID: 7512860
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
    Chillón M; Dörk T; Casals T; Giménez J; Fonknechten N; Will K; Ramos D; Nunes V; Estivill X
    Am J Hum Genet; 1995 Mar; 56(3):623-9. PubMed ID: 7534040
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Zielenski J; Rozmahel R; Bozon D; Kerem B; Grzelczak Z; Riordan JR; Rommens J; Tsui LC
    Genomics; 1991 May; 10(1):214-28. PubMed ID: 1710598
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients.
    Costantino L; Claut L; Paracchini V; Coviello DA; Colombo C; Porcaro L; Capasso P; Zanardelli M; Pizzamiglio G; Degiorgio D; Seia M
    J Cyst Fibros; 2010 Dec; 9(6):411-8. PubMed ID: 20875776
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
    Chu CS; Trapnell BC; Curristin S; Cutting GR; Crystal RG
    Nat Genet; 1993 Feb; 3(2):151-6. PubMed ID: 7684646
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.
    Chillón M; Casals T; Nunes V; Giménez J; Estivill X
    Hum Mol Genet; 1993 Aug; 2(8):1317-8. PubMed ID: 7691350
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.