BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

109 related articles for article (PubMed ID: 9452073)

  • 1. A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
    Shackleton S; Harris A
    Hum Mutat; 1998; Suppl 1():S156-7. PubMed ID: 9452073
    [No Abstract]   [Full Text] [Related]  

  • 2. Is the spectrum of mutations in Indian patients with cystic fibrosis different?
    Kabra M; Kabra SK; Ghosh M; Khanna A; Arora S; Menon PS; Verma IC; Wallace A
    Am J Med Genet; 2000 Jul; 93(2):161-3. PubMed ID: 10869121
    [No Abstract]   [Full Text] [Related]  

  • 3. Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
    Casals T; Ramos MD; Giménez J; Nadal M; Nunes V; Estivill X
    Hum Mutat; 1998; Suppl 1():S99-102. PubMed ID: 9452054
    [No Abstract]   [Full Text] [Related]  

  • 4. A new polymorphism in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene.
    Petreska L; Koceva S; Gordova-Muratovska A; Efremov GD
    Hum Genet; 1995 Apr; 95(4):465-6. PubMed ID: 7535746
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the Cystic Fibrosis Transmembrane Conductance Regulator gene.
    Chevalier-Porst F; Bonardot AM; Chazalette JP; Mathieu M; Bozon D
    Hum Mutat; 1998; Suppl 1():S291-4. PubMed ID: 9452112
    [No Abstract]   [Full Text] [Related]  

  • 6. Genetic variation within the ovine cystic fibrosis transmembrane conductance regulator gene.
    Tebbutt SJ; Lakeman MB; Wilson-Wheeler JC; Hill DF
    Mutat Res; 1998 May; 382(3-4):93-8. PubMed ID: 9691989
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
    Petreska L; Plaseska D; Koceva S; Stavljenić-Rukavina A; Efremov GD
    Hum Mutat; 1996; 7(4):374-5. PubMed ID: 8723693
    [No Abstract]   [Full Text] [Related]  

  • 8. A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene.
    Feldmann D; Laroze F; Troadec C; Clement A; Tournier G; Couderc R
    Hum Mutat; 2001 Apr; 17(4):356. PubMed ID: 11295849
    [No Abstract]   [Full Text] [Related]  

  • 9. Mutations located in exon 24 of the CFTR gene are associated with a mild cystic fibrosis phenotype.
    Bienvenu T; Viel M; Leroy C; Van Esch H; Fajac I; Dusser D; Hubert D
    Clin Genet; 2003 Sep; 64(3):266-8. PubMed ID: 12919146
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.
    Ramalho AS; Beck S; Penque D; Gonska T; Seydewitz HH; Mall M; Amaral MD
    J Med Genet; 2003 Jul; 40(7):e88. PubMed ID: 12843337
    [No Abstract]   [Full Text] [Related]  

  • 12. Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis.
    Schrijver I; Karnsakul W; Limwongse C; Ramalingam S; Sankaran R; Gardner P; Moss R
    Am J Med Genet A; 2005 Feb; 133A(1):103-5. PubMed ID: 15744829
    [No Abstract]   [Full Text] [Related]  

  • 13. Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.
    Feldmann D; Sardet A; Cougoureux E; Plouvier E; Fontaine JL; Tournier G; Aymard P
    Hum Mutat; 1998; Suppl 1():S78-80. PubMed ID: 9452048
    [No Abstract]   [Full Text] [Related]  

  • 14. A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Wagner K; Schneditz P; Rosenkranz W
    Hum Mutat; 1996; 7(2):183. PubMed ID: 8829644
    [No Abstract]   [Full Text] [Related]  

  • 15. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
    Hantash FM; Redman JB; Starn K; Anderson B; Buller A; McGinniss MJ; Quan F; Peng M; Sun W; Strom CM
    Hum Genet; 2006 Mar; 119(1-2):126-36. PubMed ID: 16362824
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The 3120 +1G-->A splicing mutation in CFTR is common in Brazilian cystic fibrosis patients.
    Cabello GM; Cabello EH JL; Fernande O; Harris A
    Hum Biol; 2001 Jun; 73(3):403-9. PubMed ID: 11459421
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia.
    Teder M; Klaassen T; Oitmaa E; Kaasik K; Metspalu A
    J Med Genet; 2000 Aug; 37(8):E16. PubMed ID: 10922396
    [No Abstract]   [Full Text] [Related]  

  • 18. Novel human pathological mutations. Gene symbol: CFTR. Disease: cystic fibrosis.
    Farra C; Medawar R; Cabet F; Mroueh S; Souaid M; Hourani H; Mounsef C; Ashkar H; Awwad J
    Hum Genet; 2007 Dec; 122(5):553. PubMed ID: 18383592
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.
    Cheadle JP; Meredith AL; al-Jader LN
    Hum Mol Genet; 1992 May; 1(2):123-5. PubMed ID: 1284468
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.