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 *

152 related articles for article (PubMed ID: 9101293)

  • 1. Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis.
    Highsmith WE; Burch LH; Zhou Z; Olsen JC; Strong TV; Smith T; Friedman KJ; Silverman LM; Boucher RC; Collins FS; Knowles MR
    Hum Mutat; 1997; 9(4):332-8. PubMed ID: 9101293
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.
    Stanke F; Ballmann M; Bronsveld I; Dörk T; Gallati S; Laabs U; Derichs N; Ritzka M; Posselt HG; Harms HK; Griese M; Blau H; Mastella G; Bijman J; Veeze H; Tümmler B
    J Med Genet; 2008 Jan; 45(1):47-54. PubMed ID: 18178635
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CFTR protein analysis of splice site mutation 2789+5 G-A.
    van Barneveld A; Stanke F; Claass A; Ballmann M; Tümmler B
    J Cyst Fibros; 2008 Mar; 7(2):165-7. PubMed ID: 17707141
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
    Steiner B; Truninger K; Sanz J; Schaller A; Gallati S
    Hum Mutat; 2004 Aug; 24(2):120-9. PubMed ID: 15241793
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. [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]  

  • 15. CFTR genotypes in patients with normal or borderline sweat chloride levels.
    Feldmann D; Couderc R; Audrezet MP; Ferec C; Bienvenu T; Desgeorges M; Claustres M; Mittre H; Blayau M; Bozon D; Malinge MC; Monnier N; Bonnefont JP; Iron A; Bieth E; Dumur V; Clavel C; Cazeneuve C; Girodon E
    Hum Mutat; 2003 Oct; 22(4):340. PubMed ID: 12955726
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.
    Will K; Dörk T; Stuhrmann M; von der Hardt H; Ellemunter H; Tümmler B; Schmidtke J
    Hum Mutat; 1995; 5(3):210-20. PubMed ID: 7541274
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cystic fibrosis transmembrane conductance regulator ion channel function testing in recurrent acute pancreatitis.
    Segal I; Yaakov Y; Adler SN; Blau H; Broide E; Santo M; Yahav Y; Klar A; Lerner A; Aviram M; Ellis I; Mountford R; Shteyer E; Kerem E; Wilschanski M
    J Clin Gastroenterol; 2008 Aug; 42(7):810-4. PubMed ID: 18360295
    [TBL] [Abstract][Full Text] [Related]  

  • 18. CFTR gene mutations in adults with disseminated bronchiectasis.
    Girodon E; Cazeneuve C; Lebargy F; Chinet T; Costes B; Ghanem N; Martin J; Lemay S; Scheid P; Housset B; Bignon J; Goossens M
    Eur J Hum Genet; 1997; 5(3):149-55. PubMed ID: 9272738
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis].
    Iwańczak F; Smigiel R; Stawarski A; Pawłowicz J; Stembalska A; Mowszet K; Sasiadek M
    Pol Merkur Lekarski; 2005 Feb; 18(104):205-9. PubMed ID: 17877132
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Expression of delta F508 cystic fibrosis transmembrane conductance regulator protein and related chloride transport properties in the gallbladder epithelium from cystic fibrosis patients.
    Dray-Charier N; Paul A; Scoazec JY; Veissière D; Mergey M; Capeau J; Soubrane O; Housset C
    Hepatology; 1999 Jun; 29(6):1624-34. PubMed ID: 10347100
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.