BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

229 related articles for article (PubMed ID: 1380689)

  • 1. Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations.
    Liechti-Gallati S; Bonsall I; Malik N; Schneider V; Kraemer LG; Ruedeberg A; Moser H; Kraemer R
    Pediatr Res; 1992 Aug; 32(2):175-8. PubMed ID: 1380689
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Correlation between phenotype and genotype in a group of patients with cystic fibrosis].
    Navarro H; Kolbach M; Repetto G; Guiraldes E; Harris P; Foradori A; Poggi H; Sánchez I
    Rev Med Chil; 2002 May; 130(5):475-81. PubMed ID: 12143267
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).
    Kerem E; Corey M; Kerem BS; Rommens J; Markiewicz D; Levison H; Tsui LC; Durie P
    N Engl J Med; 1990 Nov; 323(22):1517-22. PubMed ID: 2233932
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A cystic fibrosis mutation associated with mild lung disease.
    Gan KH; Veeze HJ; van den Ouweland AM; Halley DJ; Scheffer H; van der Hout A; Overbeek SE; de Jongste JC; Bakker W; Heijerman HG
    N Engl J Med; 1995 Jul; 333(2):95-9. PubMed ID: 7539891
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.
    Dörk T; Wulbrand U; Richter T; Neumann T; Wolfes H; Wulf B; Maass G; Tümmler B
    Hum Genet; 1991 Aug; 87(4):441-6. PubMed ID: 1715308
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.
    Hamosh A; Trapnell BC; Zeitlin PL; Montrose-Rafizadeh C; Rosenstein BJ; Crystal RG; Cutting GR
    J Clin Invest; 1991 Dec; 88(6):1880-5. PubMed ID: 1721624
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [A molecular study of the delta-F508 mutation and genetic analysis of a sample of cystic fibrosis patients].
    Orozco L; Lezana JL; Chávez M; Valdez H; Moreno M; Carnevale A
    Bol Med Hosp Infant Mex; 1993 Jul; 50(7):457-62. PubMed ID: 7689846
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Delta F508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population.
    Lester LA; Kraut J; Lloyd-Still J; Karrison T; Mott C; Billstrand C; Lemke A; Ober C
    Pediatrics; 1994 Jan; 93(1):114-8. PubMed ID: 7505422
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene.
    Greil I; Wagner K; Eber E; Zach M; Rosenkranz W
    Wien Klin Wochenschr; 1995; 107(15):464-9. PubMed ID: 7545856
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.
    Nunes V; Casals T; Gaona A; Antiñolo G; Ferrer-Calvete J; Pérez-Frias J; Tardío E; Molano J; Estivill X
    Hum Mutat; 1992; 1(5):375-9. PubMed ID: 1284539
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Correlation between genotype and phenotype in patients with cystic fibrosis.
    Cystic Fibrosis Genotype-Phenotype Consortium
    N Engl J Med; 1993 Oct; 329(18):1308-13. PubMed ID: 8166795
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center.
    Traystman MD; Schulte N; Colombo JL; Sammut PH; Reilly P; Patel C; Acquazzino D; Simanek B; Anderson R; Kimberling WJ
    Hum Mutat; 1993; 2(1):7-15. PubMed ID: 7682884
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The CFTR 3849+10kbC->T and 2789+5G->A alleles are associated with a mild CF phenotype.
    Duguépéroux I; De Braekeleer M
    Eur Respir J; 2005 Mar; 25(3):468-73. PubMed ID: 15738290
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Molecular-genetic analysis of certain mutations of the "cystic fibrosis gene" in Moldavia. Characteristics of molecular markers and their linkage with various mutations].
    Gimbovskaia SD; Kalinin VN; Ivashchenko TE; Baranov VS
    Genetika; 1994 Dec; 30(12):1616-20. PubMed ID: 7534245
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cystic fibrosis transmembrane conductance regulator (CFTR)-mediated residual chloride secretion does not protect against early chronic Pseudomonas aeruginosa infection in F508del homozygous cystic fibrosis patients.
    Derichs N; Mekus F; Bronsveld I; Bijman J; Veeze HJ; von der Hardt H; Tummler B; Ballmann M
    Pediatr Res; 2004 Jan; 55(1):69-75. PubMed ID: 14605249
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.
    Hamosh A; King TM; Rosenstein BJ; Corey M; Levison H; Durie P; Tsui LC; McIntosh I; Keston M; Brock DJ
    Am J Hum Genet; 1992 Aug; 51(2):245-50. PubMed ID: 1379413
    [TBL] [Abstract][Full Text] [Related]  

  • 17. High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and deltaF508.
    Schibler A; Bolt I; Gallati S; Schöni MH; Kraemer R
    Eur Respir J; 2001 Jun; 17(6):1181-6. PubMed ID: 11491162
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Characteristics and specificities of cystic fibrosis in adults: evolutive disease of childhood or recently diagnosed disease?].
    Hubert D; Rivoal V; Desmazes-Dufeu N; Lacronique J; Maurer C; Richaud-Thiriez B; Dusser D
    Rev Mal Respir; 2000 Aug; 17(3 Pt 2):749-57. PubMed ID: 11076385
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis.
    Kubesch P; Dörk T; Wulbrand U; Kälin N; Neumann T; Wulf B; Geerlings H; Weissbrodt H; von der Hardt H; Tümmler B
    Lancet; 1993 Jan; 341(8839):189-93. PubMed ID: 7678316
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cystic fibrosis: frequency of delta f508 and g542x mutations in Cordoba, Argentina.
    Saleh MC; Botelli A; Melano de Botelli M; Rezzonico CA; Argaraña CE
    Medicina (B Aires); 1996; 56(1):14-6. PubMed ID: 8734924
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.