BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 23837941)

  • 1. Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.
    Ramos MD; Trujillano D; Olivar R; Sotillo F; Ossowski S; Manzanares J; Costa J; Gartner S; Oliva C; Quintana E; Gonzalez MI; Vazquez C; Estivill X; Casals T
    Clin Genet; 2014 Jul; 86(1):91-5. PubMed ID: 23837941
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.
    Mutesa L; Azad AK; Verhaeghe C; Segers K; Vanbellinghen JF; Ngendahayo L; Rusingiza EK; Mutwa PR; Rulisa S; Koulischer L; Cassiman JJ; Cuppens H; Bours V
    Chest; 2009 May; 135(5):1233-1242. PubMed ID: 19017867
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes.
    Brennan ML; Pique LM; Schrijver I
    J Cyst Fibros; 2016 Jan; 15(1):52-9. PubMed ID: 25900089
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.
    Bonadia LC; de Lima Marson FA; Ribeiro JD; Paschoal IA; Pereira MC; Ribeiro AF; Bertuzzo CS
    Gene; 2014 May; 540(2):183-90. PubMed ID: 24583165
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.
    Stanke F; Becker T; Cuppens H; Kumar V; Cassiman JJ; Jansen S; Radojkovic D; Siebert B; Yarden J; Ussery DW; Wienker TF; Tümmler B
    Hum Genet; 2006 Apr; 119(3):331-43. PubMed ID: 16463024
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.
    Straniero L; Soldà G; Costantino L; Seia M; Melotti P; Colombo C; Asselta R; Duga S
    J Hum Genet; 2016 Dec; 61(12):977-984. PubMed ID: 27488443
    [TBL] [Abstract][Full Text] [Related]  

  • 7. DNA Methylation Patterns Correlate with the Expression of
    Pierandrei S; Truglio G; Ceci F; Del Porto P; Bruno SM; Castellani S; Conese M; Ascenzioni F; Lucarelli M
    Int J Mol Sci; 2021 Apr; 22(7):. PubMed ID: 33916525
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Downregulation of epithelial sodium channel (ENaC) activity in cystic fibrosis cells by epigenetic targeting.
    Blaconà G; Raso R; Castellani S; Pierandrei S; Del Porto P; Ferraguti G; Ascenzioni F; Conese M; Lucarelli M
    Cell Mol Life Sci; 2022 Apr; 79(5):257. PubMed ID: 35462606
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis.
    Goubau C; Wilschanski M; Skalická V; Lebecque P; Southern KW; Sermet I; Munck A; Derichs N; Middleton PG; Hjelte L; Padoan R; Vasar M; De Boeck K
    Thorax; 2009 Aug; 64(8):683-91. PubMed ID: 19318346
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.
    Salvatore F; Scudiero O; Castaldo G
    Am J Med Genet; 2002 Jul; 111(1):88-95. PubMed ID: 12124743
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.
    Sheridan MB; Fong P; Groman JD; Conrad C; Flume P; Diaz R; Harris C; Knowles M; Cutting GR
    Hum Mol Genet; 2005 Nov; 14(22):3493-8. PubMed ID: 16207733
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis.
    Bienvenu T; Sermet-Gaudelus I; Burgel PR; Hubert D; Crestani B; Bassinet L; Dusser D; Fajac I
    Am J Respir Crit Care Med; 2010 May; 181(10):1078-84. PubMed ID: 20167849
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Does the mutation of the SERPINA1 gene contribute to liver damage and cholestasis in patients with diagnosed cystic fibrosis? preliminary study.
    Więcek S; Woś H; Kordys-Darmolińska B; Sankiewicz-Szkółka M; Grzybowska-Chlebowczyk U
    Dev Period Med; 2015; 19(1):92-7. PubMed ID: 26003074
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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]  

  • 17. Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
    McGinniss MJ; Chen C; Redman JB; Buller A; Quan F; Peng M; Giusti R; Hantash FM; Huang D; Sun W; Strom CM
    Hum Genet; 2005 Dec; 118(3-4):331-8. PubMed ID: 16189704
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
    Azad AK; Rauh R; Vermeulen F; Jaspers M; Korbmacher J; Boissier B; Bassinet L; Fichou Y; des Georges M; Stanke F; De Boeck K; Dupont L; Balascáková M; Hjelte L; Lebecque P; Radojkovic D; Castellani C; Schwartz M; Stuhrmann M; Schwarz M; Skalicka V; de Monestrol I; Girodon E; Férec C; Claustres M; Tümmler B; Cassiman JJ; Korbmacher C; Cuppens H
    Hum Mutat; 2009 Jul; 30(7):1093-103. PubMed ID: 19462466
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
    Alibakhshi R; Kianishirazi R; Cassiman JJ; Zamani M; Cuppens H
    J Cyst Fibros; 2008 Mar; 7(2):102-9. PubMed ID: 17662673
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease.
    Fajac I; Viel M; Gaitch N; Hubert D; Bienvenu T
    Eur Respir J; 2009 Sep; 34(3):772-3. PubMed ID: 19720813
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.