BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 22310382)

  • 1. A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene.
    Diana A; Tesse R; Polizzi AM; Santostasi T; Manca A; Leonetti G; Seia M; Porcaro L; Cavallo L
    Gene; 2012 Apr; 497(1):90-2. PubMed ID: 22310382
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Non-classic cystic fibrosis associated with D1152H CFTR mutation.
    Burgel PR; Fajac I; Hubert D; Grenet D; Stremler N; Roussey M; Siret D; Languepin J; Mely L; Fanton A; Labbé A; Domblides P; Vic P; Dagorne M; Reynaud-Gaubert M; Counil F; Varaigne F; Bienvenu T; Bellis G; Dusser D
    Clin Genet; 2010 Apr; 77(4):355-64. PubMed ID: 19843100
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.
    Ko JM; Kim GH; Kim KM; Hong SJ; Yoo HW
    J Korean Med Sci; 2008 Oct; 23(5):912-5. PubMed ID: 18955805
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.
    Schneider M; Hirt C; Casaulta C; Barben J; Spinas R; Bühlmann U; Spalinger J; Schwizer B; Chevalier-Porst F; Gallati S
    Clin Genet; 2007 Jul; 72(1):30-8. PubMed ID: 17594397
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Cystic fibrosis mutations with widely variable phenotype: the D1152H example.
    Mussaffi H; Prais D; Mei-Zahav M; Blau H
    Pediatr Pulmonol; 2006 Mar; 41(3):250-4. PubMed ID: 16429425
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype.
    Yalçin E; Ozçelik U; Yilmaz E; Doğru D; Kiper N; Ferec C
    Turk J Pediatr; 2008; 50(4):383-5. PubMed ID: 19014055
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis.
    Peleg L; Karpati M; Bronstein S; Berkenstadt M; Frydman M; Yonath H; Pras E
    J Med Screen; 2011; 18(4):169-72. PubMed ID: 22156145
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens.
    Grangeia A; Carvalho F; Fernandes S; Silva J; Sousa M; Barros A
    Fertil Steril; 2005 Feb; 83(2):448-51. PubMed ID: 15705389
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.
    Brugnon F; Bilan F; Heraud MC; Grizard G; Janny L; Creveaux I
    Fertil Steril; 2008 Nov; 90(5):2004.e23-6. PubMed ID: 18703181
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients.
    Alibakhshi R; Zamani M
    Iran J Allergy Asthma Immunol; 2006 Mar; 5(1):3-8. PubMed ID: 17242497
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.
    Weiss FU; Simon P; Bogdanova N; Mayerle J; Dworniczak B; Horst J; Lerch MM
    Gut; 2005 Oct; 54(10):1456-60. PubMed ID: 15987793
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical expression of patients with the D1152H CFTR mutation.
    Terlizzi V; Carnovale V; Castaldo G; Castellani C; Cirilli N; Colombo C; Corti F; Cresta F; D'Adda A; Lucarelli M; Lucidi V; Macchiaroli A; Madarena E; Padoan R; Quattrucci S; Salvatore D; Zarrilli F; Raia V
    J Cyst Fibros; 2015 Jul; 14(4):447-52. PubMed ID: 25583415
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.
    Audrézet MP; Chen JM; Raguénès O; Chuzhanova N; Giteau K; Le Maréchal C; Quéré I; Cooper DN; Férec C
    Hum Mutat; 2004 Apr; 23(4):343-57. PubMed ID: 15024729
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [Relation between gene mutations and pancreatic exocrine function in patients with cystic fibrosis].
    Radivojević D; Guć-Sćekić M; Djurisić M; Lalić T; Minić P; Kanavakis E
    Srp Arh Celok Lek; 2001; 129 Suppl 1():6-9. PubMed ID: 15637983
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene.
    Tang S; Moonnumakal SP; Stevens B; Douglas G; Mason S; Schmitt ES; Eng CM; Katz M; Fang P
    J Cyst Fibros; 2013 May; 12(3):290-4. PubMed ID: 22998936
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.
    Dörk T; Will K; Grade K; Krawczak M; Tümmler B
    Hum Mutat; 1994; 4(1):65-70. PubMed ID: 7524915
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism.
    D'Apice MR; Gambardella S; Russo S; Lucidi V; Nardone AM; Pietropolli A; Novelli G
    Prenat Diagn; 2004 Dec; 24(12):981-3. PubMed ID: 15614862
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
    Chu CS; Trapnell BC; Curristin SM; Cutting GR; Crystal RG
    J Clin Invest; 1992 Sep; 90(3):785-90. PubMed ID: 1381723
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.