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Journal Abstract Search

165 related items for PubMed ID: 20051989

  • 41. Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings.
    Bronsveld I, Mekus F, Bijman J, Ballmann M, de Jonge HR, Laabs U, Halley DJ, Ellemunter H, Mastella G, Thomas S, Veeze HJ, Tümmler B.
    J Clin Invest; 2001 Dec; 108(11):1705-15. PubMed ID: 11733566
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  • 43. Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients.
    Melotti P, Mafficini A, Lebecque P, Ortombina M, Leal T, Pintani E, Pepermans X, Sorio C, Assael BM.
    PLoS One; 2014 Dec; 9(12):e114274. PubMed ID: 25503271
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  • 44. CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.
    Persu A, Devuyst O, Lannoy N, Materne R, Brosnahan G, Gabow PA, Pirson Y, Verellen-Dumoulin C.
    J Am Soc Nephrol; 2000 Dec; 11(12):2285-2296. PubMed ID: 11095651
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  • 47. Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
    Terlizzi V, Castaldo G, Salvatore D, Lucarelli M, Raia V, Angioni A, Carnovale V, Cirilli N, Casciaro R, Colombo C, Di Lullo AM, Elce A, Iacotucci P, Comegna M, Scorza M, Lucidi V, Perfetti A, Cimino R, Quattrucci S, Seia M, Sofia VM, Zarrilli F, Amato F.
    J Med Genet; 2017 Apr; 54(4):224-235. PubMed ID: 27738188
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  • 48. 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 08; 347(6):401-7. PubMed ID: 12167682
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  • 50. Assessment of parent-of-origin effects in linkage analysis of quantitative traits.
    Hanson RL, Kobes S, Lindsay RS, Knowler WC.
    Am J Hum Genet; 2001 Apr 08; 68(4):951-62. PubMed ID: 11254452
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  • 55. Efficacy and Safety of CFTR Corrector and Potentiator Combination Therapy in Patients with Cystic Fibrosis for the F508del-CFTR Homozygous Mutation: A Systematic Review and Meta-analysis.
    Wu HX, Zhu M, Xiong XF, Wei J, Zhuo KQ, Cheng DY.
    Adv Ther; 2019 Feb 08; 36(2):451-461. PubMed ID: 30554331
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  • 56. p.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil.
    Vidigal PV, Reis FJ, Boson WL, De Marco LA, Brasileiro-Filho G.
    Braz J Med Biol Res; 2008 Aug 08; 41(8):643-7. PubMed ID: 18797695
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  • 57. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan JR, Rommens J, Tsui LC.
    Genomics; 1991 May 08; 10(1):214-28. PubMed ID: 1710598
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  • 59. [Expression of the cystic fibrosis gene in the lungs].
    Heijerman HG, de Jonge HR.
    Ned Tijdschr Geneeskd; 2004 Apr 24; 148(17):816-9. PubMed ID: 15141646
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  • 60. Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.
    Kerschner JL, Ghosh S, Paranjapye A, Cosme WR, Audrézet MP, Nakakuki M, Ishiguro H, Férec C, Rommens J, Harris A.
    J Mol Diagn; 2019 Jan 24; 21(1):70-80. PubMed ID: 30296588
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