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Journal Abstract Search

235 related items for PubMed ID: 23760289

  • 1. Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
    Paul BM, Consugar MB, Ryan Lee M, Sundsbak JL, Heyer CM, Rossetti S, Kubly VJ, Hopp K, Torres VE, Coto E, Clementi M, Bogdanova N, de Almeida E, Bichet DG, Harris PC.
    Kidney Int; 2014 Feb; 85(2):383-92. PubMed ID: 23760289
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  • 3. Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.
    Wang K, Zhao X, Chan S, Cil O, He N, Song X, Paterson AD, Pei Y.
    Clin J Am Soc Nephrol; 2009 Feb; 4(2):442-9. PubMed ID: 19158373
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  • 6. Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.
    Deltas CC, Christodoulou K, Tjakouri C, Pierides A.
    Clin Genet; 1996 Jul; 50(1):10-8. PubMed ID: 8891380
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  • 7. Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
    Zhang M, Liu S, Xia X, Cui Y, Li X.
    Nephrology (Carlton); 2019 May; 24(5):504-510. PubMed ID: 29633482
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  • 10. Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.
    Elisakova V, Merta M, Reiterova J, Baxova A, Kotlas J, Hirschfeldova K, Obeidova L, Tesar V, Stekrova J.
    BMC Nephrol; 2018 Jul 04; 19(1):163. PubMed ID: 29973168
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  • 12. Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.
    Abdelwahed M, Hilbert P, Ahmed A, Mahfoudh H, Bouomrani S, Dey M, Hachicha J, Kamoun H, Keskes-Ammar L, Belguith N.
    Gene; 2018 Sep 10; 671():28-35. PubMed ID: 29860066
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  • 13. A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease.
    Kurashige M, Hanaoka K, Imamura M, Udagawa T, Kawaguchi Y, Hasegawa T, Hosoya T, Yokoo T, Maeda S.
    Clin Genet; 2015 Mar 10; 87(3):266-72. PubMed ID: 24611717
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  • 17. Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease.
    Arora V, Bijarnia-Mahay S, Tiwari V, Bansal S, Gupta P, Setia N, Puri RD, Verma IC.
    Eur J Med Genet; 2020 Mar 10; 63(3):103734. PubMed ID: 31349084
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