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Journal Abstract Search

456 related items for PubMed ID: 27499327

  • 1. Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
    Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M.
    Sci Rep; 2016 Aug 08; 6():30850. PubMed ID: 27499327
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  • 2. Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
    Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T.
    JAMA; 2022 Dec 27; 328(24):2412-2421. PubMed ID: 36573973
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  • 3. Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.
    Ciantar N, Zahra G, Delicata J, Sammut F, Calleja-Agius J, Farrugia E, Said E.
    Eur J Med Genet; 2024 Jun 27; 69():104934. PubMed ID: 38537868
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  • 4. 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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  • 6. Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants.
    Raj S, Singh RG, Das P.
    Mutat Res; 2020 Jul 04; 821():111718. PubMed ID: 32823016
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  • 7. Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.
    Pandita S, Ramachandran V, Balakrishnan P, Rolfs A, Brandau O, Eichler S, Bhalla AK, Khullar D, Amitabh V, Ramanarayanan S, Kher V, Verma J, Kohli S, Saxena R, Verma IC.
    J Hum Genet; 2019 May 04; 64(5):409-419. PubMed ID: 30816285
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  • 9. 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 04; 24(5):504-510. PubMed ID: 29633482
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  • 10. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
    Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C.
    Hum Mutat; 2012 Aug 04; 33(8):1239-50. PubMed ID: 22508176
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  • 11. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
    Hoefele J, Mayer K, Scholz M, Klein HG.
    Nephrol Dial Transplant; 2011 Jul 04; 26(7):2181-8. PubMed ID: 21115670
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  • 12. Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
    Xu D, Ma Y, Gu X, Bian R, Lu Y, Xing X, Mei C.
    Kidney Blood Press Res; 2018 Jul 04; 43(2):297-309. PubMed ID: 29529603
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  • 15. Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease.
    Ranjzad F, Tara A, Basiri A, Aghdami N, Moghadasali R.
    Clin Lab; 2017 Jul 01; 63(7):1261-1267. PubMed ID: 28792715
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  • 17. Exome sequencing of Saudi Arabian patients with ADPKD.
    Al-Muhanna FA, Al-Rubaish AM, Vatte C, Mohiuddin SS, Cyrus C, Ahmad A, Shakil Akhtar M, Albezra MA, Alali RA, Almuhanna AF, Huang K, Wang L, Al-Kuwaiti F, Elsalamouni TSA, Al Hwiesh A, Huang X, Keating B, Li J, Lanktree MB, Al-Ali AK.
    Ren Fail; 2019 Nov 01; 41(1):842-849. PubMed ID: 31488014
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  • 18. 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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