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Journal Abstract Search

290 related items for PubMed ID: 19158373

  • 1. 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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  • 2. 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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  • 3. Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.
    Kinoshita M, Higashihara E, Kawano H, Higashiyama R, Koga D, Fukui T, Gondo N, Oka T, Kawahara K, Rigo K, Hague T, Katsuragi K, Sudo K, Takeshi M, Horie S, Nutahara K.
    PLoS One; 2016 Sep 10; 11(11):e0166288. PubMed ID: 27835667
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  • 4. 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 10; 24(5):504-510. PubMed ID: 29633482
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  • 5. 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 May 10; 43(2):297-309. PubMed ID: 29529603
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  • 6. 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 10; 85(2):383-92. PubMed ID: 23760289
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  • 9. 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 10; 69():104934. PubMed ID: 38537868
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  • 10. Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease.
    Tan YC, Blumenfeld J, Michaeel A, Donahue S, Balina M, Parker T, Levine D, Rennert H.
    Clin Genet; 2011 Sep 10; 80(3):287-92. PubMed ID: 20950398
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  • 12. Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
    Tan YC, Blumenfeld JD, Anghel R, Donahue S, Belenkaya R, Balina M, Parker T, Levine D, Leonard DG, Rennert H.
    Hum Mutat; 2009 Feb 10; 30(2):264-73. PubMed ID: 18837007
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  • 13. 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 10; 41(1):842-849. PubMed ID: 31488014
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  • 14. 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 10; 26(7):2181-8. PubMed ID: 21115670
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  • 15. New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.
    Stekrova J, Reiterova J, Svobodova S, Kebrdlova V, Lnenicka P, Merta M, Viklicky O, Kohoutova M.
    BMC Med Genet; 2009 Aug 17; 10():78. PubMed ID: 19686598
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  • 18. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
    Vouk K, Strmecki L, Stekrova J, Reiterova J, Bidovec M, Hudler P, Kenig A, Jereb S, Zupanic-Pajnic I, Balazic J, Haarpaintner G, Leskovar B, Adamlje A, Skoflic A, Dovc R, Hojs R, Komel R.
    BMC Med Genet; 2006 Jan 23; 7():6. PubMed ID: 16430766
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  • 19. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
    Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y.
    J Am Soc Nephrol; 2003 May 23; 14(5):1164-74. PubMed ID: 12707387
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  • 20. Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
    Suzuki Y, Katayama K, Saiki R, Hirabayashi Y, Murata T, Ishikawa E, Ito M, Dohi K.
    Genes (Basel); 2023 Feb 09; 14(2):. PubMed ID: 36833371
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