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Journal Abstract Search

322 related items for PubMed ID: 10413889

  • 1. [Autosomal dominant polycystic kidney disease: detection of a new mutation in the PKD1 gene].
    Iglesias DM, Manrique M, Arrizurieta EE, Kornblihtt AR, Herrera M, Martín RS, Bernath VA.
    Medicina (B Aires); 1999; 59(2):133-7. PubMed ID: 10413889
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  • 2. 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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  • 3. [Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].
    Torra R, Badenas C, Pérez-Oller L, San Millán JL, Tellería D, Estivill X, Darnell A.
    Nefrologia; 2000 Jan 23; 20(1):39-46. PubMed ID: 10822721
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  • 6. A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript.
    Thongnoppakhun A, Rungroj N, Wilairat P, Vareesangthip K, Sirinavin C, Yenchitsomanus PT.
    Hum Mutat; 2000 Jan 23; 15(1):115. PubMed ID: 10612835
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  • 9. Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.
    Reiterová J, Stekrová J, Peters DJ, Kapras J, Kohoutová M, Merta M, Zidovská J.
    Hum Mutat; 2002 May 23; 19(5):573. PubMed ID: 11968093
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  • 11. Feline polycystic kidney disease mutation identified in PKD1.
    Lyons LA, Biller DS, Erdman CA, Lipinski MJ, Young AE, Roe BA, Qin B, Grahn RA.
    J Am Soc Nephrol; 2004 Oct 23; 15(10):2548-55. PubMed ID: 15466259
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  • 12. [Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease].
    Torra R, Badenas C, Darnell A, Nicolau C, Volpini V, Revert L, Estivill X.
    Med Clin (Barc); 1998 Apr 18; 110(13):481-7. PubMed ID: 9611728
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  • 14. [Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease].
    Gómez PF, Moro EC, García-Cosmes P, Sarmiento RG, Romo JM.
    Nefrologia; 2009 Apr 18; 29(6):562-8. PubMed ID: 19936001
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  • 18. Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes.
    Aguiari G, Savelli S, Garbo M, Bozza A, Augello G, Penolazzi L, De Paoli Vitali E, La Torre C, Cappelli G, Piva R, del Senno L.
    Hum Mutat; 2000 Nov 18; 16(5):444-5. PubMed ID: 11058904
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  • 19. Novel mutations in the duplicated region of PKD1 gene.
    Perrichot R, Mercier B, Quere I, Carre A, Simon P, Whebe B, Cledes J, Ferec C.
    Eur J Hum Genet; 2000 May 18; 8(5):353-9. PubMed ID: 10854095
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  • 20. 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 18; 30(2):264-73. PubMed ID: 18837007
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