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296 related items for PubMed ID: 10835625

  • 1. Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.
    Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D, St George-Hyslop P, Germino G, Pei Y.
    Nat Genet; 2000 Jun; 25(2):143-4. PubMed ID: 10835625
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  • 2. [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 Jun; 20(1):39-46. PubMed ID: 10822721
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  • 4. 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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  • 8. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).
    Boucher C, Sandford R.
    Eur J Hum Genet; 2004 May 23; 12(5):347-54. PubMed ID: 14872199
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  • 10. 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 23; 30(2):264-73. PubMed ID: 18837007
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  • 11. Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
    Inoue S, Inoue K, Utsunomiya M, Nozaki J, Yamada Y, Iwasa T, Mori E, Yoshinaga T, Koizumi A.
    Hum Mutat; 2002 Jun 23; 19(6):622-8. PubMed ID: 12007219
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  • 12. [Heterozygosity loss and somatic mutations in type I and II dominant autosomal renal polycystic kidney disease: evidence of a recessive mechanism at a cell level in cystogenesis].
    Pérez-Oller L, Torra R, Badenas C, San Millán JL, Darnell A.
    Nefrologia; 2000 Jun 23; 20(2):130-8. PubMed ID: 10853193
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  • 13. Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
    Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou Deltas C.
    Hum Mol Genet; 1999 Mar 23; 8(3):509-13. PubMed ID: 9949210
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  • 14. Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease.
    Dedoussis GV, Luo Y, Starremans P, Rossetti S, Ramos AJ, Cantiello HF, Katsareli E, Ziroyannis P, Lamnissou K, Harris PC, Zhou J.
    Eur J Clin Invest; 2008 Mar 23; 38(3):180-90. PubMed ID: 18257781
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  • 18. Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.
    Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P.
    J Am Soc Nephrol; 1999 Jul 23; 10(7):1524-9. PubMed ID: 10405208
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  • 19. Genotypes of autosomal dominant polycystic kidney disease in Japanese.
    Mizoguchi M, Tamura T, Yamaki A, Higashihara E, Shimizu Y.
    J Hum Genet; 2002 Jul 23; 47(1):51-4. PubMed ID: 11829141
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  • 20. 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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