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Journal Abstract Search

288 related items for PubMed ID: 18067079

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  • 7. [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; 20(1):39-46. PubMed ID: 10822721
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  • 8. Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE.
    Peters DJ, Ariyurek Y, van Dijk M, Breuning MH.
    Eur J Hum Genet; 2001 Dec; 9(12):957-60. PubMed ID: 11840199
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  • 13. 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; 16(5):444-5. PubMed ID: 11058904
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  • 15. 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; 15(1):115. PubMed ID: 10612835
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  • 18. [Gene diagnosis of autosomal dominant polycystic kidney disease type 2 using microsatellite DNA tightly linked to polycystic kidney disease gene 2].
    Zhang WL, Zhang DY, Wu YM, Sun TM, Mei CL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Aug; 21(4):325-8. PubMed ID: 15300626
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  • 19. Molecular defect of PKD1 gene resulting in abnormal RNA processing in a Thai family.
    Rungroj N, Thongnoppakhun W, Vareesangthip K, Sirinavin C, Wilairat P, Yenchitsomanus PT.
    J Med Assoc Thai; 2001 Sep; 84(9):1308-16. PubMed ID: 11800305
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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; 19(5):573. PubMed ID: 11968093
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