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Journal Abstract Search


145 related items for PubMed ID: 11414761

  • 1. Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes.
    Bogdanova N, Markoff A, Gerke V, McCluskey M, Horst J, Dworniczak B.
    Genomics; 2001 Jun 15; 74(3):333-41. PubMed ID: 11414761
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  • 3. Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
    Bouba I, Koptides M, Mean R, Costi CE, Demetriou K, Georgiou I, Pierides A, Siamopoulos K, Deltas CC.
    Eur J Hum Genet; 2001 Sep 15; 9(9):677-84. PubMed ID: 11571556
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  • 4. A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1).
    Kraus B, Pohlschmidt M, Leung AL, Germino GG, Snarey A, Schneider MC, Reeders ST, Frischauf AM.
    Genomics; 1994 Nov 01; 24(1):27-33. PubMed ID: 7896286
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  • 5. Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
    McCluskey M, Schiavello T, Hunter M, Hantke J, Angelicheva D, Bogdanova N, Markoff A, Thomas M, Dworniczak B, Horst J, Kalaydjieva L.
    Hum Mutat; 2002 Mar 01; 19(3):240-50. PubMed ID: 11857740
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  • 7. 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 01; 15(1):115. PubMed ID: 10612835
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  • 8. Overexpression of PKD1 causes polycystic kidney disease.
    Thivierge C, Kurbegovic A, Couillard M, Guillaume R, Coté O, Trudel M.
    Mol Cell Biol; 2006 Feb 01; 26(4):1538-48. PubMed ID: 16449663
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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 01; 30(2):264-73. PubMed ID: 18837007
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  • 12. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome.
    Brook-Carter PT, Peral B, Ward CJ, Thompson P, Hughes J, Maheshwar MM, Nellist M, Gamble V, Harris PC, Sampson JR.
    Nat Genet; 1994 Dec 01; 8(4):328-32. PubMed ID: 7894481
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  • 13. Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions.
    Lantinga-van Leeuwen IS, Leonhard WN, Dauwerse H, Baelde HJ, van Oost BA, Breuning MH, Peters DJ.
    Eur J Hum Genet; 2005 May 01; 13(5):649-59. PubMed ID: 15770226
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  • 16. Cloning and expression of the amphibian homologue of the human PKD1 gene.
    Burtey S, Leclerc C, Nabais E, Munch P, Gohory C, Moreau M, Fontés M.
    Gene; 2005 Aug 29; 357(1):29-36. PubMed ID: 15996834
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  • 17. 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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  • 18. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium.
    Cell; 1994 Aug 26; 78(4):725. PubMed ID: 8069919
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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 26; 84(9):1308-16. PubMed ID: 11800305
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  • 20. 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 26; 8(5):353-9. PubMed ID: 10854095
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