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Journal Abstract Search

170 related items for PubMed ID: 10862097

  • 1. Identification of 3 novel mutations (Y4236X, Q3820X, 11745+2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1).
    Perrichot R, Mercier B, Carre A, Cledes J, Ferec C.
    Hum Mutat; 2000 Jun; 15(6):582. PubMed ID: 10862097
    [No Abstract] [Full Text] [Related]

  • 2. [Polycystic kidney: complete structure of the PKD1 gene and its protein].
    Rondeau E.
    Nephrologie; 1995 Jun; 16(4):338-9. PubMed ID: 7630476
    [No Abstract] [Full Text] [Related]

  • 3. 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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  • 4. 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 01; 25(2):143-4. PubMed ID: 10835625
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  • 5. Human gene mutations. Gene symbol: PKD1. Disease: Polycystic kidney disease.
    Daniells C, Maheshwar M, Lazarou L, Davies F, Coles G, Ravine D.
    Hum Genet; 1998 Jan 01; 102(1):127. PubMed ID: 9490292
    [No Abstract] [Full Text] [Related]

  • 6. [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 Jan 01; 59(2):133-7. PubMed ID: 10413889
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Novel human pathological mutations. Gene symbol: PKD1. Disease: human autosomal dominant polycystic kidney disease.
    Li L.
    Hum Genet; 2007 Nov 01; 122(3-4):413-4. PubMed ID: 18350644
    [No Abstract] [Full Text] [Related]

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  • 11. Large deletions in the polycystic kidney disease 1 (PKD1) gene.
    Ariyurek Y, Lantinga-van Leeuwen I, Spruit L, Ravine D, Breuning MH, Peters DJ.
    Hum Mutat; 2004 Jan 01; 23(1):99. PubMed ID: 14695542
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  • 13. 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 01; 12(5):347-54. PubMed ID: 14872199
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  • 14. Genotypes of autosomal dominant polycystic kidney disease in Japanese.
    Mizoguchi M, Tamura T, Yamaki A, Higashihara E, Shimizu Y.
    J Hum Genet; 2002 May 01; 47(1):51-4. PubMed ID: 11829141
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  • 15. 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 01; 8(5):353-9. PubMed ID: 10854095
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  • 16. 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 01; 16(5):444-5. PubMed ID: 11058904
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  • 17. [Adult dominant polycystic kidney disease: molecular mechanisms and new therapeutic possibilities].
    Rodríguez Pérez JC, Torres MJ.
    Nefrologia; 2006 Nov 01; 26(6):651-2. PubMed ID: 17227240
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