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Journal Abstract Search

167 related items for PubMed ID: 1360045

  • 1. Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease.
    Ravine D, Walker RG, Gibson RN, Forrest SM, Richards RI, Friend K, Sheffield LJ, Kincaid-Smith P, Danks DM.
    Lancet; 1992 Nov 28; 340(8831):1330-3. PubMed ID: 1360045
    [Abstract] [Full Text] [Related]

  • 2. Autosomal dominant polycystic kidney disease: new information for genetic counselling.
    Bear JC, Parfrey PS, Morgan JM, Martin CJ, Cramer BC.
    Am J Med Genet; 1992 Jun 01; 43(3):548-53. PubMed ID: 1605247
    [Abstract] [Full Text] [Related]

  • 3. Autosomal dominant polycystic kidney disease with minimal clinical expression unlinked to the PKD1 locus.
    Wright GD, Hughes AE, Larkin KA, Doherty CC, Nevin NC.
    Nephrol Dial Transplant; 1993 Jun 01; 8(6):491-4. PubMed ID: 8394527
    [Abstract] [Full Text] [Related]

  • 4. The diagnosis and prognosis of autosomal dominant polycystic kidney disease.
    Parfrey PS, Bear JC, Morgan J, Cramer BC, McManamon PJ, Gault MH, Churchill DN, Singh M, Hewitt R, Somlo S.
    N Engl J Med; 1990 Oct 18; 323(16):1085-90. PubMed ID: 2215575
    [Abstract] [Full Text] [Related]

  • 5. Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.
    Heyer CM, Sundsbak JL, Abebe KZ, Chapman AB, Torres VE, Grantham JJ, Bae KT, Schrier RW, Perrone RD, Braun WE, Steinman TI, Mrug M, Yu AS, Brosnahan G, Hopp K, Irazabal MV, Bennett WM, Flessner MF, Moore CG, Landsittel D, Harris PC, HALT PKD and CRISP Investigators.
    J Am Soc Nephrol; 2016 Sep 18; 27(9):2872-84. PubMed ID: 26823553
    [Abstract] [Full Text] [Related]

  • 6. Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.
    Hwang YH, Conklin J, Chan W, Roslin NM, Liu J, He N, Wang K, Sundsbak JL, Heyer CM, Haider M, Paterson AD, Harris PC, Pei Y.
    J Am Soc Nephrol; 2016 Jun 18; 27(6):1861-8. PubMed ID: 26453610
    [Abstract] [Full Text] [Related]

  • 7. Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease.
    Chebib FT, Jung Y, Heyer CM, Irazabal MV, Hogan MC, Harris PC, Torres VE, El-Zoghby ZM.
    Nephrol Dial Transplant; 2016 Jun 18; 31(6):952-60. PubMed ID: 26932689
    [Abstract] [Full Text] [Related]

  • 8. Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1).
    Coto E, Aguado S, Alvarez J, Menéndez Díaz MJ, López-Larrea C.
    J Med Genet; 1992 Apr 18; 29(4):243-6. PubMed ID: 1583643
    [Abstract] [Full Text] [Related]

  • 9. Genotypes of autosomal dominant polycystic kidney disease in Japanese.
    Mizoguchi M, Tamura T, Yamaki A, Higashihara E, Shimizu Y.
    J Hum Genet; 2002 Apr 18; 47(1):51-4. PubMed ID: 11829141
    [Abstract] [Full Text] [Related]

  • 10. Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
    Paul BM, Consugar MB, Ryan Lee M, Sundsbak JL, Heyer CM, Rossetti S, Kubly VJ, Hopp K, Torres VE, Coto E, Clementi M, Bogdanova N, de Almeida E, Bichet DG, Harris PC.
    Kidney Int; 2014 Feb 18; 85(2):383-92. PubMed ID: 23760289
    [Abstract] [Full Text] [Related]

  • 11. DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2: evaluation of clinical heterogeneity between both forms of the disease.
    Coto E, Sanz de Castro S, Aguado S, Alvarez J, Arias M, Menéndez MJ, López-Larrea C.
    J Med Genet; 1995 Jun 18; 32(6):442-5. PubMed ID: 7666395
    [Abstract] [Full Text] [Related]

  • 12. A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.
    Ali H, Hussain N, Naim M, Zayed M, Al-Mulla F, Kehinde EO, Seaburg LM, Sundsbak JL, Harris PC.
    BMC Nephrol; 2015 Mar 01; 16():26. PubMed ID: 25880449
    [Abstract] [Full Text] [Related]

  • 13. The use of ultrasonography and linkage studies for early diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
    Papadopoulou D, Tsakiris D, Papadimitriou M.
    Ren Fail; 1999 Jan 01; 21(1):67-84. PubMed ID: 10048119
    [Abstract] [Full Text] [Related]

  • 14. Genetic linkage analysis, clinical features and prognosis of autosomal dominant polycystic kidney disease in Northern Ireland.
    Wright GD, Hughes AE, Larkin KA, Doherty CC, Nevin NC.
    Q J Med; 1993 Jul 01; 86(7):459-63. PubMed ID: 8210302
    [Abstract] [Full Text] [Related]

  • 15. Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
    Peltola P, Lumiaho A, Miettinen R, Pihlajamäki J, Sandford R, Laakso M.
    J Mol Med (Berl); 2005 Aug 01; 83(8):638-46. PubMed ID: 15772804
    [Abstract] [Full Text] [Related]

  • 16. Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations.
    Kim JA, Blumenfeld JD, Chhabra S, Dutruel SP, Thimmappa ND, Bobb WO, Donahue S, Rennert HE, Tan AY, Giambrone AE, Prince MR.
    Radiology; 2016 Sep 01; 280(3):762-70. PubMed ID: 27046073
    [Abstract] [Full Text] [Related]

  • 17. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
    Hoefele J, Mayer K, Scholz M, Klein HG.
    Nephrol Dial Transplant; 2011 Jul 01; 26(7):2181-8. PubMed ID: 21115670
    [Abstract] [Full Text] [Related]

  • 18. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
    Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y.
    J Am Soc Nephrol; 2003 May 01; 14(5):1164-74. PubMed ID: 12707387
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Type of PKD1 mutation influences renal outcome in ADPKD.
    Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, Guillodo MP, Grall-Jezequel A, Saliou P, Férec C, Le Meur Y.
    J Am Soc Nephrol; 2013 May 23; 24(6):1006-13. PubMed ID: 23431072
    [Abstract] [Full Text] [Related]

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