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155 related items for PubMed ID: 8394527

  • 21. A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease.
    Somlo S, Rutecki G, Giuffra LA, Reeders ST, Cugino A, Whittier FC.
    J Am Soc Nephrol; 1993 Dec; 4(6):1371-8. PubMed ID: 8130364
    [Abstract] [Full Text] [Related]

  • 22. Mapping the locus of autosomal dominant polycystic kidney disease: diagnostic application.
    Reeders ST, Germino GG, Gillespie GA.
    Clin Chem; 1989 Jul; 35(7 Suppl):B13-6. PubMed ID: 2568192
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred.
    Hateboer N, Buchalter M, Davies SJ, Lazarou LP, Ravine D.
    Am J Kidney Dis; 2000 Apr 18; 35(4):753-60. PubMed ID: 10739800
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. Genetic analysis of Cuban autosomal dominant polycystic kidney disease kindreds using RFLPs and microsatellite polymorphisms linked to the PKD1 locus.
    Viribay M, Ferreira R, Peral B, Bello D, Ward CJ, Dávalos J, Valle C, Harris PC, Méndez del Castillo D, Moreno F.
    Hum Genet; 1994 Oct 18; 94(4):432-6. PubMed ID: 7927343
    [Abstract] [Full Text] [Related]

  • 27. Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families.
    Turco A, Peissel B, Gammaro L, Maschio G, Pignatti PF.
    Clin Genet; 1991 Oct 18; 40(4):287-97. PubMed ID: 1684535
    [Abstract] [Full Text] [Related]

  • 28. [The molecular genetic analysis of polycystic kidney disease].
    Fukuda Y.
    Nihon Rinsho; 1992 Dec 18; 50(12):3093-9. PubMed ID: 1283420
    [Abstract] [Full Text] [Related]

  • 29. Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing.
    Ranjzad F, Aghdami N, Tara A, Mohseni M, Moghadasali R, Basiri A.
    Kidney Blood Press Res; 2018 Dec 18; 43(2):471-478. PubMed ID: 29590654
    [Abstract] [Full Text] [Related]

  • 30. Genetic analysis of 20 families with autosomal dominant adult polycystic kidney disease from South West Thames Region.
    Jeffery S, Saggar-Malik AK, Morgan S, Eastwood JB, Patton M.
    Clin Genet; 1995 Jun 18; 47(6):290-4. PubMed ID: 7554361
    [Abstract] [Full Text] [Related]

  • 31. Genetic heterogeneity in Korean families with autosomal-dominant polycystic kidney disease (ADPKD): the first Asian report.
    Lee JG, Lee KB, Kim UK, Ahn C, Hwang DY, Hwang YH, Eo HS, Lee EJ, Kim YS, Han JS, Kim S, Lee JS.
    Clin Genet; 2001 Aug 18; 60(2):138-44. PubMed ID: 11553048
    [Abstract] [Full Text] [Related]

  • 32. Linkage analysis of families with autosomal dominant polycystic kidney disease by KG8-CA marker.
    Yuan CF, Lin CY, Chen TW, Yang ML, Ng HT.
    Zhonghua Yi Xue Za Zhi (Taipei); 1997 Sep 18; 60(3):125-9. PubMed ID: 9419947
    [Abstract] [Full Text] [Related]

  • 33. The autosomal dominant polycystic kidney disease gene in a Jewish family from Uzbekistan is PKD1.
    Frisch A, Frydman M, Blau O, Narinsky R, Morduchowicz G, Boner G, Bachner L, Steinherz R.
    Isr J Med Sci; 1992 Oct 18; 28(10):700-5. PubMed ID: 1356950
    [Abstract] [Full Text] [Related]

  • 34. 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 Jun 17; 77(6):881-94. PubMed ID: 8004675
    [Abstract] [Full Text] [Related]

  • 35. Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4.
    Zerres K, Mücher G, Rudnik-Schöneborn S.
    Hum Genet; 1994 Jun 17; 93(6):697-8. PubMed ID: 8005596
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. Genotypes of autosomal dominant polycystic kidney disease in Japanese.
    Mizoguchi M, Tamura T, Yamaki A, Higashihara E, Shimizu Y.
    J Hum Genet; 2002 Mar 01; 47(1):51-4. PubMed ID: 11829141
    [Abstract] [Full Text] [Related]

  • 38. Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.
    Constantinou-Deltas CD, Papageorgiou E, Boteva K, Christodoulou K, Breuning MH, Peter DJ, Pierides A.
    Hum Genet; 1995 Apr 01; 95(4):416-23. PubMed ID: 7705838
    [Abstract] [Full Text] [Related]

  • 39. Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23.
    Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Connolly CJ, Somlo S.
    Genomics; 1993 Dec 01; 18(3):467-72. PubMed ID: 8307555
    [Abstract] [Full Text] [Related]

  • 40. Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers.
    Somlo S, Wirth B, Germino GG, Weinstat-Saslow D, Gillespie GA, Himmelbauer H, Steevens L, Coucke P, Willems P, Bachner L.
    Genomics; 1992 May 01; 13(1):152-8. PubMed ID: 1349570
    [Abstract] [Full Text] [Related]

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