BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 10727541)

  • 1. A novel frameshift mutation (2436insT) produces an immediate stop codon in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.
    Iglesias DM; Telleria D; Viribay M; Herrera M; Bernath VA; Kornblihtt AR; Martin RS; Millán JL
    Nephrol Dial Transplant; 2000 Apr; 15(4):477-80. PubMed ID: 10727541
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene.
    Pei Y; Wang K; Kasenda M; Paterson AD; Liang Y; Huang E; Lian J; Rogovea E; Somlo S; St George-Hyslop P
    Kidney Int; 1998 May; 53(5):1127-32. PubMed ID: 9573526
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 7():6. PubMed ID: 16430766
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.
    Viribay M; Hayashi T; Tellería D; Mochizuki T; Reynolds DM; Alonso R; Lens XM; Moreno F; Harris PC; Somlo S; San Millán JL
    Hum Genet; 1997 Dec; 101(2):229-34. PubMed ID: 9402976
    [TBL] [Abstract][Full Text] [Related]  

  • 5. PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.
    Stekrová J; Reiterová J; Merta M; Damborsky J; Zidovská J; Kebrdlová V; Kohoutová M
    Nephrol Dial Transplant; 2004 May; 19(5):1116-22. PubMed ID: 14993477
    [TBL] [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; 59(2):133-7. PubMed ID: 10413889
    [TBL] [Abstract][Full Text] [Related]  

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

  • 8. Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
    Torra R; Viribay M; Tellería D; Badenas C; Watson M; Harris P; Darnell A; San Millán JL
    Kidney Int; 1999 Jul; 56(1):28-33. PubMed ID: 10411676
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 14(5):1164-74. PubMed ID: 12707387
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease.
    Chang MY; Fang JT; Huang CC; Wu IW; Wu Chou YH
    Ren Fail; 2005; 27(1):95-100. PubMed ID: 15717641
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.
    Elisakova V; Merta M; Reiterova J; Baxova A; Kotlas J; Hirschfeldova K; Obeidova L; Tesar V; Stekrova J
    BMC Nephrol; 2018 Jul; 19(1):163. PubMed ID: 29973168
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
    Zhang M; Liu S; Xia X; Cui Y; Li X
    Nephrology (Carlton); 2019 May; 24(5):504-510. PubMed ID: 29633482
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.
    Wang K; Zhao X; Chan S; Cil O; He N; Song X; Paterson AD; Pei Y
    Clin J Am Soc Nephrol; 2009 Feb; 4(2):442-9. PubMed ID: 19158373
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.
    Deltas CC; Christodoulou K; Tjakouri C; Pierides A
    Clin Genet; 1996 Jul; 50(1):10-8. PubMed ID: 8891380
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes.
    Ariza M; Alvarez V; Marín R; Aguado S; López-Larrea C; Alvarez J; Menéndez MJ; Coto E
    J Med Genet; 1997 Jul; 34(7):587-9. PubMed ID: 9222969
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 43(2):471-478. PubMed ID: 29590654
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 Gene.
    Rossetti S; Bresin E; Restagno G; Carbonara A; Corrà S; De Prisco O; Pignatti PF; Turco AE
    Am J Med Genet; 1996 Oct; 65(2):155-9. PubMed ID: 8911610
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease.
    Sha YK; Sha YW; Mei LB; Huang XJ; Wang X; Lin SB; Li L; Li P
    Gene; 2017 Nov; 634():1-4. PubMed ID: 28870863
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.