BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

269 related articles for article (PubMed ID: 11571556)

  • 1. 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; 9(9):677-84. PubMed ID: 11571556
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.
    Koptides M; Mean R; Demetriou K; Constantinides R; Pierides A; Harris PC; Deltas CC
    Hum Mutat; 2000 Aug; 16(2):176. PubMed ID: 10923040
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 19(3):240-50. PubMed ID: 11857740
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2).
    Veldhuisen B; Spruit L; Dauwerse HG; Breuning MH; Peters DJ
    Eur J Hum Genet; 1999 Dec; 7(8):860-72. PubMed ID: 10602361
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 30(2):264-73. PubMed ID: 18837007
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 16(5):444-5. PubMed ID: 11058904
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 8(5):353-9. PubMed ID: 10854095
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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; 15(1):115. PubMed ID: 10612835
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
    Inoue S; Inoue K; Utsunomiya M; Nozaki J; Yamada Y; Iwasa T; Mori E; Yoshinaga T; Koizumi A
    Hum Mutat; 2002 Jun; 19(6):622-8. PubMed ID: 12007219
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 23(1):99. PubMed ID: 14695542
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. [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]  

  • 17. 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; 84(9):1308-16. PubMed ID: 11800305
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
    Phakdeekitcharoen B; Watnick TJ; Ahn C; Whang DY; Burkhart B; Germino GG
    Kidney Int; 2000 Oct; 58(4):1400-12. PubMed ID: 11012875
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations.
    Bogdanova N; McCluskey M; Sikmann K; Markoff A; Todorov V; Dimitrakov D; Schiavello T; Thomas M; Kalaydjieva L; Dworniczak B; Horst J
    Hum Mutat; 2000; 16(2):166-74. PubMed ID: 10923038
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 25(2):143-4. PubMed ID: 10835625
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.