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Journal Abstract Search

812 related items for PubMed ID: 25880449

  • 1. 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]

  • 2. 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 04; 19(1):163. PubMed ID: 29973168
    [Abstract] [Full Text] [Related]

  • 3. Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.
    Ciantar N, Zahra G, Delicata J, Sammut F, Calleja-Agius J, Farrugia E, Said E.
    Eur J Med Genet; 2024 Jun 04; 69():104934. PubMed ID: 38537868
    [Abstract] [Full Text] [Related]

  • 4. 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 04; 27(9):2872-84. PubMed ID: 26823553
    [Abstract] [Full Text] [Related]

  • 5. 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 04; 24(5):504-510. PubMed ID: 29633482
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 634():1-4. PubMed ID: 28870863
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 26(7):2181-8. PubMed ID: 21115670
    [Abstract] [Full Text] [Related]

  • 8. Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
    Alzahrani OR, Alatwi HE, Alharbi AA, Alessa AH, Al-Amer OM, Alanazi AFR, Shams AM, Alomari E, Naser AY, Alzahrani FA, Hosawi S, Alghamdi SM, Abdali WA, Elfaki I, Hawsawi YM.
    Medicina (Kaunas); 2022 Nov 16; 58(11):. PubMed ID: 36422197
    [Abstract] [Full Text] [Related]

  • 9. Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease.
    Ranjzad F, Tara A, Basiri A, Aghdami N, Moghadasali R.
    Clin Lab; 2017 Jul 01; 63(7):1261-1267. PubMed ID: 28792715
    [Abstract] [Full Text] [Related]

  • 10. Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.
    Reiterová J, Štekrová J, Merta M, Kotlas J, Elišáková V, Lněnička P, Korabečná M, Kohoutová M, Tesař V.
    BMC Nephrol; 2013 Mar 15; 14():59. PubMed ID: 23496908
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
    Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M.
    Sci Rep; 2016 Aug 08; 6():30850. PubMed ID: 27499327
    [Abstract] [Full Text] [Related]

  • 13. Patients with Protein-Truncating PKD1 Mutations and Mild ADPKD.
    Lanktree MB, Guiard E, Akbari P, Pourafkari M, Iliuta IA, Ahmed S, Haghighi A, He N, Song X, Paterson AD, Khalili K, Pei YPC.
    Clin J Am Soc Nephrol; 2021 Mar 08; 16(3):374-383. PubMed ID: 33602752
    [Abstract] [Full Text] [Related]

  • 14. Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
    Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T.
    JAMA; 2022 Dec 27; 328(24):2412-2421. PubMed ID: 36573973
    [Abstract] [Full Text] [Related]

  • 15. Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
    Xu D, Ma Y, Gu X, Bian R, Lu Y, Xing X, Mei C.
    Kidney Blood Press Res; 2018 Dec 27; 43(2):297-309. PubMed ID: 29529603
    [Abstract] [Full Text] [Related]

  • 16. Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.
    Abdelwahed M, Hilbert P, Ahmed A, Mahfoudh H, Bouomrani S, Dey M, Hachicha J, Kamoun H, Keskes-Ammar L, Belguith N.
    Gene; 2018 Sep 10; 671():28-35. PubMed ID: 29860066
    [Abstract] [Full Text] [Related]

  • 17. Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs.
    Tan YC, Blumenfeld J, Rennert H.
    Biochim Biophys Acta; 2011 Oct 10; 1812(10):1202-12. PubMed ID: 21392578
    [Abstract] [Full Text] [Related]

  • 18. Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.
    Losekoot M, Ruivenkamp CA, Tholens AP, Grimbergen JE, Vijfhuizen L, Vermeer S, Dijkman HB, Cornelissen EA, Bongers EM, Peters DJ.
    J Med Genet; 2012 Jan 10; 49(1):37-40. PubMed ID: 22114106
    [Abstract] [Full Text] [Related]

  • 19. Two novel mutations affecting the same splice site of PKD1 correlate with different phenotypes in ADPKD.
    Yu C, Li J, Yuan Z, Liu S, Zou L.
    Ren Fail; 2014 Jun 10; 36(5):687-93. PubMed ID: 24575920
    [Abstract] [Full Text] [Related]

  • 20. PKD1-Associated Arachnoid Cysts in Autosomal Dominant Polycystic Kidney Disease.
    Shigemori K, Higashihara E, Itoh M, Yoshida H, Yamamoto K, Nutahara K, Shiokawa Y, Kaname S, Tambo M, Yamaguchi T, Taguchi S, Yoshioka T, Yokoyama K, Fukuhara H.
    J Stroke Cerebrovasc Dis; 2021 Sep 10; 30(9):105943. PubMed ID: 34175641
    [Abstract] [Full Text] [Related]

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