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511 related items for PubMed ID: 23496908

  • 1. 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]

  • 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. 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]

  • 4. 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 Nov 16; 43(2):297-309. PubMed ID: 29529603
    [Abstract] [Full Text] [Related]

  • 5. Polycystic Kidney Disease without an Apparent Family History.
    Iliuta IA, Kalatharan V, Wang K, Cornec-Le Gall E, Conklin J, Pourafkari M, Ting R, Chen C, Borgo AC, He N, Song X, Heyer CM, Senum SR, Hwang YH, Paterson AD, Harris PC, Khalili K, Pei Y.
    J Am Soc Nephrol; 2017 Sep 16; 28(9):2768-2776. PubMed ID: 28522688
    [Abstract] [Full Text] [Related]

  • 6. Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
    Ambrosini E, Montanari F, Cristalli CP, Capelli I, La Scola C, Pasini A, Graziano C.
    Genes (Basel); 2023 Jun 07; 14(6):. PubMed ID: 37372410
    [Abstract] [Full Text] [Related]

  • 7. 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 07; 69():104934. PubMed ID: 38537868
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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 10; 24(5):504-510. PubMed ID: 29633482
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. PKD1 mosaicism associated with severe renal, hepatic, and vascular phenotype.
    Van Regemorter E, Dahan K, Hougardy C, Ciccarelli O, Kanaan N, Pirson Y, Demoulin N.
    Clin Nephrol; 2022 Dec 23; 98(6):296-300. PubMed ID: 36278297
    [Abstract] [Full Text] [Related]

  • 12. Mutational screening of PKD1 and PKD2 in Indian ADPKD patients identified 95 genetic variants.
    Raj S, Singh RG, Das P.
    Mutat Res; 2020 Dec 23; 821():111718. PubMed ID: 32823016
    [Abstract] [Full Text] [Related]

  • 13. Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
    Al-Hamed MH, Alsahan N, Rice SJ, Edwards N, Nooreddeen E, Alotaibi M, Kurdi W, Alnemer M, Altaleb N, Ali W, Al-Numair N, Almejaish N, Sayer JA, Imtiaz F.
    Pediatr Nephrol; 2019 Sep 23; 34(9):1615-1623. PubMed ID: 31079206
    [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. 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]

  • 16. 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]

  • 17. PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.
    Cornec-Le Gall E, Audrézet MP, Renaudineau E, Hourmant M, Charasse C, Michez E, Frouget T, Vigneau C, Dantal J, Siohan P, Longuet H, Gatault P, Ecotière L, Bridoux F, Mandart L, Hanrotel-Saliou C, Stanescu C, Depraetre P, Gie S, Massad M, Kersalé A, Séret G, Augusto JF, Saliou P, Maestri S, Chen JM, Harris PC, Férec C, Le Meur Y.
    Am J Kidney Dis; 2017 Oct 15; 70(4):476-485. PubMed ID: 28356211
    [Abstract] [Full Text] [Related]

  • 18. A missense mutation in PKD1 attenuates the severity of renal disease.
    Pei Y, Lan Z, Wang K, Garcia-Gonzalez M, He N, Dicks E, Parfrey P, Germino G, Watnick T.
    Kidney Int; 2012 Feb 15; 81(4):412-7. PubMed ID: 22031115
    [Abstract] [Full Text] [Related]

  • 19. Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.
    Hopp K, Cornec-Le Gall E, Senum SR, Te Paske IBAW, Raj S, Lavu S, Baheti S, Edwards ME, Madsen CD, Heyer CM, Ong ACM, Bae KT, Fatica R, Steinman TI, Chapman AB, Gitomer B, Perrone RD, Rahbari-Oskoui FF, Torres VE, HALT Progression of Polycystic Kidney Disease Group, the ADPKD Modifier Study, Harris PC.
    Kidney Int; 2020 Feb 15; 97(2):370-382. PubMed ID: 31874800
    [Abstract] [Full Text] [Related]

  • 20. Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.
    Hafizi A, Khatami SR, Galehdari H, Shariati G, Saberi AH, Hamid M.
    Iran Biomed J; 2014 Jul 15; 18(3):143-50. PubMed ID: 24842140
    [Abstract] [Full Text] [Related]

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