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Journal Abstract Search

348 related items for PubMed ID: 20950398

  • 1. Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease.
    Tan YC, Blumenfeld J, Michaeel A, Donahue S, Balina M, Parker T, Levine D, Rennert H.
    Clin Genet; 2011 Sep; 80(3):287-92. PubMed ID: 20950398
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  • 4. 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; 49(1):37-40. PubMed ID: 22114106
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  • 5. Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.
    Claverie-Martin F, Gonzalez-Paredes FJ, Ramos-Trujillo E.
    RNA Biol; 2015 Jan; 12(4):369-74. PubMed ID: 25757501
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  • 6. 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
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  • 7. Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.
    Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.
    Gene; 2016 Mar 01; 578(1):117-23. PubMed ID: 26692149
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  • 8. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.
    Torra R, Badenas C, Pérez-Oller L, Luis J, Millán S, Nicolau C, Oppenheimer F, Milà M, Darnell A.
    Am J Kidney Dis; 2000 Oct 01; 36(4):728-34. PubMed ID: 11007674
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  • 9. 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 01; 30(2):264-73. PubMed ID: 18837007
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  • 10. 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
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  • 11. Exome sequencing of Saudi Arabian patients with ADPKD.
    Al-Muhanna FA, Al-Rubaish AM, Vatte C, Mohiuddin SS, Cyrus C, Ahmad A, Shakil Akhtar M, Albezra MA, Alali RA, Almuhanna AF, Huang K, Wang L, Al-Kuwaiti F, Elsalamouni TSA, Al Hwiesh A, Huang X, Keating B, Li J, Lanktree MB, Al-Ali AK.
    Ren Fail; 2019 Nov 16; 41(1):842-849. PubMed ID: 31488014
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  • 13. 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
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  • 14. 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
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  • 15. [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 Jul 04; 20(1):39-46. PubMed ID: 10822721
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  • 16. Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations.
    Kim JA, Blumenfeld JD, Chhabra S, Dutruel SP, Thimmappa ND, Bobb WO, Donahue S, Rennert HE, Tan AY, Giambrone AE, Prince MR.
    Radiology; 2016 Sep 04; 280(3):762-70. PubMed ID: 27046073
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  • 17. 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 04; 16(5):444-5. PubMed ID: 11058904
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  • 18. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
    Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C.
    Hum Mutat; 2012 Aug 04; 33(8):1239-50. PubMed ID: 22508176
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  • 19. 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 04; 19(5):1116-22. PubMed ID: 14993477
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  • 20. Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.
    Choi R, Park HC, Lee K, Lee MG, Kim JW, Ki CS, Hwang YH, Ahn C.
    BMC Med Genet; 2014 Dec 10; 15():129. PubMed ID: 25491204
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