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Journal Abstract Search

228 related items for PubMed ID: 26692149

  • 1.
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  • 2. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
    Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.
    Gene; 2014 Aug 10; 546(2):243-9. PubMed ID: 24907393
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  • 3. 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 Aug 10; 12(4):369-74. PubMed ID: 25757501
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  • 6. 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 10; 80(3):287-92. PubMed ID: 20950398
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  • 7. 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
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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 10; 30(2):264-73. PubMed ID: 18837007
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  • 10. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.
    Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S.
    J Am Soc Nephrol; 1999 Nov 10; 10(11):2342-51. PubMed ID: 10541293
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  • 12. 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 10; 56(1):28-33. PubMed ID: 10411676
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  • 13. 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 10; 19(5):1116-22. PubMed ID: 14993477
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  • 15. Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.
    Suarez-Artiles L, Perdomo-Ramirez A, Ramos-Trujillo E, Claverie-Martin F.
    Genes (Basel); 2018 Jan 04; 9(1):. PubMed ID: 29300302
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  • 16. 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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  • 17. [Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease].
    Gómez PF, Moro EC, García-Cosmes P, Sarmiento RG, Romo JM.
    Nefrologia; 2009 Nov 04; 29(6):562-8. PubMed ID: 19936001
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  • 18. 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 04; 36(4):728-34. PubMed ID: 11007674
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  • 19. Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.
    Boichard A, Venet L, Naas T, Boutron A, Chevret L, de Baulny HO, De Lonlay P, Legrand A, Nordman P, Brivet M.
    Mol Genet Metab; 2008 Mar 04; 93(3):323-30. PubMed ID: 18023225
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  • 20. Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.
    Raponi M, Kralovicova J, Copson E, Divina P, Eccles D, Johnson P, Baralle D, Vorechovsky I.
    Hum Mutat; 2011 Apr 04; 32(4):436-44. PubMed ID: 21309043
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