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Journal Abstract Search

523 related items for PubMed ID: 16922352

  • 1. [From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene].
    van Woerden CS, Groothof JW, Wanders RJ, Waterham HR, Wijburg FR.
    Ned Tijdschr Geneeskd; 2006 Jul 29; 150(30):1669-72. PubMed ID: 16922352
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  • 2. Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.
    Yuen YP, Lai CK, Tong GM, Wong PN, Wong FK, Mak SK, Lo KY, Wong AK, Tong SF, Chan YW, Lam CW.
    J Nephrol; 2004 Jul 29; 17(3):436-40. PubMed ID: 15365967
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  • 3. Identification of new mutations in primary hyperoxaluria type 1 (PH1).
    von Schnakenburg C, Rumsby G.
    J Nephrol; 1998 Jul 29; 11 Suppl 1():15-7. PubMed ID: 9604803
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  • 4. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
    Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G.
    Hum Mutat; 2009 Jun 29; 30(6):910-7. PubMed ID: 19479957
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  • 8. A double mutation in AGXT gene in families with primary hyperoxaluria type 1.
    Kanoun H, Jarraya F, Hadj Salem I, Mahfoudh H, Chaabouni Y, Makni F, Hachicha J, Fakhfakh F.
    Gene; 2013 Dec 01; 531(2):451-6. PubMed ID: 24012869
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  • 9. Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.
    Danpure CJ.
    Am J Nephrol; 2005 Dec 01; 25(3):303-10. PubMed ID: 15961951
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  • 10. Primary hyperoxaluria: genotype-phenotype correlation.
    Pirulli D, Marangella M, Amoroso A.
    J Nephrol; 2003 Dec 01; 16(2):297-309. PubMed ID: 12768081
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  • 13. The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
    Coulter-Mackie MB, Lian Q, Applegarth D, Toone J.
    Mol Genet Metab; 2005 Dec 01; 86(1-2):172-8. PubMed ID: 15963748
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  • 14. Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1.
    von Schnakenburg C, Weir T, Rumsby G.
    Ann Hum Genet; 1997 Jul 01; 61(Pt 4):365-8. PubMed ID: 9365788
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  • 16. Differential expression of liver and kidney proteins in a mouse model for primary hyperoxaluria type I.
    Hernández-Fernaud JR, Salido E.
    FEBS J; 2010 Nov 01; 277(22):4766-74. PubMed ID: 20977670
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  • 17. Molecular analysis of the AGXT gene in Italian patients with primary hyperoxaluria type 1 (PH1).
    Ferrettini C, Pirulli D, Cosseddu D, Marangella M, Petrarulo M, Mazzola G, Vatta S, Amoroso A.
    J Nephrol; 1998 Nov 01; 11 Suppl 1():18-22. PubMed ID: 9604804
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  • 18. Systemic Alanine Glyoxylate Aminotransferase mRNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1.
    Kukreja A, Lasaro M, Cobaugh C, Forbes C, Tang JP, Gao X, Martin-Higueras C, Pey AL, Salido E, Sobolov S, Subramanian RR.
    Nucleic Acid Ther; 2019 Apr 01; 29(2):104-113. PubMed ID: 30676254
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  • 19. A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.
    Williams EL, Kemper MJ, Rumsby G.
    Am J Kidney Dis; 2006 Sep 01; 48(3):481-3. PubMed ID: 16931222
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  • 20. Generation and characterization of a novel rat model of primary hyperoxaluria type 1 with a nonsense mutation in alanine-glyoxylate aminotransferase gene.
    Li Y, Zheng R, Xu G, Huang Y, Li Y, Li D, Geng H.
    Am J Physiol Renal Physiol; 2021 Mar 01; 320(3):F475-F484. PubMed ID: 33491567
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