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Journal Abstract Search

264 related items for PubMed ID: 15327387

  • 1. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
    Rumsby G, Williams E, Coulter-Mackie M.
    Kidney Int; 2004 Sep; 66(3):959-63. PubMed ID: 15327387
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  • 2. Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.
    Pelle A, Cuccurullo A, Mancini C, Sebastiano R, Stallone G, Negrisolo S, Benetti E, Peruzzi L, Petrarulo M, De Marchi M, Marangella M, Amoroso A, Giachino D, Mandrile G.
    J Nephrol; 2017 Apr; 30(2):219-225. PubMed ID: 26946417
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  • 3. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
    Monico CG, Rossetti S, Schwanz HA, Olson JB, Lundquist PA, Dawson DB, Harris PC, Milliner DS.
    J Am Soc Nephrol; 2007 Jun; 18(6):1905-14. PubMed ID: 17460142
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  • 4. Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
    Williams E, Rumsby G.
    Clin Chem; 2007 Jul; 53(7):1216-21. PubMed ID: 17495019
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  • 5. Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
    Nagara M, Tiar A, Ben Halim N, Ben Rhouma F, Messaoud O, Bouyacoub Y, Kefi R, Hassayoun S, Zouari N, Ben Ammar MS, Abdelhak S, Chemli J.
    Gene; 2013 Sep 15; 527(1):316-20. PubMed ID: 23810941
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  • 6. Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.
    Kanoun H, Jarraya F, Maalej B, Lahiani A, Mahfoudh H, Makni F, Hachicha J, Fakhfakh F.
    BMC Nephrol; 2017 Oct 02; 18(1):303. PubMed ID: 28969594
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  • 9. Biochemical and genetic diagnosis of the primary hyperoxalurias: a review.
    Rumsby G.
    Mol Urol; 2000 Oct 02; 4(4):349-54. PubMed ID: 11156702
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  • 10. Molecular aetiology of primary hyperoxaluria and its implications for clinical management.
    Danpure CJ, Rumsby G.
    Expert Rev Mol Med; 2004 Jan 09; 6(1):1-16. PubMed ID: 14987413
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  • 12. Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.
    Isiyel E, Ezgu SA, Caliskan S, Akman S, Akil I, Tabel Y, Akinci N, Ozdogan EB, Ozel A, Eroglu FK, Ezgu FS.
    Mol Genet Metab; 2016 Dec 09; 119(4):311-316. PubMed ID: 27915025
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  • 13. Primary hyperoxaluria type 1: is genotyping clinically helpful?
    Leumann E, Hoppe B.
    Pediatr Nephrol; 2005 May 09; 20(5):555-7. PubMed ID: 15772831
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  • 14. Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
    Coulter-Mackie MB, Rumsby G.
    Mol Genet Metab; 2004 May 09; 83(1-2):38-46. PubMed ID: 15464418
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  • 18. Generation of an induced pluripotent stem cell line (CIMAi001-A) from a compound heterozygous Primary Hyperoxaluria Type I (PH1) patient carrying p.G170R and p.R122* mutations in the AGXT gene.
    Martinez-Turrillas R, Rodriguez-Diaz S, Rodriguez-Marquez P, Martin-Mallo A, Salido E, Beck BB, Prosper F, Rodriguez-Madoz JR.
    Stem Cell Res; 2019 Dec 09; 41():101626. PubMed ID: 31715429
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  • 19. A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.
    M'Dimegh S, Aquaviva-Bourdain C, Omezzine A, M'Barek I, Souche G, Zellama D, Abidi K, Achour A, Gargah T, Abroug S, Bouslama A.
    J Genet; 2016 Sep 09; 95(3):659-66. PubMed ID: 27659337
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