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Journal Abstract Search

287 related items for PubMed ID: 17495019

  • 1. 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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  • 2. 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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  • 3. 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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  • 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. 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 15; 119(4):311-316. PubMed ID: 27915025
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  • 7. Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.
    M'dimegh S, Omezzine A, M'barek I, Moussa A, Mabrouk S, Kaarout H, Souche G, Chemli J, Aloui S, Aquaviva-Bourdain C, Achour A, Abroug S, Bouslama A.
    Ann Hum Genet; 2017 Jan 15; 81(1):1-10. PubMed ID: 27935012
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  • 9. AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
    Boualla L, Tajir M, Oulahiane N, Lyahyai J, Laarabi FZ, Chafai Elalaoui S, Soulami K, Ait Ouamar H, Sefiani A.
    Genet Test Mol Biomarkers; 2015 Nov 15; 19(11):623-8. PubMed ID: 26383609
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  • 10. Identification of new mutations in primary hyperoxaluria type 1 (PH1).
    von Schnakenburg C, Rumsby G.
    J Nephrol; 1998 Nov 15; 11 Suppl 1():15-7. PubMed ID: 9604803
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  • 13. 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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  • 14. 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 01; 95(3):659-66. PubMed ID: 27659337
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  • 15. Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
    Murad H, Alhalabi MB, Dabboul A, Alfakseh N, Nweder MS, Zghib Y, Wannous H.
    BMC Med Genomics; 2021 Jun 03; 14(1):146. PubMed ID: 34082749
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  • 16. 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 03; 30(2):219-225. PubMed ID: 26946417
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  • 17. A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.
    Li X, Gu J, Yang Y, Li J, Li Y.
    Tohoku J Exp Med; 2018 Dec 03; 246(4):233-241. PubMed ID: 30541997
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  • 19. Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
    von Schnakenburg C, Rumsby G.
    J Med Genet; 1997 Jun 03; 34(6):489-92. PubMed ID: 9192270
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  • 20. Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.
    Naguib S, Mansour LA, Soliman NA, El-Hanafy HM, Fahmy YA, Elmonem MA, Halim RMA.
    Genet Test Mol Biomarkers; 2024 Apr 03; 28(4):151-158. PubMed ID: 38657121
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