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Journal Abstract Search

160 related items for PubMed ID: 34082749

  • 1.
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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
    [Abstract] [Full Text] [Related]

  • 3. 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; 119(4):311-316. PubMed ID: 27915025
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  • 4. 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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  • 5. 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 02; 81(1):1-10. PubMed ID: 27935012
    [Abstract] [Full Text] [Related]

  • 6. 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 02; 19(11):623-8. PubMed ID: 26383609
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  • 7. 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 02; 18(6):1905-14. PubMed ID: 17460142
    [Abstract] [Full Text] [Related]

  • 8. 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 02; 53(7):1216-21. PubMed ID: 17495019
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  • 10. 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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  • 12. Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
    Li GM, Xu H, Shen Q, Gong YN, Fang XY, Sun L, Liu HM, An Y.
    BMC Nephrol; 2014 Jun 17; 15():92. PubMed ID: 24934730
    [Abstract] [Full Text] [Related]

  • 13. 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 17; 246(4):233-241. PubMed ID: 30541997
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  • 17. 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 17; 48(3):481-3. PubMed ID: 16931222
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  • 18. Identification of new mutations in primary hyperoxaluria type 1 (PH1).
    von Schnakenburg C, Rumsby G.
    J Nephrol; 1998 Sep 17; 11 Suppl 1():15-7. PubMed ID: 9604803
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