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351 related items for PubMed ID: 28969594

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

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 30(2):219-225. PubMed ID: 26946417
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 246(4):233-241. PubMed ID: 30541997
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 119(4):311-316. PubMed ID: 27915025
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.
    M'dimegh S, Omezzine A, Hamida-Rebai MB, Aquaviva-Bourdain C, M'barek I, Sahtout W, Zellama D, Souche G, Achour A, Abroug S, Bouslama A.
    Transpl Immunol; 2016 Nov 17; 39():60-65. PubMed ID: 27568336
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 18(6):1905-14. PubMed ID: 17460142
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 53(7):1216-21. PubMed ID: 17495019
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 81(1):1-10. PubMed ID: 27935012
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 19(11):623-8. PubMed ID: 26383609
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 30(6):910-7. PubMed ID: 19479957
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 66(3):959-63. PubMed ID: 15327387
    [Abstract] [Full Text] [Related]

  • 17. Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.
    Soliman NA, Nabhan MM, Abdelrahman SM, Abdelaziz H, Helmy R, Ghanim K, Bazaraa HM, Badr AM, Tolba OA, Kotb MA, Eweeda KM, Fayez A.
    Nephrol Ther; 2017 May 01; 13(3):176-182. PubMed ID: 28161266
    [Abstract] [Full Text] [Related]

  • 18. [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
    [Abstract] [Full Text] [Related]

  • 19. 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 29; 28(4):151-158. PubMed ID: 38657121
    [Abstract] [Full Text] [Related]

  • 20. Primary hyperoxaluria type 1 in children: clinical and laboratory manifestations and outcome.
    Wannous H.
    Pediatr Nephrol; 2023 Aug 29; 38(8):2643-2648. PubMed ID: 36917293
    [Abstract] [Full Text] [Related]

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