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Journal Abstract Search

182 related items for PubMed ID: 9604804

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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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  • 6. [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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  • 7. 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. Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.
    Santana A, Salido E, Torres A, Shapiro LJ.
    Proc Natl Acad Sci U S A; 2003 Jun 10; 100(12):7277-82. PubMed ID: 12777626
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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. 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
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  • 15. 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
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  • 16. 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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  • 17. Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.
    Coulter-Mackie MB, Lian Q, Applegarth DA, Toone J, Waters PJ, Vallance H.
    Clin Biochem; 2008 May 01; 41(7-8):598-602. PubMed ID: 18282470
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  • 18. 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
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  • 19. 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
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  • 20. Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital.
    Rhuma NR, Fituri OA, Sabei LT.
    Saudi J Kidney Dis Transpl; 2018 Dec 01; 29(1):30-38. PubMed ID: 29456205
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