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Journal Abstract Search

457 related items for PubMed ID: 15635077

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  • 3. Digenic Inheritance in Cystinuria Mouse Model.
    Espino M, Font-Llitjós M, Vilches C, Salido E, Prat E, López de Heredia M, Palacín M, Nunes V.
    PLoS One; 2015; 10(9):e0137277. PubMed ID: 26359869
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  • 5. Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
    Feliubadaló L, Arbonés ML, Mañas S, Chillarón J, Visa J, Rodés M, Rousaud F, Zorzano A, Palacín M, Nunes V.
    Hum Mol Genet; 2003 Sep 01; 12(17):2097-108. PubMed ID: 12915471
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  • 6. Cystinuria phenotyping by oral lysine and arginine loading.
    de Sanctis L, Bonetti G, Bruno M, De Luca F, Bisceglia L, Palacin M, Dianzani I, Ponzone A.
    Clin Nephrol; 2001 Dec 01; 56(6):467-74. PubMed ID: 11770798
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  • 7. Cystinuria at the turn of the millennium: clinical aspects and new molecular developments.
    Pras E.
    Mol Urol; 2000 Dec 01; 4(4):409-14. PubMed ID: 11156709
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  • 9. Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
    Botzenhart E, Vester U, Schmidt C, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggermann T, Arbeitsgemeinschaft für Pädiatrische Nephrologie (APN).
    Kidney Int; 2002 Oct 01; 62(4):1136-42. PubMed ID: 12234283
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  • 10. Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.
    Yuen YP, Lam CW, Lai CK, Tong SF, Li PS, Tam S, Kwan EY, Chan SY, Tsang WK, Chan KY, Mak WL, Cheng CW, Chan YW.
    Kidney Int; 2006 Jan 01; 69(1):123-8. PubMed ID: 16374432
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  • 12. A Novel Mutation in SLC3A1 Gene in Patients With Cystinuria.
    Markazi S, Kheirollahi M, Doosti A, Mohammadi M, Koulivand L.
    Iran J Kidney Dis; 2016 Jan 01; 10(1):44-7. PubMed ID: 26837681
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  • 13. Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.
    Kummer S, Venghaus A, Schlune A, Leube B, Eggermann T, Spiekerkoetter U.
    Pediatr Nephrol; 2014 Jan 01; 29(1):155-9. PubMed ID: 24045899
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  • 14. [From gene to disease; SLC3A1, SLC7A9 and cystinuria].
    Breuning MH, Hamdy NA.
    Ned Tijdschr Geneeskd; 2003 Feb 08; 147(6):245-7. PubMed ID: 12621979
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  • 16. Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.
    Schmidt C, Lahme S, Zerres K, Eggermann T.
    Mol Genet Metab; 2005 Feb 08; 84(2):172-5. PubMed ID: 15670723
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  • 18. Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
    Harnevik L, Fjellstedt E, Molbaek A, Tiselius HG, Denneberg T, Söderkvist P.
    Hum Mutat; 2001 Dec 08; 18(6):516-25. PubMed ID: 11748844
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  • 20. Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
    Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L.
    Mol Genet Metab; 2010 Jan 08; 99(1):42-52. PubMed ID: 19782624
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