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Journal Abstract Search

268 related items for PubMed ID: 12820697

  • 21. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
    Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacín M, Rizzoni G.
    J Am Soc Nephrol; 2002 Oct; 13(10):2547-53. PubMed ID: 12239244
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  • 22. The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
    Schmidt C, Vester U, Hesse A, Lahme S, Lang F, Zerres K, Eggermann T, Arbeitsgemeinschaft Pädiatrische Nephrologie.
    Urol Res; 2004 May; 32(2):75-8. PubMed ID: 14991253
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  • 23. Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.
    Koulivand L, Mohammadi M, Ezatpour B, Salehi R, Markazi S, Dashti S, Kheirollahi M.
    Urolithiasis; 2015 Oct; 43(5):447-53. PubMed ID: 26123750
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  • 28. 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; 84(2):172-5. PubMed ID: 15670723
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  • 31. A Novel Mutation in SLC7A9 Gene in Cystinuria.
    Fazaeli S, Ashouri S, Kheirollahi M, Mohammadi M, Fazilati M.
    Iran J Kidney Dis; 2017 Mar; 11(2):138-141. PubMed ID: 28270646
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  • 32. 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; 56(6):467-74. PubMed ID: 11770798
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  • 33. 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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  • 37. Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.
    Schmidt C, Tomiuk J, Botzenhart E, Vester U, Halber M, Hesse A, Wagner C, Lahme S, Lang F, Zerres K, Eggermann T, Bachmann H, Bökenkamp A, Fischbach M, Fründ S, Pistor KG, Zappel HF, APN Arbeitsgemeinschaft für Pädiatrische Nephrologie.
    Clin Nephrol; 2003 May 01; 59(5):353-9. PubMed ID: 12779097
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  • 39. The molecular basis of cystinuria: an update.
    Goodyer P, Boutros M, Rozen R.
    Exp Nephrol; 2000 May 01; 8(3):123-7. PubMed ID: 10810228
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  • 40. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
    Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V.
    J Med Genet; 2005 Jan 01; 42(1):58-68. PubMed ID: 15635077
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