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Journal Abstract Search

220 related items for PubMed ID: 28270646

  • 1. 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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  • 2. Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
    Skopková Z, Hrabincová E, Stástná S, Kozák L, Adam T.
    Ann Hum Genet; 2005 Sep; 69(Pt 5):501-7. PubMed ID: 16138908
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  • 5. 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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  • 6. Cystinuria in a patient with a novel mutation in SLC7A9 gene.
    Koulivand L, Mohammadi M, Ezatpour B, Kheirollahi M.
    Iran J Kidney Dis; 2015 Jan; 9(1):63-6. PubMed ID: 25599739
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  • 7. 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; 99(1):42-52. PubMed ID: 19782624
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  • 8. 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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  • 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; 62(4):1136-42. PubMed ID: 12234283
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  • 10. SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria.
    Harnevik L, Hoppe A, Söderkvist P.
    Mamm Genome; 2006 Jul; 17(7):769-76. PubMed ID: 16845473
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  • 11. 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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  • 13. A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
    Shigeta Y, Kanai Y, Chairoungdua A, Ahmed N, Sakamoto S, Matsuo H, Kim DK, Fujimura M, Anzai N, Mizoguchi K, Ueda T, Akakura K, Ichikawa T, Ito H, Endou H.
    Kidney Int; 2006 Apr; 69(7):1198-206. PubMed ID: 16609684
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  • 14. Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
    Harnevik L, Fjellstedt E, Molbaek A, Denneberg T, Söderkvist P.
    Genet Test; 2003 Apr; 7(1):13-20. PubMed ID: 12820697
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  • 15. Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.
    Di Perna M, Louizou E, Fischetti L, Dedoussis GV, Stanziale P, Michelakakis H, Zelante L, Pras E, Bisceglia L.
    Genet Test; 2008 Sep; 12(3):351-5. PubMed ID: 18752446
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  • 17. Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease.
    Schmidt C, Albers A, Tomiuk J, Eggermann K, Wagner C, Capasso G, Lahme S, Hesse A, Lang F, Zerres K, Eggermann T.
    Clin Nephrol; 2002 May; 57(5):342-8. PubMed ID: 12036192
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  • 18. SLC7A9 mutations in all three cystinuria subtypes.
    Leclerc D, Boutros M, Suh D, Wu Q, Palacin M, Ellis JR, Goodyer P, Rozen R.
    Kidney Int; 2002 Nov; 62(5):1550-9. PubMed ID: 12371955
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  • 19. Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
    Rhodes HL, Yarram-Smith L, Rice SJ, Tabaksert A, Edwards N, Hartley A, Woodward MN, Smithson SL, Tomson C, Welsh GI, Williams M, Thwaites DT, Sayer JA, Coward RJ.
    Clin J Am Soc Nephrol; 2015 Jul 07; 10(7):1235-45. PubMed ID: 25964309
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  • 20. Molecular characterization of cystinuria in south-eastern European countries.
    Popovska-Jankovic K, Tasic V, Bogdanovic R, Miljkovic P, Golubovic E, Soylu A, Saraga M, Pavicevic S, Baskin E, Akil I, Gregoric A, Lilova M, Topaloglu R, Sukarova Stefanovska E, Plaseska-Karanfilska D.
    Urolithiasis; 2013 Feb 07; 41(1):21-30. PubMed ID: 23532419
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