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Journal Abstract Search

175 related items for PubMed ID: 24045899

  • 1. 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; 29(1):155-9. PubMed ID: 24045899
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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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  • 3. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.
    Brons AK, Henthorn PS, Raj K, Fitzgerald CA, Liu J, Sewell AC, Giger U.
    J Vet Intern Med; 2013 Sep; 27(6):1400-8. PubMed ID: 24001348
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  • 8. 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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  • 9. 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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  • 13. 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 07; 43(5):447-53. PubMed ID: 26123750
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  • 14. 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 Oct 07; 10(9):e0137277. PubMed ID: 26359869
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  • 16. In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.
    Mahdavi M, Koulivand L, Khorrami M, Mirsafaie M, Kheirollahi M.
    Mol Biol Rep; 2018 Oct 07; 45(5):1165-1173. PubMed ID: 30069816
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  • 17. Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children.
    Ma YY, Liu YP, Li D, Li XY, Song JQ, Yang YL.
    Clin Lab; 2018 Jul 01; 64(7):1145-1151. PubMed ID: 30146843
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  • 18. Transient neonatal cystinuria.
    Boutros M, Vicanek C, Rozen R, Goodyer P.
    Kidney Int; 2005 Feb 01; 67(2):443-8. PubMed ID: 15673291
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  • 20. A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice.
    Sasaki H, Sasaki T, Hiura K, Watanabe M, Sasaki N.
    Urolithiasis; 2022 Dec 01; 50(6):679-684. PubMed ID: 35988091
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