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PUBMED FOR HANDHELDS

Journal Abstract Search


290 related items for PubMed ID: 28166740

  • 1. Delineation of cystinuria in Saudi Arabia: A case series.
    Obaid A, Nashabat M, Al Fakeeh K, Al Qahtani AT, Alfadhel M.
    BMC Nephrol; 2017 Feb 06; 18(1):50. PubMed ID: 28166740
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  • 3. 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 06; 10(1):44-7. PubMed ID: 26837681
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  • 4. 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 06; 69(1):123-8. PubMed ID: 16374432
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  • 7. 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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  • 9. Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
    Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota Mdo C, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML.
    Clin Genet; 2012 Jan 07; 81(1):47-55. PubMed ID: 21255007
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  • 10. 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 07; 12(3):351-5. PubMed ID: 18752446
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  • 11. 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 Sep 07; 10(9):e0137277. PubMed ID: 26359869
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  • 13. 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 07; 99(1):42-52. PubMed ID: 19782624
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  • 16. 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. Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients.
    Chatzikyriakidou A, Sofikitis N, Georgiou I.
    Genet Test; 2005 Jul 01; 9(3):175-84. PubMed ID: 16225397
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  • 19. 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. The molecular basis of cystinuria.
    Goodyer P.
    Nephron Exp Nephrol; 2004 Feb 01; 98(2):e45-9. PubMed ID: 15499206
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