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Journal Abstract Search

308 related items for PubMed ID: 30069816

  • 1. 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; 45(5):1165-1173. PubMed ID: 30069816
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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. 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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  • 6. 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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  • 7. 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; 69(1):123-8. PubMed ID: 16374432
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  • 9. 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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  • 10. 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 Feb 06; 10(9):e0137277. PubMed ID: 26359869
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  • 11. 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 06; 81(1):47-55. PubMed ID: 21255007
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  • 13. Transient neonatal cystinuria.
    Boutros M, Vicanek C, Rozen R, Goodyer P.
    Kidney Int; 2005 Feb 06; 67(2):443-8. PubMed ID: 15673291
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  • 14. 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 06; 69(7):1198-206. PubMed ID: 16609684
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  • 16. 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 06; 99(1):42-52. PubMed ID: 19782624
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  • 17. 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 Jan 06; 27(6):1400-8. PubMed ID: 24001348
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  • 19. 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 06; 50(6):679-684. PubMed ID: 35988091
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  • 20. 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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