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Journal Abstract Search

323 related items for PubMed ID: 28585658

  • 1. [Cystinuria caused by a SLC7A9 missense mutation in Siamese-crossbred littermates in Germany].
    Hilton S, Mizukami K, Giger U.
    Tierarztl Prax Ausg K Kleintiere Heimtiere; 2017 Aug 11; 45(4):265-272. PubMed ID: 28585658
    [Abstract] [Full Text] [Related]

  • 2. Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat.
    Mizukami K, Raj K, Osborne C, Giger U.
    PLoS One; 2016 Aug 11; 11(7):e0159247. PubMed ID: 27404572
    [Abstract] [Full Text] [Related]

  • 3. Feline cystinuria caused by a missense mutation in the SLC3A1 gene.
    Mizukami K, Raj K, Giger U.
    J Vet Intern Med; 2015 Jan 11; 29(1):120-5. PubMed ID: 25417848
    [Abstract] [Full Text] [Related]

  • 4. Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds.
    Fjellstedt E, Harnevik L, Jeppsson JO, Tiselius HG, Söderkvist P, Denneberg T.
    Urol Res; 2003 Dec 11; 31(6):417-25. PubMed ID: 14586528
    [Abstract] [Full Text] [Related]

  • 5. Cystinuria in a cat.
    DiBartola SP, Chew DJ, Horton ML.
    J Am Vet Med Assoc; 1991 Jan 01; 198(1):102-4. PubMed ID: 1995560
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 69(Pt 5):501-7. PubMed ID: 16138908
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 27(6):1400-8. PubMed ID: 24001348
    [Abstract] [Full Text] [Related]

  • 8. SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria.
    Harnevik L, Hoppe A, Söderkvist P.
    Mamm Genome; 2006 Jul 01; 17(7):769-76. PubMed ID: 16845473
    [Abstract] [Full Text] [Related]

  • 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 01; 62(4):1136-42. PubMed ID: 12234283
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?
    Kovaříková S, Maršálek P, Vrbová K.
    Animals (Basel); 2021 Aug 19; 11(8):. PubMed ID: 34438894
    [Abstract] [Full Text] [Related]

  • 12. Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
    Lee EH, Kim YH, Hwang JS, Kim SH.
    J Korean Med Sci; 2010 Jan 19; 25(1):172-5. PubMed ID: 20052367
    [Abstract] [Full Text] [Related]

  • 13. 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 19; 50(6):679-684. PubMed ID: 35988091
    [Abstract] [Full Text] [Related]

  • 14. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
    Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernández E, Zorzano A, Bertran J, Palacín M, International Cystinuria Consortium.
    Hum Mol Genet; 2001 Feb 15; 10(4):305-16. PubMed ID: 11157794
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 69(7):1198-206. PubMed ID: 16609684
    [Abstract] [Full Text] [Related]

  • 16. [From gene to disease; SLC3A1, SLC7A9 and cystinuria].
    Breuning MH, Hamdy NA.
    Ned Tijdschr Geneeskd; 2003 Feb 08; 147(6):245-7. PubMed ID: 12621979
    [Abstract] [Full Text] [Related]

  • 17. 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 08; 10(1):44-7. PubMed ID: 26837681
    [Abstract] [Full Text] [Related]

  • 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 08; 62(5):1550-9. PubMed ID: 12371955
    [Abstract] [Full Text] [Related]

  • 19. 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 08; 56(6):467-74. PubMed ID: 11770798
    [Abstract] [Full Text] [Related]

  • 20. A case of early onset cystinuria in a 4-month-old girl.
    Ikeyama S, Kanda S, Sakamoto S, Sakoda A, Miura K, Yoneda R, Nogi A, Ariji S, Shimoda M, Ono M, Kanda S, Yokoyama S, Takahashi K, Yokoyama Y, Hattori M.
    CEN Case Rep; 2022 May 08; 11(2):216-219. PubMed ID: 34669168
    [Abstract] [Full Text] [Related]

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