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273 related items for PubMed ID: 12239244

  • 1. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
    Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacín M, Rizzoni G.
    J Am Soc Nephrol; 2002 Oct; 13(10):2547-53. PubMed ID: 12239244
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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 15; 62(4):1136-42. PubMed ID: 12234283
    [Abstract] [Full Text] [Related]

  • 4. 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 15; 62(5):1550-9. PubMed ID: 12371955
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 57(5):342-8. PubMed ID: 12036192
    [Abstract] [Full Text] [Related]

  • 6. [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]

  • 7. 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 08; 31(6):417-25. PubMed ID: 14586528
    [Abstract] [Full Text] [Related]

  • 8. Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
    Harnevik L, Fjellstedt E, Molbaek A, Denneberg T, Söderkvist P.
    Genet Test; 2003 Dec 08; 7(1):13-20. PubMed ID: 12820697
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 08; 69(Pt 5):501-7. PubMed ID: 16138908
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Cystinuria at the turn of the millennium: clinical aspects and new molecular developments.
    Pras E.
    Mol Urol; 2000 Sep 01; 4(4):409-14. PubMed ID: 11156709
    [Abstract] [Full Text] [Related]

  • 13. Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype.
    Saadi I, Chen XZ, Hediger M, Ong P, Pereira P, Goodyer P, Rozen R.
    Kidney Int; 1998 Jul 01; 54(1):48-55. PubMed ID: 9648062
    [Abstract] [Full Text] [Related]

  • 14. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
    Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V.
    J Med Genet; 2005 Jan 01; 42(1):58-68. PubMed ID: 15635077
    [Abstract] [Full Text] [Related]

  • 15. Association between M467T and 114 C-->A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.
    Guillén M, Corella D, Cabello ML, García AM, Portolés O, Hernández-Yago J.
    Hum Genet; 2000 Mar 01; 106(3):314-20. PubMed ID: 10798361
    [Abstract] [Full Text] [Related]

  • 16. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
    Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M, International Cystinuria Consortium.
    Nat Genet; 1999 Sep 01; 23(1):52-7. PubMed ID: 10471498
    [Abstract] [Full Text] [Related]

  • 17. Cystinuria type I: identification of eight new mutations in SLC3A1.
    Bisceglia L, Purroy J, Jiménez-Vidal M, d'Adamo AP, Rousaud F, Beccia E, Penza R, Rizzoni G, Gallucci M, Palacín M, Gasparini P, Nunes V, Zelante L.
    Kidney Int; 2001 Apr 01; 59(4):1250-6. PubMed ID: 11260385
    [Abstract] [Full Text] [Related]

  • 18. Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
    Schmidt C, Vester U, Wagner CA, Lahme S, Hesse A, Hoyer P, Lang F, Zerres K, Eggermann T, Arbeitsgemeinschaft für Pädiatrische Nephrologie.
    Kidney Int; 2003 Nov 01; 64(5):1564-72. PubMed ID: 14531788
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 29(1):155-9. PubMed ID: 24045899
    [Abstract] [Full Text] [Related]

  • 20. 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 Jan 01; 10(9):e0137277. PubMed ID: 26359869
    [Abstract] [Full Text] [Related]

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