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Journal Abstract Search

194 related items for PubMed ID: 12779097

  • 1. Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.
    Schmidt C, Tomiuk J, Botzenhart E, Vester U, Halber M, Hesse A, Wagner C, Lahme S, Lang F, Zerres K, Eggermann T, Bachmann H, Bökenkamp A, Fischbach M, Fründ S, Pistor KG, Zappel HF, APN Arbeitsgemeinschaft für Pädiatrische Nephrologie.
    Clin Nephrol; 2003 May; 59(5):353-9. PubMed ID: 12779097
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. Functional analysis of a new splice site mutation, c.605-3C>A, in the cystinuria gene SLC7A9 leading to exon skipping.
    Schmidt C, Lahme S, Zerres K, Eggermann T.
    Mol Genet Metab; 2005 Feb; 84(2):172-5. PubMed ID: 15670723
    [Abstract] [Full Text] [Related]

  • 4. Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
    Harnevik L, Fjellstedt E, Molbaek A, Tiselius HG, Denneberg T, Söderkvist P.
    Hum Mutat; 2001 Dec; 18(6):516-25. PubMed ID: 11748844
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.
    Guillén M, Corella D, Cabello ML, González JI, Sabater A, Chaves JF, Hernández-Yago J.
    Clin Genet; 2005 Mar 01; 67(3):240-51. PubMed ID: 15691362
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 81(1):47-55. PubMed ID: 21255007
    [Abstract] [Full Text] [Related]

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

  • 10. The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
    Schmidt C, Vester U, Hesse A, Lahme S, Lang F, Zerres K, Eggermann T, Arbeitsgemeinschaft Pädiatrische Nephrologie.
    Urol Res; 2004 May 01; 32(2):75-8. PubMed ID: 14991253
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 62(5):1550-9. PubMed ID: 12371955
    [Abstract] [Full Text] [Related]

  • 12. Identification of novel cystinuria mutations in pediatric patients.
    Brauers E, Hozyasz K, Golabek B, Slowik M, Schmidt C, Vester U, Zerres K, Eggermann T.
    J Pediatr Urol; 2006 Dec 01; 2(6):575-8. PubMed ID: 18947684
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 57(5):342-8. PubMed ID: 12036192
    [Abstract] [Full Text] [Related]

  • 14. Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
    Harnevik L, Fjellstedt E, Molbaek A, Denneberg T, Söderkvist P.
    Genet Test; 2003 May 01; 7(1):13-20. PubMed ID: 12820697
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 01; 56(6):467-74. PubMed ID: 11770798
    [Abstract] [Full Text] [Related]

  • 17. Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype.
    Brauers E, Schmidt C, Zerres K, Eggermann T.
    Clin Nephrol; 2006 Apr 01; 65(4):262-6. PubMed ID: 16629225
    [Abstract] [Full Text] [Related]

  • 18. [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]

  • 19. Dating the origin of the V170M mutation causing non-type I cystinuria in Libyan Jews by linkage disequilibrium and physical mapping of the SLC7A9 gene.
    Colombo R.
    Genomics; 2000 Oct 01; 69(1):131-4. PubMed ID: 11013083
    [Abstract] [Full Text] [Related]

  • 20. 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 Oct 01; 9(3):175-84. PubMed ID: 16225397
    [Abstract] [Full Text] [Related]

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