214 related articles for article (PubMed ID: 14531788)
1. 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;
Kidney Int; 2003 Nov; 64(5):1564-72. PubMed ID: 14531788
[TBL] [Abstract][Full Text] [Related]
2. 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; 99(1):42-52. PubMed ID: 19782624
[TBL] [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;
Kidney Int; 2002 Oct; 62(4):1136-42. PubMed ID: 12234283
[TBL] [Abstract][Full Text] [Related]
4. 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; 57(5):342-8. PubMed ID: 12036192
[TBL] [Abstract][Full Text] [Related]
5. Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
Harnevik L; Fjellstedt E; Molbaek A; Denneberg T; Söderkvist P
Genet Test; 2003; 7(1):13-20. PubMed ID: 12820697
[TBL] [Abstract][Full Text] [Related]
6. 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; 62(5):1550-9. PubMed ID: 12371955
[TBL] [Abstract][Full Text] [Related]
7. Genomic organization of SLC3A1, a transporter gene mutated in cystinuria.
Pras E; Sood R; Raben N; Aksentijevich I; Chen X; Kastner DL
Genomics; 1996 Aug; 36(1):163-7. PubMed ID: 8812428
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [Abstract][Full Text] [Related]
9. 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;
Urol Res; 2004 May; 32(2):75-8. PubMed ID: 14991253
[TBL] [Abstract][Full Text] [Related]
10. 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
[TBL] [Abstract][Full Text] [Related]
11. 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
[TBL] [Abstract][Full Text] [Related]
12. 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
[TBL] [Abstract][Full Text] [Related]
13. Mutations in the SLC3A1 gene in cystinuric patients: frequencies and identification of a novel mutation.
Albers A; Lahme S; Wagner C; Kaiser P; Zerres K; Capasso G; Pica A; Palacin M; Lang F; Bichler KH; Eggermann T
Genet Test; 1999; 3(2):227-31. PubMed ID: 10464673
[TBL] [Abstract][Full Text] [Related]
14. Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria.
Gitomer WL; Reed BY; Ruml LA; Sakhaee K; Pak CY
J Clin Endocrinol Metab; 1998 Oct; 83(10):3688-94. PubMed ID: 9768685
[TBL] [Abstract][Full Text] [Related]
15. [From gene to disease; SLC3A1, SLC7A9 and cystinuria].
Breuning MH; Hamdy NA
Ned Tijdschr Geneeskd; 2003 Feb; 147(6):245-7. PubMed ID: 12621979
[TBL] [Abstract][Full Text] [Related]
16. Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.
Egoshi KI; Akakura K; Kodama T; Ito H
Kidney Int; 2000 Jan; 57(1):25-32. PubMed ID: 10620184
[TBL] [Abstract][Full Text] [Related]
17. 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;
Hum Mol Genet; 2001 Feb; 10(4):305-16. PubMed ID: 11157794
[TBL] [Abstract][Full Text] [Related]
18. 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; 31(6):417-25. PubMed ID: 14586528
[TBL] [Abstract][Full Text] [Related]
19. 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; 81(1):47-55. PubMed ID: 21255007
[TBL] [Abstract][Full Text] [Related]
20. Cystinuria at the turn of the millennium: clinical aspects and new molecular developments.
Pras E
Mol Urol; 2000; 4(4):409-14. PubMed ID: 11156709
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
