221 related articles for article (PubMed ID: 28270646)
1. A Novel Mutation in SLC7A9 Gene in Cystinuria.
Fazaeli S; Ashouri S; Kheirollahi M; Mohammadi M; Fazilati M
Iran J Kidney Dis; 2017 Mar; 11(2):138-141. PubMed ID: 28270646
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
3. 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; 10(1):44-7. PubMed ID: 26837681
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. Cystinuria in a patient with a novel mutation in SLC7A9 gene.
Koulivand L; Mohammadi M; Ezatpour B; Kheirollahi M
Iran J Kidney Dis; 2015 Jan; 9(1):63-6. PubMed ID: 25599739
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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
[TBL] [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;
Kidney Int; 2002 Oct; 62(4):1136-42. PubMed ID: 12234283
[TBL] [Abstract][Full Text] [Related]
10. SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria.
Harnevik L; Hoppe A; Söderkvist P
Mamm Genome; 2006 Jul; 17(7):769-76. PubMed ID: 16845473
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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; 9(3):175-84. PubMed ID: 16225397
[TBL] [Abstract][Full Text] [Related]
13. 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; 69(7):1198-206. PubMed ID: 16609684
[TBL] [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; 7(1):13-20. PubMed ID: 12820697
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
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; 62(5):1550-9. PubMed ID: 12371955
[TBL] [Abstract][Full Text] [Related]
19. 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; 10(7):1235-45. PubMed ID: 25964309
[TBL] [Abstract][Full Text] [Related]
20. Molecular characterization of cystinuria in south-eastern European countries.
Popovska-Jankovic K; Tasic V; Bogdanovic R; Miljkovic P; Golubovic E; Soylu A; Saraga M; Pavicevic S; Baskin E; Akil I; Gregoric A; Lilova M; Topaloglu R; Sukarova Stefanovska E; Plaseska-Karanfilska D
Urolithiasis; 2013 Feb; 41(1):21-30. PubMed ID: 23532419
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]