Similar articles for PMID: 15635077

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1

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. Font-Llitjós M, et al. J Med Genet. 2005 Jan;42(1):58-68. doi: 10.1136/jmg.2004.022244. J Med Genet. 2005. PMID: 15635077 Free PMC article.

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. Skopková Z, et al. Ann Hum Genet. 2005 Sep;69(Pt 5):501-7. doi: 10.1111/j.1529-8817.2005.00185.x. Ann Hum Genet. 2005. PMID: 16138908

3

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. Espino M, et al. PLoS One. 2015 Sep 11;10(9):e0137277. doi: 10.1371/journal.pone.0137277. eCollection 2015. PLoS One. 2015. PMID: 26359869 Free PMC article.

4

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. Barbosa M, et al. Clin Genet. 2012 Jan;81(1):47-55. doi: 10.1111/j.1399-0004.2011.01638.x. Epub 2011 Feb 14. Clin Genet. 2012. PMID: 21255007

5

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. Feliubadaló L, et al. Hum Mol Genet. 2003 Sep 1;12(17):2097-108. doi: 10.1093/hmg/ddg228. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915471

6

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. de Sanctis L, et al. Clin Nephrol. 2001 Dec;56(6):467-74. Clin Nephrol. 2001. PMID: 11770798

7

Cystinuria at the turn of the millennium: clinical aspects and new molecular developments.

Pras E. Pras E. Mol Urol. 2000 Winter;4(4):409-14. Mol Urol. 2000. PMID: 11156709 Review.

8

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. Guillén M, et al. Clin Genet. 2005 Mar;67(3):240-51. doi: 10.1111/j.1399-0004.2004.00393.x. Clin Genet. 2005. PMID: 15691362

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). Botzenhart E, et al. Kidney Int. 2002 Oct;62(4):1136-42. doi: 10.1111/j.1523-1755.2002.kid552.x. Kidney Int. 2002. PMID: 12234283 Free article.

10

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. Yuen YP, et al. Kidney Int. 2006 Jan;69(1):123-8. doi: 10.1038/sj.ki.5000003. Kidney Int. 2006. PMID: 16374432 Free article.

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