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561 results

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Page 1
Clinical utility gene card for: Cystinuria.
Eggermann T, Zerres K, Nunes V, Font-Llitjós M, Bisceglia L, Chatzikyriakidou A, dello Strologo L, Pras E, Creemers J, Palacin M. Eggermann T, et al. Among authors: nunes v. Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.163. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863055 Free PMC article. No abstract available.
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. Dello Strologo L, et al. Among authors: nunes v. J Am Soc Nephrol. 2002 Oct;13(10):2547-53. doi: 10.1097/01.asn.0000029586.17680.e5. J Am Soc Nephrol. 2002. PMID: 12239244
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. Among authors: nunes v. 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
The amino acid transporter asc-1 is not involved in cystinuria.
Pineda M, Font M, Bassi MT, Manzoni M, Borsani G, Marigo V, Fernández E, Río RM, Purroy J, Zorzano A, Nunes V, Palacín M. Pineda M, et al. Among authors: nunes v. Kidney Int. 2004 Oct;66(4):1453-64. doi: 10.1111/j.1523-1755.2004.00908.x. Kidney Int. 2004. PMID: 15458438 Free article.
The genetics of heteromeric amino acid transporters.
Palacín M, Nunes V, Font-Llitjós M, Jiménez-Vidal M, Fort J, Gasol E, Pineda M, Feliubadaló L, Chillarón J, Zorzano A. Palacín M, et al. Among authors: nunes v. Physiology (Bethesda). 2005 Apr;20:112-24. doi: 10.1152/physiol.00051.2004. Physiology (Bethesda). 2005. PMID: 15772300 Free article. Review.
Gene symbol: SLC3A1. Disease: cystinuria.
Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V. Nunes V, et al. Hum Genet. 2005 Feb;116(3):231. Hum Genet. 2005. PMID: 15818800 No abstract available.
Gene symbol: SLC3A1. Disease: cystinuria.
Nunes V, Font-Llitjós M, Jiménez-Vidal M, Biceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V. Nunes V, et al. Hum Genet. 2005 Feb;116(3):232. Hum Genet. 2005. PMID: 15818801 No abstract available.
Gene symbol: SLC3A1. Disease: Cystinuria.
Nunes V, Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V. Nunes V, et al. Hum Genet. 2005 May;116(6):541. Hum Genet. 2005. PMID: 15991324 No abstract available.
Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.
Font-Llitjós M, Feliubadaló L, Espino M, Clèries R, Mañas S, Frey IM, Puertas S, Colell G, Palomo S, Aranda J, Visa J, Palacín M, Nunes V. Font-Llitjós M, et al. Among authors: nunes v. Am J Physiol Renal Physiol. 2007 Sep;293(3):F732-40. doi: 10.1152/ajprenal.00121.2007. Epub 2007 Jun 27. Am J Physiol Renal Physiol. 2007. PMID: 17596531 Free article.
561 results