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Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O. Riveira-Munoz E, et al. Among authors: devuyst o. Pediatr Nephrol. 2007 Mar;22(3):326-32. doi: 10.1007/s00467-006-0321-1. Epub 2006 Oct 24. Pediatr Nephrol. 2007. PMID: 17061123 Review.
Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.
Riveira-Munoz E, Devuyst O, Belge H, Jeck N, Strompf L, Vargas-Poussou R, Jeunemaître X, Blanchard A, Knoers NV, Konrad M, Dahan K. Riveira-Munoz E, et al. Among authors: devuyst o. Nephrol Dial Transplant. 2008 Oct;23(10):3120-5. doi: 10.1093/ndt/gfn229. Epub 2008 May 9. Nephrol Dial Transplant. 2008. PMID: 18469313
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, Haymann JP, Vantyghem MC, Rigothier C, Dussol B, Godin M, Nivet H, Dubourg L, Tack I, Gimenez-Roqueplo AP, Houillier P, Blanchard A, Devuyst O, Jeunemaitre X. Vargas-Poussou R, et al. Among authors: devuyst o. J Am Soc Nephrol. 2011 Apr;22(4):693-703. doi: 10.1681/ASN.2010090907. Epub 2011 Mar 17. J Am Soc Nephrol. 2011. PMID: 21415153 Free PMC article.
Renal expression of parvalbumin is critical for NaCl handling and response to diuretics.
Belge H, Gailly P, Schwaller B, Loffing J, Debaix H, Riveira-Munoz E, Beauwens R, Devogelaer JP, Hoenderop JG, Bindels RJ, Devuyst O. Belge H, et al. Among authors: devuyst o. Proc Natl Acad Sci U S A. 2007 Sep 11;104(37):14849-54. doi: 10.1073/pnas.0702810104. Epub 2007 Sep 5. Proc Natl Acad Sci U S A. 2007. PMID: 17804801 Free PMC article.
CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.
Stuiver M, Lainez S, Will C, Terryn S, Günzel D, Debaix H, Sommer K, Kopplin K, Thumfart J, Kampik NB, Querfeld U, Willnow TE, Němec V, Wagner CA, Hoenderop JG, Devuyst O, Knoers NV, Bindels RJ, Meij IC, Müller D. Stuiver M, et al. Among authors: devuyst o. Am J Hum Genet. 2011 Mar 11;88(3):333-43. doi: 10.1016/j.ajhg.2011.02.005. Am J Hum Genet. 2011. PMID: 21397062 Free PMC article.
Learning Physiology From Inherited Kidney Disorders.
van der Wijst J, Belge H, Bindels RJM, Devuyst O. van der Wijst J, et al. Among authors: devuyst o. Physiol Rev. 2019 Jul 1;99(3):1575-1653. doi: 10.1152/physrev.00008.2018. Physiol Rev. 2019. PMID: 31215303 Free article. Review.
Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
de Baaij JH, Dorresteijn EM, Hennekam EA, Kamsteeg EJ, Meijer R, Dahan K, Muller M, van den Dorpel MA, Bindels RJ, Hoenderop JG, Devuyst O, Knoers NV. de Baaij JH, et al. Among authors: devuyst o. Nephrol Dial Transplant. 2015 Jun;30(6):952-7. doi: 10.1093/ndt/gfv014. Epub 2015 Mar 11. Nephrol Dial Transplant. 2015. PMID: 25765846 Free article.
New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
Leduc-Nadeau A, Lussier Y, Arthus MF, Lonergan M, Martinez-Aguayo A, Riveira-Munoz E, Devuyst O, Bissonnette P, Bichet DG. Leduc-Nadeau A, et al. Among authors: devuyst o. J Physiol. 2010 Jun 15;588(Pt 12):2205-18. doi: 10.1113/jphysiol.2010.187674. Epub 2010 Apr 19. J Physiol. 2010. PMID: 20403973 Free PMC article.
458 results