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Page 1
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R. Mansour-Hendili L, et al. Among authors: houillier p. Hum Mutat. 2015 Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11. Hum Mutat. 2015. PMID: 25907713 Review.
Inactivation of the Na-Cl co-transporter (NCC) gene is associated with high BMD through both renal and bone mechanisms: analysis of patients with Gitelman syndrome and Ncc null mice.
Nicolet-Barousse L, Blanchard A, Roux C, Pietri L, Bloch-Faure M, Kolta S, Chappard C, Geoffroy V, Morieux C, Jeunemaitre X, Shull GE, Meneton P, Paillard M, Houillier P, De Vernejoul MC. Nicolet-Barousse L, et al. Among authors: houillier p. J Bone Miner Res. 2005 May;20(5):799-808. doi: 10.1359/JBMR.041238. Epub 2004 Dec 27. J Bone Miner Res. 2005. PMID: 15824853 Free article.
What serum calcium can tell us and what it can't.
Houillier P, Froissart M, Maruani G, Blanchard A. Houillier P, et al. Nephrol Dial Transplant. 2006 Jan;21(1):29-32. doi: 10.1093/ndt/gfi268. Epub 2005 Nov 15. Nephrol Dial Transplant. 2006. PMID: 16287914 Review. No abstract available.
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A. Vargas-Poussou R, et al. Among authors: houillier p. J Am Soc Nephrol. 2006 May;17(5):1437-43. doi: 10.1681/ASN.2005121305. Epub 2006 Apr 12. J Am Soc Nephrol. 2006. PMID: 16611712
Defective ENaC processing and function in tissue kallikrein-deficient mice.
Picard N, Eladari D, El Moghrabi S, Planès C, Bourgeois S, Houillier P, Wang Q, Burnier M, Deschenes G, Knepper MA, Meneton P, Chambrey R. Picard N, et al. Among authors: houillier p. J Biol Chem. 2008 Feb 22;283(8):4602-11. doi: 10.1074/jbc.M705664200. Epub 2007 Dec 17. J Biol Chem. 2008. PMID: 18086683 Free article.
[Exploration of renal tubular functions].
Blanchard A, Poussou R, Houillier P. Blanchard A, et al. Among authors: houillier p. Nephrol Ther. 2009 Feb;5(1):68-83. doi: 10.1016/j.nephro.2008.03.004. Epub 2008 Jun 9. Nephrol Ther. 2009. PMID: 18539554 French.
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: houillier p. 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.
236 results