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High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C, Koumakis E, Iancu D, Belge H, Hilbert P, Rotthier A, Del Favero J, Schaefer F, Kleta R, Bockenhauer D, Jeunemaitre X, Devuyst O, Walsh SB, Vargas-Poussou R. Hureaux M, et al. Among authors: blanchard a. Kidney Int. 2019 Dec;96(6):1408-1416. doi: 10.1016/j.kint.2019.08.027. Epub 2019 Sep 16. Kidney Int. 2019. PMID: 31672324 Free article.
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: blanchard a. 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. Among authors: blanchard a. 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: blanchard a. 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
750 results