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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: de la faille r. Hum Mutat. 2015 Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11. Hum Mutat. 2015. PMID: 25907713 Review.
A pseudo-dominant form of Gitelman's syndrome.
de La Faille R, Vallet M, Venisse A, Nau V, Collet-Gaudillat C, Houillier P, Jeunemaitre X, Vargas-Poussou R. de La Faille R, et al. NDT Plus. 2011 Dec;4(6):386-9. doi: 10.1093/ndtplus/sfr094. Epub 2011 Aug 22. NDT Plus. 2011. PMID: 25984200 Free PMC article.
Observations of a large Dent disease cohort.
Blanchard A, Curis E, Guyon-Roger T, Kahila D, Treard C, Baudouin V, Bérard E, Champion G, Cochat P, Dubourg J, de la Faille R, Devuyst O, Deschenes G, Fischbach M, Harambat J, Houillier P, Karras A, Knebelmann B, Lavocat MP, Loirat C, Merieau E, Niaudet P, Nobili F, Novo R, Salomon R, Ulinski T, Jeunemaître X, Vargas-Poussou R. Blanchard A, et al. Among authors: de la faille r. Kidney Int. 2016 Aug;90(2):430-439. doi: 10.1016/j.kint.2016.04.022. Epub 2016 Jun 22. Kidney Int. 2016. PMID: 27342959 Free article.
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.
Yamaguti PM, Neves FA, Hotton D, Bardet C, de La Dure-Molla M, Castro LC, Scher MD, Barbosa ME, Ditsch C, Fricain JC, de La Faille R, Figueres ML, Vargas-Poussou R, Houillier P, Chaussain C, Babajko S, Berdal A, Acevedo AC. Yamaguti PM, et al. Among authors: de la dure molla m, de la faille r. J Med Genet. 2017 Jan;54(1):26-37. doi: 10.1136/jmedgenet-2016-103956. Epub 2016 Aug 16. J Med Genet. 2017. PMID: 27530400
Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study.
Blanchard A, Vallet M, Dubourg L, Hureaux M, Allard J, Haymann JP, de la Faille R, Arnoux A, Dinut A, Bergerot D, Becker PH, Courand PY, Baron S, Houillier P, Tack I, Devuyst O, Jeunemaitre X, Azizi M, Vargas-Poussou R. Blanchard A, et al. Among authors: de la faille r. J Am Soc Nephrol. 2019 Aug;30(8):1534-1545. doi: 10.1681/ASN.2019010031. Epub 2019 Jul 8. J Am Soc Nephrol. 2019. PMID: 31285285 Free PMC article.
Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients.
Bertocchio JP, Genetet S, Da Costa L, Walsh SB, Knebelmann B, Galimand J, Bessenay L, Guitton C, De Lafaille R, Vargas-Poussou R, Eladari D, Mouro-Chanteloup I. Bertocchio JP, et al. Kidney Int Rep. 2020 Jan 13;5(3):348-357. doi: 10.1016/j.ekir.2019.12.020. eCollection 2020 Mar. Kidney Int Rep. 2020. PMID: 32154456 Free PMC article.
Pitfalls of measuring total blood calcium in patients with CKD.
Gauci C, Moranne O, Fouqueray B, de la Faille R, Maruani G, Haymann JP, Jacquot C, Boffa JJ, Flamant M, Rossert J, Urena P, Stengel B, Souberbielle JC, Froissart M, Houillier P; NephroTest Study Group. Gauci C, et al. Among authors: de la faille r. J Am Soc Nephrol. 2008 Aug;19(8):1592-8. doi: 10.1681/ASN.2007040449. Epub 2008 Apr 9. J Am Soc Nephrol. 2008. PMID: 18400941 Free PMC article.
Arterial remodeling associates with CKD progression.
Briet M, Collin C, Karras A, Laurent S, Bozec E, Jacquot C, Stengel B, Houillier P, Froissart M, Boutouyrie P; Nephrotest Study Group. Briet M, et al. J Am Soc Nephrol. 2011 May;22(5):967-74. doi: 10.1681/ASN.2010080863. Epub 2011 Apr 14. J Am Soc Nephrol. 2011. PMID: 21493771 Free PMC article.
Estimation of renal function in patients with diabetes.
Rigalleau V, Beauvieux MC, Gonzalez C, Raffaitin C, Lasseur C, Combe C, Chauveau P, De la Faille R, Rigothier C, Barthe N, Gin H. Rigalleau V, et al. Among authors: de la faille r. Diabetes Metab. 2011 Nov;37(5):359-66. doi: 10.1016/j.diabet.2011.05.002. Epub 2011 Jun 15. Diabetes Metab. 2011. PMID: 21680218 Review.
27 results