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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: knebelmann b. Hum Mutat. 2015 Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11. Hum Mutat. 2015. PMID: 25907713 Review.
Genetic, clinical, and morphologic heterogeneity in Alport's syndrome.
Gubler MC, Antignac C, Deschênes G, Knebelmann B, Hors-Cayla MC, Grünfeld JP, Broyer M, Habib R. Gubler MC, et al. Among authors: knebelmann b. Adv Nephrol Necker Hosp. 1993;22:15-35. Adv Nephrol Necker Hosp. 1993. PMID: 8427057 Review. No abstract available.
Steroid-sensitive nephrotic syndrome: from childhood to adulthood.
Fakhouri F, Bocquet N, Taupin P, Presne C, Gagnadoux MF, Landais P, Lesavre P, Chauveau D, Knebelmann B, Broyer M, Grünfeld JP, Niaudet P. Fakhouri F, et al. Among authors: knebelmann b. Am J Kidney Dis. 2003 Mar;41(3):550-7. doi: 10.1053/ajkd.2003.50116. Am J Kidney Dis. 2003. PMID: 12612977
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R. Heidet L, et al. Among authors: knebelmann b. Clin J Am Soc Nephrol. 2010 Jun;5(6):1079-90. doi: 10.2215/CJN.06810909. Epub 2010 Apr 8. Clin J Am Soc Nephrol. 2010. PMID: 20378641 Free PMC article.
161 results