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Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Hum Mutat. 2015 Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11.
Hum Mutat. 2015.
PMID: 25907713
Review.
Report of a family with two different hereditary diseases leading to early nephrocalcinosis.
Vargas-Poussou R, Cochat P, Le Pottier N, Roncelin I, Liutkus A, Blanchard A, Jeunemaître X.
Vargas-Poussou R, et al. Among authors: roncelin i.
Pediatr Nephrol. 2008 Jan;23(1):149-53. doi: 10.1007/s00467-007-0584-1. Epub 2007 Sep 26.
Pediatr Nephrol. 2008.
PMID: 17899212
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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D.
Ashton EJ, et al. Among authors: roncelin i.
Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15.
Kidney Int. 2018.
PMID: 29398133
Free article.
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Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.
Legrand A, Treard C, Roncelin I, Dreux S, Bertholet-Thomas A, Broux F, Bruno D, Decramer S, Deschenes G, Djeddi D, Guigonis V, Jay N, Khalifeh T, Llanas B, Morin D, Morin G, Nobili F, Pietrement C, Ryckewaert A, Salomon R, Vrillon I, Blanchard A, Vargas-Poussou R.
Legrand A, et al. Among authors: roncelin i.
Clin J Am Soc Nephrol. 2018 Feb 7;13(2):242-250. doi: 10.2215/CJN.05670517. Epub 2017 Nov 16.
Clin J Am Soc Nephrol. 2018.
PMID: 29146702
Free PMC article.
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Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.
Gaal J, Burnichon N, Korpershoek E, Roncelin I, Bertherat J, Plouin PF, de Krijger RR, Gimenez-Roqueplo AP, Dinjens WN.
Gaal J, et al. Among authors: roncelin i.
J Clin Endocrinol Metab. 2010 Mar;95(3):1274-8. doi: 10.1210/jc.2009-2170. Epub 2009 Nov 13.
J Clin Endocrinol Metab. 2010.
PMID: 19915015
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