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[Major advances in pediatric nephro-genetics].
Hureaux M, Heidet L, Vargas-Poussou R, Dorval G. Hureaux M, et al. Among authors: vargas poussou r. Med Sci (Paris). 2023 Mar;39(3):234-245. doi: 10.1051/medsci/2023028. Epub 2023 Mar 21. Med Sci (Paris). 2023. PMID: 36943120 Free article. Review. French.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
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. 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.
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. 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.
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P. Vargas-Poussou R, et al. J Clin Endocrinol Metab. 2016 May;101(5):2185-95. doi: 10.1210/jc.2015-3442. Epub 2016 Mar 10. J Clin Endocrinol Metab. 2016. PMID: 26963950
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. 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.
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