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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: jeunemaitre x. 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.
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: jeunemaitre x. 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.
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. Among authors: jeunemaitre x. 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.
Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.
Riveira-Munoz E, Devuyst O, Belge H, Jeck N, Strompf L, Vargas-Poussou R, Jeunemaître X, Blanchard A, Knoers NV, Konrad M, Dahan K. Riveira-Munoz E, et al. Among authors: jeunemaitre x. Nephrol Dial Transplant. 2008 Oct;23(10):3120-5. doi: 10.1093/ndt/gfn229. Epub 2008 May 9. Nephrol Dial Transplant. 2008. PMID: 18469313
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: jeunemaitre x. 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.
CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.
Daniil G, Fernandes-Rosa FL, Chemin J, Blesneac I, Beltrand J, Polak M, Jeunemaitre X, Boulkroun S, Amar L, Strom TM, Lory P, Zennaro MC. Daniil G, et al. Among authors: jeunemaitre x. EBioMedicine. 2016 Nov;13:225-236. doi: 10.1016/j.ebiom.2016.10.002. Epub 2016 Oct 4. EBioMedicine. 2016. PMID: 27729216 Free PMC article.
372 results