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Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L. Morinière V, et al. Among authors: plaisier e. J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22. J Am Soc Nephrol. 2014. PMID: 24854265 Free PMC article.
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.
Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, Marro B, Desmettre T, Cohen SY, Roullet E, Dracon M, Fardeau M, Van Agtmael T, Kerjaschki D, Antignac C, Ronco P. Plaisier E, et al. N Engl J Med. 2007 Dec 27;357(26):2687-95. doi: 10.1056/NEJMoa071906. N Engl J Med. 2007. PMID: 18160688 Free article.
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G. Boyer O, et al. Among authors: plaisier e. N Engl J Med. 2011 Dec 22;365(25):2377-88. doi: 10.1056/NEJMoa1109122. N Engl J Med. 2011. PMID: 22187985 Free article.
Spectrum and Prognosis of Noninfectious Renal Mixed Cryoglobulinemic GN.
Zaidan M, Terrier B, Pozdzik A, Frouget T, Rioux-Leclercq N, Combe C, Lepreux S, Hummel A, Noël LH, Marie I, Legallicier B, François A, Huart A, Launay D, Kaplanski G, Bridoux F, Vanhille P, Makdassi R, Augusto JF, Rouvier P, Karras A, Jouanneau C, Verpont MC, Callard P, Carrat F, Hermine O, Léger JM, Mariette X, Senet P, Saadoun D, Ronco P, Brochériou I, Cacoub P, Plaisier E; CryoVas study group. Zaidan M, et al. Among authors: plaisier e. J Am Soc Nephrol. 2016 Apr;27(4):1213-24. doi: 10.1681/ASN.2015020114. Epub 2015 Aug 10. J Am Soc Nephrol. 2016. PMID: 26260165 Free PMC article.
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.
85 results