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LMX1B mutations cause hereditary FSGS without extrarenal involvement.
Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O, Tête MJ, Duca JS, Klickstein L, Damask AJ, Szustakowski JD, Heibel F, Matignon M, Baudouin V, Chantrel F, Champigneulle J, Martin L, Nitschké P, Gubler MC, Johnson KJ, Chibout SD, Antignac C. Boyer O, et al. Among authors: gribouval o. J Am Soc Nephrol. 2013 Jul;24(8):1216-22. doi: 10.1681/ASN.2013020171. Epub 2013 May 16. J Am Soc Nephrol. 2013. PMID: 23687361 Free PMC article.
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kachmar J, Boyer O, Lipska-Ziętkiewicz B, Morinière V, Gribouval O, Heidet L, Balasz-Chmielewska I, Benetti E, Cloarec S, Csaicsich D, Decramer S, Gellermann J, Guigonis V, Hogan J, Bayazit AK, Melk A, Nigmatullina N, Oh J, Ozaltin F, Ranchin B, Tsimaratos M, Trautmann A, Antignac C, Schaefer F, Dorval G; PodoNet Network. Kachmar J, et al. Among authors: gribouval o. Kidney Int Rep. 2024 Jan 10;9(4):973-981. doi: 10.1016/j.ekir.2024.01.005. eCollection 2024 Apr. Kidney Int Rep. 2024. PMID: 38765578 Free PMC article.
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
Philippe A, Nevo F, Esquivel EL, Reklaityte D, Gribouval O, Tête MJ, Loirat C, Dantal J, Fischbach M, Pouteil-Noble C, Decramer S, Hoehne M, Benzing T, Charbit M, Niaudet P, Antignac C. Philippe A, et al. Among authors: gribouval o. J Am Soc Nephrol. 2008 Oct;19(10):1871-8. doi: 10.1681/ASN.2008010059. Epub 2008 Jul 9. J Am Soc Nephrol. 2008. PMID: 18614772 Free PMC article.
69 results