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Page 1
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
Korkmaz E, Lipska-Ziętkiewicz BS, Boyer O, Gribouval O, Fourrage C, Tabatabaei M, Schnaidt S, Gucer S, Kaymaz F, Arici M, Dinckan A, Mir S, Bayazit AK, Emre S, Balat A, Rees L, Shroff R, Bergmann C, Mourani C, Antignac C, Ozaltin F, Schaefer F; PodoNet Consortium. Korkmaz E, et al. Among authors: boyer o. J Am Soc Nephrol. 2016 Jan;27(1):63-8. doi: 10.1681/ASN.2014121240. Epub 2015 May 12. J Am Soc Nephrol. 2016. PMID: 25967120 Free PMC article.
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Lipska-Ziętkiewicz BS, Gellermann J, Boyer O, Gribouval O, Ziętkiewicz S, Kari JA, Shalaby MA, Ozaltin F, Dusek J, Melk A, Bayazit AK, Massella L, Hyla-Klekot L, Habbig S, Godron A, Szczepańska M, Bieniaś B, Drożdż D, Odeh R, Jarmużek W, Zachwieja K, Trautmann A, Antignac C, Schaefer F; PodoNet Consortium. Lipska-Ziętkiewicz BS, et al. Among authors: boyer o. PLoS One. 2017 Aug 10;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017. PLoS One. 2017. PMID: 28796785 Free PMC article.
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.
Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O. Dorval G, et al. Among authors: boyer o. Pediatr Nephrol. 2018 Mar;33(3):473-483. doi: 10.1007/s00467-017-3819-9. Epub 2017 Oct 23. Pediatr Nephrol. 2018. PMID: 29058154
Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults.
Gribouval O, Boyer O, Hummel A, Dantal J, Martinez F, Sberro-Soussan R, Etienne I, Chauveau D, Delahousse M, Lionet A, Allard J, Pouteil Noble C, Tête MJ, Heidet L, Antignac C, Servais A. Gribouval O, et al. Among authors: boyer o. Kidney Int. 2018 Nov;94(5):1013-1022. doi: 10.1016/j.kint.2018.07.024. Kidney Int. 2018. PMID: 30348286 Free article.
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group.
Lipska-Ziętkiewicz BS, Ozaltin F, Hölttä T, Bockenhauer D, Bérody S, Levtchenko E, Vivarelli M, Webb H, Haffner D, Schaefer F, Boyer O. Lipska-Ziętkiewicz BS, et al. Among authors: boyer o. Eur J Hum Genet. 2020 Oct;28(10):1368-1378. doi: 10.1038/s41431-020-0642-8. Epub 2020 May 28. Eur J Hum Genet. 2020. PMID: 32467597 Free PMC article.
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, Yadav P, Reynolds BC, Decramer S, Besouw M, Perelló Carrascosa M, La Scola C, Trepiccione F, Ariceta G, Hummel A, Dossier C, Sayer JA, Konrad M, Keijzer-Veen MG, Awan A, Basu B, Chauveau D, Madariaga L, Koster-Kamphuis L, Furlano M, Zacchia M, Marzuillo P, Tse Y, Dursun I, Pinarbasi AS, Tramma D, Hoorn EJ, Gokce I, Nicholls K, Eid LA, Sartz L, Riordan M, Hooman N, Printza N, Bonny O, Arango Sancho P, Schild R, Sinha R, Guarino S, Martinez Jimenez V, Rodríguez Peña L, Belge H, Devuyst O, Wlodkowski T, Emma F, Levtchenko E, Knoers NVAM, Bichet DG, Schaefer F, Kleta R; European NDI Consortium; Bockenhauer D. Lopez-Garcia SC, et al. Among authors: boyer o. Nephrol Dial Transplant. 2020 Dec 26:gfaa243. doi: 10.1093/ndt/gfaa243. Online ahead of print. Nephrol Dial Transplant. 2020. PMID: 33367818
388 results