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Page 1
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH. Bredrup C, et al. Among authors: matignon m. Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20. Am J Hum Genet. 2011. PMID: 22019273 Free PMC article.
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefèvre S, Knebelmann B, Harris PC, Trouvé P, Desprès A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R; Genomics England Research Consortium; Genkyst Study Group; Le Meur Y, Audrézet MP, Cornec-Le Gall E. Lemoine H, et al. Among authors: matignon m. Am J Hum Genet. 2022 Aug 4;109(8):1484-1499. doi: 10.1016/j.ajhg.2022.06.013. Epub 2022 Jul 26. Am J Hum Genet. 2022. PMID: 35896117 Free PMC article.
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
Zivná M, Hůlková H, Matignon M, Hodanová K, Vylet'al P, Kalbácová M, Baresová V, Sikora J, Blazková H, Zivný J, Ivánek R, Stránecký V, Sovová J, Claes K, Lerut E, Fryns JP, Hart PS, Hart TC, Adams JN, Pawtowski A, Clemessy M, Gasc JM, Gübler MC, Antignac C, Elleder M, Kapp K, Grimbert P, Bleyer AJ, Kmoch S. Zivná M, et al. Among authors: matignon m. Am J Hum Genet. 2009 Aug;85(2):204-13. doi: 10.1016/j.ajhg.2009.07.010. Epub 2009 Aug 6. Am J Hum Genet. 2009. PMID: 19664745 Free PMC article.
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: matignon m. 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.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Živná M, Kidd K, Zaidan M, Vyleťal P, Barešová V, Hodaňová K, Sovová J, Hartmannová H, Votruba M, Trešlová H, Jedličková I, Sikora J, Hůlková H, Robins V, Hnízda A, Živný J, Papagregoriou G, Mesnard L, Beck BB, Wenzel A, Tory K, Häeffner K, Wolf MTF, Bleyer ME, Sayer JA, Ong ACM, Balogh L, Jakubowska A, Łaszkiewicz A, Clissold R, Shaw-Smith C, Munshi R, Haws RM, Izzi C, Capelli I, Santostefano M, Graziano C, Scolari F, Sussman A, Trachtman H, Decramer S, Matignon M, Grimbert P, Shoemaker LR, Stavrou C, Abdelwahed M, Belghith N, Sinclair M, Claes K, Kopel T, Moe S, Deltas C, Knebelmann B, Rampoldi L, Kmoch S, Bleyer AJ. Živná M, et al. Among authors: matignon m. Kidney Int. 2020 Dec;98(6):1589-1604. doi: 10.1016/j.kint.2020.06.041. Epub 2020 Aug 1. Kidney Int. 2020. PMID: 32750457 Free PMC article.
The man with "milk-shake" urine.
Fakhouri F, Matignon M, Therby A, Méjean A, Correas JM, Challier S, Knebelmann B. Fakhouri F, et al. Among authors: matignon m. Lancet. 2004 Oct 30-Nov 5;364(9445):1638. doi: 10.1016/S0140-6736(04)17321-2. Lancet. 2004. PMID: 15519638 No abstract available.
Switch from calcineurin inhibitors to belatacept in kidney transplant patients with chronic-active antibody mediated rejection results in lower decline in kidney function at three years.
de Nattes T, François A, Candon S, Etienne I, Laurent C, Matignon M, Morel A, Noble J, Planchais M, Guerrot D, Bertrand D. de Nattes T, et al. Among authors: matignon m. J Nephrol. 2021 Dec;34(6):2159-2162. doi: 10.1007/s40620-021-01099-7. Epub 2021 Jun 28. J Nephrol. 2021. PMID: 34181198 No abstract available.
Prognostic Factors in Anti-glomerular Basement Membrane Disease: A Multicenter Study of 119 Patients.
Marques C, Carvelli J, Biard L, Faguer S, Provôt F, Matignon M, Boffa JJ, Plaisier E, Hertig A, Touzot M, Moranne O, Belenfant X, Annane D, Quéméneur T, Cadranel J, Izzedine H, Bréchot N, Cacoub P, Piedrafita A, Jourde-Chiche N, Saadoun D. Marques C, et al. Among authors: matignon m. Front Immunol. 2019 Jul 18;10:1665. doi: 10.3389/fimmu.2019.01665. eCollection 2019. Front Immunol. 2019. PMID: 31396214 Free PMC article.
Belatacept rescue conversion in kidney transplant recipients with vascular lesions (Banff cv score >2):  a retrospective cohort study.
Bertrand D, Matignon M, Morel A, Ludivine L, Lemoine M, Hanoy M, Roy FL, Nezam D, Hamzaoui M, de Nattes T, Moktefi A, François A, Laurent C, Etienne I, Guerrot D. Bertrand D, et al. Among authors: matignon m. Nephrol Dial Transplant. 2023 Feb 13;38(2):481-490. doi: 10.1093/ndt/gfac178. Nephrol Dial Transplant. 2023. PMID: 35544123
140 results