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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: knebelmann b. 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.
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: knebelmann b. Lancet. 2004 Oct 30-Nov 5;364(9445):1638. doi: 10.1016/S0140-6736(04)17321-2. Lancet. 2004. PMID: 15519638 No abstract available.
Cyst infections in patients with autosomal dominant polycystic kidney disease.
Sallée M, Rafat C, Zahar JR, Paulmier B, Grünfeld JP, Knebelmann B, Fakhouri F. Sallée M, et al. Among authors: knebelmann b. Clin J Am Soc Nephrol. 2009 Jul;4(7):1183-9. doi: 10.2215/CJN.01870309. Epub 2009 May 21. Clin J Am Soc Nephrol. 2009. PMID: 19470662 Free PMC article.
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Halbritter J, et al. Among authors: knebelmann b. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140113 Free PMC article.
Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.
Zaidan M, Palsson R, Merieau E, Cornec-Le Gall E, Garstka A, Maggiore U, Deteix P, Battista M, Gagné ER, Ceballos-Picot I, Duong Van Huyen JP, Legendre C, Daudon M, Edvardsson VO, Knebelmann B. Zaidan M, et al. Among authors: knebelmann b. Am J Transplant. 2014 Nov;14(11):2623-32. doi: 10.1111/ajt.12926. Epub 2014 Oct 10. Am J Transplant. 2014. PMID: 25307253 Free PMC article.
161 results