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An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Olinger E, Schaeffer C, Kidd K, Elhassan EAE, Cheng Y, Dufour I, Schiano G, Mabillard H, Pasqualetto E, Hofmann P, Fuster DG, Kistler AD, Wilson IJ, Kmoch S, Raymond L, Robert T; Genomics England Research Consortium; Eckardt KU, Bleyer AJ Sr, Köttgen A, Conlon PJ, Wiesener M, Sayer JA, Rampoldi L, Devuyst O. Olinger E, et al. Among authors: fuster dg. Proc Natl Acad Sci U S A. 2022 Aug 16;119(33):e2114734119. doi: 10.1073/pnas.2114734119. Epub 2022 Aug 10. Proc Natl Acad Sci U S A. 2022. PMID: 35947615 Free PMC article.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, Kipp A, Bonny O, Deltas C, Demoulin N, Fehr T, Fuster DG, Gale DP, Goffin E, Hodaňová K, Huynh-Do U, Kistler A, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Živná M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ Sr, Devuyst O. Olinger E, et al. Among authors: fuster dg. Kidney Int. 2020 Sep;98(3):717-731. doi: 10.1016/j.kint.2020.04.038. Epub 2020 May 22. Kidney Int. 2020. PMID: 32450155 Free article.
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA, Olinger EG, Bargagli M, Geraghty R, Taylor L, Nater A, Bruggmann R, Sayer JA, Vogt B, Schaller A, Fuster DG. Anderegg MA, et al. Among authors: fuster dg. Nephrol Dial Transplant. 2024 Mar 27:gfae074. doi: 10.1093/ndt/gfae074. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 38544324 Free article.
Sodium/hydrogen exchanger NHA2 is critical for insulin secretion in β-cells.
Deisl C, Simonin A, Anderegg M, Albano G, Kovacs G, Ackermann D, Moch H, Dolci W, Thorens B, A Hediger M, Fuster DG. Deisl C, et al. Among authors: fuster dg. Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):10004-9. doi: 10.1073/pnas.1220009110. Epub 2013 May 29. Proc Natl Acad Sci U S A. 2013. PMID: 23720317 Free PMC article.
Fibroblast growth factor 23 and markers of mineral metabolism in individuals with preserved renal function.
Dhayat NA, Ackermann D, Pruijm M, Ponte B, Ehret G, Guessous I, Leichtle AB, Paccaud F, Mohaupt M, Fiedler GM, Devuyst O, Pechère-Bertschi A, Burnier M, Martin PY, Bochud M, Vogt B, Fuster DG. Dhayat NA, et al. Among authors: fuster dg. Kidney Int. 2016 Sep;90(3):648-57. doi: 10.1016/j.kint.2016.04.024. Epub 2016 Jun 28. Kidney Int. 2016. PMID: 27370409 Free article.
A preliminary survey of practice patterns across several European kidney stone centers and a call for action in developing shared practice.
Ferraro PM, Arrabal-Polo MÁ, Capasso G, Croppi E, Cupisti A, Ernandez T, Fuster DG, Galan JA, Grases F, Hoorn EJ, Knauf F, Letavernier E, Mohebbi N, Moochhala S, Petkova K, Pozdzik A, Sayer J, Seitz C, Strazzullo P, Trinchieri A, Vezzoli G, Vitale C, Vogt L, Unwin RJ, Bonny O, Gambaro G. Ferraro PM, et al. Among authors: fuster dg. Urolithiasis. 2019 Jun;47(3):219-224. doi: 10.1007/s00240-019-01119-z. Epub 2019 Mar 8. Urolithiasis. 2019. PMID: 30848320 Free article.
Parathyroid Hormone and Plasma Phosphate Are Predictors of Soluble α-Klotho Levels in Adults of European Descent.
Dhayat NA, Pruijm M, Ponte B, Ackermann D, Leichtle AB, Devuyst O, Ehret G, Guessous I, Pechère-Bertschi A, Pastor J, Martin PY, Burnier M, Fiedler GM, Vogt B, Moe OW, Bochud M, Fuster DG. Dhayat NA, et al. Among authors: fuster dg. J Clin Endocrinol Metab. 2020 Apr 1;105(4):e1135-43. doi: 10.1210/clinem/dgz232. J Clin Endocrinol Metab. 2020. PMID: 31774122 Free PMC article.
88 results