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Page 1
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: sayer ja. Nephrol Dial Transplant. 2020 Dec 26:gfaa243. doi: 10.1093/ndt/gfaa243. Online ahead of print. Nephrol Dial Transplant. 2020. PMID: 33367818
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
Enerbäck S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van't Hoff W, Walsh SB, D'Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA. Enerbäck S, et al. Among authors: sayer ja. J Am Soc Nephrol. 2018 Mar;29(3):1041-1048. doi: 10.1681/ASN.2017080840. Epub 2017 Dec 14. J Am Soc Nephrol. 2018. PMID: 29242249 Free PMC 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: sayer j. Urolithiasis. 2019 Jun;47(3):219-224. doi: 10.1007/s00240-019-01119-z. Epub 2019 Mar 8. Urolithiasis. 2019. PMID: 30848320 Free 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: sayer ja. 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.
Cystinuria: clinical practice recommendation.
Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E; Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN. Servais A, et al. Among authors: sayer ja. Kidney Int. 2021 Jan;99(1):48-58. doi: 10.1016/j.kint.2020.06.035. Epub 2020 Sep 9. Kidney Int. 2021. PMID: 32918941
Clinical versus research genomics in kidney disease.
Mallett AJ, Knoers N, Sayer J, Stark Z. Mallett AJ, et al. Nat Rev Nephrol. 2021 Sep;17(9):570-571. doi: 10.1038/s41581-021-00436-0. Nat Rev Nephrol. 2021. PMID: 33958773 No abstract available.
Kidney traits on repeat-the role of MUC1 VNTR.
Olinger E, Wilson I, Devuyst O, Sayer JA. Olinger E, et al. Among authors: sayer ja. Kidney Int. 2022 May;101(5):863-866. doi: 10.1016/j.kint.2021.12.026. Epub 2022 Jan 11. Kidney Int. 2022. PMID: 35031326 Free article. No abstract available.
An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International.
Müller RU, Messchendorp AL, Birn H, Capasso G, Cornec-Le Gall E, Devuyst O, van Eerde A, Guirchoun P, Harris T, Hoorn EJ, Knoers NVAM, Korst U, Mekahli D, Le Meur Y, Nijenhuis T, Ong ACM, Sayer JA, Schaefer F, Servais A, Tesar V, Torra R, Walsh SB, Gansevoort RT. Müller RU, et al. Among authors: sayer ja. Nephrol Dial Transplant. 2022 Apr 25;37(5):825-839. doi: 10.1093/ndt/gfab312. Nephrol Dial Transplant. 2022. PMID: 35134221 Free PMC article. Clinical Trial.
233 results