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SinglePage PageMode: UseOutlines Language: en Outlines: Item: Title: Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@4671e53b Children: Item: Title: Results Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@2db7a79b Children: Item: Title: Clinical and genetic characteristics of patients with ADTKD Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@6950e31 Item: Title: Spectrum of UMOD and MUC1 mutations Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@b7dd107 Item: Title: Clinical characteristics of ADTKD-UMOD and ADTKD-MUC1 Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@42eca56e Item: Title: UMOD biology in ADTKD-UMOD and ADTKD-MUC1 Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@52f759d7 Item: Title: Establishment of a clinical UMOD-score in the Belgo-Swiss ADTKD registry Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7cbd213e Item: Title: UMOD-score and urine UMOD levels to guide genetic testing in ADTKD Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@192d3247 Item: Title: Discussion Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@3ecd23d9 Item: Title: Methods Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@569cfc36 Children: Item: Title: International ADTKD Cohort Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@43bd930a Children: Item: Title: Belgo-Swiss ADTKD registry Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@33723e30 Item: Title: US ADTKD registry Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@64f6106c Item: Title: Genetic testing Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@553a3d88 Item: Title: Measurements of urinary levels of UMOD Destination: 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application/pdf doi:10.1016/j.kint.2020.04.038 Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 Eric Olinger Patrick Hofmann Kendrah Kidd Inès Dufour Hendrica Belge Céline Schaeffer Anne Kipp Olivier Bonny Constantinos Deltas Nathalie Demoulin Thomas Fehr Daniel G. Fuster Daniel P. Gale Eric Goffin Kateřina Hodaňová Uyen Huynh-Do Andreas Kistler Johann Morelle Gregory Papagregoriou Yves Pirson Richard Sandford John A. Sayer Roser Torra Christina Venzin Reto Venzin Bruno Vogt Martina Živná Anna Greka Karin Dahan Luca Rampoldi Stanislav Kmoch Anthony J. Bleyer Sr. Olivier Devuyst diagnostic score dominant kidney disease gout mucin-1 uromodulin Kidney International, 98 (2020) 717-731. doi:10.1016/j.kint.2020.04.038 Elsevier Inc journal Kidney International © 2020, International Society of Nephrology. Published by Elsevier Inc. 0085-2538 98 3 September 2020 717-731 717 731 10.1016/j.kint.2020.04.038 https://doi.org/10.1016/j.kint.2020.04.038 2010-04-23 true 10.1016/j.kint.2020.04.038 elsevier.com sciencedirect.com VoR 7.0 10.1016/j.kint.2020.04.038 noindex 2010-04-23 true 11th August 2020 sciencedirect.com elsevier.com Elsevier 2020-08-11T05:09:15+05:30 2020-08-11T05:09:15+05:30 True 11th August 2020 Acrobat Distiller 8.1.0 (Windows) uuid:c86be1dd-8b57-4ed7-bc64-61ed0910c8fc uuid:956eee10-882a-485a-946e-4ce941178c31 http://creativecommons.org/licenses/by-nc-nd/4.0/ Pages: Page: Label: 717 Sequence: 1 Annotations: Annotation: Subtype: Link Rect: 101, 651, 106, 663 Destination: 864 Annotation: Subtype: Link Rect: 107, 651, 112, 663 Destination: 864 Annotation: Subtype: Link Rect: 113, 651, 122, 663 Destination: null Annotation: Subtype: Link Rect: 124, 651, 133, 663 Destination: 864 Annotation: Subtype: Link Rect: 221, 651, 226, 663 Destination: 864 Annotation: Subtype: Link Rect: 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