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Page 1
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
de Haan A, van Eerde AM, Eijgelsheim M, Rump P, van der Zwaag B, Hennekam E, Živná M, Kmoch S, Bleyer AJ, Kidd K, Vogt L, Knoers NVAM, de Borst MH. de Haan A, et al. Among authors: knoers nvam. Kidney Int. 2023 May;103(5):986-989. doi: 10.1016/j.kint.2023.02.021. Epub 2023 Mar 22. Kidney Int. 2023. PMID: 37085259 Free article. No abstract available.
Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin.
de Haan A, Eijgelsheim M, Vogt L, Hoorn EJ, Rotmans JI, Fortrie G, Marsman RFJ, Rothuizen TC, Spijker HS, Claus LR, Konings CJAM, Waanders F, Doornebal J, Kramer AB, Adema AY, van der Zwaag B, van Eerde AM, Knoers NVAM, de Borst MH. de Haan A, et al. Among authors: knoers nvam. Nephrol Dial Transplant. 2024 Nov 19:gfae270. doi: 10.1093/ndt/gfae270. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 39562282
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.
Boulogne F, Claus LR, Wiersma H, Oelen R, Schukking F, de Klein N, Li S, Westra HJ, van der Zwaag B, van Reekum F; Genomics England Research Consortium; Sierks D, Schönauer R, Li Z, Bijlsma EK, Bos WJW, Halbritter J, Knoers NVAM, Besse W, Deelen P, Franke L, van Eerde AM. Boulogne F, et al. Among authors: knoers nvam. Eur J Hum Genet. 2023 Nov;31(11):1300-1308. doi: 10.1038/s41431-023-01296-x. Epub 2023 Feb 20. Eur J Hum Genet. 2023. PMID: 36807342 Free PMC article.
The Role of Genetic Testing in Adult CKD.
Knoers NVAM, van Eerde AM. Knoers NVAM, et al. J Am Soc Nephrol. 2024 Aug 1;35(8):1107-1118. doi: 10.1681/ASN.0000000000000401. Epub 2024 May 6. J Am Soc Nephrol. 2024. PMID: 39288914
What's in a name? That which we call diabetes does not taste sweet!
Bockenhauer D, Knoers NVAM, Bichet DG. Bockenhauer D, et al. Among authors: knoers nvam. Pediatr Nephrol. 2023 Apr;38(4):937-939. doi: 10.1007/s00467-022-05815-8. Epub 2022 Nov 11. Pediatr Nephrol. 2023. PMID: 36369299 No abstract available.
International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance).
Levtchenko E, Ariceta G, Arguedas Flores O, Bichet DG, Bockenhauer D, Emma F, Hoorn EJ, Koster-Kamphuis L, Nijenhuis T, Trepiccione F, Vargas-Poussou R, Walsh SB, Knoers NVAM. Levtchenko E, et al. Among authors: knoers nvam. Nat Rev Nephrol. 2024 Oct 22. doi: 10.1038/s41581-024-00897-z. Online ahead of print. Nat Rev Nephrol. 2024. PMID: 39438674 Review.
165 results