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1987 1
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78 results

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Page 1
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Among authors: lilien mr. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857 Free PMC article.
Nephronophthisis: should we target cysts or fibrosis?
Slaats GG, Lilien MR, Giles RH. Slaats GG, et al. Among authors: lilien mr. Pediatr Nephrol. 2016 Apr;31(4):545-54. doi: 10.1007/s00467-015-3162-y. Epub 2015 Jul 29. Pediatr Nephrol. 2016. PMID: 26219413 Review.
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Dollfus H, et al. Among authors: lilien mr. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085583 Free PMC article. Review.
Cellular senescence in kidney biopsies is associated with tubular dysfunction and predicts CKD progression in childhood cancer patients with karyomegalic interstitial nephropathy.
Knoppert SN, Keijzer-Veen MG, Valentijn FA, van den Heuvel-Eibrink MM, Lilien MR, van den Berg G, Haveman LM, Stokman MF, Janssens GO, van Kempen S, Broekhuizen R, Goldschmeding R, Nguyen TQ. Knoppert SN, et al. Among authors: lilien mr. J Pathol. 2023 Dec;261(4):455-464. doi: 10.1002/path.6202. Epub 2023 Oct 4. J Pathol. 2023. PMID: 37792603
Genetics-first approach improves diagnostics of ESKD patients <50 years old.
Snoek R, van Jaarsveld RH, Nguyen TQ, Peters EDJ, Elferink MG, Ernst RF, Rookmaaker MB, Lilien MR, Spierings E, Goldschmeding R, Knoers NVAM, van der Zwaag B, van Zuilen AD, van Eerde AM. Snoek R, et al. Among authors: lilien mr. Nephrol Dial Transplant. 2022 Jan 25;37(2):349-357. doi: 10.1093/ndt/gfaa363. Nephrol Dial Transplant. 2022. PMID: 33306124
Uncovering risk factors for kidney injury in children with a solitary functioning kidney.
Groen In 't Woud S, Roeleveld N, Westland R, Renkema KY, Steffens MG, Gracchi V, Lilien MR, van Wijk JAE, Feitz WFJ, Schreuder MF, van der Zanden LFM; Solitary Functioning Kidney: Aetiology and Prognosis (SOFIA) study group. Groen In 't Woud S, et al. Among authors: lilien mr. Kidney Int. 2023 Jan;103(1):156-165. doi: 10.1016/j.kint.2022.09.028. Epub 2022 Oct 28. Kidney Int. 2023. PMID: 36374825 Free article.
Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis.
Jamalpoor A, van Gelder CA, Yousef Yengej FA, Zaal EA, Berlingerio SP, Veys KR, Pou Casellas C, Voskuil K, Essa K, Ammerlaan CM, Rega LR, van der Welle RE, Lilien MR, Rookmaaker MB, Clevers H, Klumperman J, Levtchenko E, Berkers CR, Verhaar MC, Altelaar M, Masereeuw R, Janssen MJ. Jamalpoor A, et al. Among authors: lilien mr. EMBO Mol Med. 2021 Jul 7;13(7):e13067. doi: 10.15252/emmm.202013067. Epub 2021 Jun 24. EMBO Mol Med. 2021. PMID: 34165243 Free PMC article.
Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature.
van Peer SE, Pleijte CJH, de Krijger RR, Jongmans MCJ, Kuiper RP, Lilien MR, van Grotel M, Graf N, van den Heuvel-Eibrink MM, Hol JA. van Peer SE, et al. Among authors: lilien mr. Cancers (Basel). 2021 Feb 27;13(5):997. doi: 10.3390/cancers13050997. Cancers (Basel). 2021. PMID: 33673661 Free PMC article. Review.
78 results