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145 results

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Page 1
Polycystic kidney disease.
Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Bergmann C, et al. Among authors: peters djm. Nat Rev Dis Primers. 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. Nat Rev Dis Primers. 2018. PMID: 30523303 Free PMC article. Review.
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Among authors: peters djm. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.
Jawaid T, Elbarougy DE, Lavu S, Buia G, Senum SR, Olinger E, Yang H, McDonnell SK, Bublitz JT, Ma J, Audrézet MP, Madsen CD, Schauer RS, Baker TA, Gregory AV, Orr SE, Barroso-Gil M, Neatu R, Joli G, Dahl NK, Kline TL, Gillion V, Dahan K, Jouret F, Perrone RD, Steinman TI, Peters DJM, Gitomer BY, Watnick TJ, Coto E, Chebib FT, Hogan MC, Olson JE, Larson NB, Ars E, Halbritter J, Demoulin N, Torres VE, Sayer JA, Cornec-Le Gall E, Harris PC; Genomics England Research Consortium, UK Biobank, HALT PKD, DIPAK, TAME PKD, Genkyst studies, Mayo Clinic Biobank, and Regeneron Genetics Center. Jawaid T, et al. Among authors: peters djm. J Am Soc Nephrol. 2025 Jun 1;36(6):1056-1071. doi: 10.1681/ASN.0000000613. Epub 2025 Feb 3. J Am Soc Nephrol. 2025. PMID: 39899384
Sensing of tubular flow and renal electrolyte transport.
Verschuren EHJ, Castenmiller C, Peters DJM, Arjona FJ, Bindels RJM, Hoenderop JGJ. Verschuren EHJ, et al. Among authors: peters djm. Nat Rev Nephrol. 2020 Jun;16(6):337-351. doi: 10.1038/s41581-020-0259-8. Epub 2020 Mar 3. Nat Rev Nephrol. 2020. PMID: 32127698 Review.
145 results