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Page 1
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. 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
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Tran Mau-Them F, Nambot S, Faivre L, Ars E, Torra R, Ong ACM, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E; Genomics England Research Consortium, CYSTic Consortium, and Genkyst Study Group. Zagorec N, et al. Am J Kidney Dis. 2025 Apr;85(4):465-476.e1. doi: 10.1053/j.ajkd.2024.10.009. Epub 2024 Dec 26. Am J Kidney Dis. 2025. PMID: 39732359 Free article.
MYH9-related disorders display heterogeneous kidney involvement and outcome.
Tabibzadeh N, Fleury D, Labatut D, Bridoux F, Lionet A, Jourde-Chiche N, Vrtovsnik F, Schlegel N, Vanhille P. Tabibzadeh N, et al. Among authors: labatut d. Clin Kidney J. 2018 Dec 17;12(4):494-502. doi: 10.1093/ckj/sfy117. eCollection 2019 Aug. Clin Kidney J. 2018. PMID: 31384440 Free PMC article.
Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort.
Lefèvre S, Audrézet MP, Halimi JM, Longuet H, Bridoux F, Ecotière L, Augusto JF, Duveau A, Renaudineau E, Vigneau C, Frouget T, Charasse C, Gueguen L, Perrichot R, Couvrat G, Seret G, Le Meur Y, Cornec-Le Gall E; Genkyst Study Group. Lefèvre S, et al. Nephrol Dial Transplant. 2022 Oct 19;37(11):2223-2233. doi: 10.1093/ndt/gfac027. Nephrol Dial Transplant. 2022. PMID: 35108395 Free article.
Clinical features and viral diagnosis of two cases of infection with Middle East Respiratory Syndrome coronavirus: a report of nosocomial transmission.
Guery B, Poissy J, el Mansouf L, Séjourné C, Ettahar N, Lemaire X, Vuotto F, Goffard A, Behillil S, Enouf V, Caro V, Mailles A, Che D, Manuguerra JC, Mathieu D, Fontanet A, van der Werf S; MERS-CoV study group. Guery B, et al. Lancet. 2013 Jun 29;381(9885):2265-72. doi: 10.1016/S0140-6736(13)60982-4. Epub 2013 May 30. Lancet. 2013. PMID: 23727167 Free PMC article.