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Page 1
Dent disease: Clinical Practice Recommendations.
Bökenkamp A, Ariceta G, Böckenhauer D, Devuyst O, Emma F, van Bennekom D, Levtchenko E, Sayer J, Servais A, Vargas R, Zaniew M, Prikhodina L. Bökenkamp A, et al. Among authors: sayer j. Nephrol Dial Transplant. 2025 Jan 10:gfaf003. doi: 10.1093/ndt/gfaf003. Online ahead of print. Nephrol Dial Transplant. 2025. PMID: 39794284
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, Mau-Them FT, Nambot S, Faivre L, Ars E, Torra R, Ong AC, 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. Among authors: sayer ja. Am J Kidney Dis. 2024 Dec 26:S0272-6386(24)01126-0. doi: 10.1053/j.ajkd.2024.10.009. Online ahead of print. Am J Kidney Dis. 2024. PMID: 39732359
UMOD Genotype and Determinants of Urinary Uromodulin in African Populations.
Strauss-Kruger M, Olinger E, Hofmann P, Wilson IJ, Mels C, Kruger R, Gafane-Matemane LF, Sayer JA, Ricci C, Schutte AE, Devuyst O. Strauss-Kruger M, et al. Among authors: sayer ja. Kidney Int Rep. 2024 Sep 21;9(12):3477-3489. doi: 10.1016/j.ekir.2024.09.015. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698369 Free PMC article.
SGLT2-Inhibition in Patients With Alport Syndrome.
Boeckhaus J, Gale DP, Simon J, Ding J, Zhang Y, Bergmann C, Turner AN, Hall M, Sayer JA, Srivastava S, Kang HG, Cerkauskaite-Kerpauskiene A, Gillion V, Claes KJ, Krueger B, de Fallois J, Walden U, Choi M, Schueler M, Mueller RU, Todorova P, Hohenstein B, Zeisberg M, Friede T, Knebelmann B, Halbritter J, Gross O. Boeckhaus J, et al. Among authors: sayer ja. Kidney Int Rep. 2024 Sep 24;9(12):3490-3500. doi: 10.1016/j.ekir.2024.09.014. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698346 Free PMC article.
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ Sr. Kidd KO, et al. Among authors: sayer ja. BMC Nephrol. 2024 Dec 18;25(1):449. doi: 10.1186/s12882-024-03896-1. BMC Nephrol. 2024. PMID: 39696072 Free PMC article.
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.
Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R; Genomics England Research Consortium; Atan D, Sayer JA. Olinger E, et al. Among authors: sayer ja. Genet Med Open. 2024 Feb 29;2:101834. doi: 10.1016/j.gimo.2024.101834. eCollection 2024. Genet Med Open. 2024. PMID: 39669628 Free PMC article.
ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.
Almohlesy LS, Imtiaz F, Tulbah M, Alhashem A, Alhajooj M, Alhashem A, Mabillard H, Sayer JA, Alharbi KK, Al-Hamed MH. Almohlesy LS, et al. Among authors: sayer ja. Genes (Basel). 2024 Oct 25;15(11):1374. doi: 10.3390/genes15111374. Genes (Basel). 2024. PMID: 39596574 Free PMC article.
Role of Genetic Testing in Kidney Stone Disease: A Narrative Review.
Geraghty R, Lovegrove C, Howles S, Sayer JA. Geraghty R, et al. Among authors: sayer ja. Curr Urol Rep. 2024 Dec;25(12):311-323. doi: 10.1007/s11934-024-01225-5. Epub 2024 Aug 3. Curr Urol Rep. 2024. PMID: 39096463 Free PMC article. Review.
Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort.
Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Masoud S, Annear N, Barratt J, Bingham C, Coward RJ, Chrysochou T, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Thomas K, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Sy KTL, Huang K, Ye J, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP; RaDaR consortium. Wong K, et al. Among authors: sayer ja. Kidney Int Rep. 2024 May 9;9(7):2067-2083. doi: 10.1016/j.ekir.2024.04.062. eCollection 2024 Jul. Kidney Int Rep. 2024. PMID: 39081723 Free PMC article.
511 results