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Page 1
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Harkness JR, Beaman GM, Teik KW, Sidhu S, Sayer JA, Cordell HJ, Thomas HB, Wood K, Stuart HM, Woolf AS, Newman WG. Harkness JR, et al. Among authors: sayer ja. Kidney Int Rep. 2020 Jul 14;5(10):1823-1827. doi: 10.1016/j.ekir.2020.07.001. eCollection 2020 Oct. Kidney Int Rep. 2020. PMID: 33102976 Free PMC article. No abstract available.
CYP24A1 mutation leading to nephrocalcinosis.
Dowen FE, Sayers JA, Hynes AM, Sayer JA. Dowen FE, et al. Among authors: sayer ja. Kidney Int. 2014 Jun;85(6):1475. doi: 10.1038/ki.2013.416. Kidney Int. 2014. PMID: 24875559 Free article. No abstract available.
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.
Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ. Darlow JM, et al. Among authors: sayer ja. Sci Rep. 2017 Nov 6;7(1):14595. doi: 10.1038/s41598-017-15062-9. Sci Rep. 2017. PMID: 29097723 Free PMC article.
Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.
Darlow JM, Darlay R, Dobson MG, Stewart A, Charoen P, Southgate J, Baker SC, Xu Y, Hunziker M, Lambert HJ, Green AJ, Santibanez-Koref M, Sayer JA, Goodship THJ, Puri P, Woolf AS, Kenda RB, Barton DE, Cordell HJ. Darlow JM, et al. Among authors: sayer ja. Sci Rep. 2018 Jan 8;8(1):459. doi: 10.1038/s41598-017-17992-w. Sci Rep. 2018. PMID: 29311702 Free PMC article.
Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease.
Al Alawi I, Al Salmi I, Al Rahbi F, Al Riyami M, Al Kalbani N, Al Ghaithi B, Al Mawali A, Sayer JA. Al Alawi I, et al. Among authors: sayer ja. Kidney Int Rep. 2019 Aug 30;4(12):1751-1759. doi: 10.1016/j.ekir.2019.08.012. eCollection 2019 Dec. Kidney Int Rep. 2019. PMID: 31844813 Free PMC article. No abstract available.
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Ramsbottom SA, Thelwall PE, Wood KM, Clowry GJ, Devlin LA, Silbermann F, Spiewak HL, Shril S, Molinari E, Hildebrandt F, Gunay-Aygun M, Saunier S, Cordell HJ, Sayer JA, Miles CG. Ramsbottom SA, et al. Among authors: sayer ja. Proc Natl Acad Sci U S A. 2020 Jan 14;117(2):1113-1118. doi: 10.1073/pnas.1912602117. Epub 2019 Dec 26. Proc Natl Acad Sci U S A. 2020. PMID: 31879347 Free PMC article.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, Kipp A, Bonny O, Deltas C, Demoulin N, Fehr T, Fuster DG, Gale DP, Goffin E, Hodaňová K, Huynh-Do U, Kistler A, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Živná M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ Sr, Devuyst O. Olinger E, et al. Among authors: sayer ja. Kidney Int. 2020 Sep;98(3):717-731. doi: 10.1016/j.kint.2020.04.038. Epub 2020 May 22. Kidney Int. 2020. PMID: 32450155 Free article.
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.
Huynh VT, Audrézet MP, Sayer JA, Ong AC, Lefevre S, Le Brun V, Després A, Senum SR, Chebib FT, Barroso-Gil M, Patel C, Mallett AJ, Goel H, Mallawaarachchi AC, Van Eerde AM, Ponlot E, Kribs M; Genkyst Study Group, Genomics England Research Consortium; Le Meur Y, Harris PC, Cornec-Le Gall E. Huynh VT, et al. Among authors: sayer ja. Kidney Int. 2020 Aug;98(2):476-487. doi: 10.1016/j.kint.2020.02.022. Epub 2020 Mar 23. Kidney Int. 2020. PMID: 32631624 Free PMC article.
246 results