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Page 1
Nephronophthisis: a genetically diverse ciliopathy.
Simms RJ, Hynes AM, Eley L, Sayer JA. Simms RJ, et al. Among authors: sayer ja. Int J Nephrol. 2011;2011:527137. doi: 10.4061/2011/527137. Epub 2011 May 15. Int J Nephrol. 2011. PMID: 21660307 Free PMC article.
Clinical and functional characterization of URAT1 variants.
Tasic V, Hynes AM, Kitamura K, Cheong HI, Lozanovski VJ, Gucev Z, Jutabha P, Anzai N, Sayer JA. Tasic V, et al. Among authors: sayer ja. PLoS One. 2011;6(12):e28641. doi: 10.1371/journal.pone.0028641. Epub 2011 Dec 16. PLoS One. 2011. PMID: 22194875 Free PMC article.
Primary hyperparathyroidism: just how 'primary' is it really?
Quinton R, Ball SG, Sayer J, Pearce SH. Quinton R, et al. Ther Adv Endocrinol Metab. 2010 Oct;1(5):191-6. doi: 10.1177/2042018810389646. Ther Adv Endocrinol Metab. 2010. PMID: 23148163 Free PMC article. No abstract available.
Functional modelling of a novel mutation in BBS5.
Al-Hamed MH, van Lennep C, Hynes AM, Chrystal P, Eley L, Al-Fadhly F, El Sayed R, Simms RJ, Meyer B, Sayer JA. Al-Hamed MH, et al. Among authors: sayer ja. Cilia. 2014 Feb 21;3(1):3. doi: 10.1186/2046-2530-3-3. Cilia. 2014. PMID: 24559376 Free PMC article.
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.
Genetic testing can resolve diagnostic confusion in Alport syndrome.
Adam J, Connor TM, Wood K, Lewis D, Naik R, Gale DP, Sayer JA. Adam J, et al. Among authors: sayer ja. Clin Kidney J. 2014 Apr;7(2):197-200. doi: 10.1093/ckj/sft144. Epub 2013 Dec 18. Clin Kidney J. 2014. PMID: 24944784 Free PMC article.
245 results