Sayer JA - Search Results

1

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

Halbritter J, Baum M, Hynes AM, Rice SJ, Thwaites DT, Gucev ZS, Fisher B, Spaneas L, Porath JD, Braun DA, Wassner AJ, Nelson CP, Tasic V, Sayer JA, Hildebrandt F. Halbritter J, et al. Among authors: sayer ja. J Am Soc Nephrol. 2015 Mar;26(3):543-51. doi: 10.1681/ASN.2014040388. Epub 2014 Oct 8. J Am Soc Nephrol. 2015. PMID: 25296721 Free PMC article.

2

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F. Utsch B, et al. Among authors: sayer ja. Pediatr Nephrol. 2006 Jan;21(1):32-5. doi: 10.1007/s00467-005-2054-y. Epub 2005 Oct 21. Pediatr Nephrol. 2006. PMID: 16240161

3

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F. Helou J, et al. Among authors: sayer ja. J Med Genet. 2007 Oct;44(10):657-63. doi: 10.1136/jmg.2007.052027. Epub 2007 Jul 6. J Med Genet. 2007. PMID: 17617513 Free PMC article.

4

Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct.

Eley L, Moochhala SH, Simms R, Hildebrandt F, Sayer JA. Eley L, et al. Among authors: sayer ja. Biochem Biophys Res Commun. 2008 Jul 11;371(4):877-82. doi: 10.1016/j.bbrc.2008.05.016. Epub 2008 May 12. Biochem Biophys Res Commun. 2008. PMID: 18477472

5

Jouberin localizes to collecting ducts and interacts with nephrocystin-1.

Eley L, Gabrielides C, Adams M, Johnson CA, Hildebrandt F, Sayer JA. Eley L, et al. Among authors: sayer ja. Kidney Int. 2008 Nov;74(9):1139-49. doi: 10.1038/ki.2008.377. Epub 2008 Jul 16. Kidney Int. 2008. PMID: 18633336 Free article.

6

The genetics of nephrolithiasis.

Sayer JA. Sayer JA. Nephron Exp Nephrol. 2008;110(2):e37-43. doi: 10.1159/000151730. Epub 2008 Sep 1. Nephron Exp Nephrol. 2008. PMID: 18758188 Review.

7

Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly.

Tasic V, Lozanovski VJ, Gucev Z, Blau N, Cheong HI, Sayer JA. Tasic V, et al. Among authors: sayer ja. Pediatr Nephrol. 2011 Dec;26(12):2153-7. doi: 10.1007/s00467-011-1786-0. Epub 2011 Mar 1. Pediatr Nephrol. 2011. PMID: 21360111 Free article. No abstract available.

8

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.

9

Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development.

Simms RJ, Hynes AM, Eley L, Inglis D, Chaudhry B, Dawe HR, Sayer JA. Simms RJ, et al. Among authors: sayer ja. Cell Mol Life Sci. 2012 Mar;69(6):993-1009. doi: 10.1007/s00018-011-0826-z. Epub 2011 Sep 29. Cell Mol Life Sci. 2012. PMID: 21959375 Free PMC article.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

244 results

Search Page

Filters