Rumsby G - Search Results

1

Primary hyperoxaluria type 2 in children.

Johnson SA, Rumsby G, Cregeen D, Hulton SA. Johnson SA, et al. Among authors: rumsby g. Pediatr Nephrol. 2002 Aug;17(8):597-601. doi: 10.1007/s00467-002-0858-6. Epub 2002 Jun 6. Pediatr Nephrol. 2002. PMID: 12185464

2

Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II.

Monico CG, Persson M, Ford GC, Rumsby G, Milliner DS. Monico CG, et al. Among authors: rumsby g. Kidney Int. 2002 Aug;62(2):392-400. doi: 10.1046/j.1523-1755.2002.00468.x. Kidney Int. 2002. PMID: 12110000 Free article.

3

Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1.

von Schnakenburg C, Rumsby G, Hoppe B, Latta K, Kemper M. von Schnakenburg C, et al. Among authors: rumsby g. Pediatr Nephrol. 2003 May;18(5):482-3; author reply 484. doi: 10.1007/s00467-003-1107-3. Epub 2003 Apr 5. Pediatr Nephrol. 2003. PMID: 12687460 No abstract available.

4

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.

Cregeen DP, Williams EL, Hulton S, Rumsby G. Cregeen DP, et al. Among authors: rumsby g. Hum Mutat. 2003 Dec;22(6):497. doi: 10.1002/humu.9200. Hum Mutat. 2003. PMID: 14635115

5

Molecular aetiology of primary hyperoxaluria and its implications for clinical management.

Danpure CJ, Rumsby G. Danpure CJ, et al. Among authors: rumsby g. Expert Rev Mol Med. 2004 Jan 9;6(1):1-16. doi: 10.1017/S1462399404007203. Expert Rev Mol Med. 2004. PMID: 14987413 Review.

6

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.

Coulter-Mackie MB, Rumsby G. Coulter-Mackie MB, et al. Among authors: rumsby g. Mol Genet Metab. 2004 Sep-Oct;83(1-2):38-46. doi: 10.1016/j.ymgme.2004.08.009. Mol Genet Metab. 2004. PMID: 15464418 Review.

7

Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.

Frishberg Y, Rinat C, Shalata A, Khatib I, Feinstein S, Becker-Cohen R, Weismann I, Wanders RJ, Rumsby G, Roels F, Mandel H. Frishberg Y, et al. Among authors: rumsby g. Am J Nephrol. 2005 May-Jun;25(3):269-75. doi: 10.1159/000086357. Epub 2005 Jun 15. Am J Nephrol. 2005. PMID: 15961946

8

A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.

Williams EL, Kemper MJ, Rumsby G. Williams EL, et al. Among authors: rumsby g. Am J Kidney Dis. 2006 Sep;48(3):481-3. doi: 10.1053/j.ajkd.2006.05.022. Am J Kidney Dis. 2006. PMID: 16931222

9

Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.

Price KL, Hulton SA, van't Hoff WG, Masters JR, Rumsby G. Price KL, et al. Among authors: rumsby g. Urol Res. 2009 Jun;37(3):127-32. doi: 10.1007/s00240-009-0185-5. Epub 2009 Mar 13. Urol Res. 2009. PMID: 19283374

10

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G. Williams EL, et al. Among authors: rumsby g. Hum Mutat. 2009 Jun;30(6):910-7. doi: 10.1002/humu.21021. Hum Mutat. 2009. PMID: 19479957 Review.

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