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Items: 1 to 50 of 110

1.

ANNALS EXPRESS: Rapid LC-MS/MS screening method for urinary metabolites of Primary Hyperoxaluria.

Woodward G, Pryke R, Hoppe B, Rumsby G.

Ann Clin Biochem. 2018 Oct 29:4563218811365. doi: 10.1177/0004563218811365. [Epub ahead of print]

PMID:
30373392
2.

Using Machine Learning to Aid the Interpretation of Urine Steroid Profiles.

Wilkes EH, Rumsby G, Woodward GM.

Clin Chem. 2018 Nov;64(11):1586-1595. doi: 10.1373/clinchem.2018.292201. Epub 2018 Aug 10.

PMID:
30097499
3.

Primary Hyperoxaluria Type 2.

Rumsby G, Hulton SA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Dec 2 [updated 2017 Dec 21].

4.

Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria.

Clifford-Mobley O, Rumsby G, Kanodia S, Didi M, Holt R, Senniappan S.

Pediatr Nephrol. 2017 Nov;32(11):2159-2163. doi: 10.1007/s00467-017-3741-1. Epub 2017 Jul 27.

PMID:
28752386
5.

Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia.

Hawton K, Walton-Betancourth S, Rumsby G, Raine J, Dattani M.

Pediatrics. 2017 Feb;139(2). pii: e20160730. doi: 10.1542/peds.2016-0730.

6.

Genetic defects underlying renal stone disease.

Rumsby G.

Int J Surg. 2016 Dec;36(Pt D):590-595. doi: 10.1016/j.ijsu.2016.11.015. Epub 2016 Nov 10. Review.

PMID:
27838384
7.

Biochemical composition of urolithiasis from stone dust - a matched-pair analysis.

Ray ER, Rumsby G, Smith RD.

BJU Int. 2016 Oct;118(4):618-24. doi: 10.1111/bju.13448. Epub 2016 Mar 21.

8.

Urine oxalate biological variation in patients with primary hyperoxaluria.

Clifford-Mobley O, Sjögren A, Lindner E, Rumsby G.

Urolithiasis. 2016 Aug;44(4):333-7. doi: 10.1007/s00240-016-0860-2. Epub 2016 Feb 8.

PMID:
26857252
9.

Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.

Fargue S, Knight J, Holmes RP, Rumsby G, Danpure CJ.

Biochim Biophys Acta. 2016 Jun;1862(6):1055-62. doi: 10.1016/j.bbadis.2016.02.004. Epub 2016 Feb 6.

10.

Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria.

Clifford-Mobley O, Hewitt L, Rumsby G.

Ann Clin Biochem. 2016 Jul;53(Pt 4):485-94. doi: 10.1177/0004563215606158. Epub 2015 Sep 4.

PMID:
26342005
11.

Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.

Phelan N, Williams EL, Cardamone S, Lee M, Creighton SM, Rumsby G, Conway GS.

Eur J Endocrinol. 2015 Jun;172(6):745-51. doi: 10.1530/EJE-14-0994. Epub 2015 Mar 4.

PMID:
25740850
12.

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

Williams EL, Bagg EA, Mueller M, Vandrovcova J, Aitman TJ, Rumsby G.

Mol Genet Genomic Med. 2015 Jan;3(1):69-78. doi: 10.1002/mgg3.118.

13.

Adrenal cancer in neurofibromatosis type 1: case report and DNA analysis.

Menon RK, Ferrau F, Kurzawinski TR, Rumsby G, Freeman A, Amin Z, Korbonits M, Chung TT.

Endocrinol Diabetes Metab Case Rep. 2014;2014:140074. doi: 10.1530/EDM-14-0074. Epub 2014 Nov 1.

14.

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.

Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, Rumsby G; OxalEurope Consortium.

Kidney Int. 2014 Dec;86(6):1197-204. doi: 10.1038/ki.2014.222. Epub 2014 Jul 2.

15.

Case 205: renal stone ileus.

MacDonald LS, Rumsby G, Lapsia S.

Radiology. 2014 May;271(2):615-8. doi: 10.1148/radiol.14120636.

PMID:
24761958
16.

The comparability of oxalate excretion and oxalate:creatinine ratio in the investigation of primary hyperoxaluria: review of data from a referral centre.

Clifford-Mobley O, Tims C, Rumsby G.

Ann Clin Biochem. 2015 Jan;52(Pt 1):113-21. doi: 10.1177/0004563214529937. Epub 2014 Apr 9.

PMID:
24719216
17.

Primary hyperoxaluria.

Rumsby G, Cochat P.

N Engl J Med. 2013 Nov 28;369(22):2163. doi: 10.1056/NEJMc1311606. No abstract available.

18.

Primary hyperoxaluria.

Cochat P, Rumsby G.

N Engl J Med. 2013 Aug 15;369(7):649-58. doi: 10.1056/NEJMra1301564. Review. No abstract available. Erratum in: N Engl J Med. 2013 Nov 28;369(22):2168.

PMID:
23944302
19.

Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.

Fargue S, Rumsby G, Danpure CJ.

Biochim Biophys Acta. 2013 Oct;1832(10):1776-83. doi: 10.1016/j.bbadis.2013.04.010. Epub 2013 Apr 15.

20.
21.

The impact of receiving treatment for cancer at a large metropolitan teaching hospital as recorded by patients using unstructured journals.

Olver IN, Eliott JA, Long L, McKinnon M, Rumsby G.

J Cancer Educ. 2012 Dec;27(4):625-30. doi: 10.1007/s13187-012-0415-3.

PMID:
23007854
22.

Delayed puberty from partial 17-alpha hydroxylase enzyme deficiency.

Croxson M, Ogilvie CM, Milsom S, Lewis J, Davidson J, Rumsby G.

N Z Med J. 2012 May 25;125(1355):71-4.

PMID:
22722218
23.

The nature of cardiac calcification in aortic stenosis.

Holmgren A, Rumsby G, Gustafsson S, Näslund U, Henein MY.

Int J Cardiol. 2012 Jul 12;158(2):319-21. doi: 10.1016/j.ijcard.2012.04.142. Epub 2012 May 22. No abstract available.

PMID:
22626834
24.

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.

Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson NV, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS; OxalEurope.

Nephrol Dial Transplant. 2012 May;27(5):1729-36. doi: 10.1093/ndt/gfs078.

25.

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.

Williams EL, Bockenhauer D, van't Hoff WG, Johri N, Laing C, Sinha MD, Unwin R, Viljoen A, Rumsby G.

Nephrol Dial Transplant. 2012 Aug;27(8):3191-5. doi: 10.1093/ndt/gfs039. Epub 2012 Mar 5.

PMID:
22391140
26.

Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.

Berra M, Williams EL, Muroni B, Creighton SM, Honour JW, Rumsby G, Conway GS.

Eur J Endocrinol. 2011 Jun;164(6):1019-25. doi: 10.1530/EJE-10-0930. Epub 2011 Mar 14.

PMID:
21402750
27.

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N.

J Clin Endocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20.

28.

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.

Hum Mutat. 2009 Jun;30(6):910-7. doi: 10.1002/humu.21021. Review.

PMID:
19479957
29.

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.

Urol Res. 2009 Jun;37(3):127-32. doi: 10.1007/s00240-009-0185-5. Epub 2009 Mar 13.

PMID:
19283374
30.

Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate.

Casteràs A, De Silva P, Rumsby G, Conway GS.

Clin Endocrinol (Oxf). 2009 Jun;70(6):833-7. doi: 10.1111/j.1365-2265.2009.03563.x. Epub 2009 Feb 25.

PMID:
19250265
31.

Chronic kidney disease with three cases of oxalate-like nephrosis in Ragdoll cats.

Heiene R, Rumsby G, Ziener M, Dahl SA, Tims C, Teige J, Ottesen N.

J Feline Med Surg. 2009 Jun;11(6):474-80. doi: 10.1016/j.jfms.2008.11.003. Epub 2008 Dec 17.

PMID:
19095478
32.

Oxalate transport as contributor to primary hyperoxaluria: the jury is still out.

Rumsby G.

Am J Kidney Dis. 2008 Dec;52(6):1031-4. doi: 10.1053/j.ajkd.2008.10.004. No abstract available.

PMID:
19026355
33.

Purification and characterization of recombinant human liver glycolate oxidase.

Vignaud C, Pietrancosta N, Williams EL, Rumsby G, Lederer F.

Arch Biochem Biophys. 2007 Sep 15;465(2):410-6. Epub 2007 Jun 29.

PMID:
17669354
34.
35.

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

Williams EL, Kemper MJ, Rumsby G.

Am J Kidney Dis. 2006 Sep;48(3):481-3.

PMID:
16931222
36.

Is liver analysis still required for the diagnosis of primary hyperoxaluria type 2?

Rumsby G.

Nephrol Dial Transplant. 2006 Aug;21(8):2063-4. Epub 2006 Jul 4. No abstract available.

PMID:
16820377
37.

An introduction to PCR techniques.

Rumsby G.

Methods Mol Biol. 2006;324:75-89. Review.

PMID:
16761372
38.

Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase.

Booth MP, Conners R, Rumsby G, Brady RL.

J Mol Biol. 2006 Jun 30;360(1):178-89. Epub 2006 May 22.

PMID:
16756993
39.

A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.

Brooke AM, Taylor NF, Shepherd JH, Gore ME, Ahmad T, Lin L, Rumsby G, Papari-Zareei M, Auchus RJ, Achermann JC, Monson JP.

J Clin Endocrinol Metab. 2006 Jun;91(6):2428-31. Epub 2006 Mar 28.

PMID:
16569739
40.

Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience.

Ogilvie CM, Rumsby G, Kurzawinski T, Conway GS.

Eur J Endocrinol. 2006 Mar;154(3):405-8.

PMID:
16498053
41.

Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues.

Ogilvie CM, Crouch NS, Rumsby G, Creighton SM, Liao LM, Conway GS.

Clin Endocrinol (Oxf). 2006 Jan;64(1):2-11. Review.

PMID:
16402922
42.

Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells.

Behnam JT, Williams EL, Brink S, Rumsby G, Danpure CJ.

Biochem J. 2006 Mar 1;394(Pt 2):409-16.

43.
44.

An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.

Rumsby G.

Urol Res. 2005 Nov;33(5):318-20. Epub 2005 Oct 6. Review.

PMID:
16208537
45.
46.

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.

Am J Nephrol. 2005 May-Jun;25(3):269-75. Epub 2005 Jun 15.

PMID:
15961946
47.

Two brothers with non-classical 21-hydroxylase deficiency: to treat or not to treat?

Oberender F, Rumsby G, Perry LA, Savage MO.

Horm Res. 2004;62(5):241-4. Epub 2004 Oct 18.

PMID:
15492485
48.

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

Coulter-Mackie MB, Rumsby G.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):38-46. Review.

PMID:
15464418
49.

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

Rumsby G, Williams E, Coulter-Mackie M.

Kidney Int. 2004 Sep;66(3):959-63.

50.

Multiple tumors associated with late-onset congenital adrenal hyperplasia due to aberrant splicing of adrenal 21-hydroxylase gene.

Boos CJ, Rumsby G, Matfin G.

Endocr Pract. 2002 Nov-Dec;8(6):470-3. No abstract available.

PMID:
15251833

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