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Items: 1 to 50 of 378

1.

Cost-effectiveness of panel tests for multiple pharmacogenes associated with adverse drug reactions: An evaluation framework.

Plumpton CO, Pirmohamed M, Hughes DA.

Clin Pharmacol Ther. 2018 Nov 22. doi: 10.1002/cpt.1312. [Epub ahead of print]

PMID:
30466189
2.

Mapping ALSFRS-R and ALSUI to EQ-5D in Patients with Motor Neuron Disease.

Moore A, Young CA, Hughes DA.

Value Health. 2018 Nov;21(11):1322-1329. doi: 10.1016/j.jval.2018.05.005. Epub 2018 Jul 26.

PMID:
30442280
3.

Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Early Diagnosis Consensus (GED-C) Delphi initiative.

Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato F, Di Rocco M, Goker-Alpan O, Hughes DA, Lukina EA, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Pérez-López J, Ramaswami U, Schwartz IV, Szer J, Weinreb NJ, Zimran A.

Intern Med J. 2018 Nov 10. doi: 10.1111/imj.14156. [Epub ahead of print]

PMID:
30414226
4.

The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts.

Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, Hilz MJ, Hughes DA, Ortiz A, Wanner C, Weidemann F, Spada M.

Mol Genet Metab. 2018 Sep 27. pii: S1096-7192(18)30192-6. doi: 10.1016/j.ymgme.2018.09.007. [Epub ahead of print] Review.

PMID:
30413388
5.

Cost-Effectiveness Analysis of Adalimumab for the Treatment of Uveitis Associated with Juvenile Idiopathic Arthritis.

Hughes DA, Culeddu G, Plumpton CO, Wood E, Dick AD, Jones AP, McKay A, Williamson PR, Compeyrot Lacassagne S, Hardwick B, Hickey H, Woo P, Beresford MW, Ramanan AV.

Ophthalmology. 2018 Oct 16. pii: S0161-6420(18)31146-1. doi: 10.1016/j.ophtha.2018.09.043. [Epub ahead of print]

PMID:
30336181
6.

Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease.

Vijapurapu R, Nordin S, Baig S, Liu B, Rosmini S, Augusto J, Tchan M, Hughes DA, Geberhiwot T, Moon JC, Steeds RP, Kozor R.

Heart. 2018 Oct 3. pii: heartjnl-2018-313699. doi: 10.1136/heartjnl-2018-313699. [Epub ahead of print]

PMID:
30282640
7.

Patient-Focused Drug Development Methods for Benefit-Risk Assessments: A Case Study Using a Discrete Choice Experiment for Antiepileptic Drugs.

Holmes EAF, Plumpton C, Baker GA, Jacoby A, Ring A, Williamson P, Marson A, Hughes DA.

Clin Pharmacol Ther. 2018 Sep 11. doi: 10.1002/cpt.1231. [Epub ahead of print]

PMID:
30204252
8.

Nerve root block versus surgery (NERVES) for the treatment of radicular pain secondary to a prolapsed intervertebral disc herniation: study protocol for a multi-centre randomised controlled trial.

Wilby MJ, Hopkins C, Bedson E, Howlin S, Burnside G, Conroy EJ, Hughes DA, Sharma M, Marson A, Clark SR, Williamson P.

Trials. 2018 Sep 5;19(1):475. doi: 10.1186/s13063-018-2677-5.

9.

Letter to the Editor. Phase III randomized controlled trials are essential to properly evaluate the role of radiotherapy in WHO grade II meningioma.

Jenkinson MD, Weber DC, Haylock BJ, Sherratt FC, Young B, Weller M, Bulbeck H, Culeddu G, Hughes DA, Brain A, Das K, Preusser M, Francis P, Gamble C.

J Neurosurg. 2018 Oct;129(4):1104-1105. doi: 10.3171/2018.6.JNS181418. Epub 2018 Aug 17. No abstract available.

10.

Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease.

Reed MC, Bauernfreund Y, Cunningham N, Beaton B, Mehta AB, Hughes DA.

Gene. 2018 Dec 15;678:196-206. doi: 10.1016/j.gene.2018.08.045. Epub 2018 Aug 9.

PMID:
30099023
11.

Lessons learnt from a discontinued randomised controlled trial: adalimumab injection compared with placebo for patients receiving physiotherapy treatment for sciatica (Subcutaneous Injection of Adalimumab Trial compared with Control: SCIATiC).

Williams NH, Jenkins A, Goulden N, Hoare Z, Hughes DA, Wood E, Foster NE, Walsh D, Carnes D, Sparkes V, Hay EM, Isaacs J, Konstantinou K, Morrissey D, Karppinen J, Genevay S, Wilkinson C.

Trials. 2018 Jul 31;19(1):408. doi: 10.1186/s13063-018-2801-6.

12.

European expert consensus statement on therapeutic goals in Fabry disease.

Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ.

Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Review.

PMID:
30017653
13.

ESPACOMP Medication Adherence Reporting Guideline (EMERGE).

De Geest S, Zullig LL, Dunbar-Jacob J, Helmy R, Hughes DA, Wilson IB, Vrijens B.

Ann Intern Med. 2018 Jul 3;169(1):30-35. doi: 10.7326/M18-0543. Epub 2018 Jun 26.

PMID:
29946690
14.

Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease.

Reed MC, Schiffer C, Heales S, Mehta AB, Hughes DA.

Mol Genet Metab. 2018 Aug;124(4):278-286. doi: 10.1016/j.ymgme.2018.06.007. Epub 2018 Jun 14.

PMID:
29934064
15.

Gaucher Disease.

Pastores GM, Hughes DA.

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.
2000 Jul 27 [updated 2018 Jun 21].

16.

Core Items for a Standardized Resource Use Measure: Expert Delphi Consensus Survey.

Thorn JC, Brookes ST, Ridyard C, Riley R, Hughes DA, Wordsworth S, Noble SM, Thornton G, Hollingworth W.

Value Health. 2018 Jun;21(6):640-649. doi: 10.1016/j.jval.2017.06.011. Epub 2017 Sep 1.

17.

Biological Processes Modulating Longevity across Primates: A Phylogenetic Genome-Phenome Analysis.

Muntané G, Farré X, Rodríguez JA, Pegueroles C, Hughes DA, de Magalhães JP, Gabaldón T, Navarro A.

Mol Biol Evol. 2018 Aug 1;35(8):1990-2004. doi: 10.1093/molbev/msy105.

18.

Innovation at the Intersection of Clinical Trials and Real-World Data Science to Advance Patient Care.

Swift B, Jain L, White C, Chandrasekaran V, Bhandari A, Hughes DA, Jadhav PR.

Clin Transl Sci. 2018 Sep;11(5):450-460. doi: 10.1111/cts.12559. Epub 2018 May 16. Review.

19.

Societal Preferences for Funding Orphan Drugs in the United Kingdom: An Application of Person Trade-Off and Discrete Choice Experiment Methods.

Bourke SM, Plumpton CO, Hughes DA.

Value Health. 2018 May;21(5):538-546. doi: 10.1016/j.jval.2017.12.026.

PMID:
29753350
20.

Abundant pseudo-Gaucher cells result in delay in diagnosis of plasma cell myeloma.

Beaton B, Ramaswami U, Hughes DA, Proctor I, Mehta A.

Br J Haematol. 2018 Aug;182(4):465. doi: 10.1111/bjh.15257. Epub 2018 May 9. No abstract available.

PMID:
29741764
21.

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.

Schiffmann R, Bichet DG, Jovanovic A, Hughes DA, Giugliani R, Feldt-Rasmussen U, Shankar SP, Barisoni L, Colvin RB, Jennette JC, Holdbrook F, Mulberg A, Castelli JP, Skuban N, Barth JA, Nicholls K.

Orphanet J Rare Dis. 2018 Apr 27;13(1):68. doi: 10.1186/s13023-018-0813-7.

22.

Professor Gavin C. Arneil (1923-2018).

Maxwell H, Hughes DA, Beattie TJ.

Pediatr Nephrol. 2018 Jul;33(7):1273-1274. doi: 10.1007/s00467-018-3956-9. Epub 2018 Apr 23. No abstract available.

PMID:
29687195
23.

Community views on factors affecting medicines resource allocation: cross-sectional survey of 3080 adults in Australia.

Chim L, Salkeld G, Kelly PJ, Lipworth W, Hughes DA, Stockler MR.

Aust Health Rev. 2018 Apr 19. doi: 10.1071/AH16209. [Epub ahead of print]

PMID:
29669674
24.

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.

Lavalle L, Thomas AS, Beaton B, Ebrahim H, Reed M, Ramaswami U, Elliott P, Mehta AB, Hughes DA.

PLoS One. 2018 Apr 5;13(4):e0193550. doi: 10.1371/journal.pone.0193550. eCollection 2018.

25.

New Medicines in Wales: The All Wales Medicines Strategy Group (AWMSG) Appraisal Process and Outcomes.

Varnava A, Bracchi R, Samuels K, Hughes DA, Routledge PA.

Pharmacoeconomics. 2018 May;36(5):613-624. doi: 10.1007/s40273-018-0632-7.

26.

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

Corbin LJ, Tan VY, Hughes DA, Wade KH, Paul DS, Tansey KE, Butcher F, Dudbridge F, Howson JM, Jallow MW, John C, Kingston N, Lindgren CM, O'Donavan M, O'Rahilly S, Owen MJ, Palmer CNA, Pearson ER, Scott RA, van Heel DA, Whittaker J, Frayling T, Tobin MD, Wain LV, Smith GD, Evans DM, Karpe F, McCarthy MI, Danesh J, Franks PW, Timpson NJ.

Nat Commun. 2018 Feb 19;9(1):711. doi: 10.1038/s41467-018-03109-y. Review.

27.

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.

Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A, Iwanochko M, Vaz FM, van Kuilenburg ABP, West ML, Hughes DA, Hollak CEM.

J Med Genet. 2018 May;55(5):351-358. doi: 10.1136/jmedgenet-2017-104863. Epub 2018 Feb 7.

28.

Economics of Pharmacogenetic-Guided Treatments: Underwhelming or Overstated?

Hughes DA.

Clin Pharmacol Ther. 2018 May;103(5):749-751. doi: 10.1002/cpt.1030. Epub 2018 Feb 13.

PMID:
29435984
29.

The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.

Ivleva A, Weith E, Mehta A, Hughes DA.

JIMD Rep. 2018;41:37-45. doi: 10.1007/8904_2017_84. Epub 2018 Jan 30.

30.

Fludrocortisone-a treatment for tubulopathy post-paediatric renal transplantation: A national paediatric nephrology unit experience.

Ali SR, Shaheen I, Young D, Ramage I, Maxwell H, Hughes DA, Athavale D, Shaikh MG.

Pediatr Transplant. 2018 Mar;22(2). doi: 10.1111/petr.13134. Epub 2018 Jan 18.

PMID:
29345400
31.

Rare disease prevention and treatment: the need for a level playing field.

Hughes DA, Plumpton CO.

Pharmacogenomics. 2018 Feb;19(3):243-247. doi: 10.2217/pgs-2017-0300. Epub 2018 Jan 12.

PMID:
29327657
32.

Economic Impact of Emergency Visits due to Drug-Related Morbidity on a Brazilian Hospital.

Freitas GRM, Tramontina MY, Balbinotto G, Hughes DA, Heineck I.

Value Health Reg Issues. 2017 Dec;14:1-8. doi: 10.1016/j.vhri.2017.03.003. Epub 2017 Apr 25.

PMID:
29254532
33.

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Guelbert N, Stewart FJ, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR.

Mol Genet Metab. 2018 Feb;123(2):127-134. doi: 10.1016/j.ymgme.2017.11.015. Epub 2017 Dec 5.

34.

Subcutaneous Injection of Adalimumab Trial compared with Control (SCIATiC): a randomised controlled trial of adalimumab injection compared with placebo for patients receiving physiotherapy treatment for sciatica.

Williams NH, Jenkins A, Goulden N, Hoare Z, Hughes DA, Wood E, Foster NE, Walsh DA, Carnes D, Sparkes V, Hay EM, Isaacs J, Konstantinou K, Morrissey D, Karppinen J, Genevay S, Wilkinson C.

Health Technol Assess. 2017 Oct;21(60):1-180. doi: 10.3310/hta21600.

35.

The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.

Mac Lochlainn DJ, McKechnie DGJ, Mehta AB, Hughes DA.

Mol Genet Metab. 2018 Feb;123(2):154-158. doi: 10.1016/j.ymgme.2017.10.001. Epub 2017 Oct 5.

PMID:
29055531
36.

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.

Arends M, Körver S, Hughes DA, Mehta A, Hollak CEM, Biegstraaten M.

J Inherit Metab Dis. 2018 Jan;41(1):141-149. doi: 10.1007/s10545-017-0095-6. Epub 2017 Oct 16.

37.

DNA methylation of methylation complex genes in relation to stress and genome-wide methylation in mother-newborn dyads.

Clukay CJ, Hughes DA, Rodney NC, Kertes DA, Mulligan CJ.

Am J Phys Anthropol. 2018 Jan;165(1):173-182. doi: 10.1002/ajpa.23341. Epub 2017 Oct 13.

PMID:
29028111
38.

Cost-Effectiveness of Pediatric Central Venous Catheters in the UK: A Secondary Publication from the CATCH Clinical Trial.

Ridyard CH, Plumpton CO, Gilbert RE, Hughes DA.

Front Pharmacol. 2017 Sep 19;8:644. doi: 10.3389/fphar.2017.00644. eCollection 2017.

39.

Renal transplant patients' preference for the supply and delivery of immunosuppressants in Wales: a discrete choice experiment.

Hagemi A, Plumpton C, Hughes DA.

BMC Nephrol. 2017 Oct 2;18(1):305. doi: 10.1186/s12882-017-0720-5.

40.

Cost effectiveness analysis of HLA-B*58:01 genotyping prior to initiation of allopurinol for gout.

Plumpton CO, Alfirevic A, Pirmohamed M, Hughes DA.

Rheumatology (Oxford). 2017 Oct 1;56(10):1729-1739. doi: 10.1093/rheumatology/kex253. Review.

PMID:
28957559
41.

Lysosomal Storage Disorders and Malignancy.

Pastores GM, Hughes DA.

Diseases. 2017 Feb 27;5(1). pii: E8. doi: 10.3390/diseases5010008. Review.

42.

Using routinely recorded data in the UK to assess outcomes in a randomised controlled trial: The Trials of Access.

Powell GA, Bonnett LJ, Tudur-Smith C, Hughes DA, Williamson PR, Marson AG.

Trials. 2017 Aug 23;18(1):389. doi: 10.1186/s13063-017-2135-9. Review.

43.

Antagonistic pleiotropy and mutation accumulation influence human senescence and disease.

Rodríguez JA, Marigorta UM, Hughes DA, Spataro N, Bosch E, Navarro A.

Nat Ecol Evol. 2017 Jan 30;1(3):55. doi: 10.1038/s41559-016-0055.

PMID:
28812720
44.

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.

Arends M, Biegstraaten M, Hughes DA, Mehta A, Elliott PM, Oder D, Watkinson OT, Vaz FM, van Kuilenburg ABP, Wanner C, Hollak CEM.

PLoS One. 2017 Aug 1;12(8):e0182379. doi: 10.1371/journal.pone.0182379. eCollection 2017.

45.

BNDF methylation in mothers and newborns is associated with maternal exposure to war trauma.

Kertes DA, Bhatt SS, Kamin HS, Hughes DA, Rodney NC, Mulligan CJ.

Clin Epigenetics. 2017 Jun 30;9:68. doi: 10.1186/s13148-017-0367-x. eCollection 2017.

46.

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.

Arends M, Wijburg FA, Wanner C, Vaz FM, van Kuilenburg ABP, Hughes DA, Biegstraaten M, Mehta A, Hollak CEM, Langeveld M.

Mol Genet Metab. 2017 Jun;121(2):157-161. doi: 10.1016/j.ymgme.2017.05.001. Epub 2017 May 4.

PMID:
28495078
47.

Do guidelines for treating chest disease in children use Cochrane Reviews effectively? A systematic review.

Prayle AP, Cox T, Smith SJ, Rycroft-Malone J, Thomas KS, Hughes DA, Smyth AR.

Thorax. 2017 Apr 26. pii: thoraxjnl-2016-208790. doi: 10.1136/thoraxjnl-2016-208790. [Epub ahead of print]

48.

Exploiting social influence to magnify population-level behaviour change in maternal and child health: study protocol for a randomised controlled trial of network targeting algorithms in rural Honduras.

Shakya HB, Stafford D, Hughes DA, Keegan T, Negron R, Broome J, McKnight M, Nicoll L, Nelson J, Iriarte E, Ordonez M, Airoldi E, Fowler JH, Christakis NA.

BMJ Open. 2017 Mar 13;7(3):e012996. doi: 10.1136/bmjopen-2016-012996.

49.

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.

Biegstraaten M, Cox TM, Belmatoug N, Berger MG, Collin-Histed T, Vom Dahl S, Di Rocco M, Fraga C, Giona F, Giraldo P, Hasanhodzic M, Hughes DA, Iversen PO, Kiewiet AI, Lukina E, Machaczka M, Marinakis T, Mengel E, Pastores GM, Plöckinger U, Rosenbaum H, Serratrice C, Symeonidis A, Szer J, Timmerman J, Tylki-Szymańska A, Weisz Hubshman M, Zafeiriou DI, Zimran A, Hollak CEM.

Blood Cells Mol Dis. 2018 Feb;68:203-208. doi: 10.1016/j.bcmd.2016.10.008. Epub 2016 Oct 24.

50.

Societal perspective on access to publicly subsidised medicines: A cross sectional survey of 3080 adults in Australia.

Chim L, Salkeld G, Kelly P, Lipworth W, Hughes DA, Stockler MR.

PLoS One. 2017 Mar 1;12(3):e0172971. doi: 10.1371/journal.pone.0172971. eCollection 2017.

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