Anne E Hughes

Anne E Hughes

UNVERIFIED PROFILE

Are you Anne E Hughes?   Register this Author

Register author
Anne E Hughes

Anne E Hughes

Publications by authors named "Anne E Hughes"

Are you Anne E Hughes?   Register this Author

33Publications

602Reads

27Profile Views

Rare CFH mutations and early-onset age-related macular degeneration.

Acta Ophthalmol 2016 May 13;94(3):e247-8. Epub 2015 Aug 13.

Centre for Public Health, Queen's University Belfast, Belfast, BT12 6BL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/aos.12822DOI Listing
May 2016

Susceptibility to invasive meningococcal disease: polymorphism of complement system genes and Neisseria meningitidis factor H binding protein.

PLoS One 2015 23;10(3):e0120757. Epub 2015 Mar 23.

Formerly of Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, United Kingdom.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0120757PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370764PMC
February 2016

Re: "The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis".

Am J Epidemiol 2013 May 9;177(9):1022-4. Epub 2013 Apr 9.

Centre for Public Health, School of Medicine, Dentistry, and Biomedical Sciences, Queen's University Belfast, Belfast BT12 6BL, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/aje/kwt067DOI Listing
May 2013

Genotype-phenotype associations in neovascular age-related macular degeneration.

Retina 2012 Oct;32(9):1950-8

Centre for Vision and Vascular Science, Queen's University Belfast, Belfast, Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IAE.0b013e31824dadf1DOI Listing
October 2012

A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy.

Invest Ophthalmol Vis Sci 2012 Jul 12;53(8):4748-53. Epub 2012 Jul 12.

Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen’s University Belfast, Royal Victoria Hospital, Belfast, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.12-10061DOI Listing
July 2012

Macular degeneration genetics.

Ophthalmology 2012 Jun;119(6):1287-8.e1; author reply 1288

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2012.02.042DOI Listing
June 2012

Mutation altering the miR-184 seed region causes familial keratoconus with cataract.

Am J Hum Genet 2011 Nov 11;89(5):628-33. Epub 2011 Oct 11.

Centre for Public Health, The Queen's University of Belfast, Royal Victoria Hospital, Grosvenor Road, Belfast BT12 6BN, Northern Ireland, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2011.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3213395PMC
November 2011

Complement factor B polymorphism 32W protects against age-related macular degeneration.

Mol Vis 2011 Apr 20;17:983-8. Epub 2011 Apr 20.

Centre for Public Health, Queen's University Belfast, UK.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084221PMC
April 2011

Common polymorphisms of Fibulin-5 and the risk of abdominal aortic aneurysm development.

Vasc Med 2010 Apr 4;15(2):113-7. Epub 2010 Feb 4.

Vascular and Endovascular Surgery Department, Belfast City Hospital, Belfast, Northern Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1358863X09355667DOI Listing
April 2010

Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration.

Invest Ophthalmol Vis Sci 2009 Feb 20;50(2):533-9. Epub 2008 Sep 20.

Centre for Vision Sciences, Queen's University of Belfast, Belfast, Northern Ireland, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.08-2275DOI Listing
February 2009

C-reactive protein (CRP) elevation in patients with abdominal aortic aneurysm is independent of the most important CRP genetic polymorphism.

J Vasc Surg 2009 Jan 1;49(1):178-84. Epub 2008 Oct 1.

Vascular and Endovascular Surgery Department, Belfast City Hospital, Belfast, Northern Ireland, United Kingdom.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S074152140801288
Publisher Site
http://dx.doi.org/10.1016/j.jvs.2008.07.081DOI Listing
January 2009

Chromosome 9p21.3 is associated with early-onset coronary heart disease in the Irish population.

Dis Markers 2008 ;25(2):81-5

Centre for Clinical and Population Sciences, Queen's University Belfast, Institute of Clinical Science, Grosvenor Road, Belfast, Northern Ireland, UK.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827790PMC
http://dx.doi.org/10.1155/2008/375617DOI Listing
December 2008

A population-based association study of SNPs of GSTP1, MnSOD, GPX2 and Barrett's esophagus and esophageal adenocarcinoma.

Carcinogenesis 2007 Jun 2;28(6):1323-8. Epub 2007 Feb 2.

Department of Medical Genetics, Queen's University Belfast, Royal Group of Hospitals, Grosvenor Road, Belfast, Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/carcin/bgm007DOI Listing
June 2007

Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.

J Bone Miner Metab 2007 20;25(3):159-64. Epub 2007 Apr 20.

National Institute for Genetic Engineering and Biotechnology, Tehran-Karaj Expressway, Km 17 Pajouhesh Boulevard, Tehran, Iran.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00774-007-0748-x
Publisher Site
http://dx.doi.org/10.1007/s00774-007-0748-xDOI Listing
May 2007

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.

Nat Genet 2006 Oct 24;38(10):1173-7. Epub 2006 Sep 24.

Department of Medical Genetics, Queen's University, Belfast, Belfast BT12 6BL, UK.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ng1890
Publisher Site
http://dx.doi.org/10.1038/ng1890DOI Listing
October 2006

Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.

BMC Med Genet 2006 Jul 27;7:65. Epub 2006 Jul 27.

Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-7-65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1552052PMC
July 2006

Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis.

Mol Vis 2006 May 12;12:499-505. Epub 2006 May 12.

Department of Medical Genetics, Queen's University of Belfast, Royal Victoria Hospital, Belfast, United Kingdom.

View Article

Download full-text PDF

Source
May 2006

Evidence for association of endothelial nitric oxide synthase gene in subjects with glaucoma and a history of migraine.

Invest Ophthalmol Vis Sci 2005 Sep;46(9):3221-6

Department of Ophthalmology, The Royal Group of Hospitals, Belfast, N. Ireland, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.05-0368DOI Listing
September 2005

Lack of support for the presence of an osteoarthritis susceptibility locus on chromosome 6p.

Arthritis Rheum 2005 Jul;52(7):2040-3

Department of Rheumatology, Musgrave Park Hospital, Belfast, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/art.21120DOI Listing
July 2005

Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness.

Otol Neurotol 2004 Nov;25(6):930-4

Northern Ireland Regional Cochlear Implant Center, Belfast City Hospital, Belfast, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00129492-200411000-00012DOI Listing
November 2004

Connexin 26 (GJB2) gene-related deafness and speech intelligibility after cochlear implantation.

Otol Neurotol 2004 Nov;25(6):935-42

Northern Ireland Regional Cochlear Implant Center, Belfast City Hospital, Belfast, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00129492-200411000-00013DOI Listing
November 2004

Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.

Invest Ophthalmol Vis Sci 2003 Dec;44(12):5063-6

Department of Medical Genetics, Queen's University, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, Northern Ireland, U.K.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.03-0399DOI Listing
December 2003

Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.

Blood 2002 Nov 5;100(10):3447-9. Epub 2002 Jul 5.

Department of Haematology, Belfast City Hospital, Northern Ireland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/blood-2002-05-1405DOI Listing
November 2002

Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis.

J Bone Miner Res 2002 Jan;17(1):26-9

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri 63131, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1359/jbmr.2002.17.1.26DOI Listing
January 2002