Colin E Willoughby

Colin E Willoughby

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Colin E Willoughby

Colin E Willoughby

Publications by authors named "Colin E Willoughby"

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Novel clinical features associated with Clouston syndrome.

Int J Dermatol 2019 Aug 5;58(8):e143-e146. Epub 2019 Jun 5.

Unit of Dentistry, Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

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http://dx.doi.org/10.1111/ijd.14507DOI Listing
August 2019

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in .

Mol Syndromol 2019 May 9;10(3):167-170. Epub 2019 Feb 9.

Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of Los Andes, Mérida, Venezuela.

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http://dx.doi.org/10.1159/000496553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528095PMC
May 2019

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Nat Commun 2019 01 8;10(1):155. Epub 2019 Jan 8.

Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4029, Australia.

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http://www.nature.com/articles/s41467-018-07819-1
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http://dx.doi.org/10.1038/s41467-018-07819-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325104PMC
January 2019

Improving precision for detecting change in the shape of the cornea in patients with keratoconus.

Sci Rep 2018 08 17;8(1):12345. Epub 2018 Aug 17.

Department of Corneal and External Eye Diseases, St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom.

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http://dx.doi.org/10.1038/s41598-018-30173-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097997PMC
August 2018

Gene-based antiangiogenic applications for corneal neovascularization.

Surv Ophthalmol 2018 Mar - Apr;63(2):193-213. Epub 2017 Nov 15.

Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, United Kingdom; St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom; Biomedical Sciences Research Institute, Ulster University, Coleraine, Northern Ireland, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.survophthal.2017.10.006DOI Listing
May 2018

Comparison of preservation and transportation protocols for preloaded Descemet membrane endothelial keratoplasty.

Br J Ophthalmol 2018 04 13;102(4):549-555. Epub 2017 Nov 13.

Department of Eye and Vision Science, University of Liverpool Institute of Ageing and Chronic Disease, Liverpool, UK.

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http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2017-3109
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http://dx.doi.org/10.1136/bjophthalmol-2017-310906DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890643PMC
April 2018

Imaging of Corneal Neovascularization: Optical Coherence Tomography Angiography and Fluorescence Angiography.

Invest Ophthalmol Vis Sci 2018 03;59(3):1263-1269

Department of Corneal and External Eye Diseases, St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom.

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http://dx.doi.org/10.1167/iovs.17-22035DOI Listing
March 2018

Deformation velocity imaging using optical coherence tomography and its applications to the cornea.

Biomed Opt Express 2017 Dec 13;8(12):5579-5593. Epub 2017 Nov 13.

Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, L7 8TX, UK.

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http://dx.doi.org/10.1364/BOE.8.005579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5745104PMC
December 2017

Detecting Change in Conjunctival Hyperemia Using a Pixel Densitometry Index.

Ocul Immunol Inflamm 2019 2;27(2):276-281. Epub 2017 Nov 2.

a Department of Corneal and External Eye Diseases, St. Paul's Eye Unit , The Royal Liverpool University Hospital , Liverpool , UK.

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http://dx.doi.org/10.1080/09273948.2017.1387276DOI Listing
November 2017

Mitochondrial dysfunction and oxidative stress in corneal disease.

Mitochondrion 2017 09 23;36:103-113. Epub 2017 May 23.

Corneal and External Eye Service, St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom; Institute of Ageing and Chronic Disease, Department of Eye and Vision Science, University of Liverpool, Liverpool, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.05.009DOI Listing
September 2017

Outcome of Descemet stripping automated endothelial keratoplasty in eyes with an Ahmed glaucoma valve.

Graefes Arch Clin Exp Ophthalmol 2017 May 17;255(5):987-993. Epub 2017 Mar 17.

St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, England.

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http://dx.doi.org/10.1007/s00417-017-3612-2DOI Listing
May 2017

Avoiding Complications Associated With Preloaded Ultrathin Descemet Stripping Automated Endothelial Keratoplasty.

Cornea 2017 04;36(4):e12-e13

*International Center for Ocular Physiopathology, The Veneto Eye Bank Foundation, Venice, Italy †Department of Ophthalmology, Medical University of Innsbruck, Innsbruck, Austria ‡Department of Ophthalmology, St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom §Department of Eye and Vision Science, University of Liverpool, Liverpool, United Kingdom.

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http://dx.doi.org/10.1097/ICO.0000000000001156DOI Listing
April 2017

Preparation of ultrathin grafts for Descemet-stripping endothelial keratoplasty with a single microkeratome pass.

J Cataract Refract Surg 2017 01;43(1):12-15

From the Department of Corneal and External Eye Diseases (Romano, Myneni, Batterbury, Willoughby, Kaye), St. Paul's Eye Unit, Royal Liverpool University Hospital, and the Department of Eye and Vision Science (Willoughby, Kaye), University of Liverpool, Liverpool, United Kingdom; the Department of Ophthalmology (Steger), Medical University of Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.jcrs.2016.12.009DOI Listing
January 2017

Further evidence for heredity of pterygium.

Ophthalmic Genet 2016 12 2;37(4):434-436. Epub 2016 Mar 2.

a Department of Corneal and External Eye Diseases, St. Paul's Eye Unit , Royal Liverpool University Hospital , Liverpool , UK.

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http://dx.doi.org/10.3109/13816810.2015.1111911DOI Listing
December 2016

Facilitating a close interaction between basic, translational and clinical science: .

BMJ Open Ophthalmol 2017 6;1(1):e000001. Epub 2016 Sep 6.

Dept of Eye and Vision Science, Institute of Ageing and Chronic Disease, United Kingdom and St. Paul's Eye Unit, University of Liverpool, Liverpool, United Kingdom.

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http://dx.doi.org/10.1136/bmjophth-2016-000001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759396PMC
September 2016

Method for Angiographically Guided Fine-Needle Diathermy in the Treatment of Corneal Neovascularization.

Cornea 2016 Jul;35(7):1029-32

*Department of Corneal and External Eye Diseases, St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom; †Department of Ophthalmology, Medical University of Innsbruck, Innsbruck, Austria; and ‡Department of Eye and Vision Science, University of Liverpool, Liverpool, United Kingdom.

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http://pdfs.journals.lww.com/corneajrnl/2016/07000/Method_fo
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http://dx.doi.org/10.1097/ICO.0000000000000865DOI Listing
July 2016

Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa.

Ophthalmic Genet 2015 ;36(3):239-43

a Department of Ophthalmology , Belfast Health and Social Care Trust, Royal Victoria Hospital , Belfast , Northern Ireland , UK .

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http://dx.doi.org/10.3109/13816810.2014.958862DOI Listing
April 2016

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.

Ophthalmology 2016 Apr 16;123(4):709-22. Epub 2016 Jan 16.

Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2015.12.008DOI Listing
April 2016

Femtosecond Laser-Assisted Lamellar Keratectomy for Corneal Opacities Secondary to Anterior Corneal Dystrophies: An Interventional Case Series.

Cornea 2016 Jan;35(1):6-13

*Department of Corneal and External Eye Diseases, St. Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom; †Department of Eye and Vision Science, University of Liverpool, Liverpool, United Kingdom; and ‡Department of Ophthalmology, Medical University of Innsbruck, Austria.

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http://dx.doi.org/10.1097/ICO.0000000000000665DOI Listing
January 2016

Angiographic and In Vivo Confocal Microscopic Characterization of Human Corneal Blood and Presumed Lymphatic Neovascularization: A Pilot Study.

Cornea 2015 Nov;34(11):1459-65

*Department of Corneal and External Eye Diseases, St Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom; †Department of Eye and Vision Science, University of Liverpool, Liverpool, United Kingdom; and ‡Department of Corneal and External Eye Diseases, St Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom; Department of Eye and Vision Science, University of Liverpool, Liverpool, United Kingdom.

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http://dx.doi.org/10.1097/ICO.0000000000000609DOI Listing
November 2015

Reliability of the Effect of Artificial Anterior Chamber Pressure and Corneal Drying on Corneal Graft Thickness.

Cornea 2015 Aug;34(8):866-9

*Department of Corneal and External Eye Diseases, St Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, United Kingdom; †Department of Eye and Vision Science, University of Liverpool, Liverpool, United Kingdom; and ‡School of Engineering, University of Liverpool, Brownlow Hill, Liverpool, United Kingdom.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/ICO.0000000000000451DOI Listing
August 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

Corneal angiography for guiding and evaluating fine-needle diathermy treatment of corneal neovascularization.

Ophthalmology 2015 Jun 1;122(6):1079-84. Epub 2015 Apr 1.

St Paul's Eye Unit, Royal Liverpool University Hospital, Liverpool, UK; Department of Eye and Vision Science, University of Liverpool, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01616420150012
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http://dx.doi.org/10.1016/j.ophtha.2015.02.012DOI Listing
June 2015

Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.

Ophthalmic Genet 2015 Mar 10;36(1):86-8. Epub 2013 Sep 10.

Department of Ophthalmology, Royal Victoria Hospital, Belfast , Northern Ireland , UK .

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http://dx.doi.org/10.3109/13816810.2013.833634DOI Listing
March 2015

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Hum Mol Genet 2014 Oct 3;23(20):5527-35. Epub 2014 Jun 3.

Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool L69 3GA, UK

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http://dx.doi.org/10.1093/hmg/ddu253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168824PMC
October 2014

Marginal corneal vascular arcades.

Invest Ophthalmol Vis Sci 2013 Nov 15;54(12):7470-7. Epub 2013 Nov 15.

Department of Eye and Vision Science, University of Liverpool, Liverpool, United Kingdom.

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http://dx.doi.org/10.1167/iovs.13-12614DOI Listing
November 2013

Amniotic band syndrome associated with an atypical iris and optic nerve defect.

J AAPOS 2013 Oct 17;17(5):539-41. Epub 2013 Sep 17.

Department of Ophthalmology, Royal Victoria Hospital, Belfast, Northern Ireland, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2013.05.013DOI Listing
October 2013

Corneal endothelial dysfunction in Pearson syndrome.

Ophthalmic Genet 2013 Mar-Jun;34(1-2):55-7. Epub 2011 Sep 21.

Department of Ophthalmology, Southport and Ormskirk Hospital NHS Trust, Southport, UK.

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http://dx.doi.org/10.3109/13816810.2011.610862DOI Listing
August 2013

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

Ophthalmic Genet 2013 Mar-Jun;34(1-2):58-60. Epub 2012 Mar 19.

Maxillo-Facial Surgery and Dentistry, Institute for Maternal and Child Health at IRCCS Burlo Garofolo, Trieste, Italy.

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http://www.iedn.org/documents/Glaucoma.pdf
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http://dx.doi.org/10.3109/13816810.2012.666707DOI Listing
August 2013

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

Invest Ophthalmol Vis Sci 2013 May 3;54(5):3215-23. Epub 2013 May 3.

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

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http://dx.doi.org/10.1167/iovs.13-11781DOI Listing
May 2013

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Nat Genet 2013 Feb 6;45(2):155-63. Epub 2013 Jan 6.

Queensland Institute of Medical Research, Statistical Genetics, Herston, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1038/ng.2506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720123PMC
February 2013

Keratoconus in 18 pairs of twins.

Acta Ophthalmol 2012 Sep 8;90(6):e482-6. Epub 2012 Jun 8.

Moorfields Eye Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/j.1755-3768.2012.02448.xDOI Listing
September 2012

Mitochondrial dysfunction in glaucoma: understanding genetic influences.

Mitochondrion 2012 Mar 28;12(2):202-12. Epub 2011 Nov 28.

NIHR Biomedical Research Centre for Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.

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http://dx.doi.org/10.1016/j.mito.2011.11.004DOI Listing
March 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.

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

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.

J Med Genet 2011 Mar 8;48(3):145-51. Epub 2010 Dec 8.

Queen's University Belfast, Centre for Vision and Vascular Science, Ophthalmic Research Centre, Institute of Clinical Science A, Royal Victoria Hospital, Belfast BT12 6BA, N Ireland, UK.

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http://www.tara.tcd.ie/bitstream/handle/2262/55374/PEER_stag
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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.083568
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http://dx.doi.org/10.1136/jmg.2010.083568DOI Listing
March 2011

Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting.

Am J Med Genet A 2010 Mar;152A(3):718-20

Department of Ophthalmology, Royal Victoria Hospital, Belfast, Northern Ireland, UK.

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http://dx.doi.org/10.1002/ajmg.a.33232DOI Listing
March 2010

Replication of the recessive STBMS1 locus but with dominant inheritance.

Invest Ophthalmol Vis Sci 2009 Jul 14;50(7):3210-7. Epub 2009 Feb 14.

Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1167/iovs.07-1631DOI Listing
July 2009

CRYBB1 mutation associated with congenital cataract and microcornea.

Mol Vis 2005 Aug 8;11:587-93. Epub 2005 Aug 8.

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada.

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August 2005

The importance of screening for sight-threatening retinopathy in incontinentia pigmenti.

Pediatr Dermatol 2004 May-Jun;21(3):242-5

Department of Dermatology, Royal Liverpool Children's Hospital, Liverpool, England.

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http://dx.doi.org/10.1111/j.0736-8046.2004.21311.xDOI Listing
September 2004

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

Invest Ophthalmol Vis Sci 2004 Sep;45(9):3122-30

Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1167/iovs.04-0107DOI Listing
September 2004

Lensectomy in the management of glaucoma in spherophakia.

J Cataract Refract Surg 2002 Jun;28(6):1061-4

St. Paul's Eye Unit, Royal Liverpool University Hospital, and Unit of Ophthalmology, Department of Medicine, University of Liverpool, Liverpool, United Kingdom.

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http://dx.doi.org/10.1016/s0886-3350(01)01226-3DOI Listing
June 2002