Carmel Toomes

Carmel Toomes

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Carmel Toomes

Carmel Toomes

Publications by authors named "Carmel Toomes"

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DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.

Retina 2018 Mar;38(3):620-628

University College London Institute of Ophthalmology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1097/IAE.0000000000001570DOI Listing
March 2018

Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion.

Oncol Rep 2017 Jul 22;38(1):283-292. Epub 2017 May 22.

Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Wellcome Trust Brenner Building, St. James's University Hospital, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.3892/or.2017.5656DOI Listing
July 2017

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

JAMA Ophthalmol 2017 04;135(4):339-347

Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2017.0046DOI Listing
April 2017

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

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.

Cornea 2014 Mar;33(3):247-51

*Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, United Kingdom; †Department of Ophthalmology, St James's University Hospital, Leeds, United Kingdom; ‡Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico; §Department of Genetics, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico; and ¶Department of Ophthalmology, Bradford Royal Infirmary, Bradford, United Kingdom.

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http://dx.doi.org/10.1097/ICO.0000000000000041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195577PMC
March 2014

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.

Dev Biol 2013 May 27;377(1):55-66. Epub 2013 Feb 27.

Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, Beckett Street, The University of Leeds, Leeds, LS9 7 TF, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S001216061300107
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http://dx.doi.org/10.1016/j.ydbio.2013.02.015DOI Listing
May 2013

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

Clin Exp Ophthalmol 2012 Jul 19;40(5):476-83. Epub 2012 Jun 19.

Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology Vitreo-retinal Unit, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria.

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http://dx.doi.org/10.1111/j.1442-9071.2012.02804.xDOI Listing
July 2012

DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.

Hum Mutat 2011 Dec 19;32(12):1359-66. Epub 2011 Sep 19.

Leeds Institute of Molecular Medicine, University of Leeds, UK.

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http://dx.doi.org/10.1002/humu.21597DOI Listing
December 2011

Changing the status quo bias.

Br J Ophthalmol 2011 Jul 17;95(7):1034. Epub 2011 Jan 17.

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http://dx.doi.org/10.1136/bjo.2010.200428DOI Listing
July 2011

Loss of CSMD1 expression is associated with high tumour grade and poor survival in invasive ductal breast carcinoma.

Breast Cancer Res Treat 2010 Jun 8;121(3):555-63. Epub 2009 Aug 8.

Leeds Institute of Molecular Medicine, University of Leeds, Wellcome Trust Brenner Building, Level 8, St James's University Hospital, Leeds LS9 7TF, UK.

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http://dx.doi.org/10.1007/s10549-009-0500-4DOI Listing
June 2010

Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?

Ophthalmology 2009 Aug 5;116(8):1522-4. Epub 2009 Jun 5.

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

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http://dx.doi.org/10.1016/j.ophtha.2009.02.032DOI Listing
August 2009

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

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.

Am J Ophthalmol 2007 Apr 15;143(4):656-62. Epub 2007 Feb 15.

Ocular Diagnostic Clinic, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ajo.2006.12.038DOI Listing
April 2007

Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).

Mol Vis 2004 Jan 15;10:37-42. Epub 2004 Jan 15.

Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds, UK.

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January 2004

Polymorphisms in OPA1 are associated with normal tension glaucoma.

Mol Vis 2003 Sep 22;9:460-4. Epub 2003 Sep 22.

Division of Ophthalmology, University of Bristol, Bristol, United Kingdom.

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September 2003