Claire Hartley

Claire Hartley

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Claire Hartley

Claire Hartley

Publications by authors named "Claire Hartley"

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10Publications

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Schwannomatosis: a genetic and epidemiological study.

J Neurol Neurosurg Psychiatry 2018 11 16;89(11):1215-1219. Epub 2018 Jun 16.

Department of Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/jnnp-2018-318538DOI Listing
November 2018

Challenge for a new era-importance of ensuring accuracy of genotype in cystic fibrosis registries.

J Cyst Fibros 2016 09 9;15(5):e50-1. Epub 2016 Apr 9.

Manchester Adult Cystic Fibrosis Centre, University Hospital of South Manchester, Southmoor Road, Manchester, M23 9LT, UK; Centre for Respiratory Medicine and Allergy, Institute of Inflammation and Repair, Manchester Academic Health Science Centre, University of Manchester, Manchester M23 9LT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2016.03.003DOI Listing
September 2016

Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.

Hum Mol Genet 2013 Dec 15;22(25):5262-75. Epub 2013 Aug 15.

Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, The University of Manchester, Manchester M13 9PT, England.

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http://dx.doi.org/10.1093/hmg/ddt383DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3842181PMC
December 2013

Trypanosoma brucei BRCA2 acts in a life cycle-specific genome stability process and dictates BRC repeat number-dependent RAD51 subnuclear dynamics.

Nucleic Acids Res 2013 Jan 7;41(2):943-60. Epub 2012 Dec 7.

The Wellcome Trust Centre for Molecular Parasitology, College of Medical Veterinary and Life Sciences, Institute of Infection, Immunity and Inflammation, University of Glasgow, Sir Graeme Davies Building, 120 University Place, Glasgow G12 8TA, UK.

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http://dx.doi.org/10.1093/nar/gks1192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3553974PMC
January 2013

Trypanosoma brucei BRCA2 acts in antigenic variation and has undergone a recent expansion in BRC repeat number that is important during homologous recombination.

Mol Microbiol 2008 Jun 22;68(5):1237-51. Epub 2008 Apr 22.

The Wellcome Centre for Molecular Parasitology and Faculty of Biomedical and Life Sciences, University of Glasgow, Glasgow Biomedical Research Centre, 120 University Place, Glasgow G12 8TA, UK.

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http://dx.doi.org/10.1111/j.1365-2958.2008.06230.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2408642PMC
June 2008

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

J Clin Invest 2005 Oct;115(10):2832-42

Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), Churchill Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1172/JCI22900DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1201660PMC
October 2005