Esther Kinning

Esther Kinning

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Esther Kinning

Esther Kinning

Publications by authors named "Esther Kinning"

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Proteomic Evidence of Biological Aging in a Child with a Compound Heterozygous ZMPSTE24 Mutation.

Proteomics Clin Appl 2019 03 27;13(2):e1800135. Epub 2018 Dec 27.

Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, G12 8TA, UK.

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http://dx.doi.org/10.1002/prca.201800135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492098PMC
March 2019

A novel COL1A1 mutation causing a variant of osteogenesis imperfecta.

Clin Dysmorphol 2017 Oct;26(4):243-246

aDevelopmental Endocrinology Research Group, Child Health, School of Medicine, University of Glasgow, Royal Hospital for Children bWest of Scotland Genetics Service, Laboratory Medicine Building, Queen Elizabeth Hospitals, Glasgow cSheffield Diagnostics Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000201DOI Listing
October 2017

An Unbalanced Rearrangement of Chromosomes 4:20 is Associated with Childhood Osteoporosis and Reduced Caspase-3 Levels.

J Pediatr Genet 2016 Sep 3;5(3):167-73. Epub 2016 Jun 3.

Child Health, School of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Scotland.

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http://dx.doi.org/10.1055/s-0036-1584359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999330PMC
September 2016

A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations.

J Clin Endocrinol Metab 2015 Apr 9;100(4):1221-4. Epub 2015 Feb 9.

Developmental Endocrinology Research Group (A.K.L.-H., S.F.A.), School of Medicine, University of Glasgow, Royal Hospital for Sick Children (RHSC), Yorkhill, Glasgow, G3 8SJ United Kingdom; Department of Clinical Genetics (E.K.), Southern General Hospital, Glasgow, G51 4TF United Kingdom; Laboratory of Bone and Joint Diseases (A.I., Z.W., S.I.), Center for Integrative Medical Sciences, RIKEN, Tokyo 108-8639, Japan; Department of Human Genetics (N.M.), Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; and Department of Biochemistry (J.M.), Southern General Hospital, 1345 Govan Rd, Glasgow, G51 4TF United Kingdom.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2014-3852DOI Listing
April 2015

Germline FH mutations presenting with pheochromocytoma.

J Clin Endocrinol Metab 2014 Oct 8;99(10):E2046-50. Epub 2014 Jul 8.

Department of Medical Genetics (G.R.C., E.R.M.), University of Cambridge and National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, United Kingdom; Medical Research Council (MRC) Cancer Unit (M.S., E.G., C.F.), University of Cambridge, Hutchison/MRC Research Centre, Cambridge CB2 0XZ, United Kingdom; Centre for Rare Diseases and Personalized Medicine (D.M.W., G.K., E.R.W.), University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom; West Midlands Regional Genetics Service (G.K., E.R.W.), Birmingham Women's Hospital, Birmingham B15 2TG, United Kingdom; Division of Genetics and Molecular Medicine (M.A.S., R.C.T.), King's College London School of Medicine, Guy's Hospital, London WC2R 2LS, United Kingdom; Department of Clinical Genetics (J.N.B.), University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, United Kingdom; Department of Clinical Genetics (E.K.), Royal Hospital for Sick Children (Yorkhill), Glasgow G3 8SJ, United Kingdom; and Department of Medical Genetics (P.J.M.), Queen's University Belfast, Belfast Health and Social Care Trust, Belfast BT9 7AB, United Kingdom.

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http://dx.doi.org/10.1210/jc.2014-1659DOI Listing
October 2014

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

A multidisciplinary approach to understanding skeletal dysplasias.

Expert Rev Endocrinol Metab 2011 Sep;6(5):731-743

d Department of Child Health, University of Glasgow, Royal Hospital for Sick Children (Yorkhill), Dalnair Street, Glasgow, G3 8SJ, UK.

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http://dx.doi.org/10.1586/eem.11.61DOI Listing
September 2011

Novel features in auriculo-condylar syndrome.

Clin Dysmorphol 2011 Jan;20(1):1-10

Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32833e56f5DOI Listing
January 2011

Arthrogryposis in association with Peters' anomaly.

Clin Dysmorphol 2008 Jul;17(3):177-9

Department of Clinical Genetics, Leicester Royal Infirmary, Infirmary Square, Leicester, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3282f4a127DOI Listing
July 2008

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

Eur J Hum Genet 2008 Jan 17;16(1):18-27. Epub 2007 Oct 17.

National Genetics Reference Laboratory (Wessex), Salisbury NHS Foundation Trust, Salisbury, Wiltshire, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201932DOI Listing
January 2008