Publications by authors named "Debbie Shears"

10Publications

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

Am J Med Genet A 2014 May 24;164A(5):1289-92. Epub 2014 Mar 24.

Center for Human Genetics, IPG, Charleroi, (Gosselies), Belgium.

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http://dx.doi.org/10.1002/ajmg.a.36442DOI Listing
May 2014

Reclassification of diabetes etiology in a family with multiple diabetes phenotypes.

J Clin Endocrinol Metab 2014 Jun 27;99(6):E1067-71. Epub 2014 Feb 27.

Oxford Centre for Diabetes, Endocrinology, and Metabolism (F.K.K., A.R., G.T., A.B., A.L.W., A.L.G., K.R.O.), University of Oxford, Oxford OX3 7LE, United Kingdom; Oxford National Institute for Health Research Biomedical Centre (F.K.K., G.T., A.L.G., K.R.O.), Churchill Hospital, Oxford OX3 7LJ, United Kingdom; Department of Clinical Genetics (D.S.), Oxford University Hospitals National Health Service Trust, Oxford OX3 9DU, United Kingdom; Department of Pediatrics (N.P.M.), Royal Berkshire National Health Service Foundation Trust, Reading RG1 5AN, United Kingdom; and Institute of Biomedical and Clinical Science (S.E.), University of Exeter Medical School, Exeter EX4 4PY, United Kingdom.

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http://dx.doi.org/10.1210/jc.2013-3641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186945PMC
June 2014

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.

Hum Mol Genet 2011 Apr 24;20(8):1547-59. Epub 2011 Jan 24.

Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

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http://dx.doi.org/10.1093/hmg/ddr032DOI Listing
April 2011