Emma L Edghill

Emma L Edghill

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Emma L Edghill

Emma L Edghill

Publications by authors named "Emma L Edghill"

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32Publications

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Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.

Rev Endocr Metab Disord 2010 Sep;11(3):193-8

Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, University of Exeter, Barrack Road, Exeter, UK.

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http://dx.doi.org/10.1007/s11154-010-9149-xDOI Listing
September 2010

Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.

JOP 2010 Jan 8;11(1):14-7. Epub 2010 Jan 8.

Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom.

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January 2010

Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.

J Pediatr Hematol Oncol 2009 Jul;31(7):527-9

Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.

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http://dx.doi.org/10.1097/MPH.0b013e3181a974c8DOI Listing
July 2009

A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.

Kidney Int 2008 Oct 4;74(8):1094-9. Epub 2008 Jun 4.

Department of Internal Medicine, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1038/ki.2008.227DOI Listing
October 2008

Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome.

Nephrol Dial Transplant 2008 Jul 14;23(7):2412-5. Epub 2008 Apr 14.

Exeter Kidney Unit, Royal Devon and Exeter NHS Foundation Trust, UK.

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http://dx.doi.org/10.1093/ndt/gfn169DOI Listing
July 2008

Transcription factor HNF1beta and novel partners affect nephrogenesis.

Kidney Int 2008 Jul 16;74(2):210-7. Epub 2008 Apr 16.

Institut für Zellbiologie Tumorforschung, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1038/ki.2008.149DOI Listing
July 2008

Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

Nephrol Dial Transplant 2008 Feb 30;23(2):627-35. Epub 2007 Oct 30.

1Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK.

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https://academic.oup.com/ndt/article-lookup/doi/10.1093/ndt/
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http://dx.doi.org/10.1093/ndt/gfm603DOI Listing
February 2008

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

J Clin Endocrinol Metab 2007 May 27;92(5):1773-7. Epub 2007 Feb 27.

Department of Molecular Genetics, Royal Devon and Exeter National Health Service Foundation Trust, Barrack Road, Exeter, United Kingdom.

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http://dx.doi.org/10.1210/jc.2006-2817DOI Listing
May 2007

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Eur J Hum Genet 2006 Jul 3;14(7):824-30. Epub 2006 May 3.

Diabetes Research Laboratories, Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201629DOI Listing
July 2006

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Hum Mol Genet 2005 Apr 17;14(7):925-34. Epub 2005 Feb 17.

Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DW, USA.

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http://dx.doi.org/10.1093/hmg/ddi086DOI Listing
April 2005

Mutations in PTF1A cause pancreatic and cerebellar agenesis.

Nat Genet 2004 Dec 14;36(12):1301-5. Epub 2004 Nov 14.

Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK.

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http://dx.doi.org/10.1038/ng1475DOI Listing
December 2004