Chela James

Chela James

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Chela James

Chela James

Publications by authors named "Chela James"

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28Publications

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Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

Eur J Med Genet 2017 Dec 12;60(12):658-666. Epub 2017 Sep 12.

Genetics and Genomics Unit, Dasman Diabetes Institute, P.O.Box 1180, Dasman 15462, Kuwait. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.019DOI Listing
December 2017

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

J Inherit Metab Dis 2017 05 2;40(3):385-394. Epub 2017 Mar 2.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-017-0025-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393281PMC
May 2017

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

JIMD Rep 2016 8;27:79-84. Epub 2015 Oct 8.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK, WC1N 1EH.

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http://dx.doi.org/10.1007/8904_2015_460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580730PMC
May 2016

The use of whole-exome sequencing to disentangle complex phenotypes.

Eur J Hum Genet 2016 Feb 10;24(2):298-301. Epub 2015 Jun 10.

Centre for Translational Omics - GOSgene, UCL Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717198PMC
February 2016

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Eur J Hum Genet 2016 Jan 10;24(1):135-8. Epub 2015 Jun 10.

Reproductive Medicine Unit, Institute for Women's Health, University College London Hospitals, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795223PMC
January 2016

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.

J Med Genet 2014 Nov 5;51(11):748-55. Epub 2014 Sep 5.

Department of Gastroenterology, Great Ormond Street Hospital for Children, London, UK Katholic University Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1136/jmedgenet-2014-102624DOI Listing
November 2014

Severe resistance to weight gain, lack of stored triglycerides in adipose tissue, hypoglycaemia, and increased energy expenditure: a novel disorder of energy homeostasis.

Horm Res Paediatr 2012 26;77(4):261-8. Epub 2012 Apr 26.

Department of Endocrinology, Great Ormond Street Hospital for Children NHS Trust, and The Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1159/000337248DOI Listing
September 2012

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.

J Inherit Metab Dis 2012 Jul 10;35(4):589-601. Epub 2012 Jan 10.

Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Trust WC1N 3JH and Institute of Child Health, University College London, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-011-9441-2DOI Listing
July 2012

A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.

J Pediatr Endocrinol Metab 2011 ;24(5-6):389-91

Clinical and Molecular Genetics Unit, Developmental Endocrinology Research Group, Institute of Child Health, University College London and Great Ormond Street Hospital for Children NHS Trust, London, UK.

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http://dx.doi.org/10.1515/jpem.2011.215DOI Listing
August 2011

Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene.

Pediatr Diabetes 2011 May 6;12(3 Pt 1):192-6. Epub 2010 Sep 6.

Institute of Child Health, University College London, Great Ormond Street Hospital for Children NHS Trust, London, UK.

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http://dx.doi.org/10.1111/j.1399-5448.2010.00683.xDOI Listing
May 2011

Pancreatic β-cell KATP channels: Hypoglycaemia and hyperglycaemia.

Rev Endocr Metab Disord 2010 Sep;11(3):157-63

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s11154-010-9144-2DOI Listing
September 2010

3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

J Clin Endocrinol Metab 2009 Jul 5;94(7):2221-5. Epub 2009 May 5.

London Centre for Paediatric Endocrinology and Metabolism, Hospital for Children National Health Service Trust, London WC1N 3JH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2009-0423DOI Listing
July 2009

Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.

Pediatr Diabetes 2009 May 22;10(3):193-7. Epub 2008 Oct 22.

Department of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/j.1399-5448.2008.00470.xDOI Listing
May 2009

Hyperinsulinism in developmental syndromes.

Endocr Dev 2009 27;14:95-113. Epub 2009 Feb 27.

London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children, UK.

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http://dx.doi.org/10.1159/000207480DOI Listing
May 2009

Advances in the diagnosis and management of hyperinsulinemic hypoglycemia.

Nat Clin Pract Endocrinol Metab 2009 Feb;5(2):101-12

Institute of Child Health, University College London and Great Ormond Street Hospital for Children National Health Services Trust, London, UK.

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http://dx.doi.org/10.1038/ncpendmet1046DOI Listing
February 2009

Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.

Dev Dyn 2005 Apr;232(4):928-38

Molecular Medicine Unit, Institute of Child Health, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1002/dvdy.20268DOI Listing
April 2005

Role of Islet1 in the patterning of murine dentition.

Development 2003 Sep;130(18):4451-60

GKT Dental Institute, Kings College London, Guy's Hospital, London SE1 9RT, UK.

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http://dx.doi.org/10.1242/dev.00631DOI Listing
September 2003

Misexpression of genes in mouse tooth germs using in vitro electroporation.

Connect Tissue Res 2002 ;43(2-3):180-5

Department of Craniofacial Development, GKT Dental Institute, London SE1 9RT, United Kingdom.

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April 2003

Tooth development is independent of a Hox patterning programme.

Dev Dyn 2002 Nov;225(3):332-5

Department of Craniofacial Development, GKT Dental Institute, Kings College London, Guy's Hospital, London Bridge, London, United Kingdom.

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http://dx.doi.org/10.1002/dvdy.10168DOI Listing
November 2002