Ellard S - Search Results

1

Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.

Haghighi A, Razzaghy-Azar M, Talea A, Sadeghian M, Ellard S, Haghighi A. Haghighi A, et al. Among authors: ellard s. Eur J Med Genet. 2012 Nov;55(11):620-4. doi: 10.1016/j.ejmg.2012.07.011. Epub 2012 Aug 1. Eur J Med Genet. 2012. PMID: 22902344 Free PMC article.

2

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.

Setoodeh A, Haghighi A, Saleh-Gohari N, Ellard S, Haghighi A. Setoodeh A, et al. Among authors: ellard s. Gene. 2013 May 1;519(2):295-7. doi: 10.1016/j.gene.2013.02.008. Epub 2013 Feb 20. Gene. 2013. PMID: 23454484 Free PMC article.

3

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.

Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, Ullah I, Alyaarubi S, Gardner D, Ellard S, Hattersley AT, Flanagan SE. Johnson MB, et al. Among authors: ellard s. Diabetes. 2017 Aug;66(8):2316-2322. doi: 10.2337/db17-0040. Epub 2017 May 4. Diabetes. 2017. PMID: 28473463 Free PMC article.

4

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, Setoodeh A, Haghighi A, Haghighi A, Shaalan Y; International Neonatal Diabetes Consortium; Hattersley AT, Ellard S, De Franco E. Habeb AM, et al. Among authors: ellard s. Diabetologia. 2018 May;61(5):1027-1036. doi: 10.1007/s00125-018-4554-x. Epub 2018 Feb 15. Diabetologia. 2018. PMID: 29450569 Free PMC article.

5

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.

Christesen HB, Tribble ND, Molven A, Siddiqui J, Sandal T, Brusgaard K, Ellard S, Njølstad PR, Alm J, Brock Jacobsen B, Hussain K, Gloyn AL. Christesen HB, et al. Among authors: ellard s. Eur J Endocrinol. 2008 Jul;159(1):27-34. doi: 10.1530/EJE-08-0203. Epub 2008 May 1. Eur J Endocrinol. 2008. PMID: 18450771

6

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.

Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Ben-Omran T, Banerjee I, Shield JP, Ellard S, Hussain K. Kapoor RR, et al. Among authors: ellard s. Eur J Endocrinol. 2009 Nov;161(5):731-5. doi: 10.1530/EJE-09-0615. Epub 2009 Aug 18. Eur J Endocrinol. 2009. PMID: 19690084 Free PMC article.

7

Novel GLIS3 mutations demonstrate an extended multisystem phenotype.

Dimitri P, Warner JT, Minton JA, Patch AM, Ellard S, Hattersley AT, Barr S, Hawkes D, Wales JK, Gregory JW. Dimitri P, et al. Among authors: ellard s. Eur J Endocrinol. 2011 Mar;164(3):437-43. doi: 10.1530/EJE-10-0893. Epub 2010 Dec 7. Eur J Endocrinol. 2011. PMID: 21139041

8

The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.

Banerjee I, Skae M, Flanagan SE, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove KE, Dunne MJ, Clayton PE. Banerjee I, et al. Among authors: ellard s. Eur J Endocrinol. 2011 May;164(5):733-40. doi: 10.1530/EJE-10-1136. Epub 2011 Mar 4. Eur J Endocrinol. 2011. PMID: 21378087

9

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

Calton EA, Temple IK, Mackay DJ, Lever M, Ellard S, Flanagan SE, Davies JH, Hussain K, Gray JC. Calton EA, et al. Among authors: ellard s. Eur J Med Genet. 2013 Feb;56(2):114-7. doi: 10.1016/j.ejmg.2012.12.001. Epub 2012 Dec 20. Eur J Med Genet. 2013. PMID: 23261959

10

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K. Kapoor RR, et al. Among authors: ellard s. Eur J Endocrinol. 2013 Mar 15;168(4):557-64. doi: 10.1530/EJE-12-0673. Print 2013 Apr. Eur J Endocrinol. 2013. PMID: 23345197 Free PMC article.

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