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Items: 16

1.

A Case Series: Congenital Hyperinsulinism.

Alaei MR, Akbaroghli S, Keramatipour M, Alaei A.

Int J Endocrinol Metab. 2016 Sep 10;14(4):e37311. doi: 10.5812/ijem.37311. eCollection 2016 Oct.

2.

Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.

Güven A, Cebeci AN, Ellard S, Flanagan SE.

J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):197-204. doi: 10.4274/jcrpe.2408. Epub 2015 Dec 18.

3.

Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.

Fan ZC, Ni JW, Yang L, Hu LY, Ma SM, Mei M, Sun BJ, Wang HJ, Zhou WH.

Mol Genet Genomic Med. 2015 Jun 29;3(6):526-36. doi: 10.1002/mgg3.162. eCollection 2015 Nov.

4.

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.

Çamtosun E, Flanagan SE, Ellard S, Şıklar Z, Hussain K, Kocaay P, Berberoğlu M.

J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):144-7. doi: 10.4274/jcrpe.1963.

5.

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia.

Roženková K, Güemes M, Shah P, Hussain K.

J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):86-97. doi: 10.4274/jcrpe.1891. Review.

6.

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.

Senniappan S, Sadeghizadeh A, Flanagan SE, Ellard S, Hashemipour M, Hosseinzadeh M, Salehi M, Hussain K.

BMC Res Notes. 2015 Aug 13;8:350. doi: 10.1186/s13104-015-1319-1.

7.

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

De Franco E, Flanagan SE, Houghton JA, Lango Allen H, Mackay DJ, Temple IK, Ellard S, Hattersley AT.

Lancet. 2015 Sep 5;386(9997):957-63. doi: 10.1016/S0140-6736(15)60098-8. Epub 2015 Jul 28.

8.

Identification of gene signatures used to recognize biological characteristics of gastric cancer upon gene expression data.

Yan Z, Luke BT, Tsang SX, Xing R, Pan Y, Liu Y, Wang J, Geng T, Li J, Lu Y.

Biomark Insights. 2014 Aug 14;9:67-76. doi: 10.4137/BMI.S13059. eCollection 2014.

9.

Congenital hyperinsulinism: current status and future perspectives.

Yorifuji T.

Ann Pediatr Endocrinol Metab. 2014 Jun;19(2):57-68. doi: 10.6065/apem.2014.19.2.57. Epub 2014 Jun 30. Review.

10.

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul MM, Edge JA, Stewart H, Alamiri E, Hussain K, Wallis S, de Vries L, Rubio-Cabezas O, Houghton JA, Edghill EL, Patch AM, Ellard S, Hattersley AT.

Cell Metab. 2014 Jan 7;19(1):146-54. doi: 10.1016/j.cmet.2013.11.021.

11.

The molecular mechanisms, diagnosis and management of congenital hyperinsulinism.

Senniappan S, Arya VB, Hussain K.

Indian J Endocrinol Metab. 2013 Jan;17(1):19-30. doi: 10.4103/2230-8210.107822.

12.

3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.

Popa FI, Perlini S, Teofoli F, Degani D, Funghini S, La Marca G, Rinaldo P, Vincenzi M, Antoniazzi F, Boner A, Camilot M.

JIMD Rep. 2012;2:71-7. doi: 10.1007/8904_2011_50. Epub 2011 Sep 6.

13.

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A.

J Clin Endocrinol Metab. 2013 Feb;98(2):E355-63. doi: 10.1210/jc.2012-2169. Epub 2012 Dec 28.

14.

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S.

Am J Hum Genet. 2013 Jan 10;92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27.

15.

Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.

Mohamed Z, Arya VB, Hussain K.

J Clin Res Pediatr Endocrinol. 2012 Dec;4(4):169-81. doi: 10.4274/jcrpe.821. Epub 2012 Oct 2. Review.

16.

Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.

Heslegrave AJ, Kapoor RR, Eaton S, Chadefaux B, Akcay T, Simsek E, Flanagan SE, Ellard S, Hussain K.

Orphanet J Rare Dis. 2012 May 14;7:25. doi: 10.1186/1750-1172-7-25.

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