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Items: 1 to 20 of 147

1.

Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.

Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, Unal S, Tekkes S, Flanagan SE, Ellard S, Hussain K.

Eur J Endocrinol. 2014 Jun;170(6):885-92. doi: 10.1530/EJE-14-0045. Epub 2014 Mar 31.

2.

Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.

Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW.

Eur J Endocrinol. 2011 Jun;164(6):919-26. doi: 10.1530/EJE-11-0160. Epub 2011 Mar 21. Erratum in: Eur J Endocrinol. 2011 Sep;165(3):485-6.

3.

Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell.

Oçal G, Flanagan SE, Hacihamdioğlu B, Berberoğlu M, Siklar Z, Ellard S, Savas Erdeve S, Okulu E, Akin IM, Atasay B, Arsan S, Yağmurlu A.

J Pediatr Endocrinol Metab. 2011;24(11-12):1019-23.

PMID:
22308858
4.

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K.

Eur J Endocrinol. 2013 Mar 15;168(4):557-64. doi: 10.1530/EJE-12-0673. Print 2013 Apr.

5.

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.

Arya VB, Guemes M, Nessa A, Alam S, Shah P, Gilbert C, Senniappan S, Flanagan SE, Ellard S, Hussain K.

Eur J Endocrinol. 2014 Dec;171(6):685-95. doi: 10.1530/EJE-14-0353. Epub 2014 Sep 8.

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.

Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.

Saint-Martin C, Zhou Q, Martin GM, Vaury C, Leroy G, Arnoux JB, de Lonlay P, Shyng SL, Bellanné-Chantelot C.

Clin Genet. 2015 May;87(5):448-54. doi: 10.1111/cge.12428. Epub 2014 Jun 6.

8.

Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.

Sang Y, Xu Z, Liu M, Yan J, Wu Y, Zhu C, Ni G.

Endocr J. 2014;61(9):901-10. Epub 2014 Jul 8.

9.

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA.

J Clin Invest. 2008 Aug;118(8):2877-86. doi: 10.1172/JCI35414.

10.

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.

Rozenkova K, Malikova J, Nessa A, Dusatkova L, Bjørkhaug L, Obermannova B, Dusatkova P, Kytnarova J, Aukrust I, Najmi LA, Rypackova B, Sumnik Z, Lebl J, Njølstad PR, Hussain K, Pruhova S.

J Clin Endocrinol Metab. 2015 Dec;100(12):E1540-9. doi: 10.1210/jc.2015-2763. Epub 2015 Oct 2.

PMID:
26431509
11.

Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinism.

Jindal R, Ahmad A, Siddiqui MA, Kochar IS, Wangnoo SK.

Diabetes Metab Syndr. 2014 Jan-Mar;8(1):45-7. doi: 10.1016/j.dsx.2013.02.018. Epub 2013 Mar 26.

PMID:
24661758
12.

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.

13.
14.

Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1.

Macmullen CM, Zhou Q, Snider KE, Tewson PH, Becker SA, Aziz AR, Ganguly A, Shyng SL, Stanley CA.

Diabetes. 2011 Jun;60(6):1797-804. doi: 10.2337/db10-1631. Epub 2011 May 2. Erratum in: Diabetes. 2011 Nov;60(11):3097.

15.

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.

Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S.

Clin Genet. 2011 Jun;79(6):582-7. doi: 10.1111/j.1399-0004.2010.01476.x.

16.

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.

Eur J Endocrinol. 2011 May;164(5):733-40. doi: 10.1530/EJE-10-1136. Epub 2011 Mar 4.

17.

A novel mutation in ABCC8 gene in a newborn with congenital hyperinsulinism -a case report.

Üstün NU, Dilli D, Kundak AA, Okumus N, Erdoğan D, Apaydın S.

Fetal Pediatr Pathol. 2013 Dec;32(6):412-7. doi: 10.3109/15513815.2013.789947. Epub 2013 Apr 22.

PMID:
23607867
18.

[ABCC8, KCNJ11 and GLUD1 gene mutation analysis in congenital hyperinsulinism pedigree].

Xu ZD, Yu HF, Sang YM, Zhang YN, Yan J, Wu YJ, Zhu C, Ni GC.

Zhonghua Yi Xue Za Zhi. 2013 Apr 9;93(14):1089-92. Chinese.

PMID:
23902843
19.

Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.

Flanagan S, Damhuis A, Banerjee I, Rokicki D, Jefferies C, Kapoor R, Hussain K, Ellard S.

Pediatr Diabetes. 2012 May;13(3):285-9. doi: 10.1111/j.1399-5448.2011.00821.x. Epub 2011 Oct 7.

PMID:
21978130
20.

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.

Maiorana A, Barbetti F, Boiani A, Rufini V, Pizzoferro M, Francalanci P, Faletra F, Nichols CG, Grimaldi C, de Ville de Goyet J, Rahier J, Henquin JC, Dionisi-Vici C.

Clin Endocrinol (Oxf). 2014 Nov;81(5):679-88. doi: 10.1111/cen.12400. Epub 2014 Jan 30.

PMID:
24383515
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