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Items: 1 to 20 of 140

1.
2.

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
3.

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
4.

[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
5.

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.

6.

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.

7.

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.

8.

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
9.

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.

10.

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.

11.

Clinical and genetic characterization of congenital hyperinsulinism in Spain.

Martínez R, Fernández-Ramos C, Vela A, Velayos T, Aguayo A, Urrutia I, Rica I, Castaño L; Spanish Congenital Hyperinsulinism Group.

Eur J Endocrinol. 2016 Jun;174(6):717-26. doi: 10.1530/EJE-16-0027.

12.

Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.

Gong C, Huang S, Su C, Qi Z, Liu F, Wu D, Cao B, Gu Y, Li W, Liang X, Liu M.

Pediatr Diabetes. 2016 May;17(3):227-34. doi: 10.1111/pedi.12254. Epub 2015 Feb 2.

PMID:
25639667
13.

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.

14.

ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures.

Darendeliler F, Fournet JC, Baş F, Junien C, Gross MS, Bundak R, Saka N, Günöz H.

J Pediatr Endocrinol Metab. 2002 Jul-Aug;15(7):993-1000.

PMID:
12199344
15.

Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene.

Ince DA, Sahin NM, Ecevit A, Kurt A, Kinik ST, Flanagan SE, Hussain K, Tarcan A.

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1253-5. doi: 10.1515/jpem-2014-0072.

PMID:
24945427
16.

A compound heterozygous mutation of ABCC8 gene causing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by ¹⁸F-DOPA-PET/CT scan.

Zhang W, Liu L, Wen Z, Cheng J, Li C, Li X, Niu H, Wang F, Sheng H, Liu H.

Gene. 2015 Nov 10;572(2):222-6. doi: 10.1016/j.gene.2015.07.012. Epub 2015 Jul 8.

PMID:
26162674
17.

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.

18.

Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.

Jahnavi S, Poovazhagi V, Kanthimathi S, Balamurugan K, Bodhini D, Yadav J, Jain V, Khadgawat R, Sikdar M, Bhavatharini A, Das AK, Kaur T, Mohan V, Radha V.

Ann Hum Genet. 2014 Sep;78(5):311-9. doi: 10.1111/ahg.12070.

19.

Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.

Nessa A, Aziz QH, Thomas AM, Harmer SC, Tinker A, Hussain K.

Hum Mol Genet. 2015 Sep 15;24(18):5142-53. doi: 10.1093/hmg/ddv233. Epub 2015 Jun 19.

PMID:
26092864
20.

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.

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