Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 18

1.

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G, Carmody D, Cheng YW, Nelakuditi V, Ma L, Dickens JT, Das S, Greeley SA, del Gaudio D.

Mol Genet Metab. 2014 Dec;113(4):315-20. doi: 10.1016/j.ymgme.2014.09.007. Epub 2014 Sep 28.

2.

A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.

Chang WL, Huang CJ, Lei TH, Niu DM, Chiu CY, Jap TS.

Diabetes Res Clin Pract. 2014 Apr;104(1):e29-32. doi: 10.1016/j.diabres.2013.12.058. Epub 2014 Jan 8.

PMID:
24468099
3.

EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott-Rallison syndrome.

Jahnavi S, Poovazhagi V, Kanthimathi S, Gayathri V, Mohan V, Radha V.

Pediatr Diabetes. 2014 Jun;15(4):313-8. doi: 10.1111/pedi.12089. Epub 2013 Oct 30.

PMID:
24168455
4.

Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking.

McTaggart JS, Jenkinson N, Brittain JS, Greeley SA, Hattersley AT, Ashcroft FM.

PLoS One. 2013 Apr 23;8(4):e62646. doi: 10.1371/journal.pone.0062646. Print 2013.

5.

Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans.

Habeb AM, Flanagan SE, Deeb A, Al-Alwan I, Alawneh H, Balafrej AA, Mutair A, Hattersley AT, Hussain K, Ellard S.

Arch Dis Child. 2012 Aug;97(8):721-3. doi: 10.1136/archdischild-2012-301744.

PMID:
22859427
6.

Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes.

Fraser CS, Rubio-Cabezas O, Littlechild JA, Ellard S, Hattersley AT, Flanagan SE.

Eur J Endocrinol. 2012 Sep;167(3):417-21. doi: 10.1530/EJE-12-0227. Epub 2012 May 30.

7.

Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome.

Reis AF, Kannengiesser C, Jennane F, Manna TD, Cheurfa N, Oudin C, Savoldelli RD, Oliveira C, Grandchamp B, Kok F, Velho G.

Pediatr Diabetes. 2011 May;12(3 Pt 1):187-91. doi: 10.1111/j.1399-5448.2010.00679.x. Epub 2010 Sep 7.

PMID:
21518408
8.

The first case report of sulfonylurea use in a woman with permanent neonatal diabetes mellitus due to KCNJ11 mutation during a high-risk pregnancy.

Klupa T, Kozek E, Nowak N, Cyganek K, Gach A, Milewicz T, Czajkowski K, Tolloczko J, Mlynarski W, Malecki MT.

J Clin Endocrinol Metab. 2010 Aug;95(8):3599-604. doi: 10.1210/jc.2010-0096. Epub 2010 May 13.

PMID:
20466780
9.

Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34-month median follow-up.

Klupa T, Skupien J, Mirkiewicz-Sieradzka B, Gach A, Noczynska A, Zubkiewicz-Kucharska A, Szalecki M, Kozek E, Nazim J, Mlynarski W, Malecki MT.

Diabetes Technol Ther. 2010 May;12(5):387-91. doi: 10.1089/dia.2009.0165.

PMID:
20184447
10.

Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.

Della Manna T, Battistim C, Radonsky V, Savoldelli RD, Damiani D, Kok F, Pearson ER, Ellard S, Hattersley AT, Reis AF.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1350-5.

11.

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

Colombo C, Porzio O, Liu M, Massa O, Vasta M, Salardi S, Beccaria L, Monciotti C, Toni S, Pedersen O, Hansen T, Federici L, Pesavento R, Cadario F, Federici G, Ghirri P, Arvan P, Iafusco D, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (SIEDP)..

J Clin Invest. 2008 Jun;118(6):2148-56. doi: 10.1172/JCI33777.

12.

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.

Tammaro P, Flanagan SE, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley AT, Ellard S, Ashcroft FM.

Diabetologia. 2008 May;51(5):802-10. doi: 10.1007/s00125-008-0923-1. Epub 2008 Mar 12.

13.
14.

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F.

Diabetes. 2007 Feb;56(2):328-36.

15.

Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder - a new syndrome?

Goksen D, Darcan S, Coker M, Aksu G, Yildiz B, Kara S, Kültürsay N.

Pediatr Diabetes. 2006 Oct;7(5):279-83.

PMID:
17054450
16.

Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.

Haider S, Antcliff JF, Proks P, Sansom MS, Ashcroft FM.

J Mol Cell Cardiol. 2005 Jun;38(6):927-36. Review.

PMID:
15910877
17.

Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

Zung A, Glaser B, Nimri R, Zadik Z.

J Clin Endocrinol Metab. 2004 Nov;89(11):5504-7.

PMID:
15531505
18.

Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman.

Bappal B, Raghupathy P, de Silva V, Khusaiby SM.

Arch Dis Child Fetal Neonatal Ed. 1999 May;80(3):F209-12.

Supplemental Content

Loading ...
Support Center