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Results: 1 to 20 of 178

1.

Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.

Dupont J, Pereira C, Medeira A, Duarte R, Ellard S, Sampaio L.

J Pediatr Endocrinol Metab. 2012;25(3-4):367-70.

PMID:
22768671
[PubMed - indexed for MEDLINE]
2.

Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM.

Mohamadi A, Clark LM, Lipkin PH, Mahone EM, Wodka EL, Plotnick LP.

Pediatr Diabetes. 2010 May;11(3):203-7. doi: 10.1111/j.1399-5448.2009.00548.x. Epub 2009 Jul 21.

PMID:
19686306
[PubMed - indexed for MEDLINE]
3.
4.

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.

PMID:
19169493
[PubMed - indexed for MEDLINE]
Free Article
5.

Improved long-term glucose control in neonatal diabetes mellitus after early sulfonylurea allergy.

Shah B, Breidbart E, Pawelczak M, Lam L, Kessler M, Franklin B.

J Pediatr Endocrinol Metab. 2012;25(3-4):353-6.

PMID:
22768668
[PubMed - indexed for MEDLINE]
6.

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group.

N Engl J Med. 2006 Aug 3;355(5):467-77.

PMID:
16885550
[PubMed - indexed for MEDLINE]
Free Article
7.

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F.

Neurology. 2007 Sep 25;69(13):1342-9. Epub 2007 Jul 25.

PMID:
17652641
[PubMed - indexed for MEDLINE]
8.

Successful sulfonylurea treatment of an insulin-naïve neonate with diabetes mellitus due to a KCNJ11 mutation.

Wambach JA, Marshall BA, Koster JC, White NH, Nichols CG.

Pediatr Diabetes. 2010 Jun;11(4):286-8. doi: 10.1111/j.1399-5448.2009.00557.x. Epub 2009 Jul 29.

PMID:
19656320
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.

Flechtner I, de Lonlay P, Polak M.

Diabetes Metab. 2006 Dec;32(6):569-80. Review.

PMID:
17296510
[PubMed - indexed for MEDLINE]
Free Article
10.

Familial permanent neonatal diabetes with KCNJ11 mutation and the response to glyburide therapy--a three-year follow-up.

Begum-Hasan J, Polychronakos C, Brill H.

J Pediatr Endocrinol Metab. 2008 Sep;21(9):895-903.

PMID:
18924582
[PubMed - indexed for MEDLINE]
11.

Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene.

Al-Mahdi M, Al Mutair A, Al Balwi M, Hussain K.

Ann Saudi Med. 2010 Mar-Apr;30(2):162-4. doi: 10.4103/0256-4947.60526. Erratum in: Ann Saudi Med. 2010 May-Jun;30(3):242.

PMID:
20220270
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.

Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM.

Proc Natl Acad Sci U S A. 2004 Dec 14;101(50):17539-44. Epub 2004 Dec 6.

PMID:
15583126
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

[Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2].

Ille J, Putarek NR, Radica A, Hattersley A, Ellard S, Dumić M.

Lijec Vjesn. 2010 Mar-Apr;132(3-4):90-3. Croatian.

PMID:
20540435
[PubMed - indexed for MEDLINE]
14.

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crinó A, Lorini R, Cerutti F, Vanelli M, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Hum Mutat. 2005 Jan;25(1):22-7.

PMID:
15580558
[PubMed - indexed for MEDLINE]
15.

Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide.

Bremer AA, Ranadive S, Lustig RH.

Pediatr Diabetes. 2008 Jun;9(3 Pt 1):236-9. doi: 10.1111/j.1399-5448.2007.00316.x. Epub 2008 Jan 24.

PMID:
18221420
[PubMed - indexed for MEDLINE]
16.

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I.

J Clin Endocrinol Metab. 2007 Apr;92(4):1276-82. Epub 2007 Jan 9.

PMID:
17213273
[PubMed - indexed for MEDLINE]
17.

Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea.

Russo C, Salina A, Aloi C, Iafusco D, Lorini R, d'Annunzio G.

Diabetes Res Clin Pract. 2011 Nov;94(2):e50-2. doi: 10.1016/j.diabres.2011.07.039. Epub 2011 Aug 25.

PMID:
21871684
[PubMed - indexed for MEDLINE]
18.

AV59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child.

Sang Y, Ni G, Gu Y, Liu M.

J Pediatr Endocrinol Metab. 2011;24(9-10):763-6.

PMID:
22145471
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
17259376
[PubMed - indexed for MEDLINE]
Free Article
20.

Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation.

Battaglia D, Lin YW, Brogna C, Crinò A, Grasso V, Mozzi AF, Russo L, Spera S, Colombo C, Ricci S, Nichols CG, Mercuri E, Barbetti F.

Pediatr Diabetes. 2012 Dec;13(8):656-60. doi: 10.1111/j.1399-5448.2012.00874.x. Epub 2012 Jun 14.

PMID:
22694282
[PubMed - indexed for MEDLINE]
Free PMC Article

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