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Results: 1 to 20 of 99

1.

Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas.

Shah RP, Spruyt K, Kragie BC, Greeley SA, Msall ME.

Diabetes Care. 2012 Oct;35(10):2086-8. Epub 2012 Aug 1.

PMID:
22855734
[PubMed - indexed for MEDLINE]
Free PMC Article
2.
3.

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanné-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ.

Eur J Hum Genet. 2006 Jul;14(7):824-30. Epub 2006 May 3.

PMID:
16670688
[PubMed - indexed for MEDLINE]
Free Article
4.

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]
5.

Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome).

Sumnik Z, Kolouskova S, Wales JK, Komarek V, Cinek O.

Diabet Med. 2007 Oct;24(10):1176-8. No abstract available.

PMID:
17888143
[PubMed - indexed for MEDLINE]
6.

Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.

Slingerland AS, Hurkx W, Noordam K, Flanagan SE, Jukema JW, Meiners LC, Bruining GJ, Hattersley AT, Hadders-Algra M.

Diabet Med. 2008 Mar;25(3):277-81. doi: 10.1111/j.1464-5491.2007.02373.x.

PMID:
18307455
[PubMed - indexed for MEDLINE]
7.

DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas.

Itoh S, Matsuoka H, Yasuda Y, Miyake N, Suzuki K, Yorifuji T, Sugihara S.

J Pediatr Endocrinol Metab. 2013;26(1-2):143-6. doi: 10.1515/jpem-2012-0236.

PMID:
23382304
[PubMed - indexed for MEDLINE]
8.

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
9.

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.

Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F.

J Clin Endocrinol Metab. 2008 Mar;93(3):1054-61. Epub 2007 Dec 11.

PMID:
18073297
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT.

Diabetologia. 2006 Jun;49(6):1190-7. Epub 2006 Apr 12.

PMID:
16609879
[PubMed - indexed for MEDLINE]
11.

Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.

Mlynarski W, Tarasov AI, Gach A, Girard CA, Pietrzak I, Zubcevic L, Kusmierek J, Klupa T, Malecki MT, Ashcroft FM.

Nat Clin Pract Neurol. 2007 Nov;3(11):640-5.

PMID:
17982434
[PubMed - indexed for MEDLINE]
12.

Detection of KCNJ11 gene mutations in a family with neonatal diabetes mellitus: implications for therapeutic management of family members with long-standing disease.

Abbasi F, Saba S, Ebrahim-Habibi A, Sayahpour FA, Amiri P, Larijani B, Amoli MM.

Mol Diagn Ther. 2012 Apr 1;16(2):109-14. doi: 10.2165/11599600-000000000-00000.

PMID:
22471336
[PubMed - indexed for MEDLINE]
13.

Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity.

Malecki MT, Skupien J, Klupa T, Wanic K, Mlynarski W, Gach A, Solecka I, Sieradzki J.

Diabetes Care. 2007 Jan;30(1):147-9. No abstract available. Erratum in: Diabetes Care. 2007 Feb;30(2):455.

PMID:
17192350
[PubMed - indexed for MEDLINE]
14.

Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene.

Tonini G, Bizzarri C, Bonfanti R, Vanelli M, Cerutti F, Faleschini E, Meschi F, Prisco F, Ciacco E, Cappa M, Torelli C, Cauvin V, Tumini S, Iafusco D, Barbetti F; Early-Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology.

Diabetologia. 2006 Sep;49(9):2210-3. Epub 2006 Jul 1. No abstract available.

PMID:
16816952
[PubMed - indexed for MEDLINE]
15.

Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene.

Vendramini MF, Gurgel LC, Moisés RS.

Arq Bras Endocrinol Metabol. 2010 Nov;54(8):682-4.

PMID:
21340152
[PubMed - indexed for MEDLINE]
Free Article
16.

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
17.

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]
18.

Transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a KCNJ11 R201H mutation.

Xiao X, Wang T, Li W, Song H, Gong C, Diao C, Yu M, Yuan T, Zhang Y, Sun X, Zhang Q, Lu K, Wang H, Schmitz O, Hansen T.

Horm Metab Res. 2009 Jul;41(7):580-2. doi: 10.1055/s-0029-1192020. Epub 2009 Feb 26. No abstract available.

PMID:
19247925
[PubMed - indexed for MEDLINE]
19.

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
20.

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]

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