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Results: 1 to 20 of 23

1.

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
2.

Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study.

Kanakatti Shankar R, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, Ellard S, Gilliam LK; SEARCH for Diabetes in Youth Study Group.

Pediatr Diabetes. 2013 May;14(3):174-80. doi: 10.1111/pedi.12003. Epub 2012 Oct 10.

3.

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
4.

Permanent neonatal diabetes mellitus: same mutation, different glycemic control with sulfonylurea therapy on long-term follow-up.

Aydin BK, Bundak R, Baş F, Maraş H, Saka N, Günöz H, Darendeliler F.

J Clin Res Pediatr Endocrinol. 2012 Jun;4(2):107-10. doi: 10.4274/jcrpe.524.

5.

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
6.

The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.

Gozlan Y, Tenenbaum A, Shalitin S, Lebenthal Y, Oron T, Cohen O, Phillip M, Gat-Yablonski G.

Pediatr Diabetes. 2012 Sep;13(6):e14-21. doi: 10.1111/j.1399-5448.2011.00822.x. Epub 2011 Oct 7.

PMID:
21978167
7.

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
8.

Permanent diabetes during the first year of life: multiple gene screening in 54 patients.

Russo L, Iafusco D, Brescianini S, Nocerino V, Bizzarri C, Toni S, Cerutti F, Monciotti C, Pesavento R, Iughetti L, Bernardini L, Bonfanti R, Gargantini L, Vanelli M, Aguilar-Bryan L, Stazi MA, Grasso V, Colombo C, Barbetti F; ISPED Early Diabetes Study Group.

Diabetologia. 2011 Jul;54(7):1693-701. doi: 10.1007/s00125-011-2094-8. Epub 2011 Mar 10.

9.

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
10.

In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.

Rajan S, Eames SC, Park SY, Labno C, Bell GI, Prince VE, Philipson LH.

Am J Physiol Endocrinol Metab. 2010 Mar;298(3):E403-10. doi: 10.1152/ajpendo.00592.2009. Epub 2009 Dec 1.

11.

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.

J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. doi: 10.1210/jc.2009-1137. Epub 2009 Oct 16. Erratum in: J Clin Endocrinol Metab. 2010 Mar;95(3):1480. Tukkahrman, Doga [corrected to Turkkahraman, Doga].

12.

Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.

Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ, Steichen E, Meraner D, Zimmerhackl LB, Hattersley AT, Ellard S, Hofer S.

Pediatr Diabetes. 2010 Feb;11(1):18-23. doi: 10.1111/j.1399-5448.2009.00530.x. Epub 2009 Jun 3.

PMID:
19496964
13.

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
14.

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
15.

Diagnosis and treatment of neonatal diabetes: a United States experience.

Støy J, Greeley SA, Paz VP, Ye H, Pastore AN, Skowron KB, Lipton RB, Cogen FR, Bell GI, Philipson LH; United States Neonatal Diabetes Working Group.

Pediatr Diabetes. 2008 Oct;9(5):450-9. doi: 10.1111/j.1399-5448.2008.00433.x. Epub 2008 Jul 25.

16.

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.

17.

Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.

Feigerlová E, Pruhová S, Dittertová L, Lebl J, Pinterová D, Kolostová K, Cerná M, Pedersen O, Hansen T.

Eur J Pediatr. 2006 Jul;165(7):446-52. Epub 2006 Apr 7.

PMID:
16602010
18.

Pancreatic agenesis as cause for neonatal diabetes mellitus.

Baumeister FA, Engelsberger I, Schulze A.

Klin Padiatr. 2005 Mar-Apr;217(2):76-81. Review.

PMID:
15770578
19.

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
20.

Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases.

Metz C, Cavé H, Bertrand AM, Deffert C, Gueguen-Giroux B, Czernichow P, Polak M; NDM French Study Group. Neonatal diabetes mellitus.

J Pediatr. 2002 Oct;141(4):483-9.

PMID:
12378186
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