441 related articles for article (PubMed ID: 15580558)
1. 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;
Hum Mutat; 2005 Jan; 25(1):22-7. PubMed ID: 15580558
[TBL] [Abstract][Full Text] [Related]
2. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.
Rica I; Luzuriaga C; Pérez de Nanclares G; Estalella I; Aragonés A; Barrio R; Bilbao JR; Carlés C; Fernández C; Fernández JM; Fernández-Rebollo E; Gastaldo E; Giralt P; Gomez Vida JM; Gutiérrez A; López Siguero JP; Martínez-Aedo MJ; Muñoz M; Prieto J; Rodrigo J; Vargas F; Castano L
Diabet Med; 2007 Jul; 24(7):707-13. PubMed ID: 17490422
[TBL] [Abstract][Full Text] [Related]
3. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
Gloyn AL; Pearson ER; Antcliff JF; Proks P; Bruining GJ; Slingerland AS; Howard N; Srinivasan S; Silva JM; Molnes J; Edghill EL; Frayling TM; Temple IK; Mackay D; Shield JP; Sumnik Z; van Rhijn A; Wales JK; Clark P; Gorman S; Aisenberg J; Ellard S; Njølstad PR; Ashcroft FM; Hattersley AT
N Engl J Med; 2004 Apr; 350(18):1838-49. PubMed ID: 15115830
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16670688
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 17296510
[TBL] [Abstract][Full Text] [Related]
6. Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
Shimomura K; Girard CA; Proks P; Nazim J; Lippiat JD; Cerutti F; Lorini R; Ellard S; Hattersley AT; Barbetti F; Ashcroft FM
Diabetes; 2006 Jun; 55(6):1705-12. PubMed ID: 16731833
[TBL] [Abstract][Full Text] [Related]
7. Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation.
D'Amato E; Tammaro P; Craig TJ; Tosi A; Giorgetti R; Lorini R; Ashcroft FM
Diabet Med; 2008 Jun; 25(6):651-6. PubMed ID: 18544102
[TBL] [Abstract][Full Text] [Related]
8. [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; 132(3-4):90-3. PubMed ID: 20540435
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 18221420
[TBL] [Abstract][Full Text] [Related]
10. KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.
Ioannou YS; Ellard S; Hattersley A; Skordis N
Pediatr Diabetes; 2011 Mar; 12(2):133-7. PubMed ID: 21352428
[TBL] [Abstract][Full Text] [Related]
11. 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; 69(13):1342-9. PubMed ID: 17652641
[TBL] [Abstract][Full Text] [Related]
12. Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.
Biagiotti L; Proverbio MC; Bosio L; Gervasi F; Rovida E; Cerioni V; Bove M; Valin PS; Albarello L; Zamproni I; Grassi S; Doglioni C; Mora S; Chiumello G; Biunno I
Exp Mol Pathol; 2007 Aug; 83(1):59-64. PubMed ID: 17316607
[TBL] [Abstract][Full Text] [Related]
13. Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
Proks P; Girard C; Baevre H; Njølstad PR; Ashcroft FM
Diabetes; 2006 Jun; 55(6):1731-7. PubMed ID: 16731836
[TBL] [Abstract][Full Text] [Related]
14. [Diabetes in infants may be treated with sulfonylurea as a replacement for insulin].
Lauridsen MH; Boesgaard TW; Pedersen OB; Hansen T; Hertz B
Ugeskr Laeger; 2009 Jun; 171(23):1923-4. PubMed ID: 19500515
[TBL] [Abstract][Full Text] [Related]
15. [Glycemic index of meals and postprandial glycemia in patients with permanent neonatal diabetes due to Kir6.2 gene mutations].
Klupa T; Małecki M; Skupień J; Szalecki M; Jałowiec I; Surdej B; Myśliwiec M; Sieradzki J
Przegl Lek; 2007; 64(6):398-400. PubMed ID: 18159846
[TBL] [Abstract][Full Text] [Related]
16. Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
Gloyn AL
Hum Mutat; 2003 Nov; 22(5):353-62. PubMed ID: 14517946
[TBL] [Abstract][Full Text] [Related]
17. Neonatal diabetes mellitus: description of two Puerto Rican children with KCNJ11 activating gene mutation.
Nieves-Rivera F; González-Pijem L
P R Health Sci J; 2011 Jun; 30(2):87-9. PubMed ID: 21682153
[TBL] [Abstract][Full Text] [Related]
18. Clinical profile and etiology of diabetes mellitus with onset at less than 6 months of age.
Valamparampil JJ; Chirakkarot S; Savida P; Omana S
Kaohsiung J Med Sci; 2009 Dec; 25(12):656-62. PubMed ID: 19951851
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 19686306
[TBL] [Abstract][Full Text] [Related]
20. Identification of mutations in the Kir6.2 subunit of the K(ATP) channel.
Flanagan SE; Ellard S
Methods Mol Biol; 2008; 491():235-45. PubMed ID: 18998097
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
