120 related articles for article (PubMed ID: 33414663)
1. A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs*12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus.
Bolu S; Eröz R; Doğan M; Arslanoğlu İ; Uzun H; Timur F
Turk Pediatri Ars; 2020; 55(4):434-437. PubMed ID: 33414663
[TBL] [Abstract][Full Text] [Related]
2. A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins.
Esquiaveto-Aun AM; De Mello MP; Paulino MF; Minicucci WJ; Guerra-Júnior G; De Lemos-Marini SH
Diabetol Metab Syndr; 2015; 7():101. PubMed ID: 26587058
[TBL] [Abstract][Full Text] [Related]
3. Variable presentations of
Oza CM; Karguppikar MB; Khadilkar V; Khadilkar A
BMJ Case Rep; 2022 Feb; 15(2):. PubMed ID: 35228227
[TBL] [Abstract][Full Text] [Related]
4. Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene.
Rubio-Cabezas O; Díaz González F; Aragonés A; Argente J; Campos-Barros A
Pediatr Diabetes; 2008 Jun; 9(3 Pt 1):245-9. PubMed ID: 18298419
[TBL] [Abstract][Full Text] [Related]
5. Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase gene.
Filibeli BE; Çatli G; Ayranci İ; Manyas H; Kirbiyik Ö; Dündar B
Hormones (Athens); 2022 Mar; 21(1):163-169. PubMed ID: 34697762
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Osbak KK; Colclough K; Saint-Martin C; Beer NL; Bellanné-Chantelot C; Ellard S; Gloyn AL
Hum Mutat; 2009 Nov; 30(11):1512-26. PubMed ID: 19790256
[TBL] [Abstract][Full Text] [Related]
8. [Glucokinase gene mutation as a causative factor of permanent neonatal diabetes mellitus].
Wajda-Cuszlag M; Witkowski D; Piontek E; Wysocka-Mincewicz M; Borowiec M; Młynarski W; Szalecki M
Pediatr Endocrinol Diabetes Metab; 2012; 18(1):45-7. PubMed ID: 22525692
[TBL] [Abstract][Full Text] [Related]
9. Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene.
Bennett K; James C; Mutair A; Al-Shaikh H; Sinani A; Hussain K
Pediatr Diabetes; 2011 May; 12(3 Pt 1):192-6. PubMed ID: 21518409
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 21978167
[TBL] [Abstract][Full Text] [Related]
11. Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report.
Stanik J; Kusekova M; Huckova M; Valentinova L; Masindova I; Stanikova D; Ferenczova J; Gasperikova D; Klimes I
Endocr Regul; 2012 Apr; 46(2):99-105. PubMed ID: 22540858
[TBL] [Abstract][Full Text] [Related]
12. Caudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy.
Taylor RAM; Mackie A; Mogra R; Pinner J; Rajendran S; Ross GP
Diabet Med; 2019 Feb; 36(2):252-255. PubMed ID: 30362177
[TBL] [Abstract][Full Text] [Related]
13. Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY).
Li X; Ting TH; Sheng H; Liang CL; Shao Y; Jiang M; Xu A; Lin Y; Liu L
BMC Pediatr; 2018 Mar; 18(1):101. PubMed ID: 29510678
[TBL] [Abstract][Full Text] [Related]
14. Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation.
Chakera AJ; Steele AM; Gloyn AL; Shepherd MH; Shields B; Ellard S; Hattersley AT
Diabetes Care; 2015 Jul; 38(7):1383-92. PubMed ID: 26106223
[TBL] [Abstract][Full Text] [Related]
15. TWO OPPOSITE PHENOTYPES OF GLUCOSE DISORDERS IN A FAMILY WITH HETEROZYGOUS P.SER453LEU (C.1358C> T) MUTATION IN THE GLUCOKINASE (GCK) GENE: MATURITY ONSET DIABETES IN YOUNG AND INSULINOMA.
Demiral M; Çelebi HBG; Cander S; Yerci O; Eren E; Demirbilek H
Acta Endocrinol (Buchar); 2022; 18(4):458-465. PubMed ID: 37152879
[TBL] [Abstract][Full Text] [Related]
16. Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.
Hussain K
Rev Endocr Metab Disord; 2010 Sep; 11(3):179-83. PubMed ID: 20878480
[TBL] [Abstract][Full Text] [Related]
17. Diagnosis and management of glucokinase monogenic diabetes in pregnancy: current perspectives.
Rudland VL
Diabetes Metab Syndr Obes; 2019; 12():1081-1089. PubMed ID: 31372018
[TBL] [Abstract][Full Text] [Related]
18. Glucokinase mutations in pediatric patients with impaired fasting glucose.
Aloi C; Salina A; Minuto N; Tallone R; Lugani F; Mascagni A; Mazza O; Cassanello M; Maghnie M; d'Annunzio G
Acta Diabetol; 2017 Oct; 54(10):913-923. PubMed ID: 28726111
[TBL] [Abstract][Full Text] [Related]
19. Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.
Njølstad PR; Sagen JV; Bjørkhaug L; Odili S; Shehadeh N; Bakry D; Sarici SU; Alpay F; Molnes J; Molven A; Søvik O; Matschinsky FM
Diabetes; 2003 Nov; 52(11):2854-60. PubMed ID: 14578306
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Raimondo A; Chakera AJ; Thomsen SK; Colclough K; Barrett A; De Franco E; Chatelas A; Demirbilek H; Akcay T; Alawneh H; ; Flanagan SE; Van De Bunt M; Hattersley AT; Gloyn AL; Ellard S;
Hum Mol Genet; 2014 Dec; 23(24):6432-40. PubMed ID: 25015100
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
