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Items: 1 to 20 of 85

1.

A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.

Papadimitriou DT, Willems PJ, Bothou C, Karpathios T, Papadimitriou A.

Diabetes Metab. 2015 Sep;41(4):342-3. doi: 10.1016/j.diabet.2015.03.009. Epub 2015 Apr 25. No abstract available.

PMID:
25921421
2.

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. doi: 10.1111/dme.13844.

PMID:
30362177
3.

Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.

Guazzini B, Gaffi D, Mainieri D, Multari G, Cordera R, Bertolini S, Pozza G, Meschi F, Barbetti F.

Hum Mutat. 1998;12(2):136.

PMID:
10694920
4.

Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia.

Matyka KA, Beards F, Appleton M, Ellard S, Hattersley A, Dunger DB.

Arch Dis Child. 1998 Jun;78(6):552-4.

5.

[Novel glucokinase mutation in a boy with maturity-onset diabetes of the young].

Milenković T, Zdravković D, Mitrović K.

Srp Arh Celok Lek. 2008 Sep-Oct;136(9-10):542-4. Serbian.

6.

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC, Chakraborty C, Haneef SA, Nagasundaram N, Chen L, Zhu H.

Theranostics. 2014 Jan 29;4(4):366-85. doi: 10.7150/thno.7473. eCollection 2014.

7.

[Glucokinase gene abnormalities in maturity-onset diabetes of the young (MODY) and late-onset NIDDM].

Odawara M.

Nihon Rinsho. 1994 Oct;52(10):2580-6. Review. Japanese.

PMID:
7983782
8.

Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.

Stoffel M, Patel P, Lo YM, Hattersley AT, Lucassen AM, Page R, Bell JI, Bell GI, Turner RC, Wainscoat JS.

Nat Genet. 1992 Oct;2(2):153-6.

PMID:
1303265
9.

Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.

Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, Passa P, et al.

N Engl J Med. 1993 Mar 11;328(10):697-702.

10.

A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young.

Njølstad PR, Cockburn BN, Bell GI, Søvik O.

Acta Paediatr. 1998 Aug;87(8):853-6.

PMID:
9736233
11.

Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

Velho G, Blanché H, Vaxillaire M, Bellanné-Chantelot C, Pardini VC, Timsit J, Passa P, Deschamps I, Robert JJ, Weber IT, Marotta D, Pilkis SJ, Lipkind GM, Bell GI, Froguel P.

Diabetologia. 1997 Feb;40(2):217-24.

PMID:
9049484
12.

Onset of type 1 diabetes mellitus in two patients with maturity onset diabetes of the young.

Maltoni G, Zucchini S, Scipione M, Mantovani V, Salardi S, Cicognani A.

Pediatr Diabetes. 2012 Mar;13(2):208-12. doi: 10.1111/j.1399-5448.2011.00788.x. Epub 2011 Jun 23.

PMID:
21696527
13.

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LI, Beards F, Hattersley AT, Ellard S.

Hum Mutat. 2003 Nov;22(5):417.

PMID:
14517956
14.

Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

Estalella I, Garcia-Gimeno MA, Marina A, Castaño L, Sanz P.

J Hum Genet. 2008;53(5):460-6. doi: 10.1007/s10038-008-0271-5. Epub 2008 Mar 6.

15.

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
16.

Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.

Costantini S, Malerba G, Contreas G, Corradi M, Marin Vargas SP, Giorgetti A, Maffeis C.

Clin Genet. 2015 May;87(5):440-7. doi: 10.1111/cge.12406. Epub 2014 Jun 6.

PMID:
24735133
17.

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. doi: 10.1111/j.1399-5448.2010.00683.x. Epub 2010 Sep 6.

PMID:
21518409
18.

Characterization of glucokinase polymorphisms associated with maturity-onset diabetes of the young (MODY2) in Jordanian population.

Al-Sheyab F, Khamaiseh E, Halaweh MA, Khaul RW.

Tsitol Genet. 2009 Sep-Oct;43(5):58-63.

PMID:
20458967
19.

Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.

Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, Lesage S, Velho G, Iris F, Passa P, et al.

Nature. 1992 Apr 23;356(6371):721-2.

PMID:
1570017
20.

Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment.

Schnyder S, Mullis PE, Ellard S, Hattersley AT, Flück CE.

Swiss Med Wkly. 2005 Jun 11;135(23-24):352-6.

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