-
1
-
-
0035960122
-
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.
-
Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 2001: 345: 971-980.
-
(2001)
N Engl J Med
, vol.345
, pp. 971-980
-
-
Fajans, S.S.1
Bell, G.I.2
Polonsky, K.S.3
-
2
-
-
0031914679
-
Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.
-
Hattersley AT. Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. Diabet Med 1998: 15: 15-24.
-
(1998)
Diabet Med
, vol.15
, pp. 15-24
-
-
Hattersley, A.T.1
-
3
-
-
1642430590
-
Neonatal and very-early-onset diabetes mellitus.
-
Polak M, Shield J. Neonatal and very-early-onset diabetes mellitus. Semin Neonatol 2004: 9: 59-65.
-
(2004)
Semin Neonatol
, vol.9
, pp. 59-65
-
-
Polak, M.1
Shield, J.2
-
4
-
-
0027472126
-
Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.
-
Froguel P, Zouali H, Vionnet N et al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med 1993: 328: 697-702.
-
(1993)
N Engl J Med
, vol.328
, pp. 697-702
-
-
Froguel, P.1
Zouali, H.2
Vionnet, N.3
-
5
-
-
0022538272
-
Tissue-specific expression of glucokinase: identification of the gene product in liver and pancreatic islets.
-
Iynedjian PB, Mobius G, Seitz HJ, Wollheim CB, Renold AE. Tissue-specific expression of glucokinase: identification of the gene product in liver and pancreatic islets. Proc Natl Acad Sci U S A 1986: 83: 1998-2001.
-
(1986)
Proc Natl Acad Sci U S A
, vol.83
, pp. 1998-2001
-
-
Iynedjian, P.B.1
Mobius, G.2
Seitz, H.J.3
Wollheim, C.B.4
Renold, A.E.5
-
6
-
-
0344837809
-
A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity.
-
Frayling TM, Lindgren CM, Chevre JC et al. A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity. Diabetes 2003: 52: 872-881.
-
(2003)
Diabetes
, vol.52
, pp. 872-881
-
-
Frayling, T.M.1
Lindgren, C.M.2
Chevre, J.C.3
-
7
-
-
0037464795
-
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.
-
Huopio H, Otonkoski T, Vauhkonen I, Reimann F, Ashcroft FM, Laakso M. A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. Lancet 2003: 361: 301-307.
-
(2003)
Lancet
, vol.361
, pp. 301-307
-
-
Huopio, H.1
Otonkoski, T.2
Vauhkonen, I.3
Reimann, F.4
Ashcroft, F.M.5
Laakso, M.6
-
8
-
-
2342633204
-
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
-
Gloyn AL, Pearson ER, Antcliff JF et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004: 350: 1838-1849.
-
(2004)
N Engl J Med
, vol.350
, pp. 1838-1849
-
-
Gloyn, A.L.1
Pearson, E.R.2
Antcliff, J.F.3
-
9
-
-
4644260056
-
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
-
Sagen JV, Raeder H, Hathout E et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004: 53: 2713-2718.
-
(2004)
Diabetes
, vol.53
, pp. 2713-2718
-
-
Sagen, J.V.1
Raeder, H.2
Hathout, E.3
-
10
-
-
0032700272
-
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.
-
Malecki MT, Jhala US, Antonellis A et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 1999: 23: 323-328.
-
(1999)
Nat Genet
, vol.23
, pp. 323-328
-
-
Malecki, M.T.1
Jhala, U.S.2
Antonellis, A.3
-
11
-
-
41149139275
-
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
-
Ellard S, Bellanne-Chantelot C, Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008: 51: 546-553.
-
(2008)
Diabetologia
, vol.51
, pp. 546-553
-
-
Ellard, S.1
Bellanne-Chantelot, C.2
Hattersley, A.T.3
-
12
-
-
70350741368
-
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 et al. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat 2009: 30: 1512-1526.
-
(2009)
Hum Mutat
, vol.30
, pp. 1512-1526
-
-
Osbak, K.K.1
Colclough, K.2
Saint-Martin, C.3
-
13
-
-
75149187014
-
Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY).
-
Cuesta-Muñoz AL, Tuomi T, Cobo-Vuilleumier N et al. Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY). Diabetes Care 2010: 33: 290-292.
-
(2010)
Diabetes Care
, vol.33
, pp. 290-292
-
-
Cuesta-Muñoz, A.L.1
Tuomi, T.2
Cobo-Vuilleumier, N.3
-
14
-
-
84904850213
-
Optimization of monogenic diabetes screening programme - initial report on recruitment efficacy of the TEAM project.
-
Borowiec M, Fendler W, Antosik K et al. Optimization of monogenic diabetes screening programme - initial report on recruitment efficacy of the TEAM project. Pediatr Endocrinol Diabetes Metabol 2010: 16: 73-76.
-
(2010)
Pediatr Endocrinol Diabetes Metabol
, vol.16
, pp. 73-76
-
-
Borowiec, M.1
Fendler, W.2
Antosik, K.3
-
15
-
-
73249131823
-
Common genetic determinants of glucose homeostasis in healthy children: the European Youth Heart Study.
-
Kelliny C, Ekelund U, Andersen LB et al. Common genetic determinants of glucose homeostasis in healthy children: the European Youth Heart Study. Diabetes 2009: 58: 2939-2945.
-
(2009)
Diabetes
, vol.58
, pp. 2939-2945
-
-
Kelliny, C.1
Ekelund, U.2
Andersen, L.B.3
-
16
-
-
70349658847
-
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.
-
Lorini R, Klersy C, d'Annunzio G et al. Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. Diabetes Care 2009: 32: 1864-1866.
-
(2009)
Diabetes Care
, vol.32
, pp. 1864-1866
-
-
Lorini, R.1
Klersy, C.2
d'Annunzio, G.3
-
17
-
-
78649803027
-
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.
-
Pruhova S, Dusatkova P, Sumnik Z et al. Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. Pediatr Diabetes 2010: 11: 529-535.
-
(2010)
Pediatr Diabetes
, vol.11
, pp. 529-535
-
-
Pruhova, S.1
Dusatkova, P.2
Sumnik, Z.3
-
18
-
-
62749114767
-
Interaction effect of genetic polymorphisms in glucokinase (GCK) and glucokinase regulatory protein (GCKR) on metabolic traits in healthy Chinese adults and adolescents.
-
Tam CH, Ma RC, So WY et al. Interaction effect of genetic polymorphisms in glucokinase (GCK) and glucokinase regulatory protein (GCKR) on metabolic traits in healthy Chinese adults and adolescents. Diabetes 2009: 58: 765-769.
-
(2009)
Diabetes
, vol.58
, pp. 765-769
-
-
Tam, C.H.1
Ma, R.C.2
So, W.Y.3
-
19
-
-
23044435921
-
Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment.
-
Schnyder S, Mullis PE, Ellard S, Hattersley AT, Fluck CE. Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss Med Wkly 2005: 135: 352-356.
-
(2005)
Swiss Med Wkly
, vol.135
, pp. 352-356
-
-
Schnyder, S.1
Mullis, P.E.2
Ellard, S.3
Hattersley, A.T.4
Fluck, C.E.5
|