-
1
-
-
69749124373
-
Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus.
-
Codner E, Rocha A, Deng L et al. Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus. Pediatr Diabetes 2009: 10: 382-388.
-
(2009)
Pediatr Diabetes
, vol.10
, pp. 382-388
-
-
Codner, E.1
Rocha, A.2
Deng, L.3
-
2
-
-
33748994550
-
Glucokinase mutations in young children with hyperglycemia.
-
Codner E, Deng L, Perez-Bravo F et al. Glucokinase mutations in young children with hyperglycemia. Diabetes Metab Res Rev 2006: 22: 348-355.
-
(2006)
Diabetes Metab Res Rev
, vol.22
, pp. 348-355
-
-
Codner, E.1
Deng, L.2
Perez-Bravo, F.3
-
3
-
-
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 Metab 2010: 16: 73-76.
-
(2010)
Pediatr Endocrinol Diabetes Metab
, vol.16
, pp. 73-76
-
-
Borowiec, M.1
Fendler, W.2
Antosik, K.3
-
4
-
-
84856417007
-
Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population.
-
DOI: 10.1111/j.1399-0004.2011.01656.x.
-
Borowiec M, Antosik K, Fendler W et al. Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population. Clin Genet 2011. DOI: 10.1111/j.1399-0004.2011.01656.x.
-
(2011)
Clin Genet
-
-
Borowiec, M.1
Antosik, K.2
Fendler, W.3
-
5
-
-
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
-
6
-
-
77953446523
-
The human gene mutation database: 2008 update.
-
Stenson PD, Mort M, Ball EV et al. The human gene mutation database: 2008 update. Genome Med 2009: 1: 13.
-
(2009)
Genome Med
, vol.1
, pp. 13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
-
7
-
-
77951640946
-
A method and server for predicting damaging missense mutations.
-
Adzhubei IA, Schmidt S, Peshkin L et al. A method and server for predicting damaging missense mutations. Nat Methods 2010: 7: 248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
8
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009: 4: 1073-1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
9
-
-
78649322855
-
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
-
Shields BM, Hicks S, Shepherd MH et al. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010: 53: 2504-2508.
-
(2010)
Diabetologia
, vol.53
, pp. 2504-2508
-
-
Shields, B.M.1
Hicks, S.2
Shepherd, M.H.3
-
10
-
-
33846826605
-
The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations.
-
Singh R, Pearson ER, Clark PM, Hattersley AT. The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations. Diabetologia 2007: 50: 620-624.
-
(2007)
Diabetologia
, vol.50
, pp. 620-624
-
-
Singh, R.1
Pearson, E.R.2
Clark, P.M.3
Hattersley, A.T.4
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