-
1
-
-
41149084500
-
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes
-
Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 2008; 4: 200-213.
-
(2008)
Nat Clin Pract Endocrinol Metab
, vol.4
, pp. 200-213
-
-
Murphy, R.1
Ellard, S.2
Hattersley, A.T.3
-
2
-
-
0034809513
-
Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization
-
Owen K, Hattersley AT. Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. Best Pract Res Clin Endocrinol Metab 2001; 15: 309-323.
-
(2001)
Best Pract Res Clin Endocrinol Metab
, vol.15
, pp. 309-323
-
-
Owen, K.1
Hattersley, A.T.2
-
3
-
-
40749151157
-
The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3
-
Bellanné-Chantelot C, Carette C, Riveline JP, Valero R, Gautier JF, Larger E et al. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 2008; 57: 503-508.
-
(2008)
Diabetes
, vol.57
, pp. 503-508
-
-
Bellanné-Chantelot, C.1
Carette, C.2
Riveline, J.P.3
Valero, R.4
Gautier, J.F.5
Larger, E.6
-
4
-
-
23844518966
-
Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1
-
Johansen A, Ek J, Mortensen HB, Pedersen O, Hansen T. Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1. J Clin Endocrinol Metab 2005; 90: 4607-4614.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 4607-4614
-
-
Johansen, A.1
Ek, J.2
Mortensen, H.B.3
Pedersen, O.4
Hansen, T.5
-
5
-
-
78649322855
-
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
-
May 25. [Epub ahead of print]
-
Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010; May 25. [Epub ahead of print]
-
(2010)
Diabetologia
-
-
Shields, B.M.1
Hicks, S.2
Shepherd, M.H.3
Colclough, K.4
Hattersley, A.T.5
Ellard, S.6
-
6
-
-
41149139275
-
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
-
Ellard S, Bellanné-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
Bellanné-Chantelot, C.2
Hattersley, A.T.3
-
7
-
-
20044396943
-
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4a mutations in a large European collection
-
Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HA, Lumb PJ et al. Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4a mutations in a large European collection. Diabetologia 2005; 48: 878-885.
-
(2005)
Diabetologia
, vol.48
, pp. 878-885
-
-
Pearson, E.R.1
Pruhova, S.2
Tack, C.J.3
Johansen, A.4
Castleden, H.A.5
Lumb, P.J.6
-
8
-
-
34848817769
-
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
-
Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J et al. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia 2007; 50: 2313-2317.
-
(2007)
Diabetologia
, vol.50
, pp. 2313-2317
-
-
Ellard, S.1
Thomas, K.2
Edghill, E.L.3
Owens, M.4
Ambye, L.5
Cropper, J.6
-
9
-
-
0342905058
-
Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1a (TCF1) promoter region in MODY patients
-
Godart F, Bellanné-Chantelot C, Clauin S, Gragnoli C, Abderrahmani A, Blanche H et al. Identification of seven novel nucleotide variants in the hepatocyte nuclear factor-1a (TCF1) promoter region in MODY patients. Hum Mutat 2000; 15: 173-180.
-
(2000)
Hum Mutat
, vol.15
, pp. 173-180
-
-
Godart, F.1
Bellanné-Chantelot, C.2
Clauin, S.3
Gragnoli, C.4
Abderrahmani, A.5
Blanche, H.6
-
10
-
-
70649100429
-
Species-specific differences in the expression of the HNF1A HNF1B and HNF4A genes
-
Harries LW, Brown JE, Gloyn AL. Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes. PLoS One 2009; 4: e7855.
-
(2009)
PLoS One
, vol.4
-
-
Harries, L.W.1
Brown, J.E.2
Gloyn, A.L.3
-
11
-
-
0037300839
-
Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4a GCK and HNF-1a
-
Pruhova S, Ek J, Lebl J, Sumnik Z, Saudek F, Andel M et al. Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4a, GCK and HNF-1a. Diabetologia 2003; 46: 291-295.
-
(2003)
Diabetologia
, vol.46
, pp. 291-295
-
-
Pruhova, S.1
Ek, J.2
Lebl, J.3
Sumnik, Z.4
Saudek, F.5
Andel, M.6
-
12
-
-
34648836843
-
Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4a GCK and TCF1 in patients with MODY in Israel
-
Stern E, Strihan C, Potievsky O, Nimri R, Shalitin S, Cohen O et al. Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4a, GCK and TCF1 in patients with MODY in Israel. J Pediatr Endocrinol Metab 2007; 20: 909-921.
-
(2007)
J Pediatr Endocrinol Metab
, vol.20
, pp. 909-921
-
-
Stern, E.1
Strihan, C.2
Potievsky, O.3
Nimri, R.4
Shalitin, S.5
Cohen, O.6
-
13
-
-
33644690386
-
Large genomic rearrangements in the hepatocyte nuclear factor-1b (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5
-
Bellanné-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C et al. Large genomic rearrangements in the hepatocyte nuclear factor-1b (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 2005; 54: 3126-3132.
-
(2005)
Diabetes
, vol.54
, pp. 3126-3132
-
-
Bellanné-Chantelot, C.1
Clauin, S.2
Chauveau, D.3
Collin, P.4
Daumont, M.5
Douillard, C.6
-
14
-
-
42449134450
-
Insulin mutation screening in 1044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood
-
Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B et al. Insulin mutation screening in 1044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008; 57: 1034-1042.
-
(2008)
Diabetes
, vol.57
, pp. 1034-1042
-
-
Edghill, E.L.1
Flanagan, S.E.2
Patch, A.M.3
Boustred, C.4
Parrish, A.5
Shields, B.6
-
15
-
-
35148820198
-
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period
-
Patch AM, Flanagan SE, Boustred C, Hattersley AT, Ellard S. Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. Diabetes Obes Metab 2007; 9: S28-39.
-
(2007)
Diabetes Obes Metab
, vol.9
-
-
Patch, A.M.1
Flanagan, S.E.2
Boustred, C.3
Hattersley, A.T.4
Ellard, S.5
|