-
1
-
-
0035960122
-
Molecular mechanisms and clinical patho-physiology of maturity-onset diabetes of the young
-
Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical patho-physiology 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
-
-
70349578557
-
The diagnosis and management of monogenic diabetes in children and adolescents
-
Hattersley A, Bruining J, Shield J, et al. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 2009; 10 (Suppl 12):33-42.
-
(2009)
Pediatr Diabetes
, vol.10
, Issue.SUPPL. 12
, pp. 33-42
-
-
Hattersley, A.1
Bruining, J.2
Shield, J.3
-
3
-
-
0035992825
-
Different genes, different diabetes: Lessons from maturity-onset diabetes of the young
-
Stride A, Hattersley AT. Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann Med 2002; 34:207-216. (Pubitemid 34804194)
-
(2002)
Annals of Medicine
, vol.34
, Issue.3
, pp. 207-216
-
-
Stride, A.1
Hattersley, A.T.2
-
4
-
-
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. Diabetol 2008; 51:546-553.
-
(2008)
Diabetol
, vol.51
, pp. 546-553
-
-
Ellard, S.1
Bellanne-Chantelot, C.2
Hattersley, A.T.3
-
5
-
-
41149084500
-
Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
-
DOI 10.1038/ncpendmet0778, PII NCPENDMET0778
-
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. (Pubitemid 351430925)
-
(2008)
Nature Clinical Practice Endocrinology and Metabolism
, vol.4
, Issue.4
, pp. 200-213
-
-
Murphy, R.1
Ellard, S.2
Hattersley, A.T.3
-
6
-
-
2342633204
-
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
-
DOI 10.1056/NEJMoa032922
-
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. (Pubitemid 38917250)
-
(2004)
New England Journal of Medicine
, vol.350
, Issue.18
, pp. 1838-1849
-
-
Gloyn, A.L.1
Pearson, E.R.2
Antcliff, J.F.3
Proks, P.4
Bruining, G.J.5
Slingerland, A.S.6
Howard, N.7
Srinivasan, S.8
Silva, J.M.C.L.9
Molnes, J.10
Edghill, E.L.11
Frayling, T.M.12
Temple, I.K.13
Mackay, D.14
Shield, J.P.H.15
Sumnik, Z.16
Van Rhijn, A.17
Wales, J.K.H.18
Clark, P.19
Gorman, S.20
Aisenberg, J.21
Ellard, S.22
Njolstad, P.R.23
Ashcroft, F.M.24
Hattersley, A.T.25
more..
-
8
-
-
0033860008
-
Transient neonatal diabetes: Widening the understanding of the etiopathogenesis of diabetes
-
Temple IK, Gardner RJ, Mackay DJ, et al. Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. Diab 2000; 49:1359-1366. (Pubitemid 30624238)
-
(2000)
Diabetes
, vol.49
, Issue.8
, pp. 1359-1366
-
-
Temple, I.K.1
Gardner, R.J.2
Mackay, D.J.G.3
Barber, J.C.K.4
Robinson, D.O.5
Shield, J.P.H.6
-
9
-
-
64249170094
-
A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients
-
Shepherd M, Shields B, Ellard S, et al. A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med 2009; 26:437-441.
-
(2009)
Diabet Med
, vol.26
, pp. 437-441
-
-
Shepherd, M.1
Shields, B.2
Ellard, S.3
-
10
-
-
0027472126
-
Familial hyperglycemia due to mutations in glucokinase - Definition of a subtype of diabetes mellitus
-
DOI 10.1056/NEJM199303113281005
-
Froguel P, Zouali H, Vionnet N, et al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus [see comments]. N Engl J Med 1993; 328:697-702. (Pubitemid 23073372)
-
(1993)
New England Journal of Medicine
, vol.328
, Issue.10
, pp. 697-702
-
-
Froguel, P.1
Zouali, H.2
Vionnet, N.3
Velho, G.4
Vaxillaire, M.5
Sun, F.6
Lesage, S.7
Stoffel, M.8
Takeda, J.9
Passa, P.10
Permutt, M.A.11
Beckmann, J.S.12
Bell, G.I.13
Cohen, D.14
-
11
-
-
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
-
12
-
-
0242384237
-
Glucokinase (GCK) Mutations in Hyper- and Hypoglycemia: Maturity-Onset Diabetes of the Young, Permanent Neonatal Diabetes, and Hyperinsulinemia of Infancy
-
DOI 10.1002/humu.10277
-
Gloyn AL. Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat 2003; 22:353-362. (Pubitemid 37346107)
-
(2003)
Human Mutation
, vol.22
, Issue.5
, pp. 353-362
-
-
Gloyn, A.L.1
-
13
-
-
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. Diab care 2009; 32:1864-1866.
-
(2009)
Diab Care
, vol.32
, pp. 1864-1866
-
-
Lorini, R.1
Klersy, C.2
D'Annunzio, G.3
-
14
-
-
67349267032
-
Identification ofeight new mutations in the GCK gene by DHPLC screening in a Spanish population
-
Solera J,Arias P, Aminoso C, et al. Identification ofeight new mutations in the GCK gene by DHPLC screening in a Spanish population. Diabetes Res Clin Pract 2009; 85:20-23.
-
(2009)
Diabetes Res Clin Pract
, vol.85
, pp. 20-23
-
-
Solera, J.1
Arias, P.2
Aminoso, C.3
-
15
-
-
33646416212
-
Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees
-
Fajans SS, Bell GI. Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetol 2006; 49:1106-1108.
-
(2006)
Diabetol
, vol.49
, pp. 1106-1108
-
-
Fajans, S.S.1
Bell, G.I.2
-
16
-
-
75149187014
-
Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY)
-
Cuesta-Munoz AL, Tuomi T, Cobo-Vuilleumier N, et al. Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY). Diab care 2010; 33:290-292.
-
(2010)
Diab Care
, vol.33
, pp. 290-292
-
-
Cuesta-Munoz, A.L.1
Tuomi, T.2
Cobo-Vuilleumier, N.3
-
17
-
-
33646778478
-
Minireview: Pharmacogenetics and beyond: The interaction of therapeutic response, β-cell physiology, and genetics in diabetes
-
DOI 10.1210/en.2006-0152
-
Hattersley AT, Pearson ER. Mini review: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes. Endocrinology 2006; 147:2657-2663. (Pubitemid 43764600)
-
(2006)
Endocrinology
, vol.147
, Issue.6
, pp. 2657-2663
-
-
Hattersley, A.T.1
Pearson, E.R.2
-
18
-
-
58149216624
-
Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation
-
Spyer G, Mac Leod KM, Shepherd M, et al. Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation. Diabet Med 2009; 26:14-18.
-
(2009)
Diabet Med
, vol.26
, pp. 14-18
-
-
Spyer, G.1
Mac Leod, K.M.2
Shepherd, M.3
-
19
-
-
0029962261
-
Liver-enriched transcription factors and hepatocyte differentiation
-
Cereghini S. Liver-enriched transcription factors and hepatocyte differentia-tion.FASEBJ 1996; 10:267-282. (Pubitemid 26079946)
-
(1996)
FASEB Journal
, vol.10
, Issue.2
, pp. 267-282
-
-
Cereghini, S.1
-
20
-
-
0030695445
-
The maturity-onset diabetes of the young (MODY1) transcription factor HNF4α regulates expression of genes required for glucose transport and metabolism
-
DOI 10.1073/pnas.94.24.13209
-
Stoffel M, Duncan SA. The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism. Proc Natl Acad Sci U S A 1997; 94:13209-13214. (Pubitemid 27518501)
-
(1997)
Proceedings of the National Academy of Sciences of the United States of America
, vol.94
, Issue.24
, pp. 13209-13214
-
-
Stoffel, M.1
Duncan, S.A.2
-
21
-
-
0034680936
-
Hepatocyte nuclear factor 4alpha regulates the expression of pancreatic beta -cell genes implicated in glucose metabolism and nutrient-induced insulin secretion
-
Wang H, Maechler P, Antinozzi PA, et al. Hepatocyte nuclear factor 4alpha regulates the expression of pancreatic beta -cell genes implicated in glucose metabolism and nutrient-induced insulin secretion. J Biol Chem 2000; 275:35953-35959.
-
(2000)
J Biol Chem
, vol.275
, pp. 35953-35959
-
-
Wang, H.1
Maechler, P.2
Antinozzi, P.A.3
-
22
-
-
0026636624
-
Transcriptional regulation of human apolipoprotein genes Apo B, Apo CIII, and Apo AII by membersof the steroid hormone receptorsuperfamily HNF-4, ARP-1, EAR-2, and EAR-3
-
Ladias JA, Hadzopoulou-Cladaras M, Kardassis D, et al. Transcriptional regulation of human apolipoprotein genes Apo B, Apo CIII, and Apo AII by membersof the steroid hormone receptorsuperfamily HNF-4, ARP-1, EAR-2, and EAR-3. J Biol Chem 1992; 267:15849-15860.
-
(1992)
J Biol Chem
, vol.267
, pp. 15849-15860
-
-
Ladias, J.A.1
Hadzopoulou-Cladaras, M.2
Kardassis, D.3
-
23
-
-
33748357551
-
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young
-
DOI 10.1002/humu.20357
-
Ellard S, Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat 2006; 27:854-869. (Pubitemid 44336935)
-
(2006)
Human Mutation
, vol.27
, Issue.9
, pp. 854-869
-
-
Ellard, S.1
Colclough, K.2
-
24
-
-
59349087713
-
Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype
-
Cappelli A, Tumini S, Consoli A, et al. Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. Diabetes Res Clin Pract 2009; 83:e72-e74.
-
(2009)
Diabetes Res Clin Pract
, vol.83
-
-
Cappelli, A.1
Tumini, S.2
Consoli, A.3
-
25
-
-
0142186278
-
Genetic cause of hyperglycaemia and response to treatment in diabetes
-
DOI 10.1016/S0140-6736(03)14571-0
-
Pearson ER, Starkey BJ, Powell RJ, et al. Genetic cause of hypergly-caemia and response to treatment in diabetes. Lancet 2003; 362:1275-1281. (Pubitemid 37324255)
-
(2003)
Lancet
, vol.362
, Issue.9392
, pp. 1275-1281
-
-
Pearson, E.R.1
Starkey, B.J.2
Powell, R.J.3
Gribble, F.M.4
Clark, P.M.5
Hattersley, A.T.6
-
26
-
-
20044396943
-
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection
-
DOI 10.1007/s00125-005-1738-y
-
Pearson ER, Pruhova S, Tack CJ, et al. Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha muta-tions in a large European collection. Diabetol 2005; 48:878-885. (Pubitemid 40767980)
-
(2005)
Diabetologia
, vol.48
, Issue.5
, pp. 878-885
-
-
Pearson, E.R.1
Pruhova, S.2
Tack, C.J.3
Johansen, A.4
Castleden, H.A.J.5
Lumb, P.J.6
Wierzbicki, A.S.7
Clark, P.M.8
Lebl, J.9
Pedersen, O.10
Ellard, S.11
Hansen, T.12
Hattersley, A.T.13
-
27
-
-
0035122282
-
β-cell genes and diabetes: Molecular and clinical characterization of mutations in transcription factors
-
Frayling TM, Evans JC, Bulman MP, et al. beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diab 2001; 50 (Suppl 1):S94-S100. (Pubitemid 32148228)
-
(2001)
Diabetes
, vol.50
, Issue.SUPPL. 1
-
-
Frayling, T.M.1
Evans, J.C.2
Bulman, M.P.3
Pearson, E.4
Allen, L.5
Owen, K.6
Bingham, C.7
Hannemann, M.8
Shepherd, M.9
Ellard, S.10
Hattersley, A.T.11
-
28
-
-
78649810544
-
Assessment of high-sensi-tivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations
-
Owen KR, Thanabalasingham G, James TJ, et al. Assessment of high-sensi-tivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. Diab care 2010; 33:1919-1924.
-
(2010)
Diab Care
, vol.33
, pp. 1919-1924
-
-
Owen, K.R.1
Thanabalasingham, G.2
James, T.J.3
-
29
-
-
33644690386
-
Large genomic rearrangements in the hepatocyte nuclear factor-1β (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5
-
DOI 10.2337/diabetes.54.11.3126
-
Bellanne-Chantelot C, Clauin S, Chauveau D, et al. Largegenomic rearrange-ments in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diab 2005; 54:3126-3132. (Pubitemid 43334365)
-
(2005)
Diabetes
, vol.54
, Issue.11
, pp. 3126-3132
-
-
Bellanne-Chantelot, C.1
Clauin, S.2
Chauveau, D.3
Collin, P.4
Daumont, M.5
Douillard, C.6
Dubois-Laforgue, D.7
Dusselier, L.8
Gautier, J.-F.9
Jadoul, M.10
Laloi-Michelin, M.11
Jacquesson, L.12
Larger, E.13
Louis, J.14
Nicolino, M.15
Subra, J.-F.16
Wilhem, J.-M.17
Young, J.18
Velho, G.19
Timsit, J.20
more..
-
30
-
-
8344272048
-
Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1β
-
DOI 10.1093/ndt/gfh348
-
Bingham C, Hattersley AT. Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. Nephrol Dial Transplant 2004; 19:2703-2708. (Pubitemid 39480961)
-
(2004)
Nephrology Dialysis Transplantation
, vol.19
, Issue.11
, pp. 2703-2708
-
-
Bingham, C.1
Hattersley, A.T.2
-
31
-
-
2342472176
-
Contrasting Diabetes Phenotypes Associated with Hepatocyte Nuclear Factor-1α and -1β Mutations
-
DOI 10.2337/diacare.27.5.1102
-
Pearson ER, Badman MK, Lockwood CR, et al. Contrasting diabetes phe-notypes associated with hepatocyte nuclear factor-1alpha and -1beta muta-tions. Diab Care 2004; 27:1102-1107. (Pubitemid 38579773)
-
(2004)
Diabetes Care
, vol.27
, Issue.5
, pp. 1102-1107
-
-
Pearson, E.R.1
Badman, M.K.2
Lockwood, C.R.3
Clark, P.M.4
Ellard, S.5
Bingham, C.6
Hattersley, A.T.7
-
32
-
-
12144286598
-
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations
-
Bellanne-Chantelot C, Chauveau D, Gautier JF, et al. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med 2004; 140:510-517.
-
(2004)
Ann Intern Med
, vol.140
, pp. 510-517
-
-
Bellanne-Chantelot, C.1
Chauveau, D.2
Gautier, J.F.3
-
34
-
-
0030886674
-
Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/NeuroD-deficient mice
-
Naya FJ, Huang HP, Qiu Y, et al. Diabetes, defective pancreatic morphogen-esis, and abnormal enteroendocrine differentiation in BETA2/neuro D-deficient mice. Genes Dev 1997; 11:2323-2334. (Pubitemid 27408530)
-
(1997)
Genes and Development
, vol.11
, Issue.18
, pp. 2323-2334
-
-
Naya, F.J.1
Huang, H.-P.2
Qiu, Y.3
Mutoh, H.4
DeMayo, F.J.5
Leiter, A.B.6
Tsai, M.-J.7
-
35
-
-
0035204024
-
MODY in Iceland is associated with mutations in HNF-1α and a novel mutation in NeuroD1
-
DOI 10.1007/s001250100016
-
Kristinsson SY, Thorolfsdottir ET, Talseth B, et al. MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in Neuro D1. Diabetol 2001; 44:2098-2103. (Pubitemid 33124057)
-
(2001)
Diabetologia
, vol.44
, Issue.11
, pp. 2098-2103
-
-
Kristinsson, S.Y.1
Thorolfsdottir, E.T.2
Talseth, B.3
Steingrimsson, E.4
Thorsson, A.V.5
Helgason, T.6
Hreidarsson, A.B.7
Arngrimsson, R.8
-
36
-
-
73649098806
-
MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells
-
Fernandez-Zapico ME, van Velkinburgh JC, Gutierrez-Aguilar R, et al. MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells. J Biol Chem 2009; 284:36482-36490.
-
(2009)
J Biol Chem
, vol.284
, pp. 36482-36490
-
-
Fernandez-Zapico, M.E.1
Van Velkinburgh, J.C.2
Gutierrez-Aguilar, R.3
-
37
-
-
77449134528
-
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes
-
Torsvik J, Johansson S, Johansen A, et al. Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Hum Genet 2010; 127:55-64.
-
(2010)
Hum Genet
, vol.127
, pp. 55-64
-
-
Torsvik, J.1
Johansson, S.2
Johansen, A.3
-
38
-
-
29444440400
-
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
-
DOI 10.1038/ng1708
-
Raeder H, Johansson S, Holm PI, et al. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet 2006; 38:54-62. (Pubitemid 43011882)
-
(2006)
Nature Genetics
, vol.38
, Issue.1
, pp. 54-62
-
-
Raeder, H.1
Johansson, S.2
Holm, P.I.3
Haldorsen, I.S.4
Mas, E.5
Sbarra, V.6
Nermoen, I.7
Eide, S.A.8
Grevle, L.9
Bjorkhaug, L.10
Sagen, J.V.11
Aksnes, L.12
Sovik, O.13
Lombardo, D.14
Molven, A.15
Njolstad, P.R.16
-
39
-
-
56149127744
-
Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations
-
Vesterhus M, Raeder H, Aurlien H, et al. Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diab Care 2008; 31:1738-1740.
-
(2008)
Diab Care
, vol.31
, pp. 1738-1740
-
-
Vesterhus, M.1
Raeder, H.2
Aurlien, H.3
-
40
-
-
70349490955
-
Testing for mono-genic diabetes among children and adolescents with antibody-negative clinically defined type 1 diabetes
-
Rubio-Cabezas O, Edghill EL, Argente J, Hattersley AT. Testing for mono-genic diabetes among children and adolescents with antibody-negative clinically defined type 1 diabetes. Diabet Med 2009; 26:1070-1074.
-
(2009)
Diabet Med
, vol.26
, pp. 1070-1074
-
-
Rubio-Cabezas, O.1
Edghill, E.L.2
Argente, J.3
Hattersley, A.T.4
-
41
-
-
64549146740
-
Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies
-
Bonfanti R, Colombo C, Nocerino V, et al. Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies. Diab Care 2009; 32:123-125.
-
(2009)
Diab Care
, vol.32
, pp. 123-125
-
-
Bonfanti, R.1
Colombo, C.2
Nocerino, V.3
-
42
-
-
77949449300
-
Further evidence that mutations in INS can be a rare cause of maturity-onset diabetes oftheyoung (MODY)
-
Boesgaard TW, Pruhova S, Andersson EA, et al. Further evidence that mutations in INS can be a rare cause of maturity-onset diabetes oftheyoung (MODY). BMC Med Genet 2010; 11:42.
-
(2010)
BMC Med Genet
, vol.11
, pp. 42
-
-
Boesgaard, T.W.1
Pruhova, S.2
Andersson, E.A.3
-
43
-
-
70149104834
-
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction
-
Borowiec M, Liew CW, Thompson R, et al. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. Proc Natl Acad Sci U S A 2009; 106:14460-14465.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 14460-14465
-
-
Borowiec, M.1
Liew, C.W.2
Thompson, R.3
-
44
-
-
34447132254
-
Brief report: PAX4 mutations in Thais with maturity onset diabetes of the young
-
DOI 10.1210/jc.2006-1927
-
Plengvidhya N, Kooptiwut S, Songtawee N, et al. PAX4 mutations in Thais with maturity onset diabetes of the young. J Clin Endocrinol Metab 2007; 92:2821-2826. (Pubitemid 47037395)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, Issue.7
, pp. 2821-2826
-
-
Plengvidhya, N.1
Kooptiwut, S.2
Songtawee, N.3
Doi, A.4
Furuta, H.5
Nishi, M.6
Nanjo, K.7
Tantibhedhyangkul, W.8
Boonyasrisawat, W.9
Yenchitsomanus, P.-T.10
Doria, A.11
Banchuin, N.12
-
45
-
-
74749104306
-
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology
-
Edghill EL, Minton JA, Groves CJ, et al. Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. JOP 2010; 11:14-17.
-
(2010)
JOP
, vol.11
, pp. 14-17
-
-
Edghill, E.L.1
Minton, J.A.2
Groves, C.J.3
-
46
-
-
43549102666
-
Neonatal diabetes mellitus
-
DOI 10.1210/er.2007-0029
-
Guilar-Bryan L, Bryan J. Neonatal diabetes mellitus. Endocr Rev2008;29:265-291. (Pubitemid 351679699)
-
(2008)
Endocrine Reviews
, vol.29
, Issue.3
, pp. 265-291
-
-
Aguilar-Bryan, L.1
Bryan, J.2
-
47
-
-
77952706373
-
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register
-
Wiedemann B, Schober E, Waldhoer T, et al. Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes 2010; 11:18-23.
-
(2010)
Pediatr Diabetes
, vol.11
, pp. 18-23
-
-
Wiedemann, B.1
Schober, E.2
Waldhoer, T.3
-
48
-
-
67650658777
-
Referral rates for diagnostic testing supportan incidenceof permanent neonataldiabetesin three European countries of at least 1 in 260,000 live births
-
Slingerland AS, Shields BM, Flanagan SE, et al. Referral rates for diagnostic testing supportan incidenceof permanent neonataldiabetesin three European countries of at least 1 in 260,000 live births. Diabetol 2009; 52:1683-1685.
-
(2009)
Diabetol
, vol.52
, pp. 1683-1685
-
-
Slingerland, A.S.1
Shields, B.M.2
Flanagan, S.E.3
-
49
-
-
0032421068
-
Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus
-
Gardner RJ, Robinson DO, Lamont L, et al. Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. Clin Genet 1998; 54:522-525. (Pubitemid 29002417)
-
(1998)
Clinical Genetics
, vol.54
, Issue.6
, pp. 522-525
-
-
Gardner, R.J.1
Robinson, D.O.2
Lamont, L.3
Shield, J.P.H.4
Temple, I.K.5
-
50
-
-
0033962830
-
Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6
-
Hermann R, Laine AP, Johansson C, et al. Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6. Peds 2000; 105 (1 Pt 1):49-52. (Pubitemid 30035717)
-
(2000)
Pediatrics
, vol.105
, Issue.1
, pp. 49-52
-
-
Hermann, R.1
Laine, A.-P.2
Johansson, C.3
Niederland, T.4
Tokarska, L.5
Dziatkowiak, H.6
Ilonen, J.7
Soltesz, G.8
-
51
-
-
0033981939
-
Refinement of the 6q chromosomal region implicated in transient neonatal diabetes
-
Cave H, Polak M, Drunat S, et al. Refinement of the 6q chromosomal region implicated in transient neonatal diabetes. Diab 2000; 49:108-113. (Pubitemid 30022931)
-
(2000)
Diabetes
, vol.49
, Issue.1
, pp. 108-113
-
-
Cave, H.1
Polak, M.2
Drunat, S.3
Denamur, E.4
Czernichow, P.5
-
52
-
-
0034163575
-
An imprinted locus associated with transient neonatal diabetes mellitus
-
Gardner RJ, Mackay DJ, Mungall AJ, et al.An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet 2000; 9:589-596. (Pubitemid 30154017)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.4
, pp. 589-596
-
-
Gardner, R.J.1
Mackay, D.J.G.2
Mungall, A.J.3
Polychronakos, C.4
Siebert, R.5
Shield, J.P.H.6
Temple, I.K.7
Robinson, D.O.8
-
53
-
-
0032555068
-
H ZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer
-
Varrault A, Ciani E, Apiou F, et al. h ZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer. Proc Natl Acad Sci U S A 1998; 95:8835-8840.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 8835-8840
-
-
Varrault, A.1
Ciani, E.2
Apiou, F.3
-
54
-
-
48349092985
-
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
-
Mackay DJ, Callaway JL, Marks SM, et al. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 2008; 40:949-951.
-
(2008)
Nat Genet
, vol.40
, pp. 949-951
-
-
MacKay, D.J.1
Callaway, J.L.2
Marks, S.M.3
-
55
-
-
33746778878
-
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
-
DOI 10.1056/NEJMoa055068
-
Babenko AP, Polak M, Cave H, et al.Activating mutations inthe ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006; 355:456-466. (Pubitemid 44162273)
-
(2006)
New England Journal of Medicine
, vol.355
, Issue.5
, pp. 456-466
-
-
Babenko, A.P.1
Polak, M.2
Cave, H.3
Busiah, K.4
Czernichow, P.5
Scharfmann, R.6
Bryan, J.7
Aguilar-Bryan, L.8
Vaxillaire, M.9
Froguel, P.10
-
56
-
-
66849093883
-
The K(ATP) channel and neonatal diabetes
-
Shimomura K. The K(ATP) channel and neonatal diabetes. Endocr J 2009; 56:165-175.
-
(2009)
Endocr J
, vol.56
, pp. 165-175
-
-
Shimomura, K.1
-
57
-
-
52649099443
-
Diagnosis and treatment of neonatal diabetes: A United States experience
-
Stoy J, Greeley SA, Paz VP, et al. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes 2008; 9:450-459.
-
(2008)
Pediatr Diabetes
, vol.9
, pp. 450-459
-
-
Stoy, J.1
Greeley, S.A.2
Paz, V.P.3
-
58
-
-
24144467758
-
Activating mutations in Kir6.2 and neonatal diabetes: New clinical syndromes, new scientific insights, and new therapy
-
DOI 10.2337/diabetes.54.9.2503
-
Hattersley AT, Ashcroft FM. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diab 2005; 54:2503-2513. (Pubitemid 41233571)
-
(2005)
Diabetes
, vol.54
, Issue.9
, pp. 2503-2513
-
-
Hattersley, A.T.1
Ashcroft, F.M.2
-
59
-
-
33746686369
-
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
-
DOI 10.1056/NEJMoa061759
-
Pearson ER, Flechtner I, Njolstad PR, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006; 355:467-477. (Pubitemid 44162274)
-
(2006)
New England Journal of Medicine
, vol.355
, Issue.5
, pp. 467-477
-
-
Pearson, E.R.1
Flechtner, I.2
Njolstad, P.R.3
Malecki, M.T.4
Flanagan, S.E.5
Larkin, B.6
Ashcroft, F.M.7
Klimes, I.8
Codner, E.9
Iotova, V.10
Slingerland, A.S.11
Shield, J.12
Robert, J.-J.13
Holst, J.J.14
Clark, P.M.15
Ellard, S.16
Sovik, O.17
Polak, M.18
Hattersley, A.T.19
-
60
-
-
40849139200
-
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy
-
DOI 10.1210/jc.2007-1826
-
Koster JC, Cadario F, Peruzzi C, et al. The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. J Clin Endocrinol Metab 2008; 93:1054-1061. (Pubitemid 351398592)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, Issue.3
, pp. 1054-1061
-
-
Koster, J.C.1
Cadario, F.2
Peruzzi, C.3
Colombo, C.4
Nichols, C.G.5
Barbetti, F.6
-
61
-
-
33847363327
-
Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59 M mutation in the KCNJ11 gene
-
Slingerland AS, Nuboer R, Hadders-Algra M, et al. Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59 M mutation in the KCNJ11 gene. Diabetol 2006; 49:2559-2563.
-
(2006)
Diabetol
, vol.49
, pp. 2559-2563
-
-
Slingerland, A.S.1
Nuboer, R.2
Hadders-Algra, M.3
-
62
-
-
38949177444
-
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations
-
DOI 10.2337/dc07-1785
-
Rafiq M, Flanagan SE, Patch AM, et al. Effective treatment with oral sulfo-nylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diab Care 2008; 31:204-209. (Pubitemid 351213320)
-
(2008)
Diabetes Care
, vol.31
, Issue.2
, pp. 204-209
-
-
Rafiq, M.1
Flanagan, S.E.2
Patch, A.-M.3
Shields, B.M.4
Ellard, S.5
Hattersley, A.T.6
Batra, C.7
Bruining, J.8
Carson, D.9
Codner, E.10
Cummings, E.11
Curran, J.12
Davis, E.13
Deiss, D.14
Herr, M.15
Hussain, K.16
Legault, L.17
Malecki, M.18
Paskova, M.19
Pearson, E.20
Rodda, C.21
Rothenbuhler, A.22
Sanchez, J.23
Shield, J.24
Stanca, R.-M.25
Van Der Meulen, J.26
more..
-
63
-
-
35448994352
-
Insulin gene mutations as a cause of permanent neonatal diabetes
-
DOI 10.1073/pnas.0707291104
-
Stoy J, Edghill EL, Flanagan SE, et al. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A 2007; 104:15040-15044. (Pubitemid 47619589)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.38
, pp. 15040-15044
-
-
Stoy, J.1
Edghill, E.L.2
Flanagan, S.E.3
Ye, H.4
Paz, V.P.5
Pluzhnikov, A.6
Below, J.E.7
Hayes, M.G.8
Cox, N.J.9
Lipkind, G.M.10
Lipton, R.B.11
Greeley, S.A.W.12
Patch, A.-M.13
Ellard, S.14
Steiner, D.F.15
Hattersley, A.T.16
Philipson, L.H.17
Bell, G.I.18
-
64
-
-
42449102605
-
Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: A report from the French ND (Neonatal Diabetes) Study Group
-
Polak M, Dechaume A,Cave H, et al. Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group. Diab 2008; 57:1115-1119.
-
(2008)
Diab
, vol.57
, pp. 1115-1119
-
-
Polak, M.1
Dechaume Acave, H.2
|