-
1
-
-
1642430590
-
Neonatal and very-early-onset diabetes mellitus
-
DOI 10.1016/S1084-2756(03)00064-2
-
M. Polak, and J. Shield Neonatal and very-early-onset diabetes mellitus Seminars in Neonatalogy 9 2004 59 65 (Pubitemid 38112120)
-
(2004)
Seminars in Neonatology
, vol.9
, Issue.1
, pp. 59-65
-
-
Polaka, M.1
Shield, J.2
-
2
-
-
43549102666
-
Neonatal diabetes mellitus
-
DOI 10.1210/er.2007-0029
-
L. Aguilar-Bryan, and J. Bryan Neonatal diabetes mellitus Endocrine Reviews 29 2008 265 291 (Pubitemid 351679699)
-
(2008)
Endocrine Reviews
, vol.29
, Issue.3
, pp. 265-291
-
-
Aguilar-Bryan, L.1
Bryan, J.2
-
3
-
-
52649099443
-
Diagnosis and treatment of neonatal diabetes: An United States experience
-
J. Stoy, S.A.W. Greeley, and V.P. Paz Diagnosis and treatment of neonatal diabetes: an United States experience Pediatric Diabetes 9 2008 450 459
-
(2008)
Pediatric Diabetes
, vol.9
, pp. 450-459
-
-
Stoy, J.1
Greeley, S.A.W.2
Paz, V.P.3
-
4
-
-
67650658777
-
Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births
-
A.S. Slingerland, B.M. Shields, and S.E. Flanagan Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births Diabetologia 52 2009 1683 1685
-
(2009)
Diabetologia
, vol.52
, pp. 1683-1685
-
-
Slingerland, A.S.1
Shields, B.M.2
Flanagan, S.E.3
-
5
-
-
65549145468
-
Breakthroughs in monogenic diabetes genetics: From pediatric forms to young adulthood diabetes
-
M. Vaxillaire, A. Bonnefond, and P. Froguel Breakthroughs in monogenic diabetes genetics: from pediatric forms to young adulthood diabetes Pediatric Endocrinology Reviews 6 2009 405 417
-
(2009)
Pediatric Endocrinology Reviews
, vol.6
, pp. 405-417
-
-
Vaxillaire, M.1
Bonnefond, A.2
Froguel, P.3
-
6
-
-
0033860008
-
Transient neonatal diabetes: Widening the understanding of the etiopathogenesis of diabetes
-
I.K. Temple, R.J. Gardner, and D.J. Mackay Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes Diabetes 49 2000 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
-
7
-
-
70349578557
-
The diagnosis and management of monogenic diabetes in children and adolescents
-
A.T. Hattersley, J. Bruining, and J. Shield The diagnosis and management of monogenic diabetes in children and adolescents Pediatric Diabetes 10 2009 33 42
-
(2009)
Pediatric Diabetes
, vol.10
, pp. 33-42
-
-
Hattersley, A.T.1
Bruining, J.2
Shield, J.3
-
8
-
-
80755145978
-
Neonatal diabetes: An expanding list of genes allows for improved diagnosis and treatment
-
S.A. Greeley, R.N. Naylor, and L.H. Philipson Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment Current Diabetic Reports 11 2011 519 532
-
(2011)
Current Diabetic Reports
, vol.11
, pp. 519-532
-
-
Greeley, S.A.1
Naylor, R.N.2
Philipson, L.H.3
-
9
-
-
34249854617
-
Origin of de Novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings
-
DOI 10.1210/jc.2006-2817
-
E.L. Edghill, A.L. Gloyn, and A. Goriely Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings Journal of Clinical Endocrinology and Metabolism 92 2007 1773 1777 (Pubitemid 46997187)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, Issue.5
, pp. 1773-1777
-
-
Edghill, E.L.1
Gloyn, A.L.2
Goriely, A.3
Harries, L.W.4
Flanagan, S.E.5
Rankin, J.6
Hattersley, A.T.7
Ellard, S.8
-
10
-
-
33746778878
-
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
-
DOI 10.1056/NEJMoa055068
-
A.P. Babenko, M. Polak, and H. Cavé Activating mutations in the ABCC8 gene in neonatal diabetes mellitus The New England Journal of Medicine 355 2006 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
-
11
-
-
2342633204
-
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
-
DOI 10.1056/NEJMoa032922
-
A.L. Gloyn, E.R. Pearson, and J.F. Antcliff Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes The New England Journal of Medicine 350 2004 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..
-
12
-
-
34547747922
-
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects
-
DOI 10.1086/519174
-
S. Ellard, S.E. Flanagan, and C.A. Girard Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects American Journal of Human Genetics 81 2007 375 382 (Pubitemid 47236084)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.2
, pp. 375-382
-
-
Ellard, S.1
Flanagan, S.E.2
Girard, C.A.3
Patch, A.-M.4
Harries, L.W.5
Parrish, A.6
Edghill, E.L.7
Mackay, D.J.G.8
Proks, P.9
Shimomura, K.10
Haberland, H.11
Carson, D.J.12
Shield, J.P.H.13
Hattersley, A.T.14
Ashcroft, F.M.15
-
14
-
-
0031031571
-
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence
-
DOI 10.1038/ng0197-106
-
D.A. Stoffers, N.T. Zinkin, and V. Stanojevic Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence Nature Genetics 15 1997 106 110 (Pubitemid 27014961)
-
(1997)
Nature Genetics
, vol.15
, Issue.1
, pp. 106-110
-
-
Stoffers, D.A.1
Zinkin, N.T.2
Stanojevic, V.3
Clarke, W.L.4
Habener, J.F.5
-
15
-
-
77950355686
-
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency
-
M. Nicolino, K.C. Claiborn, and V. Senée A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency Diabetes 59 2010 733 740
-
(2010)
Diabetes
, vol.59
, pp. 733-740
-
-
Nicolino, M.1
Claiborn, K.C.2
Senée, V.3
-
16
-
-
0342902204
-
Neonatal diabetes mellitus due to complete glucokinase deficiency
-
DOI 10.1056/NEJM200105243442104
-
P.R. Njolstad, O. Sovik, and A. Cuesta-Munoz Neonatal diabetes mellitus due to complete glucokinase deficiency The New England Journal of Medicine 344 2001 1588 1592 (Pubitemid 32479911)
-
(2001)
New England Journal of Medicine
, vol.344
, Issue.21
, pp. 1588-1592
-
-
Njolstad, P.R.1
Sovik, O.2
Cuesta-Munoz, A.3
Bjorkhaug, L.4
Massa, O.5
Barbetti, F.6
Undlien, D.E.7
Shiota, C.8
Magnuson, M.A.9
Molven, A.10
Matschinsky, F.M.11
Bell, G.I.12
-
17
-
-
0034163575
-
An imprinted locus associated with transient neonatal diabetes mellitus
-
R.J. Gardner, D.J. Mackay, and A.J. Mungall An imprinted locus associated with transient neonatal diabetes mellitus Human Molecular Genetics 9 2000 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
-
18
-
-
33746972820
-
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
-
DOI 10.1007/s00439-006-0205-2
-
D.J. Mackay, S.E. Boonen, and J. Clayton-Smith A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus Human Genetics 120 2006 262 269 (Pubitemid 44204015)
-
(2006)
Human Genetics
, vol.120
, Issue.2
, pp. 262-269
-
-
Mackay, D.J.G.1
Boonen, S.E.2
Clayton-Smith, J.3
Goodship, J.4
Hahnemann, J.M.D.5
Kant, S.G.6
Njolstad, P.R.7
Robin, N.H.8
Robinson, D.O.9
Siebert, R.10
Shield, J.P.H.11
White, H.E.12
Temple, I.K.13
-
19
-
-
48349092985
-
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
-
D.J. Mackay, J.L. Callaway, and S.M. Marks Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 Nature Genetics 40 2008 949 951
-
(2008)
Nature Genetics
, vol.40
, pp. 949-951
-
-
MacKay, D.J.1
Callaway, J.L.2
Marks, S.M.3
-
20
-
-
33646513278
-
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype
-
S.E. Flanagan, E.L. Edghill, and A.L. Gloyn Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype Diabetologia 49 2006 1190 1197
-
(2006)
Diabetologia
, vol.49
, pp. 1190-1197
-
-
Flanagan, S.E.1
Edghill, E.L.2
Gloyn, A.L.3
-
21
-
-
34249658527
-
New ABCC8 mutations in relapsing neonatal diabetes and clinical features
-
DOI 10.2337/db06-1540
-
M. Vaxillaire, A. Dechaume, and K. Busiah New ABCC8 mutations in relapsing neonatal diabetes and clinical features Diabetes 56 2007 1737 1741 (Pubitemid 46842623)
-
(2007)
Diabetes
, vol.56
, Issue.6
, pp. 1737-1741
-
-
Vaxillaire, M.1
Dechaume, A.2
Busiah, K.3
Cave, H.4
Pereira, S.5
Scharfmann, R.6
De Nanclares, G.P.7
Castano, L.8
Froguel, P.9
Polak, M.10
Dundar, B.11
Fernandez, C.12
Fernandez-Rebollo, E.13
Gonthier, M.14
Lechuga, J.L.15
Metz, C.16
Giroux, B.17
Soskin, S.18
Stuckens, C.19
Sulmont, V.20
Tubiana-Rufi, N.21
more..
-
22
-
-
33645322386
-
KATP channels as molecular sensors of cellular metabolism
-
C.G. Nichols KATP channels as molecular sensors of cellular metabolism Nature 440 2006 470 476
-
(2006)
Nature
, vol.440
, pp. 470-476
-
-
Nichols, C.G.1
-
23
-
-
20644464193
-
ATP channels
-
DOI 10.2174/1381612054546879
-
J. Bryan, A. Crane, and W. Vila-Carriles Insulin secretagogues, sulfonylurea receptors and K(ATP) channels Current Pharmaceutical Design 11 2005 2699 2716 (Pubitemid 41051879)
-
(2005)
Current Pharmaceutical Design
, vol.11
, Issue.21
, pp. 2699-2716
-
-
Bryan, J.1
Crane, A.2
Vila-Carriles, W.H.3
Babenko, A.P.4
Aguilar-Bryan, L.5
-
25
-
-
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
-
A.T. Hattersley, and F.M. Ashcroft Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy Diabetes 54 2005 2503 2513 (Pubitemid 41233571)
-
(2005)
Diabetes
, vol.54
, Issue.9
, pp. 2503-2513
-
-
Hattersley, A.T.1
Ashcroft, F.M.2
-
26
-
-
33745288813
-
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
-
DOI 10.1038/sj.ejhg.5201629, PII 5201629
-
A.L. Gloyn, C. Diatloff-Zito, and E.L. Edghill KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features European Journal Human Genetics 14 2006 824 830 (Pubitemid 43923367)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.7
, pp. 824-830
-
-
Gloyn, A.L.1
Diatloff-Zito, C.2
Edghill, E.L.3
Bellanne-Chantelot, C.4
Nivot, S.5
Coutant, R.6
Ellard, S.7
Hattersley, A.T.8
Robert, J.J.9
-
27
-
-
34548385670
-
Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome
-
DOI 10.1093/hmg/ddm149
-
P. Proks, K. Shimomura, and T.J. Craig Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome Human Molecular Genetics 16 2007 2011 2019 (Pubitemid 47354884)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.16
, pp. 2011-2019
-
-
Proks, P.1
Shimomura, K.2
Craig, T.J.3
Girard, C.A.J.4
Ashcroft, F.M.5
-
29
-
-
77954840889
-
Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin
-
R.H. Clark, J.S. McTaggart, and R. Webster Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin Science 329 2010 458 461
-
(2010)
Science
, vol.329
, pp. 458-461
-
-
Clark, R.H.1
McTaggart, J.S.2
Webster, R.3
-
30
-
-
33746686369
-
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
-
DOI 10.1056/NEJMoa061759
-
E.R. Pearson, I. Flechtner, and P.R. Njolstad Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations The New England Journal of Medicine 355 2006 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
-
31
-
-
40049100688
-
Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation
-
DOI 10.1111/j.1464-5491.2007.02373.x
-
A.S. Slingerland, W. Hurkx, and K. Noordam Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation Diabetic Medicine 25 2008 277 281 (Pubitemid 351322710)
-
(2008)
Diabetic Medicine
, vol.25
, Issue.3
, pp. 277-281
-
-
Slingerland, A.S.1
Hurkx, W.2
Noordam, K.3
Flanagan, S.E.4
Jukema, J.W.5
Meiners, L.C.6
Bruining, G.J.7
Hattersley, A.T.8
Hadders-Algra, M.9
-
32
-
-
80054097981
-
No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes
-
D. Iafusco, C. Bizzarri, and F. Cadario No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes Diabetologia 54 2011 2736 2738
-
(2011)
Diabetologia
, vol.54
, pp. 2736-2738
-
-
Iafusco, D.1
Bizzarri, C.2
Cadario, F.3
-
33
-
-
77954442715
-
Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr old boy with neonatal diabetes mellitus and intermediate DEND syndrome: Extending the age of KCNJ11 mutation testing in neonatal DM
-
A. Mohamadi, L.M. Clark, and P.H. Lipkin Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM Pediatric Diabetes 11 2010 203 207
-
(2010)
Pediatric Diabetes
, vol.11
, pp. 203-207
-
-
Mohamadi, A.1
Clark, L.M.2
Lipkin, P.H.3
-
34
-
-
33846008028
-
Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ1-activating mutations: Evidence for improvement in insulin sensitivity
-
DOI 10.2337/dc06-1628
-
M.T. Malecki, J. Skupien, and T. Klupa Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating mutations: evidence for improvement in insulin sensitivity Diabetes Care 30 2007 147 149 (Pubitemid 46052514)
-
(2007)
Diabetes Care
, vol.30
, Issue.1
, pp. 147-149
-
-
Malecki, M.T.1
Skupien, J.2
Klupa, T.3
Wanic, K.4
Mlynarski, W.5
Gach, A.6
Solecka, I.7
Sieradzki, J.8
-
35
-
-
84859065610
-
Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations
-
J.P. Riveline, E. Rousseau, and Y. Reznik Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations Diabetes Care 35 2010 248 251
-
(2010)
Diabetes Care
, vol.35
, pp. 248-251
-
-
Riveline, J.P.1
Rousseau, E.2
Reznik, Y.3
-
36
-
-
79956111232
-
The cost-effectiveness of personalized genetic medicine: The case of genetic testing in neonatal diabetes
-
S.A. Greeley, P.M. John, and A.N. Winn The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes Diabetes Care 34 2011 622 627
-
(2011)
Diabetes Care
, vol.34
, pp. 622-627
-
-
Greeley, S.A.1
John, P.M.2
Winn, A.N.3
-
37
-
-
35448994352
-
Insulin gene mutations as a cause of permanent neonatal diabetes
-
DOI 10.1073/pnas.0707291104
-
J. Stoy, E.L. Edghill, and S.E. Flanagan Insulin gene mutations as a cause of permanent neonatal diabetes Proceedings of National Academic Sciences of the United States of America 104 2007 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
-
38
-
-
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
-
M. Polak, A. Dechaume, and H. Cavé 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 Diabetes 57 2008 1115 1119
-
(2008)
Diabetes
, vol.57
, pp. 1115-1119
-
-
Polak, M.1
Dechaume, A.2
Cavé, H.3
-
39
-
-
78650581726
-
Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene
-
J. Stoy, D.F. Steiner, and S.Y. Park Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene Reviews in Endocrinology and Metabolic Disorder 11 2010 205 215
-
(2010)
Reviews in Endocrinology and Metabolic Disorder
, vol.11
, pp. 205-215
-
-
Stoy, J.1
Steiner, D.F.2
Park, S.Y.3
-
40
-
-
42449127920
-
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes
-
A. Molven, M. Ringdal, and A.M. Nordbø Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes Diabetes 57 2008 1131 1135
-
(2008)
Diabetes
, vol.57
, pp. 1131-1135
-
-
Molven, A.1
Ringdal, M.2
Nordbø, A.M.3
-
41
-
-
77950348445
-
Insulin gene mutations resulting in early-onset diabetes: Marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention
-
G. Meur, A. Simon, and N. Harun Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention Diabetes 59 2010 653 661
-
(2010)
Diabetes
, vol.59
, pp. 653-661
-
-
Meur, G.1
Simon, A.2
Harun, N.3
-
42
-
-
77949449300
-
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)
-
T.W. Boesgaard, S. Pruhova, and E.A. Andersson Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY) BMC Medical Genetics 11 2010 42 45
-
(2010)
BMC Medical Genetics
, vol.11
, pp. 42-45
-
-
Boesgaard, T.W.1
Pruhova, S.2
Andersson, E.A.3
-
43
-
-
35648957233
-
Proinsulin maturation, misfolding, and proteotoxicity
-
DOI 10.1073/pnas.0702697104
-
M. Liu, I. Hodish, and C.J. Rhodes Proinsulin maturation, misfolding, and proteotoxicity Proceedings of National Academic Sciences of the United States of America 104 2007 15841 15846 (Pubitemid 350035386)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.40
, pp. 15841-15846
-
-
Liu, M.1
Hodish, I.2
Rhodes, C.J.3
Arvan, P.4
-
45
-
-
0032918044
-
A mutation in the insulin 2 gene induces diabetes with severe pancreatic β-cell dysfunction in the Mody mouse
-
J. Wang, T. Takeuchi, and S. Tanaka A mutation in the insulin 2 gene induces diabetes with severe pancreatic beta-cell dysfunction in the Mody mouse Journal of Clinical Investigation 103 1999 27 37 (Pubitemid 29031160)
-
(1999)
Journal of Clinical Investigation
, vol.103
, Issue.1
, pp. 27-37
-
-
Wang, J.1
Takeuchi, T.2
Tanaka, S.3
Kubo, S.-K.4
Kayo, T.5
Lu, D.6
Takata, K.7
Koizumi, A.8
Izumi, T.9
-
46
-
-
80051527724
-
Disruption of a novel KLF-p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus
-
A. Bonnefond, G. Lomberk, and N. Buttar Disruption of a novel KLF-p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus The Journal of Biology Chemistry 286 2011 28414 28424
-
(2011)
The Journal of Biology Chemistry
, vol.286
, pp. 28414-28424
-
-
Bonnefond, A.1
Lomberk, G.2
Buttar, N.3
-
47
-
-
20144389645
-
Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function
-
DOI 10.1073/pnas.0409177102
-
B. Neve, M.E. Fernandez-Zapico, and V. Ashkenazi-Katalan Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function Proceedings of National Academic Sciences of the United States of America 102 2005 4807 4812 (Pubitemid 40471535)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.13
, pp. 4807-4812
-
-
Neve, B.1
Fernandez-Zapico, M.E.2
Ashkenazi-Katalan, V.3
Dina, C.4
Hamid, Y.H.5
Joly, E.6
Vaillant, E.7
Benmezroua, Y.8
Durand, E.9
Bakaher, N.10
Delannoy, V.11
Vaxillaire, M.12
Cook, T.13
Dallinga-Thie, G.M.14
Jansen, H.15
Charles, M.-A.16
Clement, K.17
Galan, P.18
Hercberg, S.19
Helbecque, N.20
Charpentier, G.21
Prentki, M.22
Hansen, T.23
Pedersen, O.24
Urrutia, R.25
Melloul, D.26
Froguel, P.27
more..
-
48
-
-
79957607662
-
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
-
K.S. Small, A.K. Hedman, and E. Grundberg Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes Nature Genetics 43 2011 561 564
-
(2011)
Nature Genetics
, vol.43
, pp. 561-564
-
-
Small, K.S.1
Hedman, A.K.2
Grundberg, E.3
-
49
-
-
78149439208
-
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome
-
A. Bonnefond, E. Durand, and O. Sand Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome PLoS One 5 2010 e13630
-
(2010)
PLoS One
, vol.5
, pp. 13630
-
-
Bonnefond, A.1
Durand, E.2
Sand, O.3
-
50
-
-
80955170054
-
MODY: History, genetics, pathophysiology, and clinical decision making
-
S.S. Fajans, and G.I. Bell MODY: history, genetics, pathophysiology, and clinical decision making Diabetes Care 34 2011 1878 1884
-
(2011)
Diabetes Care
, vol.34
, pp. 1878-1884
-
-
Fajans, S.S.1
Bell, G.I.2
-
51
-
-
43549084587
-
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes
-
DOI 10.1210/er.2007-0024
-
M. Vaxillaire, and P. Froguel Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes Endocrine Reviews 29 2008 254 264 (Pubitemid 351679698)
-
(2008)
Endocrine Reviews
, vol.29
, Issue.3
, pp. 254-264
-
-
Vaxillaire, M.1
Froguel, P.2
-
52
-
-
41149084500
-
Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
-
DOI 10.1038/ncpendmet0778, PII NCPENDMET0778
-
R. Murphy, S. Ellard, and A.T. Hattersley Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes National Clinical Practice. Endocrinology & Metabolism 4 2008 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
-
53
-
-
78649322855
-
Maturity-onset diabetes of the young (MODY): How many cases are we missing?
-
B.M. Shields, S. Hicks, and M.H. Shepherd Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53 2010 2504 2508
-
(2010)
Diabetologia
, vol.53
, pp. 2504-2508
-
-
Shields, B.M.1
Hicks, S.2
Shepherd, M.H.3
-
54
-
-
0027472126
-
Familial hyperglycemia due to mutations in glucokinase - Definition of a subtype of diabetes mellitus
-
DOI 10.1056/NEJM199303113281005
-
P. Froguel, H. Zouali, and N. Vionnet Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus The New England Journal of Medicine 328 1993 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
-
55
-
-
70350741368
-
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
-
K.K. Osbak, K. Colclough, and C. Saint-Martin Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia Human Mutation 30 2009 1512 1526
-
(2009)
Human Mutation
, vol.30
, pp. 1512-1526
-
-
Osbak, K.K.1
Colclough, K.2
Saint-Martin, C.3
-
56
-
-
0026754672
-
Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young
-
G. Velho, P. Froguel, and K. Clement Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young Lancet 340 1992 444 448
-
(1992)
Lancet
, vol.340
, pp. 444-448
-
-
Velho, G.1
Froguel, P.2
Clement, K.3
-
57
-
-
0028353674
-
Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations
-
M.M. Byrne, J. Sturis, and K. Clement Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations Journal of Clinical Investigation 93 1994 1120 1130 (Pubitemid 24087166)
-
(1994)
Journal of Clinical Investigation
, vol.93
, Issue.3
, pp. 1120-1130
-
-
Byrne, M.M.1
Sturis, J.2
Clement, K.3
Vionnet, N.4
Pueyo, M.E.5
Stoffel, M.6
Takeda, J.7
Passa, P.8
Cohen, D.9
Bell, G.I.10
Velho, G.11
Froguel, P.12
Polonsky, K.S.13
-
58
-
-
0029864561
-
Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects
-
G. Velho, K.F. Petersen, and G. Perseghin Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects Journal of Clinical Investigation 98 1996 1755 1761 (Pubitemid 26359191)
-
(1996)
Journal of Clinical Investigation
, vol.98
, Issue.8
, pp. 1755-1761
-
-
Velho, G.1
Petersen, K.F.2
Perseghin, G.3
Hwang, J.-H.4
Rothman, D.L.5
Pueyo, M.E.6
Cline, G.W.7
Froguel, P.8
Shulman, G.I.9
-
59
-
-
0033842777
-
Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity
-
DOI 10.1007/s001250051490
-
G. Velho, A.T. Hattersley, and P. Froguel Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity Diabetologia 43 2000 1060 1063 (Pubitemid 30655727)
-
(2000)
Diabetologia
, vol.43
, Issue.8
, pp. 1060-1063
-
-
Velho, G.1
Hattersley, A.T.2
Froguel, P.3
-
60
-
-
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
-
S. Ellard, and K. Colclough 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 Human Mutatation 27 2006 854 869 (Pubitemid 44336935)
-
(2006)
Human Mutation
, vol.27
, Issue.9
, pp. 854-869
-
-
Ellard, S.1
Colclough, K.2
-
61
-
-
38449088965
-
Distinct roles of HNF1 beta, HNF1 alpha, and HNF4 alpha in regulating pancreas development, beta-cell function and growth
-
M.A. Maestro, C. Cardalda, and S.F. Boj Distinct roles of HNF1 beta, HNF1 alpha, and HNF4 alpha in regulating pancreas development, beta-cell function and growth Endocrine Development 12 2007 33 45
-
(2007)
Endocrine Development
, vol.12
, pp. 33-45
-
-
Maestro, M.A.1
Cardalda, C.2
Boj, S.F.3
-
62
-
-
34247500820
-
Macrosomia and Hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene
-
E.R. Pearson, S.F. Boj, and A.M. Steele Macrosomia and Hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene PLoS Medicine 4 2007 e118
-
(2007)
PLoS Medicine
, vol.4
, pp. 118
-
-
Pearson, E.R.1
Boj, S.F.2
Steele, A.M.3
-
64
-
-
53049106731
-
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes
-
C.P. Thomas, J.C. Erlandson, and E.L. Edghill A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes Kidney International 74 2008 1094 1099
-
(2008)
Kidney International
, vol.74
, pp. 1094-1099
-
-
Thomas, C.P.1
Erlandson, J.C.2
Edghill, E.L.3
-
65
-
-
30744476739
-
Mutations in hepatocyte nuclear factor-1β and their related phenotypes
-
DOI 10.1136/jmg.2005.032854
-
E.L. Edghill, C. Bingham, and S. Ellard Mutations in hepatocyte nuclear factor-1beta and their related phenotypes Journal of Medical Genetics 43 2006 84 90 (Pubitemid 43099997)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.1
, pp. 84-90
-
-
Edghill, E.L.1
Bingham, C.2
Ellard, S.3
Hattersley, A.T.4
-
66
-
-
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
-
C. Bellanne-Chantelot, S. Clauin, and D. Chauveau Large genomic rearrangements in the hepatocyte nuclear factor-1{beta} (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5 Diabetes 54 2005 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..
-
67
-
-
2942666206
-
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1β gene due to germline mosaicism
-
DOI 10.1210/jc.2003-031828
-
T. Yorifuji, K. Kurokawa, and M. Mamada Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism Journal of Clinical Endocrinology and Metabolism 89 2004 2905 2908 (Pubitemid 38766383)
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, Issue.6
, pp. 2905-2908
-
-
Yorifuji, T.1
Kurokawa, K.2
Mamada, M.3
Imai, T.4
Kawai, M.5
Nishi, Y.6
Shishido, S.7
Hasegawa, Y.8
Nakahata, T.9
-
68
-
-
33751206505
-
Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: Support for a critical role of HNF-1β in human pancreatic development
-
DOI 10.1111/j.1464-5491.2006.01999.x
-
E.L. Edghill, C. Bingham, and A.S. Slingerland Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development Diabetic Medicine 23 2006 1301 1306 (Pubitemid 44787792)
-
(2006)
Diabetic Medicine
, vol.23
, Issue.12
, pp. 1301-1306
-
-
Edghill, E.L.1
Bingham, C.2
Slingerland, A.S.3
Minton, J.A.L.4
Noordam, C.5
Ellard, S.6
Hattersley, A.T.7
-
69
-
-
0031253820
-
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1
-
D.A. Stoffers, J. Ferrer, and W.L. Clarke Early-onset type-II diabetes mellitus (MODY4) linked to IPF1 Nature Genetics 17 1997 138 139
-
(1997)
Nature Genetics
, vol.17
, pp. 138-139
-
-
Stoffers, D.A.1
Ferrer, J.2
Clarke, W.L.3
-
70
-
-
77956373682
-
Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities
-
O. Rubio-Cabezas, J.A.L. Minton, and I. Kantor Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities Diabetes 59 2010 2326 2331
-
(2010)
Diabetes
, vol.59
, pp. 2326-2331
-
-
Rubio-Cabezas, O.1
Minton, J.A.L.2
Kantor, I.3
-
71
-
-
41149139275
-
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
-
S. Ellard, C. Bellanné-Chantelot, and A.T. Hattersley Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young Diabetologia 51 2008 546 553
-
(2008)
Diabetologia
, vol.51
, pp. 546-553
-
-
Ellard, S.1
Bellanné-Chantelot, C.2
Hattersley, A.T.3
-
72
-
-
0036210337
-
The genetic abnormality in the beta cell determines the response to an oral glucose load
-
DOI 10.1007/s00125-001-0770-9
-
A. Stride, M. Vaxillaire, and T. Tuomi The genetic abnormality in the beta cell determines the response to an oral glucose load Diabetologia 45 2002 427 435 (Pubitemid 34267366)
-
(2002)
Diabetologia
, vol.45
, Issue.3
, pp. 427-435
-
-
Stride, A.1
Vaxillaire, M.2
Tuomi, T.3
Barbetti, F.4
Njolstad, P.R.5
Hansen, T.6
Costa, A.7
Conget, I.8
Pedersen, O.9
Sovik, O.10
Lorini, R.11
Groop, L.12
Froguel, P.13
Hattersley, A.T.14
-
73
-
-
49649103147
-
Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2)
-
D. Martin, C. Bellanné-Chantelot, and I. Deschamps Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2) Diabetes Care 31 2008 1321 1323
-
(2008)
Diabetes Care
, vol.31
, pp. 1321-1323
-
-
Martin, D.1
Bellanné-Chantelot, C.2
Deschamps, I.3
-
74
-
-
0142186278
-
Genetic cause of hyperglycaemia and response to treatment in diabetes
-
DOI 10.1016/S0140-6736(03)14571-0
-
E.R. Pearson, B.J. Starkey, and R.J. Powell Genetic cause of hyperglycaemia and response to treatment in diabetes Lancet 362 2003 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
-
75
-
-
0242363725
-
No Deterioration in Glycemic Control in HNF-1 α Maturity-Onset Diabetes of the Young Following Transfer From Long-Term Insulin to Sulphonylureas [6]
-
DOI 10.2337/diacare.26.11.3191
-
M. Shepherd, E.R. Pearson, and J. Houghton No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas Diabetes Care 26 2003 3191 3192 (Pubitemid 37339526)
-
(2003)
Diabetes Care
, vol.26
, Issue.11
, pp. 3191-3192
-
-
Shepherd, M.1
Pearson, E.R.2
Houghton, J.3
Salt, G.4
Ellard, S.5
Hattersley, A.T.6
-
76
-
-
33745043238
-
Small molecule glucokinase activators as glucose lowering agents: A new paradigm for diabetes therapy
-
DOI 10.2174/092986706777452551
-
K.R. Guertin, and J. Grimsby Small molecule glucokinase activators as glucose lowering agents: a new paradigm for diabetes therapy Current Medicinal Chemistry 13 2006 1839 1843 (Pubitemid 43871760)
-
(2006)
Current Medicinal Chemistry
, vol.13
, Issue.15
, pp. 1839-1843
-
-
Guertin, K.R.1
Grimsby, J.2
-
77
-
-
42749083781
-
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1α are associated with C-reactive protein
-
A.P. Reiner, M.J. Barber, and Y. Guan Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1α are associated with C-reactive protein American Journal of Human Genetics 82 2008 1193 1201
-
(2008)
American Journal of Human Genetics
, vol.82
, pp. 1193-1201
-
-
Reiner, A.P.1
Barber, M.J.2
Guan, Y.3
-
78
-
-
78649810544
-
Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations
-
K.R. Owen, G. Thanabalasingham, and T.J. James Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations Diabetes Care 33 2010 1919 1924
-
(2010)
Diabetes Care
, vol.33
, pp. 1919-1924
-
-
Owen, K.R.1
Thanabalasingham, G.2
James, T.J.3
-
79
-
-
80054692207
-
A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes
-
G. Thanabalasingham, N. Shah, and M. Vaxillaire A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes Diabetologia 54 2011 2801 2810
-
(2011)
Diabetologia
, vol.54
, pp. 2801-2810
-
-
Thanabalasingham, G.1
Shah, N.2
Vaxillaire, M.3
-
80
-
-
79951709597
-
Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes
-
R.E. Besser, M.H. Shepherd, and T.J. McDonald Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes Diabetes Care 34 2011 286 291
-
(2011)
Diabetes Care
, vol.34
, pp. 286-291
-
-
Besser, R.E.1
Shepherd, M.H.2
McDonald, T.J.3
-
82
-
-
48249151437
-
A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults
-
A.I. Tarasov, T.J. Nicolson, and J.P. Riveline A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults Diabetes 57 2008 1595 1604
-
(2008)
Diabetes
, vol.57
, pp. 1595-1604
-
-
Tarasov, A.I.1
Nicolson, T.J.2
Riveline, J.P.3
-
83
-
-
67349088441
-
Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes
-
A. Hartemann-Heurtier, A. Simon, and C. Bellanne-Chantelot Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes Diabetes Metabolism 35 2009 233 235
-
(2009)
Diabetes Metabolism
, vol.35
, pp. 233-235
-
-
Hartemann-Heurtier, A.1
Simon, A.2
Bellanne-Chantelot, C.3
-
84
-
-
0037464795
-
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1
-
DOI 10.1016/S0140-6736(03)12325-2
-
H. Huopio, T. Otonkoski, and I. Vauhkonen A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1 Lancet 361 2003 301 307 (Pubitemid 36126191)
-
(2003)
Lancet
, vol.361
, Issue.9354
, pp. 301-307
-
-
Huopio, H.1
Otonkoski, T.2
Vauhkonen, I.3
Reimann, F.4
Ashcroft, F.M.5
Laakso, M.6
-
85
-
-
34347387276
-
+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
-
DOI 10.2337/db07-0043
-
S.E. Flanagan, A.M. Patch, and D.J. Mackay Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood Diabetes 56 2007 1930 1937 (Pubitemid 47025462)
-
(2007)
Diabetes
, vol.56
, Issue.7
, pp. 1930-1937
-
-
Flanagan, S.E.1
Patch, A.-M.2
Mackay, D.J.G.3
Edghill, E.L.4
Gloyn, A.L.5
Robinson, D.6
Shield, J.P.H.7
Temple, K.8
Ellard, S.9
Hattersley, A.T.10
-
86
-
-
68949220477
-
Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype
-
T. Klupa, I. Kowalska, and K. Wyka Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype Clinical Endocrinology 71 2009 358 362
-
(2009)
Clinical Endocrinology
, vol.71
, pp. 358-362
-
-
Klupa, T.1
Kowalska, I.2
Wyka, K.3
-
87
-
-
21244487124
-
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus
-
DOI 10.1210/jc.2005-0096
-
T. Yorifuji, K. Nagashima, and K. Kurokawa The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus Journal of Clinical Endocrinology and Metabolism 90 2005 3174 3178 (Pubitemid 41014271)
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, Issue.6
, pp. 3174-3178
-
-
Yorifuji, T.1
Nagashima, K.2
Kurokawa, K.3
Kawai, M.4
Oishi, M.5
Akazawa, Y.6
Hosokawa, M.7
Yamada, Y.8
Inagaki, N.9
Nakahata, T.10
-
88
-
-
34247166663
-
Sulfonylurea-Responsive Diabetes in Childhood
-
DOI 10.1016/j.jpeds.2007.03.004, PII S0022347607002399
-
Z. Landau, J. Wainstein, and A. Hanukoglu Sulfonylurea-responsive diabetes in childhood Journal of Pediatrics 150 2007 553 555 (Pubitemid 46602349)
-
(2007)
Journal of Pediatrics
, vol.150
, Issue.5
, pp. 553-555
-
-
Landau, Z.1
Wainstein, J.2
Hanukoglu, A.3
Tuval, M.4
Lavie, J.5
Glaser, B.6
-
89
-
-
0343853015
-
A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia
-
DOI 10.1073/pnas.84.8.2194
-
S.J. Chan, S. Seino, and P.A. Gruppuso A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia Proceedings of National Academic Sciences of the United States of America 84 1987 2194 2197 (Pubitemid 17075837)
-
(1987)
Proceedings of the National Academy of Sciences of the United States of America
, vol.84
, Issue.8
, pp. 2194-2197
-
-
Chan, S.J.1
Seino, S.2
Gruppuso, P.A.3
-
90
-
-
79960016921
-
Type 2 diabetes and obesity: Genomics and the clinic
-
M.E. Travers, and M.I. McCarthy Type 2 diabetes and obesity: genomics and the clinic Human Genetics 130 2011 41 58
-
(2011)
Human Genetics
, vol.130
, pp. 41-58
-
-
Travers, M.E.1
McCarthy, M.I.2
-
91
-
-
77954143522
-
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
-
B.F. Voight, L.J. Scott, and V. Steinthorsdottir Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis Nature Genetics 42 2010 579 589
-
(2010)
Nature Genetics
, vol.42
, pp. 579-589
-
-
Voight, B.F.1
Scott, L.J.2
Steinthorsdottir, V.3
-
92
-
-
33750954749
-
Common variants in HNF-1 α and risk of type 2 diabetes
-
DOI 10.1007/s00125-006-0450-x
-
J. Holmkvist, C. Cervin, and V. Lyssenko Common variants in HNF-1 alpha and risk of type 2 diabetes Diabetologia 49 2006 2882 2891 (Pubitemid 44733934)
-
(2006)
Diabetologia
, vol.49
, Issue.12
, pp. 2882-2891
-
-
Holmkvist, J.1
Cervin, C.2
Lyssenko, V.3
Winckler, W.4
Anevski, D.5
Cilio, C.6
Almgren, P.7
Berglund, G.8
Nilsson, P.9
Tuomi, T.10
Lindgren, C.M.11
Altshuler, D.12
Groop, L.13
-
93
-
-
33847361938
-
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes
-
DOI 10.2337/db06-0202
-
W. Winckler, M.N. Weedon, and R.R. Graham Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes Diabetes 56 2007 685 693 (Pubitemid 46348464)
-
(2007)
Diabetes
, vol.56
, Issue.3
, pp. 685-693
-
-
Winckler, W.1
Weedon, M.N.2
Graham, R.R.3
McCarroll, S.A.4
Purcell, S.5
Almgren, P.6
Tuomi, T.7
Gaudet, D.8
Bostrom, K.B.9
Walker, M.10
Hitman, G.11
Hattersley, A.T.12
McCarthy, M.I.13
Ardlie, K.G.14
Hirschhorn, J.N.15
Daly, M.J.16
Frayling, T.M.17
Groop, L.18
Altshuler, D.19
-
94
-
-
18344376912
-
HNF-1α G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community
-
DOI 10.1073/pnas.062059799
-
B.L. Triggs-Raine, R.D. Kirkpatrick, and S.L. Kelly HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community Proceedings of National Academic Sciences of the United States of America 99 2002 4614 4619 (Pubitemid 34286033)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.7
, pp. 4614-4619
-
-
Triggs-Raine, B.L.1
Kirkpatrick, R.D.2
Kelly, S.L.3
Norquay, L.D.4
Cattini, P.A.5
Yamagata, K.6
Hanley, A.J.G.7
Zinman, B.8
Harris, S.B.9
Barrett, P.H.10
Hegele, R.A.11
-
95
-
-
34547510624
-
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
-
DOI 10.1038/ng2062, PII NG2062
-
J. Gudmundsson, P. Sulem, and V. Steinthorsdottir Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes Nature Genetics 39 2007 977 983 (Pubitemid 47185170)
-
(2007)
Nature Genetics
, vol.39
, Issue.8
, pp. 977-983
-
-
Gudmundsson, J.1
Sulem, P.2
Steinthorsdottir, V.3
Bergthorsson, J.T.4
Thorleifsson, G.5
Manolescu, A.6
Rafnar, T.7
Gudbjartsson, D.8
Agnarsson, B.A.9
Baker, A.10
Sigurdsson, A.11
Benediktsdottir, K.R.12
Jakobsdottir, M.13
Blondal, T.14
Stacey, S.N.15
Helgason, A.16
Gunnarsdottir, S.17
Olafsdottir, A.18
Kristinsson, K.T.19
Birgisdottir, B.20
Ghosh, S.21
Thorlacius, S.22
Magnusdottir, D.23
Stefansdottir, G.24
Kristjansson, K.25
Bagger, Y.26
Wilensky, R.L.27
Reilly, M.P.28
Morris, A.D.29
Kimber, C.H.30
Adeyemo, A.31
Chen, Y.32
Zhou, J.33
So, W.-Y.34
Tong, P.C.Y.35
Ng, M.C.Y.36
Hansen, T.37
Andersen, G.38
Borch-Johnsen, K.39
Jorgensen, T.40
Tres, A.41
Fuertes, F.42
Ruiz-Echarri, M.43
Asin, L.44
Saez, B.45
Van Boven, E.46
Klaver, S.47
Swinkels, D.W.48
Aben, K.K.49
Graif, T.50
Cashy, J.51
Suarez, B.K.52
Van Vierssen Trip, O.53
Frigge, M.L.54
Ober, C.55
Hofker, M.H.56
Wijmenga, C.57
Christiansen, C.58
Rader, D.J.59
Palmer, C.N.A.60
Rotimi, C.61
Chan, J.C.N.62
Pedersen, O.63
Sigurdsson, G.64
Benediktsson, R.65
Jonsson, E.66
Einarsson, G.V.67
Mayordomo, J.I.68
Catalona, W.J.69
Kiemeney, L.A.70
Barkardottir, R.B.71
Gulcher, J.R.72
Thorsteinsdottir, U.73
Kong, A.74
Stefansson, K.75
more..
-
96
-
-
33845328853
-
A meta-analysis of diabetes mellitus and the risk of prostate cancer
-
DOI 10.1158/1055-9965.EPI-06-0410
-
J.S. Kasper, and E.A. Giovannucci Meta-analysis of diabetes mellitus and the risk of prostate cancer Cancer Epidemiology, Biomarkers & Prevention 15 2006 2056 2062 (Pubitemid 44877026)
-
(2006)
Cancer Epidemiology Biomarkers and Prevention
, vol.15
, Issue.11
, pp. 2056-2062
-
-
Kasper, J.S.1
Giovannucci, E.2
-
97
-
-
0031773333
-
+ channel gene (KIR6.2/BIR): A meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians
-
DOI 10.1007/s001250051098
-
E.H. Hani, P. Boutin, and E. Durand Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in caucasians Diabetologia 41 1998 1511 1515 (Pubitemid 28551623)
-
(1998)
Diabetologia
, vol.41
, Issue.12
, pp. 1511-1515
-
-
Hani, E.H.1
Boutin, P.2
Durand, E.3
Inoue, H.4
Permutt, M.A.5
Velho, G.6
Froguel, P.7
-
98
-
-
12944252164
-
Current status of the E23K Kir6.2 polymorphism: Implications for type-2 diabetes
-
DOI 10.1007/s00439-004-1216-5
-
M.J. Riedel, D.C. Steckley, and P.E. Light Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes Human Genetics 116 2005 133 145 (Pubitemid 40173997)
-
(2005)
Human Genetics
, vol.116
, Issue.3
, pp. 133-145
-
-
Riedel, M.J.1
Steckley, D.C.2
Light, P.E.3
-
99
-
-
0037317981
-
ATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
-
DOI 10.2337/diabetes.52.2.568
-
A.L. Gloyn, M.N. Weedon, and K.R. Owen Large scale association studies of variants in genes encoding the pancreatic beta-cell K-ATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with increased risk of Type 2 Diabetes 52 2003 568 572 (Pubitemid 36173218)
-
(2003)
Diabetes
, vol.52
, Issue.2
, pp. 568-572
-
-
Gloyn, A.L.1
Weedon, M.N.2
Owen, K.R.3
Turner, M.J.4
Knight, B.A.5
Hitman, G.6
Walker, M.7
Levy, J.C.8
Sampson, M.9
Halford, S.10
McCarthy, M.I.11
Hattersley, A.T.12
Frayling, T.M.13
-
100
-
-
2342561802
-
Haplotype Structure and Genotype-Phenotype Correlations of the Sulfonylurea Receptor and the Islet ATP-Sensitive Potassium Channel Gene Region
-
DOI 10.2337/diabetes.53.5.1360
-
J.C. Florez, N. Burtt, and P.I. de Bakker Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region Diabetes 53 2004 1360 1368 (Pubitemid 38569024)
-
(2004)
Diabetes
, vol.53
, Issue.5
, pp. 1360-1368
-
-
Florez, J.C.1
Burtt, N.2
De Bakker, P.I.W.3
Almgren, P.4
Tuomi, T.5
Holmkvist, J.6
Gaudet, D.7
Hudson, T.J.8
Schaffner, S.F.9
Daly, M.J.10
Hirschhorn, J.N.11
Groop, L.12
Altshuler, D.13
-
101
-
-
56149106823
-
Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients
-
Y. Feng, G. Mao, and X. Ren Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese type 2 diabetic patients Diabetes Care 31 2008 1939 1944
-
(2008)
Diabetes Care
, vol.31
, pp. 1939-1944
-
-
Feng, Y.1
Mao, G.2
Ren, X.3
-
102
-
-
70349648967
-
Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel
-
K.S. Hamming, D. Soliman, and L.C. Matemisz Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel Diabetes 58 2009 2419 2424
-
(2009)
Diabetes
, vol.58
, pp. 2419-2424
-
-
Hamming, K.S.1
Soliman, D.2
Matemisz, L.C.3
-
103
-
-
34547536393
-
Common variants in WFS1 confer risk of type 2 diabetes
-
DOI 10.1038/ng2067, PII NG2067
-
M.S. Sandhu, M.N. Weedon, and K.A. Fawcett Common variants in WFS1 confer risk of type 2 diabetes Nature Genetics 39 2007 951 953 (Pubitemid 47185173)
-
(2007)
Nature Genetics
, vol.39
, Issue.8
, pp. 951-953
-
-
Sandhu, M.S.1
Weedon, M.N.2
Fawcett, K.A.3
Wasson, J.4
Debenham, S.L.5
Daly, A.6
Lango, H.7
Frayling, T.M.8
Neumann, R.J.9
Sherva, R.10
Blech, I.11
Pharoah, P.D.12
Palmer, C.N.A.13
Kimber, C.14
Tavendale, R.15
Morris, A.D.16
McCarthy, M.I.17
Walker, M.18
Hitman, G.19
Glaser, B.20
Permutt, M.A.21
Hattersley, A.T.22
Wareham, N.J.23
Barroso, I.24
more..
-
104
-
-
39049146958
-
Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations
-
P.W. Franks, O. Rolandsson, and S.L. Debenham Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations Diabetologia 51 2008 458 463
-
(2008)
Diabetologia
, vol.51
, pp. 458-463
-
-
Franks, P.W.1
Rolandsson, O.2
Debenham, S.L.3
-
105
-
-
38449118682
-
Impact of common type 2 diabetes risk polymorphisms in the D.E.S.I.R. prospective study
-
M. Vaxillaire, J. Veslot, and C. Dina Impact of common type 2 diabetes risk polymorphisms in the D.E.S.I.R. prospective study Diabetes 57 2008 244 254
-
(2008)
Diabetes
, vol.57
, pp. 244-254
-
-
Vaxillaire, M.1
Veslot, J.2
Dina, C.3
-
106
-
-
33845220776
-
A common haplotype of the glucokinase gene alters fasting glucose and birth weight: Association in six studies and population-genetics analyses
-
DOI 10.1086/509517
-
M.N. Weedon, V.J. Clark, and Y. Qian A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses American Journal Human Genetics 79 2006 991 1001 (Pubitemid 44853472)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.6
, pp. 991-1001
-
-
Weedon, M.N.1
Clark, V.J.2
Qian, Y.3
Ben-Shlomo, Y.4
Timpson, N.5
Ebrahim, S.6
Lawlor, D.A.7
Pembrey, M.E.8
Ring, S.9
Wilkin, T.J.10
Voss, L.D.11
Jeffery, A.N.12
Metcalf, B.13
Ferrucci, L.14
Corsi, A.M.15
Murray, A.16
Melzer, D.17
Knight, B.18
Shields, B.19
Smith, G.D.20
Hattersley, A.T.21
Di Rienzo, A.22
Frayling, T.M.23
more..
-
107
-
-
75749086085
-
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
-
J. Dupuis, C. Langenberg, and I. Prokopenko New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Nature Genetics 42 2010 105 116
-
(2010)
Nature Genetics
, vol.42
, pp. 105-116
-
-
Dupuis, J.1
Langenberg, C.2
Prokopenko, I.3
-
108
-
-
77951858557
-
Detailed physiologic characterization reveals diverse mechanisms for novel genetic loci regulating glucose and insulin metabolism in humans
-
E. Ingelsson, C. Langenberg, and M.F. Hivert Detailed physiologic characterization reveals diverse mechanisms for novel genetic loci regulating glucose and insulin metabolism in humans Diabetes 59 2010 1266 1275
-
(2010)
Diabetes
, vol.59
, pp. 1266-1275
-
-
Ingelsson, E.1
Langenberg, C.2
Hivert, M.F.3
|