-
2
-
-
2342633204
-
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
-
Gloyn AL, Pearson ER, Antcliff JF. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004, 350:1838-1849.
-
(2004)
N Engl J Med
, vol.350
, pp. 1838-1849
-
-
Gloyn, A.L.1
Pearson, E.R.2
Antcliff, J.F.3
-
3
-
-
33847747768
-
ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children.
-
Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue K. ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. Pediatr Diabetes 2006, 7:352-360.
-
(2006)
Pediatr Diabetes
, vol.7
, pp. 352-360
-
-
Hattersley, A.1
Bruining, J.2
Shield, J.3
Njolstad, P.4
Donaghue, K.5
-
5
-
-
0036797965
-
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases.
-
Metz C, Cavé H, Bertrand AM. Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. J Pediatr 2002, 141:483-489.
-
(2002)
J Pediatr
, vol.141
, pp. 483-489
-
-
Metz, C.1
Cavé, H.2
Bertrand, A.M.3
-
6
-
-
0033860008
-
Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.
-
Temple IK, Gardner RJ, Mackay DJG, Barber JCK, Robinson DO, Shield JPH. Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. Diabetes 2000, 49:1359-1366.
-
(2000)
Diabetes
, vol.49
, 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
-
-
19944427182
-
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
-
Massa O, Iafusco D, D'Amato E. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mut 2005, 25:22-27.
-
(2005)
Hum Mut
, vol.25
, pp. 22-27
-
-
Massa, O.1
Iafusco, D.2
D'Amato, E.3
-
8
-
-
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.
-
Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. 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 2006, 49:1190-1197.
-
(2006)
Diabetologia
, vol.49
, pp. 1190-1197
-
-
Flanagan, S.E.1
Edghill, E.L.2
Gloyn, A.L.3
Ellard, S.4
Hattersley, A.T.5
-
9
-
-
34147167267
-
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.
-
doi:10.1210/jc.2006-2490
-
Stanik J, Gasperikova D, Paskova M. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrin Metab 2007, doi:10.1210/jc.2006-2490
-
(2007)
J Clin Endocrin Metab
-
-
Stanik, J.1
Gasperikova, D.2
Paskova, M.3
-
10
-
-
34347350250
-
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.
-
Rica I, Luzuriaga C, Pérez de Nanclares G. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities. Diabet Med 2007, 24:707-713.
-
(2007)
Diabet Med
, vol.24
, pp. 707-713
-
-
Rica, I.1
Luzuriaga, C.2
Pérez de Nanclares, G.3
-
11
-
-
20244368494
-
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
-
Gloyn AL, Reimann F, Girard C. Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet 2005, 14:925-934.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 925-934
-
-
Gloyn, A.L.1
Reimann, F.2
Girard, C.3
-
12
-
-
33746778878
-
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
-
Babenko AP, Polak M, Cavé H. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006, 355:456-466.
-
(2006)
N Engl J Med
, vol.355
, pp. 456-466
-
-
Babenko, A.P.1
Polak, M.2
Cavé, H.3
-
13
-
-
0018391625
-
Congenital absence of the pancreas and intrauterine growth retardation.
-
Lemons JA, Ridenour R, Orsini EN. Congenital absence of the pancreas and intrauterine growth retardation. Pediatrics 1979, 64:255-256.
-
(1979)
Pediatrics
, vol.64
, pp. 255-256
-
-
Lemons, J.A.1
Ridenour, R.2
Orsini, E.N.3
-
14
-
-
0019220102
-
Long-term survival in a case of functional pancreatic agenesis.
-
Howard CP, Go VLW, Infante AJ. Long-term survival in a case of functional pancreatic agenesis. J Pediatr 1980, 97:786-789.
-
(1980)
J Pediatr
, vol.97
, pp. 786-789
-
-
Howard, C.P.1
Go, V.L.W.2
Infante, A.J.3
-
15
-
-
0031031571
-
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence [letter].
-
Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence [letter]. Nat Genet 1997, 15:106-110.
-
(1997)
Nat Genet
, vol.15
, pp. 106-110
-
-
Stoffers, D.A.1
Zinkin, N.T.2
Stanojevic, V.3
Clarke, W.L.4
Habener, J.F.5
-
16
-
-
17744398008
-
Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis.
-
Verwest AM, Poelman M, Dinjens WNM. Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis. Virchows Arch 2000, 437:680-684.
-
(2000)
Virchows Arch
, vol.437
, pp. 680-684
-
-
Verwest, A.M.1
Poelman, M.2
Dinjens, W.N.M.3
-
17
-
-
0141787919
-
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.
-
Schwitzgebel VM, Mamin A, Brun T. Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. J Clin Endocrinol Metab 2003, 88:4398-4406.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4398-4406
-
-
Schwitzgebel, V.M.1
Mamin, A.2
Brun, T.3
-
18
-
-
9644255692
-
Mutations in PTF1A cause pancreatic and cerebellar agenesis.
-
doi:10.1038/ng1475
-
Sellick GS, Barker KT, Stolte-Dijkstra I. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet 2004, 36:1301-1305. doi:10.1038/ng1475
-
(2004)
Nat Genet
, vol.36
, pp. 1301-1305
-
-
Sellick, G.S.1
Barker, K.T.2
Stolte-Dijkstra, I.3
-
20
-
-
29544452974
-
Unusual case of neonatal diabetes mellitus due to congenital pancreas agenesis.
-
Ashraf A, Abdullatif H, Hardin W, Moates JM. Unusual case of neonatal diabetes mellitus due to congenital pancreas agenesis. Pediatr Diabetes 2005, 6:239-243.
-
(2005)
Pediatr Diabetes
, vol.6
, pp. 239-243
-
-
Ashraf, A.1
Abdullatif, H.2
Hardin, W.3
Moates, J.M.4
-
21
-
-
48949102448
-
Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature.
-
Chen R, Hussain K, Al-Ali M. Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature. Pediatrics 2008, 121:e1541-e1547.
-
(2008)
Pediatrics
, vol.121
-
-
Chen, R.1
Hussain, K.2
Al-Ali, M.3
-
22
-
-
19944431807
-
Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.
-
Mitchell J, Punthakee Z, Lo B. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Diabetologia 2004, 47:2160-2167.
-
(2004)
Diabetologia
, vol.47
, pp. 2160-2167
-
-
Mitchell, J.1
Punthakee, Z.2
Lo, B.3
-
23
-
-
10744222821
-
Permanent neonatal diabetes caused by glucokinase deficiency. Inborn error of the glucose-insulin signalling pathway.
-
Njølstad PR, Sagen JV, Bjørkhaug L. Permanent neonatal diabetes caused by glucokinase deficiency. Inborn error of the glucose-insulin signalling pathway. Diabetes 2003, 52:2854-2860.
-
(2003)
Diabetes
, vol.52
, pp. 2854-2860
-
-
Njølstad, P.R.1
Sagen, J.V.2
Bjørkhaug, L.3
-
24
-
-
0036346861
-
Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
-
doi. 10.1136/jmg.39.8.537
-
Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 2002, 39:537-545. doi. 10.1136/jmg.39.8.537
-
(2002)
J Med Genet
, vol.39
, pp. 537-545
-
-
Wildin, R.S.1
Smyk-Pearson, S.2
Filipovich, A.H.3
-
25
-
-
0034425698
-
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome [letter].
-
Delépine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C. EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome [letter]. Nat Genet 2000, 25:406-409.
-
(2000)
Nat Genet
, vol.25
, pp. 406-409
-
-
Delépine, M.1
Nicolino, M.2
Barrett, T.3
Golamaully, M.4
Lathrop, G.M.5
Julier, C.6
-
26
-
-
3042696843
-
Wolcott-Rallison syndrome. Clinical, genetic and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.
-
Senée V, Vattem KM, Delépine M. Wolcott-Rallison syndrome. Clinical, genetic and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes 2004, 53:1876-1883.
-
(2004)
Diabetes
, vol.53
, pp. 1876-1883
-
-
Senée, V.1
Vattem, K.M.2
Delépine, M.3
-
27
-
-
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.
-
Yorifuji T, Kurokawa K, Mamada M. 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. J Clin Endocrinol Metab 2004, 89:2905-2908.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 2905-2908
-
-
Yorifuji, T.1
Kurokawa, K.2
Mamada, M.3
-
28
-
-
33747882568
-
Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1β/MODY5 mutations [abstract].
-
Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1β/MODY5 mutations [abstract]. Hum Mol Genet 2006, 15:2363-2375.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2363-2375
-
-
Haumaitre, C.1
Fabre, M.2
Cormier, S.3
Baumann, C.4
Delezoide, A.L.5
Cereghini, S.6
-
29
-
-
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.
-
Edghill EL, Bingham C, Slingerland AS. 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. Diabet Med 2006, 23:1301-1306.
-
(2006)
Diabet Med
, vol.23
, pp. 1301-1306
-
-
Edghill, E.L.1
Bingham, C.2
Slingerland, A.S.3
-
30
-
-
33745268851
-
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism [abstract].
-
Senée V, Chelala C, Duchatelet S. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism [abstract]. Nat Genet 2006, 38:682-687.
-
(2006)
Nat Genet
, vol.38
, pp. 682-687
-
-
Senée, V.1
Chelala, C.2
Duchatelet, S.3
-
31
-
-
33847356943
-
Neonatal diabetes: how research unravelling the genetic puzzle has both widened our understanding of pancreatic development whilst improving children's quality of life.
-
doi:10.1159/000096354
-
Shield JPH. Neonatal diabetes: how research unravelling the genetic puzzle has both widened our understanding of pancreatic development whilst improving children's quality of life. Horm Res 2007, 67:77-83. doi:10.1159/000096354
-
(2007)
Horm Res
, vol.67
, pp. 77-83
-
-
Shield, J.P.H.1
-
32
-
-
33746681908
-
ATP-sensitive potassium channels-neonatal diabetes mellitus and beyond [editorials].
-
Sperling MA. ATP-sensitive potassium channels-neonatal diabetes mellitus and beyond [editorials]. N Engl J Med 2006, 355:507-510.
-
(2006)
N Engl J Med
, vol.355
, pp. 507-510
-
-
Sperling, M.A.1
-
33
-
-
33745778040
-
Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes.
-
Slingerland AS, Hattersley AT. Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. J Clin Endocrinol Metab 2006, 91:2782-2788.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 2782-2788
-
-
Slingerland, A.S.1
Hattersley, A.T.2
-
34
-
-
0026693924
-
The role of insulin in fetal growth.
-
Fowden A. The role of insulin in fetal growth. Early Hum Dev 1992, 29:177-181.
-
(1992)
Early Hum Dev
, vol.29
, pp. 177-181
-
-
Fowden, A.1
-
35
-
-
0030902526
-
The physiology and pathophysiology of intrauterine growth retardation.
-
Gluckman PD, Harding JE. The physiology and pathophysiology of intrauterine growth retardation. Horm Res 1997, 48:11-16. (Suppl. 1):
-
(1997)
Horm Res
, vol.48
, Issue.SUPPL.1
, pp. 11-16
-
-
Gluckman, P.D.1
Harding, J.E.2
-
36
-
-
2442666735
-
Transcriptional networks controlling pancreatic development and beta cell function.
-
Servitja JM, Ferrer J. Transcriptional networks controlling pancreatic development and beta cell function. Diabetologia 2004, 47:597-613.
-
(2004)
Diabetologia
, vol.47
, pp. 597-613
-
-
Servitja, J.M.1
Ferrer, J.2
-
37
-
-
0031253820
-
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1.
-
Stoffers DA, Ferrer J, Clarke WL, Habener JF. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet 1997, 17:138-139.
-
(1997)
Nat Genet
, vol.17
, pp. 138-139
-
-
Stoffers, D.A.1
Ferrer, J.2
Clarke, W.L.3
Habener, J.F.4
-
38
-
-
0032718689
-
Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus.
-
Hani EH, Stoffers DA, Chévre JC. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus. J Clin Invest 1999, 104:R41-R48.
-
(1999)
J Clin Invest
, vol.104
-
-
Hani, E.H.1
Stoffers, D.A.2
Chévre, J.C.3
-
39
-
-
0028149890
-
Insulin promoter factor-1 is required for pancreas development in mice.
-
Jonsson J, Carlsson L, Edlund T, Edlund H. Insulin promoter factor-1 is required for pancreas development in mice. Nature 1994, 371:606-609.
-
(1994)
Nature
, vol.371
, pp. 606-609
-
-
Jonsson, J.1
Carlsson, L.2
Edlund, T.3
Edlund, H.4
-
40
-
-
13444257370
-
Lack of TCF2/vHNF1 in mice leads to pancreas agenesis.
-
doi:10.1073/pnas.0405776102
-
Haumaitre C, Barbacci E, Jenny M, Ott MO, Gradwohl G, Cereghini S. Lack of TCF2/vHNF1 in mice leads to pancreas agenesis. Proc Natl Acad Sci U S A 2005, 102:1490-1495. doi:10.1073/pnas.0405776102
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 1490-1495
-
-
Haumaitre, C.1
Barbacci, E.2
Jenny, M.3
Ott, M.O.4
Gradwohl, G.5
Cereghini, S.6
|