-
1
-
-
4043169983
-
"I don't feel like a diabetic any more:" the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing
-
Shepherd M, Hattersley A. "I don't feel like a diabetic any more:" The impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing. Clin Med. 2004;4:144-147.
-
(2004)
Clin Med
, vol.4
, pp. 144-147
-
-
Shepherd, M.1
Hattersley, A.2
-
2
-
-
0028948245
-
Is maturity onset diabetes at young age (MODY) more common in Europe than previously assumed?
-
Ledermann HM. Is maturity onset diabetes at young age (MODY) more common in Europe than previously assumed [letter]? Lancet. 1995;345:648.
-
(1995)
Lancet
, vol.345
, pp. 648
-
-
Ledermann, H.M.1
-
3
-
-
0026583193
-
Linkage of type 2 diabetes to the glucokinase gene
-
Hattersley AT, Turner RC, Permutt MA, et al. Linkage of type 2 diabetes to the glucokinase gene. Lancet. 1992;339:1307-1310.
-
(1992)
Lancet
, vol.339
, pp. 1307-1310
-
-
Hattersley, A.T.1
Turner, R.C.2
Permutt, M.A.3
-
4
-
-
10544236911
-
Mutations in the hepatocyte nuclear factor-4 alpha gene in maturity-onset diabetes of the young (MODY1)
-
Yamagata K, Furuta H, Oda N, et al. Mutations in the hepatocyte nuclear factor-4 alpha gene in maturity-onset diabetes of the young (MODY1). Nature. 1996;384:458-460.
-
(1996)
Nature
, vol.384
, pp. 458-460
-
-
Yamagata, K.1
Furuta, H.2
Oda, N.3
-
5
-
-
10544249874
-
Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3)
-
Yamagata K, Oda N, Kaisaki PJ, et al. Mutations in the hepatocyte nuclear factor-1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature. 1996;384:455-458.
-
(1996)
Nature
, vol.384
, pp. 455-458
-
-
Yamagata, K.1
Oda, N.2
Kaisaki, P.J.3
-
6
-
-
0031253820
-
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1
-
Stoffers D, Ferrer J, Clarke WL, et al. 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.1
Ferrer, J.2
Clarke, W.L.3
-
7
-
-
0031453186
-
Mutation in the hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY
-
Horikawa Y, Iwasaki Y, Hara M, et al. Mutation in the hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet. 1997;17:384-385.
-
(1997)
Nat Genet
, vol.17
, pp. 384-385
-
-
Horikawa, Y.1
Iwasaki, Y.2
Hara, M.3
-
8
-
-
0032700272
-
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus
-
Malecki MT, Jhala US, Antonelli SA, et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet.1999;23:323-328.
-
(1999)
Nat Genet
, vol.23
, pp. 323-328
-
-
Malecki, M.T.1
Jhala, U.S.2
Antonelli, S.A.3
-
9
-
-
14444278300
-
Mutations in the hepatocyte nuclear factor-1 alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
-
Frayling TM, Bulamn MP, Ellard S, et al. Mutations in the hepatocyte nuclear factor-1 alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes. 1997;46:720-725.
-
(1997)
Diabetes
, vol.46
, pp. 720-725
-
-
Frayling, T.M.1
Bulamn, M.P.2
Ellard, S.3
-
10
-
-
0035122350
-
Beta-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations
-
Pearson ER, Velho G, Clark P, et al. Beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations. Diabetes. 2001;50(suppl 1):S101-S107.
-
(2001)
Diabetes
, vol.50
, Issue.1 SUPPL.
-
-
Pearson, E.R.1
Velho, G.2
Clark, P.3
-
11
-
-
0035166810
-
Mutations in the hepatocyte nuclear factor 1-beta gene are associated with familial hypoplastic glomerulocystic kidney disease
-
Bingham C, Bulman MP, Ellard S, et al. Mutations in the hepatocyte nuclear factor 1-beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet. 2001;68:219-224.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 219-224
-
-
Bingham, C.1
Bulman, M.P.2
Ellard, S.3
-
12
-
-
4544332211
-
Spectrum of HNF-1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY)
-
McKinney J, Cao H, Robinson JF, et al. Spectrum of HNF-1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY). Clin Invest Med. 2004;27:135-141.
-
(2004)
Clin Invest Med
, vol.27
, pp. 135-141
-
-
McKinney, J.1
Cao, H.2
Robinson, J.F.3
-
13
-
-
0027358380
-
Glucokinase as pancreatic beta cell glucose sensor and diabetes gene
-
Matschinsky F, Liang Y, Kesavan P, et al. Glucokinase as pancreatic beta cell glucose sensor and diabetes gene. J Clin Invest. 1993;92:2092-2098.
-
(1993)
J Clin Invest
, vol.92
, pp. 2092-2098
-
-
Matschinsky, F.1
Liang, Y.2
Kesavan, P.3
-
14
-
-
0242384237
-
Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy
-
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.
-
(2003)
Hum Mutat
, vol.22
, pp. 353-362
-
-
Gloyn, A.L.1
-
15
-
-
0027165991
-
Sequence variations of the glucokinase gene in Japanese subjects with NIDDM
-
Eto K, Sakura H, Shimokawa K, et al. Sequence variations of the glucokinase gene in Japanese subjects with NIDDM. Diabetes. 1993;42:1133-1137.
-
(1993)
Diabetes
, vol.42
, pp. 1133-1137
-
-
Eto, K.1
Sakura, H.2
Shimokawa, K.3
-
16
-
-
8044260804
-
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
-
Velho G, Blanche H, Vaxillaire M, et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia. 1997;40:217-224.
-
(1997)
Diabetologia
, vol.40
, pp. 217-224
-
-
Velho, G.1
Blanche, H.2
Vaxillaire, M.3
-
17
-
-
0034947265
-
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI
-
Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP)
-
Massa O, Meschi F, Cuesta-Munoza, et al. High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP). Diabetologia. 2001;44:898-905.
-
(2001)
Diabetologia
, vol.44
, pp. 898-905
-
-
Massa, O.1
Meschi, F.2
Cuesta-Munoza3
-
18
-
-
0034000635
-
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria
-
Ellard S, Beards F, Allen LI, et al. A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia. 2000;43:250-253.
-
(2000)
Diabetologia
, vol.43
, pp. 250-253
-
-
Ellard, S.1
Beards, F.2
Allen, L.I.3
-
19
-
-
0033791170
-
MODY 2 presenting as neonatal hyperglycaemia: A need to reshape the definition of "neonatal diabetes"?
-
Prisco F, Lafusco D, Franzese A, et al. MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of "neonatal diabetes"? Diabetologia. 2000;43:1331-1332.
-
(2000)
Diabetologia
, vol.43
, pp. 1331-1332
-
-
Prisco, F.1
Lafusco, D.2
Franzese, A.3
-
20
-
-
0031914679
-
Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetic heterogeneity
-
Hattersley AT. Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. Diabet Med. 1998;15:15-24.
-
(1998)
Diabet Med
, vol.15
, pp. 15-24
-
-
Hattersley, A.T.1
-
21
-
-
0028353674
-
Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations
-
Byrne MM, Sturis J, Clement K, et al. Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J Clin Invest. 1994;93:1120-1130.
-
(1994)
J Clin Invest
, vol.93
, pp. 1120-1130
-
-
Byrne, M.M.1
Sturis, J.2
Clement, K.3
-
22
-
-
0036210337
-
The genetic abnormality in the beta cell determines the response to an oral glucose load
-
Stride A, Vaxillaire M, Tuomi T, et al. The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia. 2002;45:427-435.
-
(2002)
Diabetologia
, vol.45
, pp. 427-435
-
-
Stride, A.1
Vaxillaire, M.2
Tuomi, T.3
-
23
-
-
0034914347
-
Influence of maternal and fetal glucokinase mutations in gestational diabetes
-
Spyer G, Hattersley AT, Sykes JE, et al. Influence of maternal and fetal glucokinase mutations in gestational diabetes. Am J Obstet Gynecol. 2001;185:240-241.
-
(2001)
Am J Obstet Gynecol
, vol.185
, pp. 240-241
-
-
Spyer, G.1
Hattersley, A.T.2
Sykes, J.E.3
-
24
-
-
0031859976
-
Mutations in the glucokinase gene of the fetus result in reduced birth weight
-
Hattersley AT, Beards F, Ballantyne E, et al. Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet. 1998;19:268-270.
-
(1998)
Nat Genet
, vol.19
, pp. 268-270
-
-
Hattersley, A.T.1
Beards, F.2
Ballantyne, E.3
-
25
-
-
0033842777
-
Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity
-
Velho G, Hattersley AT, Froguel P. Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity. Diabetologia. 2000;43:1060-1063.
-
(2000)
Diabetologia
, vol.43
, pp. 1060-1063
-
-
Velho, G.1
Hattersley, A.T.2
Froguel, P.3
-
26
-
-
0035122282
-
Beta-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. Diabetes. 2001;50(suppl 1):S94-S100.
-
(2001)
Diabetes
, vol.50
, Issue.1 SUPPL.
-
-
Frayling, T.M.1
Evans, J.C.2
Bulman, M.P.3
-
27
-
-
0033752712
-
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young
-
Ellard S. Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. Hum Mutat. 2000;16:377-385.
-
(2000)
Hum Mutat
, vol.16
, pp. 377-385
-
-
Ellard, S.1
-
28
-
-
0034924285
-
Predictive genetic testing in maturity-onset diabetes of the young (MODY)
-
Shepherd M, Ellis I, Ahmed AM, et al. Predictive genetic testing in maturity-onset diabetes of the young (MODY). Diabet Med. 2001;18:417-421.
-
(2001)
Diabet Med
, vol.18
, pp. 417-421
-
-
Shepherd, M.1
Ellis, I.2
Ahmed, A.M.3
-
29
-
-
10244249309
-
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12
-
Byrne MM, Sturis J, Menzel S, et al. Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes. 1996;45:1503-1510.
-
(1996)
Diabetes
, vol.45
, pp. 1503-1510
-
-
Byrne, M.M.1
Sturis, J.2
Menzel, S.3
-
30
-
-
0031684710
-
A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene
-
Menzel R, Kaisaki PJ, Rjasanowski I, et al. A low renal threshold for glucose in diabetic patients with a mutation in the hepatocyte nuclear factor-1alpha (HNF-1alpha) gene. Diabet Med. 1998;15:816-820.
-
(1998)
Diabet Med
, vol.15
, pp. 816-820
-
-
Menzel, R.1
Kaisaki, P.J.2
Rjasanowski, I.3
-
31
-
-
0034304925
-
HNF1alpha controls renal glucose reabsorption in mouse and man
-
Pontoglio M, Prie D, Cheret C, et al. HNF1alpha controls renal glucose reabsorption in mouse and man. EMBO Reports. 2000;1:359-365.
-
(2000)
EMBO Reports
, vol.1
, pp. 359-365
-
-
Pontoglio, M.1
Prie, D.2
Cheret, C.3
-
32
-
-
0024497173
-
Maturity-onset diabetes of the young. Studies in a Norwegian family
-
Heiervang E, Folling I, Sovik O, et al. Maturity-onset diabetes of the young. Studies in a Norwegian family. Acta Paediatr Scand. 1989;78:74-80.
-
(1989)
Acta Paediatr Scand
, vol.78
, pp. 74-80
-
-
Heiervang, E.1
Folling, I.2
Sovik, O.3
-
33
-
-
0033847575
-
Sensitivity to sulfonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: Evidence for pharmacogenetics in diabetes
-
Pearson ER, Lidell WG, Shepherd M, et al. Sensitivity to sulfonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med. 2000;17:543-545.
-
(2000)
Diabet Med
, vol.17
, pp. 543-545
-
-
Pearson, E.R.1
Lidell, W.G.2
Shepherd, M.3
-
34
-
-
0142186278
-
Genetic cause of hyperglycaemia and response to treatment in diabetes
-
Pearson ER, Starkey BJ, Powell RJ, et al. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet. 2003;362:1275-1281.
-
(2003)
Lancet
, vol.362
, pp. 1275-1281
-
-
Pearson, E.R.1
Starkey, B.J.2
Powell, R.J.3
-
35
-
-
0242363725
-
No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas
-
Shepherd M, Pearson ER, Houghton J, et al. No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas. Diabetes Care. 2003;26:3191-3192.
-
(2003)
Diabetes Care
, vol.26
, pp. 3191-3192
-
-
Shepherd, M.1
Pearson, E.R.2
Houghton, J.3
-
37
-
-
0036918736
-
Transient neonatal diabetes, a disorder of imprinting
-
Temple IK, Shield JP. Transient neonatal diabetes, a disorder of imprinting. J Med Genet. 2002;39:872-875.
-
(2002)
J Med Genet
, vol.39
, pp. 872-875
-
-
Temple, I.K.1
Shield, J.P.2
-
38
-
-
10744222821
-
Permanent neonatal diabetes caused by glucokinase deficiency: Inborn error of the glucose-insulin signaling pathway
-
Njolstad PR, Sagen JV, Bjorkhaug L, et al. Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. Diabetes. 2003;52:2854-2860.
-
(2003)
Diabetes
, vol.52
, pp. 2854-2860
-
-
Njolstad, P.R.1
Sagen, J.V.2
Bjorkhaug, L.3
-
39
-
-
11844250571
-
Permanent neonatal diabetes in an Asian infant
-
Porter JR, Shaw NJ, Barrett TG, et al. Permanent neonatal diabetes in an Asian infant. J Pediatr. 2005;146:131-133.
-
(2005)
J Pediatr
, vol.146
, pp. 131-133
-
-
Porter, J.R.1
Shaw, N.J.2
Barrett, T.G.3
-
40
-
-
0342902204
-
Neonatal diabetes mellitus due to complete glucokinase deficiency
-
Njolstad PR, Sovik O, Cuesta-Munoz A, et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med. 2001;344:1588-1592.
-
(2001)
N Engl J Med
, vol.344
, pp. 1588-1592
-
-
Njolstad, P.R.1
Sovik, O.2
Cuesta-Munoz, A.3
-
41
-
-
0034425698
-
EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome
-
Delepine M, Nicolino M, Barrett T, et al. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet. 2000;25:406-409.
-
(2000)
Nat Genet
, vol.25
, pp. 406-409
-
-
Delepine, M.1
Nicolino, M.2
Barrett, T.3
-
42
-
-
0035163909
-
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
-
Wildin RS, Ramsdell F, Peake J, et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet. 2001;27:18-20.
-
(2001)
Nat Genet
, vol.27
, pp. 18-20
-
-
Wildin, R.S.1
Ramsdell, F.2
Peake, J.3
-
43
-
-
0031253820
-
Early-onset type-II diabetes mellitus (MODY4) linked to IPF1
-
Stoffers DA, Ferrer J, Clarke WL, et al. 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
-
44
-
-
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, 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.
-
(2004)
N Engl J Med
, vol.350
, pp. 1838-1849
-
-
Gloyn, A.L.1
Pearson, E.R.2
Antcliff, J.F.3
-
45
-
-
4644309915
-
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients
-
Vaxillaire M, Populaire C, Busiah K, et al. Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes. 2004;53:2719-2722.
-
(2004)
Diabetes
, vol.53
, pp. 2719-2722
-
-
Vaxillaire, M.1
Populaire, C.2
Busiah, K.3
-
46
-
-
19944427182
-
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
-
Massa O, Iafusco D, D'Amato E, et al. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat. 2005;25:22-27.
-
(2005)
Hum Mutat
, vol.25
, pp. 22-27
-
-
Massa, O.1
Iafusco, D.2
D'Amato, E.3
-
47
-
-
4644260056
-
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: Patient characteristics and initial response to sulfonylurea therapy
-
Sagen JV, Raeder H, Hathout E, et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes. 2004;53:2713-2718.
-
(2004)
Diabetes
, vol.53
, pp. 2713-2718
-
-
Sagen, J.V.1
Raeder, H.2
Hathout, E.3
-
48
-
-
4043088022
-
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel
-
Gloyn AL, Cummings EA, Edghill EL, et al. Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. J Clin Endocrinol Metab. 2004;89:3932-3935.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 3932-3935
-
-
Gloyn, A.L.1
Cummings, E.A.2
Edghill, E.L.3
-
49
-
-
0023911193
-
Adenosine 5′-triphosphate-sensitive potassium channels
-
Ashcroft FM. Adenosine 5′-triphosphate-sensitive potassium channels. Ann Rev Neurosci. 1988;11:97-118.
-
(1988)
Ann Rev Neurosci
, vol.11
, pp. 97-118
-
-
Ashcroft, F.M.1
|