-
1
-
-
43549102666
-
Neonatal diabetes mellitus
-
Aguilar-Bryan L, Bryan J. Neonatal diabetes mellitus. Endocr Rev 2008: 29: 265-291.
-
(2008)
Endocr Rev
, vol.29
, pp. 265-291
-
-
Aguilar-Bryan, L.1
Bryan, J.2
-
2
-
-
34247880183
-
Neonatal diabetes mellitus: a disease linked to multiple mechanisms
-
Polak M, Cave H. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis 2007: 2: 12.
-
(2007)
Orphanet J Rare Dis
, vol.2
, pp. 12
-
-
Polak, M.1
Cave, H.2
-
3
-
-
84874430012
-
Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births
-
Epub ahead of print
-
Iafusco D, Massa O, Pasquino B et al. Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90, 000 live births. Acta Diabetol 2011 [Epub ahead of print].
-
(2011)
Acta Diabetol
-
-
Iafusco, D.1
Massa, O.2
Pasquino, B.3
-
4
-
-
33646513278
-
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6months 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 6months 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
-
5
-
-
33748333167
-
HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6months
-
Edghill EL, Dix RJ, Flanagan SE et al. HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6months. Diabetes 2006: 55: 1895-1898.
-
(2006)
Diabetes
, vol.55
, pp. 1895-1898
-
-
Edghill, E.L.1
Dix, R.J.2
Flanagan, S.E.3
-
6
-
-
3042637568
-
Permanent diabetes mellitus in the first year of life
-
Iafusco D, Stazi MA, Cotichini R et al. Permanent diabetes mellitus in the first year of life. Diabetologia 2002: 45: 798-804.
-
(2002)
Diabetologia
, vol.45
, pp. 798-804
-
-
Iafusco, D.1
Stazi, M.A.2
Cotichini, R.3
-
7
-
-
20344380957
-
Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment
-
Slingerland AS, Hattersley AT. Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment. Ann Med 2005: 37: 186-195.
-
(2005)
Ann Med
, vol.37
, pp. 186-195
-
-
Slingerland, A.S.1
Hattersley, A.T.2
-
8
-
-
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
-
9
-
-
33746778878
-
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
-
Babenko AP, Polak M, Cave H et al. 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
Cave, H.3
-
10
-
-
42449134450
-
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood
-
Edghill EL, Flanagan SE, Patch AM et al. Insulin mutation screening in 1, 044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008: 57: 1034-1042.
-
(2008)
Diabetes
, vol.57
, pp. 1034-1042
-
-
Edghill, E.L.1
Flanagan, S.E.2
Patch, A.M.3
-
11
-
-
41149084500
-
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes
-
Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 2008: 4: 200-213.
-
(2008)
Nat Clin Pract Endocrinol Metab
, vol.4
, pp. 200-213
-
-
Murphy, R.1
Ellard, S.2
Hattersley, A.T.3
-
12
-
-
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
-
13
-
-
33746686369
-
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
-
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.
-
(2006)
N Engl J Med
, vol.355
, pp. 467-477
-
-
Pearson, E.R.1
Flechtner, I.2
Njolstad, P.R.3
-
14
-
-
38949177444
-
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations
-
Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, Hattersley AT. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care 2008: 31: 204-209.
-
(2008)
Diabetes Care
, vol.31
, 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
-
15
-
-
33745288813
-
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
-
Gloyn AL, Diatloff-Zito C, Edghill EL et al. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet 2006: 14: 824-830.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 824-830
-
-
Gloyn, A.L.1
Diatloff-Zito, C.2
Edghill, E.L.3
-
16
-
-
40849139200
-
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy
-
Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F. 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.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 1054-1061
-
-
Koster, J.C.1
Cadario, F.2
Peruzzi, C.3
Colombo, C.4
Nichols, C.G.5
Barbetti, F.6
-
17
-
-
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 V59M mutation in the KCNJ11 gene
-
Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ. 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 V59M mutation in the KCNJ11 gene. Diabetologia 2006: 49: 2559-2563.
-
(2006)
Diabetologia
, vol.49
, pp. 2559-2563
-
-
Slingerland, A.S.1
Nuboer, R.2
Hadders-Algra, M.3
Hattersley, A.T.4
Bruining, G.J.5
-
18
-
-
4644295056
-
SEARCH for Diabetes in Youth: a multicenter study of the prevalence, incidence and classification of diabetes mellitus in youth
-
SEARCH Study Group.
-
SEARCH Study Group. SEARCH for Diabetes in Youth: a multicenter study of the prevalence, incidence and classification of diabetes mellitus in youth. Control Clin Trials 2004: 25: 458-471.
-
(2004)
Control Clin Trials
, vol.25
, pp. 458-471
-
-
-
19
-
-
33750107067
-
The burden of diabetes mellitus among US youth: prevalence estimates from the SEARCH for Diabetes in Youth Study
-
Liese AD, D'Agostino RB Jr, Hamman RF et al. The burden of diabetes mellitus among US youth: prevalence estimates from the SEARCH for Diabetes in Youth Study. Pediatrics 2006: 118: 1510-1518.
-
(2006)
Pediatrics
, vol.118
, pp. 1510-1518
-
-
Liese, A.D.1
D'Agostino Jr, R.B.2
Hamman, R.F.3
-
20
-
-
34347255769
-
Incidence of diabetes in youth in the United States
-
Dabelea D, Bell RA, D'Agostino RB Jr et al. Incidence of diabetes in youth in the United States. JAMA 2007: 297: 2716-2724.
-
(2007)
JAMA
, vol.297
, pp. 2716-2724
-
-
Dabelea, D.1
Bell, R.A.2
D'Agostino Jr, R.B.3
-
21
-
-
77954949830
-
Harmonization of glutamic acid decarboxylase and islet antigen-2 autoantibody assays for national institute of diabetes and digestive and kidney diseases consortia
-
Bonifacio E, Yu L, Williams AK et al. Harmonization of glutamic acid decarboxylase and islet antigen-2 autoantibody assays for national institute of diabetes and digestive and kidney diseases consortia. J Clin Endocrinol Metab 2010: 95: 3360-3367.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 3360-3367
-
-
Bonifacio, E.1
Yu, L.2
Williams, A.K.3
-
22
-
-
59749094454
-
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism
-
Flanagan SE, Clauin S, Bellanne-Chantelot C et al. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat 2009: 30: 170-180.
-
(2009)
Hum Mutat
, vol.30
, pp. 170-180
-
-
Flanagan, S.E.1
Clauin, S.2
Bellanne-Chantelot, C.3
-
23
-
-
0024560413
-
A diabetes-susceptible HLA haplotype is best defined by a combination of HLA-DR and -DQ alleles
-
Sheehy MJ, Scharf SJ, Rowe JR et al. A diabetes-susceptible HLA haplotype is best defined by a combination of HLA-DR and -DQ alleles. J Clin Invest 1989: 83: 830-835.
-
(1989)
J Clin Invest
, vol.83
, pp. 830-835
-
-
Sheehy, M.J.1
Scharf, S.J.2
Rowe, J.R.3
-
24
-
-
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
-
Slingerland AS, Shields BM, Flanagan SE et al. 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 2009: 52: 1683-1685.
-
(2009)
Diabetologia
, vol.52
, pp. 1683-1685
-
-
Slingerland, A.S.1
Shields, B.M.2
Flanagan, S.E.3
-
25
-
-
34147167267
-
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers
-
Stanik J, Gasperikova D, Paskova M et al. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab 2007: 92: 1276-1282.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 1276-1282
-
-
Stanik, J.1
Gasperikova, D.2
Paskova, M.3
-
26
-
-
79959716801
-
Permanent diabetes during the first year of life: multiple gene screening in 54 patients
-
Russo L, Iafusco D, Brescianini S et al. Permanent diabetes during the first year of life: multiple gene screening in 54 patients. Diabetologia 2011: 54: 1693-1701.
-
(2011)
Diabetologia
, vol.54
, pp. 1693-1701
-
-
Russo, L.1
Iafusco, D.2
Brescianini, S.3
-
27
-
-
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
|