-
1
-
-
79551663845
-
Permanent neonatal diabetes mellitus the importance of diabetes differential diagnosis in neonates and infants
-
CEED3 Consortium
-
Rubio-Cabezas O, Klupa T, Malecki MT, CEED3 Consortium. Permanent neonatal diabetes mellitus the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest 2011;41:323-333.
-
(2011)
Eur J Clin Invest
, vol.41
, pp. 323-333
-
-
Rubio-Cabezas, O.1
Klupa, T.2
Malecki, M.T.3
-
2
-
-
77957598976
-
Neonatal diabetes mellitus accompanied by diabetic ketoacidosis and mimicking neonatal sepsis: A case report
-
Abaci A, Razi CH, Ozdemir O, Hizli S, Kislal F, Agras PI, Kabakus N. Neonatal diabetes mellitus accompanied by diabetic ketoacidosis and mimicking neonatal sepsis: A case report. J Clin Res Pediatr Endocrinol 2010;2:131-133.
-
(2010)
J Clin Res Pediatr Endocrinol
, vol.2
, pp. 131-133
-
-
Abaci, A.1
Razi, C.H.2
Ozdemir, O.3
Hizli, S.4
Kislal, F.5
Agras, P.I.6
Kabakus, N.7
-
3
-
-
42449134450
-
Insulin mutation screening in 1044 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
-
Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S
-
Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S. Insulin mutation screening in 1044 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
Boustred, C.4
Parrish, A.5
Shields, B.6
Shepherd, M.H.7
Hussain, K.8
Kapoor, R.R.9
Malecki, M.10
McDonald, M.J.11
Støy, J.12
Steiner, D.F.13
Philipson, L.H.14
Bell, G.I.15
-
4
-
-
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, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njolstad PR, Ashcroft FM, Hattersley AT. 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
Proks, P.4
Bruining, G.J.5
Slingerland, A.S.6
Howard, N.7
Srinivasan, S.8
Silva, J.M.9
Molnes, J.10
Edghill, E.L.11
Frayling, T.M.12
Temple, I.K.13
Mackay, D.14
Shield, J.P.15
Sumnik, Z.16
van Rhijn, A.17
Wales, J.K.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..
-
5
-
-
33744722778
-
A heterozygous activating mutation in the sulphonylurea receptor (SUR1) (ABCC8) causes neonatal diabetes
-
Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S. A heterozygous activating mutation in the sulphonylurea receptor (SUR1) (ABCC8) causes neonatal diabetes. Hum Mol Genet 2006; 15:1793-1800.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1793-1800
-
-
Proks, P.1
Arnold, A.L.2
Bruining, J.3
Girard, C.4
Flanagan, S.E.5
Larkin, B.6
Colclough, K.7
Hattersley, A.T.8
Ashcroft, F.M.9
Ellard, S.10
-
6
-
-
33746778878
-
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
-
Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P. 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
Busiah, K.4
Czernichow, P.5
Scharfmann, R.6
Bryan, J.7
Aguilar-Bryan, L.8
Vaxillaire, M.9
Froguel, P.10
-
7
-
-
35448994352
-
Insulin gene mutations as a cause of permanent neonatal diabetes
-
Neonatal Diabetes International Collaborative Group
-
Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci USA 2007;104:15040-15044.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 15040-15044
-
-
Støy, 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.12
Patch, A.M.13
Ellard, S.14
Steiner, D.F.15
Hattersley, A.T.16
Philipson, L.H.17
Bell, G.I.18
-
8
-
-
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
-
9
-
-
0035993333
-
ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures
-
Darendeliler F, Fournet JC, Bas F, Junien C, Gross MS, Bundak R, Saka N, Gunoz H. ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. J Pediatr Endocrinol Metab 2002;15:993-1000.
-
(2002)
J Pediatr Endocrinol Metab
, vol.15
, pp. 993-1000
-
-
Darendeliler, F.1
Fournet, J.C.2
Bas, F.3
Junien, C.4
Gross, M.S.5
Bundak, R.6
Saka, N.7
Gunoz, H.8
-
10
-
-
33746686369
-
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
-
Neonatal Diabetes International Collaborative Group
-
Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group. 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
Njølstad, 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
Søvik, O.17
Polak, M.18
Hattersley, A.T.19
-
11
-
-
38949177444
-
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations
-
Neonatal Diabetes International Collaborative Group
-
Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, Hattersley AT; Neonatal Diabetes International Collaborative Group. 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
-
12
-
-
34547747922
-
Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects
-
Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM. Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects. Am J Hum Genet 2007;81:375-382.
-
(2007)
Am J Hum Genet
, vol.81
, 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.8
Proks, P.9
Shimomura, K.10
Haberland, H.11
Carson, D.J.12
Shield, J.P.13
Hattersley, A.T.14
Ashcroft, F.M.15
-
14
-
-
78951478100
-
Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation
-
Zwaveling-Soonawala N, Hagebeuk EE, Slingerland AS, Ris-Stalpers C, Vulsma T, van Trotsenburg AS. Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation. Diabetologia 2011;54:469-471.
-
(2011)
Diabetologia
, vol.54
, pp. 469-471
-
-
Zwaveling-Soonawala, N.1
Hagebeuk, E.E.2
Slingerland, A.S.3
Ris-Stalpers, C.4
Vulsma, T.5
van Trotsenburg, A.S.6
-
15
-
-
68949220477
-
ATP channel) gene are associated with a variable clinical phenotype
-
ATP channel) gene are associated with a variable clinical phenotype. Clin Endocrinol (Oxf) 2009;71:358-362.
-
(2009)
Clin Endocrinol (Oxf)
, vol.71
, pp. 358-362
-
-
Klupa, T.1
Kowalska, I.2
Wyka, K.3
Skupien, J.4
Patch, A.M.5
Flanagan, S.E.6
Noczynska, A.7
Arciszewska, M.8
Ellard, S.9
Hattersley, A.T.10
Sieradzki, J.11
Mlynarski, W.12
Malecki, M.T.13
-
16
-
-
81255127321
-
Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea
-
Russo C, Salina A, Aloi C, Iafusco D, Lorini R, d'Annunzio G. Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea. Diabetes Res Clin Pract 2011;94:50-52.
-
(2011)
Diabetes Res Clin Pract
, vol.94
, pp. 50-52
-
-
Russo, C.1
Salina, A.2
Aloi, C.3
Iafusco, D.4
Lorini, R.5
d'Annunzio, G.6
-
17
-
-
34247166663
-
Sulfonylurea-responsive diabetes in childhood
-
Landau Z, Wainstein J, Hanukoglu A, Tuval M, Lavie J, Glaser B. Sulfonylurea-responsive diabetes in childhood. J Pediatr 2007;150:553-555.
-
(2007)
J Pediatr
, vol.150
, pp. 553-555
-
-
Landau, Z.1
Wainstein, J.2
Hanukoglu, A.3
Tuval, M.4
Lavie, J.5
Glaser, B.6
-
18
-
-
80054097981
-
No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes
-
Lafusco D, Bizzarri C, Cadario F, Pesavento R, Tonini G, Tumini S, Cauvin V, Colombo C, Bonfanti R, Barbetti F. No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes. Diabetologia 2011;54:2736-2738.
-
(2011)
Diabetologia
, vol.54
, pp. 2736-2738
-
-
Lafusco, D.1
Bizzarri, C.2
Cadario, F.3
Pesavento, R.4
Tonini, G.5
Tumini, S.6
Cauvin, V.7
Colombo, C.8
Bonfanti, R.9
Barbetti, F.10
-
19
-
-
0345493905
-
Patient compliance in a clinical trial with inhaled budesonide in children with mild asthma
-
Jónasson G, Carlsen KH, Sødal A, Jonasson C, Mowinckel P. Patient compliance in a clinical trial with inhaled budesonide in children with mild asthma. Eur Respir J 1999;14:150-154.
-
(1999)
Eur Respir J
, vol.14
, pp. 150-154
-
-
Jónasson, G.1
Carlsen, K.H.2
Sødal, A.3
Jonasson, C.4
Mowinckel, P.5
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