-
2
-
-
33646221479
-
ATP-sensitive potassium channels, sulfonylurea receptors, and persistent hyperinsulinemic hypoglycemia of infancy
-
Aguilar-Bryan L, Bryak J. 1995. ATP-sensitive potassium channels, sulfonylurea receptors, and persistent hyperinsulinemic hypoglycemia of infancy. Diabetes Rev 4:337-346.
-
(1995)
Diabetes Rev
, vol.4
, pp. 337-346
-
-
Aguilar-Bryan, L.1
Bryak, J.2
-
3
-
-
0025145330
-
Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus
-
Bruining G. 1990. Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus. Curr Opin Pediatr 2:758-765.
-
(1990)
Curr Opin Pediatr
, vol.2
, pp. 758-765
-
-
Bruining, G.1
-
4
-
-
0031041271
-
Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor
-
Dunne MJ, Kane C, Shepherd RM, Sanchez JA, James RFL, Johnson PRV, Aynsley-Green A, Lu S, Clement JP IV, Lindley KJ, Seino S, Aguilar-Bryan L. 1997. Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. New Engl J Med 336:703-706.
-
(1997)
New Engl J Med
, vol.336
, pp. 703-706
-
-
Dunne, M.J.1
Kane, C.2
Shepherd, R.M.3
Sanchez, J.A.4
James, R.F.L.5
Johnson, P.R.V.6
Aynsley-Green, A.7
Lu, S.8
Clement J.P. IV9
Lindley, K.J.10
Seino, S.11
Aguilar-Bryan, L.12
-
5
-
-
0032556969
-
Familial hyperinsulinism caused by an activating glucokinase mutation
-
Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM, Herold KC. 1998. Familial hyperinsulinism caused by an activating glucokinase mutation. New Eng J Med 358:226-230.
-
(1998)
New Eng J Med
, vol.358
, pp. 226-230
-
-
Glaser, B.1
Kesavan, P.2
Heyman, M.3
Davis, E.4
Cuesta, A.5
Buchs, A.6
Stanley, C.A.7
Thornton, P.S.8
Permutt, M.A.9
Matschinsky, F.M.10
Herold, K.C.11
-
6
-
-
0029658788
-
ATP channels in pancreatic β-cells causes persistent hyperinsulinemic hypoglycemia of infancy
-
ATP channels in pancreatic β-cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nature Med 2:1344-1348.
-
(1996)
Nature Med
, vol.2
, pp. 1344-1348
-
-
Kane, C.1
Shepherd, R.M.2
Squires, P.E.3
Johnson, P.R.V.4
James, R.F.L.5
Milla, P.J.6
Aynsley-Green, A.7
Lindley, K.J.8
Dunne, M.J.9
-
7
-
-
0025965216
-
Preconception care of diabetes
-
Kitzmiller JL, Gavin LA, Gin GD, Jovanovic-Peterson L, Main EK, Zigrang WD. 1991. Preconception care of diabetes. JAMA 265:731-736.
-
(1991)
JAMA
, vol.265
, pp. 731-736
-
-
Kitzmiller, J.L.1
Gavin, L.A.2
Gin, G.D.3
Jovanovic-Peterson, L.4
Main, E.K.5
Zigrang, W.D.6
-
9
-
-
0030880778
-
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy
-
Lonlay P de, Fournet J-C, Rahier J, Gross-Morand M-S, Poggi-Travert F, Foussier V, Bonnefont J-P, Brusset M-C, Brunelle F, Robert J-J, Nihoul-Fékété C, Saudubray J-M, Junien C. 1997. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 100:802-807.
-
(1997)
J Clin Invest
, vol.100
, pp. 802-807
-
-
De Lonlay, P.1
Fournet, J.-C.2
Rahier, J.3
Gross-Morand, M.-S.4
Poggi-Travert, F.5
Foussier, V.6
Bonnefont, J.-P.7
Brusset, M.-C.8
Brunelle, F.9
Robert, J.-J.10
Nihoul-Fékété, C.11
Saudubray, J.-M.12
Junien, C.13
-
10
-
-
0033560687
-
Clinical features of 52 neonates with hyperinsulinism
-
Lonlay-Debeney P de, Poggi-Travert F, Fournet J-C, Sempoux C, Vici CD, Brunelle F, Touati G, Rahier J, Junien C, Nihoul-Fékété C, Robert J-J, Saudubray J-M. 1999. Clinical features of 52 neonates with hyperinsulinism. New Engl J Med 340:1169-1175.
-
(1999)
New Engl J Med
, vol.340
, pp. 1169-1175
-
-
De Lonlay-Debeney, P.1
Poggi-Travert, F.2
Fournet, J.-C.3
Sempoux, C.4
Vici, C.D.5
Brunelle, F.6
Touati, G.7
Rahier, J.8
Junien, C.9
Nihoul-Fékété, C.10
Robert, J.-J.11
Saudubray, J.-M.12
-
11
-
-
0023837804
-
Persistent neonatal hyperinsulinism
-
Mathew P, Young J, Abu O, Mulhern B, Hammoudi S, Hamdan J, Saadi A. 1988. Persistent neonatal hyperinsulinism. Clin Pediatr 27:148-151.
-
(1988)
Clin Pediatr
, vol.27
, pp. 148-151
-
-
Mathew, P.1
Young, J.2
Abu, O.3
Mulhern, B.4
Hammoudi, S.5
Hamdan, J.6
Saadi, A.7
-
12
-
-
0031802399
-
Genetic heterogeneity in familial hyperinsulinism
-
Nestorowicz A, Glaser B, Wilson BA, Shyng S-L, Nichols CG, Stanley CA, Thorton PS, Permutt MA. 1998. Genetic heterogeneity in familial hyperinsulinism. Hum Molec Genet 7:1119-1128.
-
(1998)
Hum Molec Genet
, vol.7
, pp. 1119-1128
-
-
Nestorowicz, A.1
Glaser, B.2
Wilson, B.A.3
Shyng, S.-L.4
Nichols, C.G.5
Stanley, C.A.6
Thorton, P.S.7
Permutt, M.A.8
-
13
-
-
15644367096
-
A nonsense mutation in the inward rectifier potassium channel gene. Kir6.2 is associated with familial hyperinsulinism
-
Nestorowicz A, Inagaki N, Gonoi T, Schoor K, Wilson B, Glaser B, Landau H, Stanley C, Thornton P, Seino S, Permutt M. 1997. A nonsense mutation in the inward rectifier potassium channel gene. Kir6.2 is associated with familial hyperinsulinism. Diabetes 46:1743-1748.
-
(1997)
Diabetes
, vol.46
, pp. 1743-1748
-
-
Nestorowicz, A.1
Inagaki, N.2
Gonoi, T.3
Schoor, K.4
Wilson, B.5
Glaser, B.6
Landau, H.7
Stanley, C.8
Thornton, P.9
Seino, S.10
Permutt, M.11
-
14
-
-
0029658241
-
Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
-
Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP IV, Bryan J. 1996. Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet 5:1813-1822.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1813-1822
-
-
Nestorowicz, A.1
Wilson, B.A.2
Schoor, K.P.3
Inoue, H.4
Glaser, B.5
Landau, H.6
Stanley, C.A.7
Thornton, P.S.8
Clement J.P. IV9
Bryan, J.10
-
15
-
-
0029742768
-
Familial hyperinsulinsim: An inherited disorder of spontaneous hypoglycemia in neonates and infants
-
Permutt MA, Nestorowicz A, Glaser B. 1996. Familial hyperinsulinsim: An inherited disorder of spontaneous hypoglycemia in neonates and infants. Diabetes Rev 4:347-355.
-
(1996)
Diabetes Rev
, vol.4
, pp. 347-355
-
-
Permutt, M.A.1
Nestorowicz, A.2
Glaser, B.3
-
16
-
-
0031936418
-
Partial or near-total pancreatectomy for persistent hyperinsulinaemic hypoglycaemia: The pathologist's role
-
Rahier J, Sempoux C, Fournet J-C, Poggi F, Brunelle F, Nihoul-Fékété C, Saudubray J-M, Jaubert F. 1998. Partial or near-total pancreatectomy for persistent hyperinsulinaemic hypoglycaemia: The pathologist's role. Histopathology 32:15-19.
-
(1998)
Histopathology
, vol.32
, pp. 15-19
-
-
Rahier, J.1
Sempoux, C.2
Fournet, J.-C.3
Poggi, F.4
Brunelle, F.5
Nihoul-Fékété, C.6
Saudubray, J.-M.7
Jaubert, F.8
-
17
-
-
0031799545
-
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy
-
Shyng SL, Ferrigui T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG. 1998. Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 47:1145-1151.
-
(1998)
Diabetes
, vol.47
, pp. 1145-1151
-
-
Shyng, S.L.1
Ferrigui, T.2
Shepard, J.B.3
Nestorowicz, A.4
Glaser, B.5
Permutt, M.A.6
Nichols, C.G.7
-
18
-
-
0030936881
-
Hyperinsulinism in infants and children
-
Stanley C. 1997. Hyperinsulinism in infants and children. Pediatr Clin N Am 44:363.
-
(1997)
Pediatr Clin N Am
, vol.44
, pp. 363
-
-
Stanley, C.1
-
19
-
-
0033560942
-
The causes of neonatal hypoglycemia
-
Stanley CA, Baker L. 1999. The causes of neonatal hypoglycemia. New Engl J Med 340:1200-1201.
-
(1999)
New Engl J Med
, vol.340
, pp. 1200-1201
-
-
Stanley, C.A.1
Baker, L.2
-
20
-
-
0029021696
-
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabi W, Aguilar-Bryan L, Gagel RF, Bryan J. 1995. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268:426-429.
-
(1995)
Science
, vol.268
, pp. 426-429
-
-
Thomas, P.M.1
Cote, G.J.2
Wohllk, N.3
Haddad, B.4
Mathew, P.M.5
Rabi, W.6
Aguilar-Bryan, L.7
Gagel, R.F.8
Bryan, J.9
-
21
-
-
0029836983
-
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas P, Ye Y, Lightner E. 1996. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 5:1809-1812.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1809-1812
-
-
Thomas, P.1
Ye, Y.2
Lightner, E.3
-
22
-
-
0031942583
-
Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant
-
Thornton PS, Satin-Smith MS, Herold K, Glaser B, Chiu KC, Nestorowicz A, Permutt AM, Baker S, Stanley CA. 1998. Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant. J Pediatr 132:9-14.
-
(1998)
J Pediatr
, vol.132
, pp. 9-14
-
-
Thornton, P.S.1
Satin-Smith, M.S.2
Herold, K.3
Glaser, B.4
Chiu, K.C.5
Nestorowicz, A.6
Permutt, A.M.7
Baker, S.8
Stanley, C.A.9
-
23
-
-
0032190017
-
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia
-
Verkarre V, Fournet J-C, de Lonlay P, Gross-Morand M-S, Devillers M, Rahier J, Brunelle F, Robert J-J, Nihoul-Fékéte C, Saudubray J-M, Junien C. 1998. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 102:1286-1291.
-
(1998)
J Clin Invest
, vol.102
, pp. 1286-1291
-
-
Verkarre, V.1
Fournet, J.-C.2
De Lonlay, P.3
Gross-Morand, M.-S.4
Devillers, M.5
Rahier, J.6
Brunelle, F.7
Robert, J.-J.8
Nihoul-Fékéte, C.9
Saudubray, J.-M.10
Junien, C.11
-
24
-
-
0032777882
-
Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics
-
Yorifuji T, Muroi J, Uematsu A, Hiramatsu H, Momoi T. 1999. Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics. Hum Genet 104:476-479.
-
(1999)
Hum Genet
, vol.104
, pp. 476-479
-
-
Yorifuji, T.1
Muroi, J.2
Uematsu, A.3
Hiramatsu, H.4
Momoi, T.5
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