-
3
-
-
0032556969
-
Familial hyperinsulinism caused by an activating glucokinase mutation
-
(1998)
N Engl J Med
, vol.338
, 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
Matchinsky, F.M.10
Herold, K.C.11
-
4
-
-
0032493123
-
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
-
(1998)
N Engl J Med
, vol.338
, pp. 1352-1357
-
-
Stanley, C.A.1
Lieu, Y.K.2
Hsu, B.Y.L.3
Burlina, A.B.4
Greenberg, C.R.5
Hopwood, N.J.6
Perlman, K.7
Rich, B.H.8
Zammarchi, E.9
Poncz, M.10
-
5
-
-
0031942583
-
Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant
-
(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, M.A.7
Baker, L.8
Stanley, C.A.9
-
9
-
-
0029021696
-
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
-
(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
Rabl, W.6
Aguilar-Bryan, L.7
Gagel, R.F.8
Bryan, J.9
-
11
-
-
15644367096
-
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism
-
(1997)
Diabetes
, vol.46
, pp. 1743-1748
-
-
Nestorowicz, A.1
Inagaki, N.2
Gonoi, T.3
Schoor, K.P.4
Wilson, B.A.5
Glaser, B.6
Landau, H.7
Stanley, C.A.8
Thornton, P.S.9
Seino, S.10
Permutt, M.A.11
-
12
-
-
0028972501
-
Reconstitution of IKATP: An inward rectifier subunit plus the sulfonylurea receptor
-
(1995)
Science
, vol.270
, pp. 1166-1170
-
-
Inagaki, N.1
Gonoi, T.2
Clement IV, J.P.3
Namba, N.4
Inazawa, J.5
Gonzalez, G.6
Aguilar-Bryan, L.7
Seino, S.8
Bryan, J.9
-
16
-
-
0032937898
-
Congenital hyperinsulinism and the surgeon: Lessons learned over 35 years
-
(1999)
J Pediatr Surg
, vol.34
, pp. 786-793
-
-
Lovvorn III, H.N.1
Nance, M.L.2
Ferry R.J., Jr.3
Stolte, L.4
Baker, L.5
O'Neill J.A., Jr.6
Schnaufer, L.7
Stanley, C.A.8
Adzick, N.S.9
-
17
-
-
0032190017
-
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia
-
(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-Fekete, C.9
Saudubray, J.M.10
Junien, C.11
-
18
-
-
0031765251
-
Hyperinsulinism: Molecular aetiology of focal disease
-
(1998)
Arch Dis Child
, vol.79
, pp. 445-447
-
-
Ryan, F.1
Devaney, D.2
Joyce, C.3
Nestorowicz, A.4
Permutt, M.A.5
Glaser, B.6
Barton, D.E.7
Thornton, P.S.8
-
19
-
-
0032790274
-
Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene
-
(1999)
Diabetes
, vol.48
, pp. 1652-1657
-
-
Glaser, B.1
Ryan, F.2
Donath, M.3
Landau, H.4
Stanley, C.A.5
Baker, L.6
Barton, D.E.7
Thornton, P.S.8
-
23
-
-
0030016913
-
Adenosine diphosphatase as an intracellular regulator of insulin secretion
-
(1996)
Science
, vol.272
, pp. 1785-1787
-
-
Nichols, C.G.1
Shyng, S.L.2
Nestorowicz, A.3
Glaser, B.4
Clement IV, J.P.5
Gonzalez, G.6
Aguilar-Bryan, L.7
Permutt, M.A.8
Bryan, J.9
-
25
-
-
0029658241
-
Mutations in the sulfonlurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
-
(1996)
Human 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 IV, J.P.9
Bryan, J.10
Aguilar-Bryan, L.11
Permutt, M.A.12
-
26
-
-
0028236583
-
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene
-
(1994)
Nat Genet
, vol.7
, pp. 185-188
-
-
Glaser, B.1
Chiu, K.C.2
Anker, R.3
Nestorowicz, A.4
Landau, H.5
Ben-Bassat, H.6
Shlomai, Z.7
Kaiser, N.8
Thornton, P.S.9
Stanley, C.A.10
Spielman, R.S.11
Goglin-Ewens, K.12
Cerasi, E.13
Baker, L.14
Rice, J.15
Donis-Keller, H.16
Permutt, M.A.17
-
29
-
-
0031041271
-
Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor
-
(1997)
N 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.5
Johnson, P.R.6
Aynsley-Green, A.7
Lu, S.8
Clement IV, J.P.9
Lindley, K.J.10
Seino, S.11
Aguilar-Bryan, L.12
-
38
-
-
85037424580
-
Calcium influx and afflux pathways in insulin-secreting cells
-
(1993)
Biophys J
, vol.64
-
-
Dukes, I.D.1
-
42
-
-
0032956241
-
cAMP enhances insulin secretion by an action on the ATP-sensitive K+ channel-independent pathway of glucose signaling in rat pancreatic islets
-
(1999)
Diabetes
, vol.48
, pp. 1006-1012
-
-
Yajima, H.1
Komatsu, M.2
Schermerhorn, T.3
Aizawa, T.4
Kaneko, T.5
Nagai, M.6
Sharp, G.W.7
Hashizume, K.8
-
44
-
-
0028353674
-
Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations
-
(1994)
J Clin Invest
, vol.93
, pp. 1120-1130
-
-
Byrne, M.M.1
Sturis, J.2
Clement, K.3
Vionnet, N.4
Pueyo, M.E.5
Stoffel, M.6
Takeda, J.7
Passa, P.8
Cohen, D.9
Bell, G.I.10
Velho, G.11
Froguel, P.12
Polonsky, K.S.13
-
45
-
-
10244249309
-
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12
-
(1996)
Diabetes
, vol.45
, pp. 1503-1510
-
-
Byrne, M.M.1
Sturis, J.2
Menzel, S.3
Yamagata, K.4
Fajans, S.S.5
Dronsfield, M.J.6
Bain, S.C.7
Hattersley, A.T.8
Velho, G.9
Froguel, P.10
Bell, G.I.11
Polonsky, K.S.12
-
47
-
-
0028087153
-
Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of MODY in the RW pedigree
-
(1994)
Diabetes
, vol.43
, pp. 40-46
-
-
Herman, W.H.1
Fajans, S.S.2
Ortiz, F.J.3
Smith, M.J.4
Sturis, J.5
Bell, G.I.6
Polonsky, K.S.7
Halter, J.B.8
-
49
-
-
0023814244
-
Defects in beta-cell function and insulin sensitivity in normoglycemic streptozocin-treated baboons: A model of preclinical insulin-dependent diabetes
-
(1988)
J Clin Endocrinol Metab
, vol.67
, pp. 785-792
-
-
McCulloch, D.K.1
Raghu, P.K.2
Johnston, C.3
Klaff, L.J.4
Kahn, S.E.5
Beard, J.C.6
Ward, W.K.7
Benson, E.A.8
Koerker, D.J.9
Bergman, R.N.10
Palmer, J.P.11
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