-
1
-
-
0030936881
-
Hyperinsulinism in infants and children
-
STANLEY CA: Hyperinsulinism in infants and children. Pediatrie Clinics North Am 44:363-374, 1997
-
(1997)
Pediatrie Clinics North Am
, vol.44
, pp. 363-374
-
-
Stanley, C.A.1
-
2
-
-
0032788372
-
The molecular biology of ATP-sensitive potassium channels
-
AGUILAR-BRYAN L, BRYAN J: The molecular biology of ATP-sensitive potassium channels. Endocrine Rev 20:101-135, 1999
-
(1999)
Endocrine Rev
, vol.20
, pp. 101-135
-
-
Aguilar-Bryan, L.1
Bryan, J.2
-
3
-
-
0029742768
-
Familial hyperinsulinism: An inherited disorder of spontaneous hypoglycemia in neonates and infants
-
PERMUTT MA, NESTOROWICZ A, GLASER B: Familial hyperinsulinism: An inherited disorder of spontaneous hypoglycemia in neonates and infants. Diabetes Rev 4:347-355, 1996
-
(1996)
Diabetes Rev
, vol.4
, pp. 347-355
-
-
Permutt, M.A.1
Nestorowicz, A.2
Glaser, B.3
-
4
-
-
0027375645
-
Persistent hyperinsulinemic hypoglycemia of infancy: Long-term octreotide treatment without pancreatectomy
-
GLASER B, HIRSCH HJ, LANDAU H: Persistent hyperinsulinemic hypoglycemia of infancy: Long-term octreotide treatment without pancreatectomy. J Pediatr 123:644-650, 1993
-
(1993)
J Pediatr
, vol.123
, pp. 644-650
-
-
Glaser, B.1
Hirsch, H.J.2
Landau, H.3
-
5
-
-
0028813928
-
Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: High incidence of diabetes mellitus and persistent ß-cell dysfunction at long-term follow-up
-
LEIBOWITZ G, GLASER B, HIGAZI AA, SALAMEH M, CERASI E, LANDAU H: Hyperinsulinemic hypoglycemia of infancy (nesidioblastosis) in clinical remission: High incidence of diabetes mellitus and persistent ß-cell dysfunction at long-term follow-up. J Clin Endo Metab 80:386-392, 1995
-
(1995)
J Clin Endo Metab
, vol.80
, pp. 386-392
-
-
Leibowitz, G.1
Glaser, B.2
Higazi, A.A.3
Salameh, M.4
Cerasi, E.5
Landau, H.6
-
6
-
-
0023837804
-
Persistent neonatal hyperinsulinism
-
MATIIEW PM, YOUNG JM, ABU-OSBA YK, MULIIERN BD, HAMOUDI S, HAMADAN JA, SA'DI AR: Persistent neonatal hyperinsulinism. Clin Pediair (Pliila) 27:148-151, 1988
-
(1988)
Clin Pediair (Pliila)
, vol.27
, pp. 148-151
-
-
Matiiew, P.M.1
Young, J.M.2
Abu-Osba, Y.K.3
Muliiern, B.D.4
Hamoudi, S.5
Hamadan, J.A.6
Sa'Di, A.R.7
-
7
-
-
0026937234
-
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes
-
STOFFEL M, PATEL P, Lo YM, HATTERSLEY AT, LUCASSEN AM, PAGE R, BELL JI, BELL GI, TURNER RC, WAINSCOAT JS: Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nat Genet 2:153-156, 1992
-
(1992)
Nat Genet
, vol.2
, pp. 153-156
-
-
Stoffel, M.1
Patel, P.2
Lo, Y.M.3
Hattersley, A.T.4
Lucassen, A.M.5
Page, R.6
Bell, J.I.7
Bell, G.I.8
Turner, R.C.9
Wainscoat, J.S.10
-
8
-
-
0031049080
-
Genetic determinants of non-insulin-dependent diabetes mellitus: Strategies and recent results
-
VELIIO G, FROGUEL P: Genetic determinants of non-insulin-dependent diabetes mellitus: Strategies and recent results. Diabetes Metabolism 23:7-17, 1997
-
(1997)
Diabetes Metabolism
, vol.23
, pp. 7-17
-
-
Veliio, G.1
Froguel, P.2
-
9
-
-
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 K: Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 338:226-230, 1998
-
(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
Matschinsky, F.M.10
Herold, K.11
-
10
-
-
0032493123
-
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. TV
-
STANLEY CA, LIEU YK, Hsu BY, BURLINA AB, GREENBERG CR, HOPWOOD NJ, PERLMAN K, RICH BH, ZAMMARCHI E, PONCZ M: Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. TV Engl J Med 338:1352-1357, 199S
-
Engl J Med
, vol.338
, pp. 1352-1357
-
-
Stanley, C.A.1
Lieu, Y.K.2
Hsu, B.Y.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
-
11
-
-
0014703161
-
A possible role for the exocrine pancreas in the pathogenesis of neonatal leucine-sensitive hypoglycemia
-
BROWN RE, YOUNG RB: A possible role for the exocrine pancreas in the pathogenesis of neonatal leucine-sensitive hypoglycemia. Am J Dig Dis 15:65-72, 1970
-
(1970)
Am J Dig Dis
, vol.15
, pp. 65-72
-
-
Brown, R.E.1
Young, R.B.2
-
12
-
-
0018851716
-
Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy
-
JAFFE R, HASHIDA Y, YUNIS EJ: Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy. Lab Invest 42:356-365, 1980
-
(1980)
Lab Invest
, vol.42
, pp. 356-365
-
-
Jaffe, R.1
Hashida, Y.2
Yunis, E.J.3
-
13
-
-
0021320297
-
The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: Deficiency of pancreatic D cells or hyperactivity of B cells?
-
RAHIER J, FALT K, MUNTEFERING H, BECKER K, GERTS W, FALKMER S: The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: Deficiency of pancreatic D cells or hyperactivity of B cells? Diabetologia 26:282-289, 1984
-
(1984)
Diabetologia
, vol.26
, pp. 282-289
-
-
Rahier, J.1
Falt, K.2
Muntefering, H.3
Becker, K.4
Gerts, W.5
Falkmer, S.6
-
14
-
-
0024339361
-
Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia
-
GOOSSENS A, GEPTS W, SAUDUBRAY JM, BONNEFONT JP, NIIIOUL F, HEITZ PL), KLoPPEL G: Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am J Surg Patliol 13:766-775, 1989
-
(1989)
Am J Surg Patliol
, vol.13
, pp. 766-775
-
-
Goossens, A.1
Gepts, W.2
Saudubray, J.M.3
Bonnefont, J.P.4
Niiioul, F.5
Heitz, P.L.6
Kloppel, G.7
-
15
-
-
0030880778
-
Somatic deletion of the imprinted llplS region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.y
-
DE LONLAY P, FOURNET J, RAHIER J, GROSS-MORAND M, POGGITRAVERT F, POUSSIER V, BONNEFONT J, BRUSSET M, BRUNELLE F, ROBERT J, NIHOUL-FEKETE CJS, JUNIEN C: Somatic deletion of the imprinted llplS region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.y Clin Invest 100:802-807, 1997
-
(1997)
Clin Invest
, vol.100
, pp. 802-807
-
-
De Lonlay, P.1
Fournet, J.2
Rahier, J.3
Gross-Morand, M.4
Poggitravert, F.5
Poussier, V.6
Bonnefont, J.7
Brusset, M.8
Brunelle, F.9
Robert, J.10
Cjs, N.-F.11
Junien, C.12
-
16
-
-
0032190017
-
Paternal mutation of the sulfonylurea receptor (SURI) gene and maternal loss of llplS imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J
-
VERKARRE V, DE FOURNET JC, LONLAY P, GROSS-MORAND MS, DEVILLERS M, RAHIER J, BRUNELLE F, ROBERT JJ, NIHOUL-FEKETE C, SAUDUBRAY JM, JUNIEN C: Paternal mutation of the sulfonylurea receptor (SURI) gene and maternal loss of llplS imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 102:1286-1291, 1998
-
(1998)
Clin Invest
, vol.102
, pp. 1286-1291
-
-
Verkarre, V.1
De Fournet, J.C.2
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
-
17
-
-
0028236583
-
Familial hyperinsulinism maps to chromosome Ilpl4-15.1, 30 cM centromeric to the insulin gene
-
GLASER B, Ciuu KC, ANKER R, NESTOROWICZ A, LANDAU H, BENBASSAT H, SHLOMAI Z, KAISER N, THORNTON PS, STANLEY CA, SPIELMAN RS, GOGOLIN-EWENS K, CERASI E, BAKER L, RICE J, DONIS-KELLER H, PERMUTT MA: Familial hyperinsulinism maps to chromosome Ilpl4-15.1, 30 cM centromeric to the insulin gene. Nat Genet 7:185-188, 1994
-
(1994)
Nat Genet
, vol.7
, pp. 185-188
-
-
Glaser, B.1
Ciuu, K.C.2
Anker, R.3
Nestorowicz, A.4
Landau, H.5
Benbassat, H.6
Shlomai, Z.7
Kaiser, N.8
Thornton, P.S.9
Stanley, C.A.10
Spielman, R.S.11
Gogolin-Ewens, K.12
Cerasi, E.13
Baker, L.14
Rice, J.15
Donis-Keller, H.16
Permutt, M.A.17
-
18
-
-
0029036747
-
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome llplS.l and demonstration of a founder effect in Ashkenazi Jews
-
GLASER B, Cum KC, Liu L, ANKER R, NESTOROWICZ A, Cox NJ, LANDAU H, KAISER N, THORNTON PS, STANLEY CA, CERASI E, BAKER L, DONIS-KELLER H, PERMUTT MA: Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome llplS.l and demonstration of a founder effect in Ashkenazi Jews. Hum Mol Genet 4:879-886, 1995
-
(1995)
Hum Mol Genet
, vol.4
, pp. 879-886
-
-
Glaser, B.1
Cum, K.C.2
Liu, L.3
Anker, R.4
Nestorowicz, A.5
Cox, N.J.6
Landau, H.7
Kaiser, N.8
Thornton, P.S.9
Stanley, C.A.10
Cerasi, E.11
Baker, L.12
Donis-Keller, H.13
Permutt, M.A.14
-
19
-
-
0028801579
-
Homozygosity mapping of the gene for familial persistent hyperinsulinemic hypoglycemiaof infancy to chromosome lip
-
THOMAS PM, COTE G J, HALLMAN DM, MATIIEW FM: Homozygosity mapping of the gene for familial persistent hyperinsulinemic hypoglycemiaof infancy to chromosome lip. Am J Hum Genet 56:416-421, 1995
-
(1995)
Am J Hum Genet
, vol.56
, pp. 416-421
-
-
Thomas, P.M.1
Cote, G.J.2
Hallman, D.M.3
Matiiew, F.M.4
-
20
-
-
0029024314
-
Cloning of the beta cell high-affinity sulfonylurea receptor: A regulator of insulin secretion
-
AOUILAR-BRYAN L, NICHOLS CG, WECHSLER SW, CLEMENT JP IV, BOYD AE III, GONZALEZ G, HERRERA-SOSA H, NGUY K, BRYAN J, NELSON DA: Cloning of the beta cell high-affinity sulfonylurea receptor: A regulator of insulin secretion. Science 268:423-426, 1995
-
(1995)
Science
, vol.268
, pp. 423-426
-
-
Aouilar-Bryan, L.1
Nichols, C.G.2
Wechsler, S.W.3
Clement, J.P.4
Boyd, A.E.5
Gonzalez, G.6
Herrera-Sosa, H.7
Nguy, K.8
Bryan, J.9
Nelson, D.A.10
-
21
-
-
0028972501
-
Reconstitution of IKATP: An inward rectifier subunit plus the sulfonylurea receptor
-
INAGAKI N, GONOI T, CLEMENT JP IV, NAMBA N, INAZAWA J, GONZALEZ G, AGUILAR-BRYAN L, SEINO S, BRYAN J: Reconstitution of IKATP: An inward rectifier subunit plus the sulfonylurea receptor. Science 270:1166-1170, 1995
-
(1995)
Science
, vol.270
, pp. 1166-1170
-
-
Inagaki, N.1
Gonoi, T.2
Clement, J.P.3
Namba, N.4
Inazawa, J.5
Gonzalez, G.6
Aguilar-Bryan, L.7
Seino, S.8
Bryan, J.9
-
22
-
-
0031848442
-
Cloning of the promoters for the beta-cell ATP-sensitive K-channel subunits Kir6.2 and SURI
-
ASHFIELD R, ASHCROFT SJ: Cloning of the promoters for the beta-cell ATP-sensitive K-channel subunits Kir6.2 and SURI. Diabetes 47:1274-1280, 1998
-
(1998)
Diabetes
, vol.47
, pp. 1274-1280
-
-
Ashfield, R.1
Ashcroft, S.J.2
-
23
-
-
0031917466
-
Towards understanding the assembly and structure of KATP channels
-
AGUILAR-BRYAN L, CLEMENT JP IV, GONZALEZ G, KUNJILWAR K, BABENKO A, BRYAN J: Towards understanding the assembly and structure of KATP channels. Pliysiol Rev 78:227-245, 1998
-
(1998)
Pliysiol Rev
, vol.78
, pp. 227-245
-
-
Aguilar-Bryan, L.1
Clement, J.P.2
Gonzalez, G.3
Kunjilwar, K.4
Babenko, A.5
Bryan, J.6
-
24
-
-
0031041271
-
Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor
-
DUNNE MJ, KANE C, SHEPHERD RM, SANCIIEZ JA, JAMES RFL, JOHNSON PRV, AYNSLEY-GREEN A, Lu S, CLEMENT IVJP, LINDLEY KJ, SEINO S, AGUILAR-BRYAN L: Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N EnSU Med 336:703-706, 1997
-
(1997)
N EnSU Med
, vol.336
, pp. 703-706
-
-
Dunne, M.J.1
Kane, C.2
Shepherd, R.M.3
Sanciiez, J.A.4
Rfl, J.5
Prv, J.6
Aynsley-Green, A.7
Lu, S.8
Ivjp, C.9
Lindley, K.J.10
Seino, S.11
Aguilar-Bryan, L.12
-
25
-
-
0029658788
-
ATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy
-
ATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nat Med 2:1344-1347, 1996
-
(1996)
Nat Med
, vol.2
, pp. 1344-1347
-
-
Kane, C.1
Shepherd, R.M.2
Squires, P.E.3
Johnson, P.R.4
James, R.F.5
Milla, P.J.6
Aynsley-Green, A.7
Lindley, K.J.8
Dünne, M.J.9
-
26
-
-
0029836983
-
Mutations of the pancreatic islet inward rectifier also lead to familial persistent hyperinsulinemic hypoglycemia of infancy
-
THOMAS P, YE Y, LIGHTNER E: Mutations of the pancreatic islet inward rectifier also lead to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 5:1809-1812, 1996
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1809-1812
-
-
Thomas, P.1
Lightner, E.2
-
27
-
-
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 KP, WILSON BA, GLASER B, LANDAU H, STANLEY CA, TIIORNTON PS, SEINO S, PERMUTT MA: A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 46:1743-1748, 1997
-
(1997)
Diabetes
, vol.46
, pp. 1743-1748
-
-
Nestorowicz, A.1
Inagaki, N.2
Gonoi, T.3
Kp, S.4
Wilson, B.A.5
Glaser, B.6
Landau, H.7
Stanley, C.A.8
Tiiornton, P.S.9
Seino, S.10
Permutt, M.A.11
-
28
-
-
0030016913
-
Adenosine diphosphate as an intracellular regulator of insulin secretion
-
NICHOLS CG, SHYNG SL, NESTOROWICZ A, GLASER B, CLEMENT JP IV, GONZALEZ G, AGUILAR-BRYAN L, PERMUTT MA, BRYAN J: Adenosine diphosphate as an intracellular regulator of insulin secretion. Science 272:1785-1787, 1996
-
(1996)
Science
, vol.272
, pp. 1785-1787
-
-
Nichols, C.G.1
Shyng, S.L.2
Nestorowicz, A.3
Glaser, B.4
Clement, J.P.5
Gonzalez, G.6
Aguilar-Bryan, L.7
Permutt, M.A.8
Bryan, J.9
-
29
-
-
0031799545
-
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy
-
SHYNG SL, FERRIGNI T, SHEPARD JB, NESTOROWICZ A, GLASER B, PERMUTT MA, NICHOLS CG: Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 47:1145-1151, 1998
-
(1998)
Diabetes
, vol.47
, pp. 1145-1151
-
-
Shyng, S.L.1
Ferrigni, T.2
Shepard, J.B.3
Nestorowicz, A.4
Glaser, B.5
Permutt, M.A.6
Nichols, C.G.7
-
30
-
-
0030996141
-
ATP channel subunits
-
ATP channel subunits. Neuron 18:827-538, 1997
-
(1997)
Neuron
, vol.18
, pp. 827-1538
-
-
Clement, J.P.1
Kunjilwar, K.2
Gonzalez, G.3
Schwanstecher, M.4
Panten, U.5
Aguilar-Bryan, L.6
Bryan, J.7
|