-
2
-
-
0017617191
-
Neonatal and infantile hypoglycemia due to insulin excess: New aspects of diagnosis and surgical management
-
Thomas CG Jr, Underwood LE, Carney CN, Dolcourt JL, Whitt JJ: Neonatal and infantile hypoglycemia due to insulin excess: new aspects of diagnosis and surgical management. Ann Surg 1977;185:505-517.
-
(1977)
Ann Surg
, vol.185
, pp. 505-517
-
-
Thomas Jr., C.G.1
Underwood, L.E.2
Carney, C.N.3
Dolcourt, J.L.4
Whitt, J.J.5
-
3
-
-
0025233448
-
Hypoglycemia in infancy: The need for a rational definition
-
A Ciba Foundation discussion meeting
-
Cornblath M, Schwartz R, Aynsley-Green A, Lloyd JK: Hypoglycemia in infancy: the need for a rational definition. A Ciba Foundation discussion meeting. Pediatrics 1990;85:834-837.
-
(1990)
Pediatrics
, vol.85
, pp. 834-837
-
-
Cornblath, M.1
Schwartz, R.2
Aynsley-Green, A.3
Lloyd, J.K.4
-
4
-
-
0034067782
-
Practical management of hyperinsulinism in infancy
-
Aynsley-Green A, Hussain K, Hall J, Saudubray JM, Nihoul-Fekete C, De Lonlay-Debeney P, Brunelle F, Otonkoski T, Thornton P, Lindley KJ: Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed 2000;82:F98-F107.
-
(2000)
Arch Dis Child Fetal Neonatal Ed
, vol.82
-
-
Aynsley-Green, A.1
Hussain, K.2
Hall, J.3
Saudubray, J.M.4
Nihoul-Fekete, C.5
De Lonlay-Debeney, P.6
Brunelle, F.7
Otonkoski, T.8
Thornton, P.9
Lindley, K.J.10
-
5
-
-
0033560687
-
Clinical features of 52 neonates with hyperinsulinism
-
De Lonlay-Debeney P, Poggi-Travert F, Fournet JC, Sempoux C, Vici CD, Brunelle F, Touati G, Rahier J, Junien C, Nihoul-Fekete C, Robert JJ, Saudubray JM: Clinical features of 52 neonates with hyperinsulinism. N Engl J Med 1999;340:1169-1175.
-
(1999)
N 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-Fekete, C.10
Robert, J.J.11
Saudubray, J.M.12
-
6
-
-
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, Bryan J, Aguilar-Bryan L, Permutt MA: Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet 1996;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.9
Bryan, J.10
Aguilar-Bryan, L.11
Permutt, M.A.12
-
7
-
-
0029683205
-
The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas PM, Cote GJ, Wohllk N, Mathew PM, Gagel RF: The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy. Proc Assoc Am Physicians 1996;108:14-19.
-
(1996)
Proc Assoc Am Physicians
, vol.108
, pp. 14-19
-
-
Thomas, P.M.1
Cote, G.J.2
Wohllk, N.3
Mathew, P.M.4
Gagel, R.F.5
-
8
-
-
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: Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 1998;338:226-230.
-
(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.C.11
-
9
-
-
0032493123
-
Hyperinsulinism and hyperammonaemia in infants with regulatory mutations of the glutamate dehydrogenase gene
-
Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M: Hyperinsulinism and hyperammonaemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998;338:1352-1357.
-
(1998)
N 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
-
10
-
-
0034902277
-
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion
-
Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE: Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion. J Clin Invest 2001;108:457-465.
-
(2001)
J Clin Invest
, vol.108
, pp. 457-465
-
-
Clayton, P.T.1
Eaton, S.2
Aynsley-Green, A.3
Edginton, M.4
Hussain, K.5
Krywawych, S.6
Datta, V.7
Malingre, H.E.8
Berger, R.9
Van Den Berg, I.E.10
-
11
-
-
0037158471
-
Facial appearance in persistent hyperinsulinemic hypoglycemia
-
De Lonlay P, Cormier-Daire V, Amiel J, Touati G, Goldenberg A, Fournet JC, Brunelle F, Nihoul-Fekete C, Rahier J, Junien C, Robert JJ, Saudubray JM: Facial appearance in persistent hyperinsulinemic hypoglycemia. Am J Med Genet 2002;111:130-133.
-
(2002)
Am J Med Genet
, vol.111
, pp. 130-133
-
-
De Lonlay, P.1
Cormier-Daire, V.2
Amiel, J.3
Touati, G.4
Goldenberg, A.5
Fournet, J.C.6
Brunelle, F.7
Nihoul-Fekete, C.8
Rahier, J.9
Junien, C.10
Robert, J.J.11
Saudubray, J.M.12
-
12
-
-
14844302859
-
Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations
-
Raizen DM, Brooks-Kayal A, Steinkrauss L, Tennekoon GI, Stanley CA, Kelly A: Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations. J Pediatr 2005;146:388-394.
-
(2005)
J Pediatr
, vol.146
, pp. 388-394
-
-
Raizen, D.M.1
Brooks-Kayal, A.2
Steinkrauss, L.3
Tennekoon, G.I.4
Stanley, C.A.5
Kelly, A.6
-
13
-
-
0025982490
-
Current status of pancreatectomy for persistent idiopathic neonatal hypoglycemia due to islet cell dysplasia
-
Filler RM, Weinberg MJ, Cutz E, Wesson DE, Ehrlich RM: Current status of pancreatectomy for persistent idiopathic neonatal hypoglycemia due to islet cell dysplasia. Prog Pediatr Surg 1991;26:60-75.
-
(1991)
Prog Pediatr Surg
, vol.26
, pp. 60-75
-
-
Filler, R.M.1
Weinberg, M.J.2
Cutz, E.3
Wesson, D.E.4
Ehrlich, R.M.5
-
14
-
-
0036135191
-
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases
-
De Lonlay P, Fournet JC, Touati G, Groos MS, Martin D, Sevin C, Delagne V, Mayaud C, Chigot V, Sempoux C, Brusset MC, Laborde K, Bellane-Chantelot C, Vassault A, Rahier J, Junien C, Brunelle F, Nihoul-Fekete C, Saudubray JM, Robert JJ: Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. Eur J Pediatr 2002;161:37-48.
-
(2002)
Eur J Pediatr
, vol.161
, pp. 37-48
-
-
De Lonlay, P.1
Fournet, J.C.2
Touati, G.3
Groos, M.S.4
Martin, D.5
Sevin, C.6
Delagne, V.7
Mayaud, C.8
Chigot, V.9
Sempoux, C.10
Brusset, M.C.11
Laborde, K.12
Bellane-Chantelot, C.13
Vassault, A.14
Rahier, J.15
Junien, C.16
Brunelle, F.17
Nihoul-Fekete, C.18
Saudubray, J.M.19
Robert, J.J.20
more..
-
15
-
-
0036136040
-
Clinical and genetic heterogeneity in congenital hyperinsulinism
-
Meissner T, Mayatepek E: Clinical and genetic heterogeneity in congenital hyperinsulinism. Eur J Pediatr 2002;161:6-20.
-
(2002)
Eur J Pediatr
, vol.161
, pp. 6-20
-
-
Meissner, T.1
Mayatepek, E.2
-
16
-
-
0033496629
-
Focal and diffuse β-cell changes in persistent hyperinsulinemic hypoglycemia of infancy
-
Kloppel G, Reinecke-Luthge A, Koschoreck F: Focal and diffuse β-cell changes in persistent hyperinsulinemic hypoglycemia of infancy. Endocr Pathol 1999;10:299-304.
-
(1999)
Endocr Pathol
, vol.10
, pp. 299-304
-
-
Kloppel, G.1
Reinecke-Luthge, A.2
Koschoreck, F.3
-
17
-
-
0037341243
-
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: Morphological and molecular studies show structural and functional differences with insulinoma
-
Sempoux C, Guiot Y, Dahan K, Moulin P, Stevens M, Lambot V, de Lonlay P, Fournet JC, Junien C, Jaubert F, Nihoul-Fekete C, Saudubray JM, Rahier J: The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. Diabetes 2003;52:784-794.
-
(2003)
Diabetes
, vol.52
, pp. 784-794
-
-
Sempoux, C.1
Guiot, Y.2
Dahan, K.3
Moulin, P.4
Stevens, M.5
Lambot, V.6
De Lonlay, P.7
Fournet, J.C.8
Junien, C.9
Jaubert, F.10
Nihoul-Fekete, C.11
Saudubray, J.M.12
Rahier, J.13
-
18
-
-
0018851716
-
Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy
-
Jaffe R, Hashida Y, Yunis EJ: Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy. Lab Invest 1980;42:356-365.
-
(1980)
Lab Invest
, vol.42
, pp. 356-365
-
-
Jaffe, R.1
Hashida, Y.2
Yunis, E.J.3
-
19
-
-
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, Gepts W, Falkmer S: The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells? Diabetologia 1984;26:282-289.
-
(1984)
Diabetologia
, vol.26
, pp. 282-289
-
-
Rahier, J.1
Falt, K.2
Muntefering, H.3
Becker, K.4
Gepts, W.5
Falkmer, S.6
-
20
-
-
0031782335
-
Neonatal hyperinsulinemic hypoglycemia: Heterogeneity of the syndrome and keys for differential diagnosis
-
Sempoux C, Guiot Y, Lefevre A, Nihoul-Fekete C, Jaubert F, Saudubray JM, Rahier J: Neonatal hyperinsulinemic hypoglycemia: heterogeneity of the syndrome and keys for differential diagnosis. J Clin Endocrinol Metab 1998;83:1455-1461.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 1455-1461
-
-
Sempoux, C.1
Guiot, Y.2
Lefevre, A.3
Nihoul-Fekete, C.4
Jaubert, F.5
Saudubray, J.M.6
Rahier, J.7
-
21
-
-
0031936418
-
Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: The pathologist's role
-
Rahier J, Sempoux C, Fournet JC, Poggi F, Brunelle F, Nihoul-Fekete C, Saudubray JM, Jaubert F: Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role. Histopathology 1998;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-Fekete, C.6
Saudubray, J.M.7
Jaubert, F.8
-
22
-
-
0029603625
-
Nesidioblastosis and persistent neonatal hyperinsulinism
-
Sempoux C, Poggi F, Brunelle F, Saudubray JM, Fekete C, Rahier J: Nesidioblastosis and persistent neonatal hyperinsulinism. Diabete Metab 1995;21:402-407.
-
(1995)
Diabete Metab
, vol.21
, pp. 402-407
-
-
Sempoux, C.1
Poggi, F.2
Brunelle, F.3
Saudubray, J.M.4
Fekete, C.5
Rahier, J.6
-
23
-
-
0024495419
-
Pancreatic venous samplings in infants and children with primary hyperinsulinism
-
Brunelle F, Negre V, Barth MO, Fekete CN, Czernichow P, Saudubray JM, Kuntz F, Tach T, Lallemand D: Pancreatic venous samplings in infants and children with primary hyperinsulinism. Pediatr Radiol 1989;19:100-103.
-
(1989)
Pediatr Radiol
, vol.19
, pp. 100-103
-
-
Brunelle, F.1
Negre, V.2
Barth, M.O.3
Fekete, C.N.4
Czernichow, P.5
Saudubray, J.M.6
Kuntz, F.7
Tach, T.8
Lallemand, D.9
-
24
-
-
0034874373
-
Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyper insulinemic hypoglycaemia of infancy
-
Chigot V, De Lonlay P, Nassogne MC, Laborde K, Delagne V, Fournet JC, Nihoul-Fekete C, Saudubray JM, Brunelle F: Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyper insulinemic hypoglycaemia of infancy. Pediatr Radiol 2001;31:650-655.
-
(2001)
Pediatr Radiol
, vol.31
, pp. 650-655
-
-
Chigot, V.1
De Lonlay, P.2
Nassogne, M.C.3
Laborde, K.4
Delagne, V.5
Fournet, J.C.6
Nihoul-Fekete, C.7
Saudubray, J.M.8
Brunelle, F.9
-
25
-
-
19644398630
-
18F-fluoro-L-dopa
-
18F-fluoro-L-dopa. J Nucl Med 2005;46:560-566.
-
(2005)
J Nucl Med
, vol.46
, pp. 560-566
-
-
Ribeiro, M.J.1
De Lonlay, P.2
Delzescaux, T.3
Boddaert, N.4
Jaubert, F.5
Bourgeois, S.6
Dolle, F.7
Nihoul-Fekete, C.8
Syrota, A.9
Brunelle, F.10
-
26
-
-
33644782807
-
18F]-dopa positron emission tomography
-
18F]-dopa positron emission tomography. Diabetes 2006;55:13-18.
-
(2006)
Diabetes
, vol.55
, pp. 13-18
-
-
Otonkoski, T.1
Nanto-Salonen, K.2
Seppanen, M.3
Veijola, R.4
Huopio, H.5
Hussain, K.6
Tapanainen, P.7
Eskola, O.8
Parkkola, R.9
Ekstrom, K.10
Guiot, Y.11
Rahier, J.12
Laakso, M.13
Rintala, R.14
Nuutila, P.15
Minn, H.16
-
27
-
-
0031856155
-
Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: A retrospective review of 77 cases and analysis of efficacy-predicting criteria
-
Touati G, Poggi-Travert F, Ogier de Baulny H, Rahier J, Brunelle F, Nihoul-Fekete C, Czernichow P, Saudubray JM: Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria. Eur J Pediatr 1998;157:628-633.
-
(1998)
Eur J Pediatr
, vol.157
, pp. 628-633
-
-
Touati, G.1
Poggi-Travert, F.2
Ogier De Baulny, H.3
Rahier, J.4
Brunelle, F.5
Nihoul-Fekete, C.6
Czernichow, P.7
Saudubray, J.M.8
-
28
-
-
27644549305
-
Factitious hyperinsulinism leading to pancreatectomy: Severe forms of Munchausen syndrome by proxy
-
Giurgea I, Ulinski T, Touati G, Sempoux C, Mochel F, Brunelle F, Saudubray JM, Fekete C, de Lonlay P: Factitious hyperinsulinism leading to pancreatectomy: severe forms of Munchausen syndrome by proxy. Pediatrics 2005;116:e145-e148.
-
(2005)
Pediatrics
, vol.116
-
-
Giurgea, I.1
Ulinski, T.2
Touati, G.3
Sempoux, C.4
Mochel, F.5
Brunelle, F.6
Saudubray, J.M.7
Fekete, C.8
De Lonlay, P.9
-
29
-
-
0035145905
-
Hyperinsulinism of infancy: The regulated release of insulin by KATP channel-independent pathways
-
Straub SG, Cosgrove KE, Ammala C, Shepherd RM, O'Brien RE, Barnes PD, Kuchinski N, Chapman JC, Schaeppi M, Glaser B, Lindley KJ, Sharp GW, Aynsley-Green A, Dunne MJ: Hyperinsulinism of infancy: the regulated release of insulin by KATP channel-independent pathways. Diabetes 2001;50:329-339.
-
(2001)
Diabetes
, vol.50
, pp. 329-339
-
-
Straub, S.G.1
Cosgrove, K.E.2
Ammala, C.3
Shepherd, R.M.4
O'Brien, R.E.5
Barnes, P.D.6
Kuchinski, N.7
Chapman, J.C.8
Schaeppi, M.9
Glaser, B.10
Lindley, K.J.11
Sharp, G.W.12
Aynsley-Green, A.13
Dunne, M.J.14
-
30
-
-
0036846468
-
BPDZ 154 activates adenosine 5′-triphosphate-sensitive potassium channels: In vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism
-
Cosgrove KE, Antoine MH, Lee AT, Barnes PD, de Tullio P, Clayton P, McCloy R, De Lonlay P, Nihoul-Fekete C, Robert JJ, Saudubray JM, Rahier J, Lindley KJ, Hussain K, Aynsley-Green A, Pirotte B, Lebrun P, Dunne MJ: BPDZ 154 activates adenosine 5′-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism. J Clin Endocrinol Metab 2002;87:4860-4868.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4860-4868
-
-
Cosgrove, K.E.1
Antoine, M.H.2
Lee, A.T.3
Barnes, P.D.4
De Tullio, P.5
Clayton, P.6
McCloy, R.7
De Lonlay, P.8
Nihoul-Fekete, C.9
Robert, J.J.10
Saudubray, J.M.11
Rahier, J.12
Lindley, K.J.13
Hussain, K.14
Aynsley-Green, A.15
Pirotte, B.16
Lebrun, P.17
Dunne, M.J.18
-
32
-
-
0347359228
-
Hyperinsulinism in infancy: From basic science to clinical disease
-
Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ: Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev 2004;84:239-275.
-
(2004)
Physiol Rev
, vol.84
, pp. 239-275
-
-
Dunne, M.J.1
Cosgrove, K.E.2
Shepherd, R.M.3
Aynsley-Green, A.4
Lindley, K.J.5
-
33
-
-
33645221787
-
Mutations in the genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism
-
Gloyn AL, Siddiqui J, Ellard S: Mutations in the genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat 2006;27:220-231.
-
(2006)
Hum Mutat
, vol.27
, pp. 220-231
-
-
Gloyn, A.L.1
Siddiqui, J.2
Ellard, S.3
-
34
-
-
33745952809
-
Mutation spectra of ABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI)
-
Fernandez-Marmiesse A, Salas A, Vega A, Fernandez-Lorenzo JR, Barreiro J, Carracedo A: Mutation spectra of ABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI). Hum Mutat 2006;27:214.
-
(2006)
Hum Mutat
, vol.27
, pp. 214
-
-
Fernandez-Marmiesse, A.1
Salas, A.2
Vega, A.3
Fernandez-Lorenzo, J.R.4
Barreiro, J.5
Carracedo, A.6
-
35
-
-
17144452397
-
Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: Nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1
-
Tanizawa Y, Matsuda K, Matsuo M, Ohta Y, Ochi N, Adachi M, Koga M, Mizuno S, Kajita M, Tanaka Y, Tachibana K, Inoue H, Furukawa S, Amachi T, Ueda K, Oka Y: Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1. Diabetes 2000;49:114-120.
-
(2000)
Diabetes
, vol.49
, pp. 114-120
-
-
Tanizawa, Y.1
Matsuda, K.2
Matsuo, M.3
Ohta, Y.4
Ochi, N.5
Adachi, M.6
Koga, M.7
Mizuno, S.8
Kajita, M.9
Tanaka, Y.10
Tachibana, K.11
Inoue, H.12
Furukawa, S.13
Amachi, T.14
Ueda, K.15
Oka, Y.16
-
36
-
-
0036833473
-
Advances in diagnosis and treatment of hyperinsulinism in infants and children
-
Stanley CA: Advances in diagnosis and treatment of hyperinsulinism in infants and children. J Clin Endocrinol Metab 2002;87:4857-4859.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4857-4859
-
-
Stanley, C.A.1
-
37
-
-
0034970925
-
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: Association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11
-
Fournet JC, Mayaud C, de Lonlay P, Gross-Morand MS, Verkarre V, Castanet M, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fekete C, Saudubray JM, Junien C: Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. Am J Pathol 2001;158:2177-2184.
-
(2001)
Am J Pathol
, vol.158
, pp. 2177-2184
-
-
Fournet, J.C.1
Mayaud, C.2
De Lonlay, P.3
Gross-Morand, M.S.4
Verkarre, V.5
Castanet, M.6
Devillers, M.7
Rahier, J.8
Brunelle, F.9
Robert, J.J.10
Nihoul-Fekete, C.11
Saudubray, J.M.12
Junien, C.13
-
38
-
-
0024339361
-
Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia
-
Goossens A, Gepts W, Saudubray JM, Bonnefont JP, Nihoul F, Heitz PU, Kloppel G: Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am J Surg Pathol 1989;13:766-775.
-
(1989)
Am J Surg Pathol
, vol.13
, pp. 766-775
-
-
Goossens, A.1
Gepts, W.2
Saudubray, J.M.3
Bonnefont, J.P.4
Nihoul, F.5
Heitz, P.U.6
Kloppel, G.7
-
39
-
-
0034119682
-
Persistent hyperinsulinaemic hypoglycaemia of infancy: A heterogeneous syndrome unrelated to nesidioblastosis
-
Rahier J, Guiot Y, Sempoux C: Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis. Arch Dis Child Fetal Neonatal Ed 2000;82:F108-F112.
-
(2000)
Arch Dis Child Fetal Neonatal Ed
, vol.82
-
-
Rahier, J.1
Guiot, Y.2
Sempoux, C.3
-
40
-
-
0035122262
-
The focal form of persistent hyperinsulinemic hypoglycemia of infancy
-
Sempoux C, Guiot Y, Rahier J: The focal form of persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 2001;50(suppl 1):S182-S183.
-
(2001)
Diabetes
, vol.50
, Issue.SUPPL. 1
-
-
Sempoux, C.1
Guiot, Y.2
Rahier, J.3
-
41
-
-
33749568929
-
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism
-
Aug 1 [Epub ahead of print]
-
Giurgea I, Sempoux C, Bellanne-Chantelot C, Ribeiro M, Hubert L, Boddaert N, Saudubray JM, Robert JJ, Brunelle F, Rahier J, Jaubert F, Nihoul-Fekete C, de Lonlay P: The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism. J Clin Endocrinol Metab 2006, Aug 1 [Epub ahead of print].
-
(2006)
J Clin Endocrinol Metab
-
-
Giurgea, I.1
Sempoux, C.2
Bellanne-Chantelot, C.3
Ribeiro, M.4
Hubert, L.5
Boddaert, N.6
Saudubray, J.M.7
Robert, J.J.8
Brunelle, F.9
Rahier, J.10
Jaubert, F.11
Nihoul-Fekete, C.12
De Lonlay, P.13
-
42
-
-
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, Thornton PS, Seino S, Permutt MA: A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 1997;46:1743-1748.
-
(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
-
43
-
-
0034029974
-
Molecular basis and characterization of the hyperinsulinism/ hyperammonaemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene
-
HI/HA contributing investigators
-
Stanley CA, Fang J, Kutyna K, Hsu BY, Ming JE, Glaser B, Poncz M: Molecular basis and characterization of the hyperinsulinism/hyperammonaemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA contributing investigators. Diabetes 2000;49:667-673.
-
(2000)
Diabetes
, vol.49
, pp. 667-673
-
-
Stanley, C.A.1
Fang, J.2
Kutyna, K.3
Hsu, B.Y.4
Ming, J.E.5
Glaser, B.6
Poncz, M.7
-
44
-
-
2542610014
-
A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene
-
Hojlund K, Hansen T, Lajer M, Henriksen JE, Levin K, Lindholm J, Pedersen O, Beck-Nielsen H: A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. Diabetes 2004;53:1592-1598.
-
(2004)
Diabetes
, vol.53
, pp. 1592-1598
-
-
Hojlund, K.1
Hansen, T.2
Lajer, M.3
Henriksen, J.E.4
Levin, K.5
Lindholm, J.6
Pedersen, O.7
Beck-Nielsen, H.8
-
45
-
-
0037221769
-
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release
-
Otonkoski T, Kaminen N, Ustinov J, Lapatto R, Meissner T, Mayatepek E, Kere J, Sipila I: Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes 2003;52:199-204.
-
(2003)
Diabetes
, vol.52
, pp. 199-204
-
-
Otonkoski, T.1
Kaminen, N.2
Ustinov, J.3
Lapatto, R.4
Meissner, T.5
Mayatepek, E.6
Kere, J.7
Sipila, I.8
-
46
-
-
0036182963
-
Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects
-
DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP: Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet 2002;70:604-611.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 604-611
-
-
DeBaun, M.R.1
Niemitz, E.L.2
McNeil, D.E.3
Brandenburg, S.A.4
Lee, M.P.5
Feinberg, A.P.6
-
47
-
-
0033615472
-
Perlman syndrome: Four additional cases and review
-
Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ: Perlman syndrome: four additional cases and review. Am J Med Genet 1999;86:439-446.
-
(1999)
Am J Med Genet
, vol.86
, pp. 439-446
-
-
Henneveld, H.T.1
Van Lingen, R.A.2
Hamel, B.C.3
Stolte-Dijkstra, I.4
Van Essen, A.J.5
-
48
-
-
12144288309
-
Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome
-
Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L: Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet 2004;74:715-720.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 715-720
-
-
Baujat, G.1
Rio, M.2
Rossignol, S.3
Sanlaville, D.4
Lyonnet, S.5
Le Merrer, M.6
Munnich, A.7
Gicquel, C.8
Cormier-Daire, V.9
Colleaux, L.10
-
49
-
-
0025738681
-
Uniparental paternal disomy in a genetic cancer-predisposing syndrome
-
Henry I, Bonaiti-Pellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C: Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 1991;351:665-667.
-
(1991)
Nature
, vol.351
, pp. 665-667
-
-
Henry, I.1
Bonaiti-Pellie, C.2
Chehensse, V.3
Beldjord, C.4
Schwartz, C.5
Utermann, G.6
Junien, C.7
-
50
-
-
0027420362
-
Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome
-
Weksberg R, Shen DR, Fei YL, Song QL, Squire J: Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet 1993;5:143-150.
-
(1993)
Nat Genet
, vol.5
, pp. 143-150
-
-
Weksberg, R.1
Shen, D.R.2
Fei, Y.L.3
Song, Q.L.4
Squire, J.5
-
51
-
-
0023011534
-
An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13-pter: Correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome
-
Okano Y, Osasa Y, Yamamoto H, Hase Y, Tsuruhara T, Fujita H: An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13-pter: correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndrome. Jinrui Idengaku Zasshi 1986;31:365-372.
-
(1986)
Jinrui Idengaku Zasshi
, vol.31
, pp. 365-372
-
-
Okano, Y.1
Osasa, Y.2
Yamamoto, H.3
Hase, Y.4
Tsuruhara, T.5
Fujita, H.6
-
52
-
-
16044364516
-
An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome
-
Hatada I, Ohashi H, Fukushima Y, Kaneko Y, Inoue M, Komoto Y, Okada A, Ohishi S, Nabetani A, Morisaki H, Nakayama M, Niikawa N, Mukai T: An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet 1996;14:171-173.
-
(1996)
Nat Genet
, vol.14
, pp. 171-173
-
-
Hatada, I.1
Ohashi, H.2
Fukushima, Y.3
Kaneko, Y.4
Inoue, M.5
Komoto, Y.6
Okada, A.7
Ohishi, S.8
Nabetani, A.9
Morisaki, H.10
Nakayama, M.11
Niikawa, N.12
Mukai, T.13
-
53
-
-
0024232789
-
Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome
-
Henry I, Jeanpierre M, Barichard F, Serre JL, Mallet J, Turleau C, de Grouchy J, Junien C: Duplication of HRAS1, INS, and IGF2 is not a common event in Beckwith-Wiedemann syndrome. Ann Genet 1988;31:216-220.
-
(1988)
Ann Genet
, vol.31
, pp. 216-220
-
-
Henry, I.1
Jeanpierre, M.2
Barichard, F.3
Serre, J.L.4
Mallet, J.5
Turleau, C.6
De Grouchy, J.7
Junien, C.8
-
54
-
-
0022514590
-
Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome
-
Spritz RA, Mager D, Pauli RM, Laxova R: Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome. Am J Hum Genet 1986;39:265-273.
-
(1986)
Am J Hum Genet
, vol.39
, pp. 265-273
-
-
Spritz, R.A.1
Mager, D.2
Pauli, R.M.3
Laxova, R.4
-
55
-
-
33645112746
-
Congenital hyperinsulinism and mosaic abnormalities of the ploidy
-
Giurgea I, Sanlaville D, Fournet JC, Sempoux C, Bellanne-Chantelot C, Touati G, Hubert L, Groos MS, Brunelle F, Rahier J, Henquin JC, Dunne MJ, Jaubert F, Robert JJ, Nihoul-Fekete C, Vekemans M, Junien C, de Lonlay P: Congenital hyperinsulinism and mosaic abnormalities of the ploidy. J Med Genet 2006;43:248-254.
-
(2006)
J Med Genet
, vol.43
, pp. 248-254
-
-
Giurgea, I.1
Sanlaville, D.2
Fournet, J.C.3
Sempoux, C.4
Bellanne-Chantelot, C.5
Touati, G.6
Hubert, L.7
Groos, M.S.8
Brunelle, F.9
Rahier, J.10
Henquin, J.C.11
Dunne, M.J.12
Jaubert, F.13
Robert, J.J.14
Nihoul-Fekete, C.15
Vekemans, M.16
Junien, C.17
De Lonlay, P.18
|