-
1
-
-
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
-
2
-
-
0030936881
-
Hyperinsulinism in infants and children
-
Stanley, C. 1997. Hyperinsulinism in infants and children. Ped. Clin. N. Am. 44:363.
-
(1997)
Ped. Clin. N. Am.
, vol.44
, pp. 363
-
-
Stanley, C.1
-
3
-
-
0023837804
-
Persistent neonatal hyperinsulinism
-
Mathew, P., J. Young, O. Abu, B. Mulhern, S. Hammoudi, J. Harndan, and A. Saadi. 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
Harndan, J.6
Saadi, A.7
-
4
-
-
0031045497
-
Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate?
-
Shilyanski, J., S. Fisher, E. Cutz, K. Perlman, and R. Filler. 1997. Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate? J. Pediatr. Surg. 32:342-346.
-
(1997)
J. Pediatr. Surg.
, vol.32
, pp. 342-346
-
-
Shilyanski, J.1
Fisher, S.2
Cutz, E.3
Perlman, K.4
Filler, R.5
-
5
-
-
0029658241
-
Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
-
Nestorowicz, A., B.A. Wilson, K.P. Schoor, H. Inoue, B. Glaser, H. Landau, C.A. Stanley, P.S. Thornlon, J.P. Clement IV, J. Bryan, et al. 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
Thornlon, P.S.8
Clement IV, J.P.9
Bryan, J.10
-
6
-
-
0029021696
-
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas, P.M., G.J. Cote, N. Wohllk, B. Haddad, P.M. Mathew, W. Rabl, L. Aguilar Bryan, R.F. Gagel, and J. Bryan. 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
Rabl, W.6
Aguilar Bryan, L.7
Gagel, R.F.8
Bryan, J.9
-
7
-
-
0029756638
-
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas, P.M., N. Wohllk, E. Huang, U. Kuhnle, W. Rabl, R.F. Gagel, and G.J. Cote, 1996. Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. Am. J. Hum. Genet. 59:510-518.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 510-518
-
-
Thomas, P.M.1
Wohllk, N.2
Huang, E.3
Kuhnle, U.4
Rabl, W.5
Gagel, R.F.6
Cote, G.J.7
-
8
-
-
0029836983
-
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas, P., Y. Ye, and E. Lightner. 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
-
9
-
-
15644367096
-
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism
-
Nestorowicz, A., N. Inagaki, T. Gonoi, K. Schoor, B. Wilson, B. Glaser, H. Landau, C. Stanley, P. Thornton, S. Seino, and M. Permutt. 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
-
10
-
-
0032493123
-
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
-
Stanley, C.A., Y.K. Lieu, B. Hsu, A.B. Burlina, C.R. Greenberg, N.J. Hopwood, K. Perlman, B.H. Rich, E. Zammarchi, and M. Poncz. 1998. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N. Engl. J. Med. 338:1352-1357.
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 1352-1357
-
-
Stanley, C.A.1
Lieu, Y.K.2
Hsu, B.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
-
-
0032556969
-
Familial hyperinsulinism caused by an activating glucokinase mutation
-
Glaser, B., P. Kesavan, M. Heyman, E. Davis, A. Cuesta, A. Buchs, C. Stanley, P. Thornton, A. Permutt, F. Matschinsky, and K. Herold. 1998. Familial hyperinsulinism caused by an activating glucokinase mutation. N. Engl. J. Med. 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.7
Thornton, P.8
Permutt, A.9
Matschinsky, F.10
Herold, K.11
-
12
-
-
0018851716
-
Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy
-
Jaffe, R., Y. Hashida, and E. Yunis. 1980. Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy. Lab. Invest. 42:356-365.
-
(1980)
Lab. Invest.
, vol.42
, pp. 356-365
-
-
Jaffe, R.1
Hashida, Y.2
Yunis, E.3
-
13
-
-
0024339361
-
Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia
-
Goossens, A., W. Gepts, J. Saudubray, J. Bonnefont, C. Nihoul-Fékété, P. Heitz, and G. Klöppel. 1989. Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am. J. Surg. Pathol. 13:766-775.
-
(1989)
Am. J. Surg. Pathol.
, vol.13
, pp. 766-775
-
-
Goossens, A.1
Gepts, W.2
Saudubray, J.3
Bonnefont, J.4
Nihoul-Fékété, C.5
Heitz, P.6
Klöppel, G.7
-
14
-
-
0009513136
-
Nesidioblastosis
-
E. Soleia, C. Capella, and G. Klöppel, editors. AFIP, Washington
-
Klöppel, G. 1997. Nesidioblastosis. In Tumors of the Pancreas. E. Soleia, C. Capella, and G. Klöppel, editors. AFIP, Washington. 238-243.
-
(1997)
Tumors of the Pancreas
, pp. 238-243
-
-
Klöppel, G.1
-
15
-
-
0031936418
-
Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: The pathologist's role
-
Rahier, J., C. Sempoux, J.-C. Fournet, F. Poggi, F. Brunelle, C. NihoulFékété, J.-M. Saudubray, and F. Jaubert. 1998. Partial or near-total pancreatectomy for persistent neonatal 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
Nihoulfékété, C.6
Saudubray, J.-M.7
Jaubert, F.8
-
16
-
-
0025982490
-
Current status of pancreatectomy for persistent idiopathic neonatal hypoglycemia due to islet cell dysplasia
-
Filler, R., M. Weinberg, E. Cruz, D. Wesson, and R. Ehrlich. 1991. Current status of pancreatectomy for persistent idiopathic neonatal hypoglycemia due to islet cell dysplasia. Prog. Pediatr. Surg. 26:60-75.
-
(1991)
Prog. Pediatr. Surg.
, vol.26
, pp. 60-75
-
-
Filler, R.1
Weinberg, M.2
Cruz, E.3
Wesson, D.4
Ehrlich, R.5
-
17
-
-
0029098644
-
Hyperinsulinism in children: Diagnosis value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases
-
Dubois, J., F. Brunelle, G. Touati, G. Sebag, C. Nuttin, T. Thach, C. Nihoul-Fékété, J. Rahier, and J. Saudubray. 1995. Hyperinsulinism in children: diagnosis value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. Pediatr. Radiol. 25:512-516.
-
(1995)
Pediatr. Radiol.
, vol.25
, pp. 512-516
-
-
Dubois, J.1
Brunelle, F.2
Touati, G.3
Sebag, G.4
Nuttin, C.5
Thach, T.6
Nihoul-Fékété, C.7
Rahier, J.8
Saudubray, J.9
-
18
-
-
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
-
De Lonlay, P., J.-C. Fournet, J. Rahier, M.-S. Gross-Morand, F. Poggitravers, V. Poussier, J.-P. Bonnefont, M.-C. Brusset, F. Brunelle, J.-J. Robert, et al. 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
Poggitravers, F.5
Poussier, V.6
Bonnefont, J.-P.7
Brusset, M.-C.8
Brunelle, F.9
Robert, J.-J.10
-
19
-
-
0027158855
-
Parental genomic imprinting of the human IGF2 gene
-
Giannoukakis, N., C. Deal, J. Paquette, C. Goodyer, and C. Polychronakos. 1993. Parental genomic imprinting of the human IGF2 gene. Nat. Genet. 4: 98-101.
-
(1993)
Nat. Genet.
, vol.4
, pp. 98-101
-
-
Giannoukakis, N.1
Deal, C.2
Paquette, J.3
Goodyer, C.4
Polychronakos, C.5
-
20
-
-
0029978017
-
Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15.5
-
Matsuoka, S., J.S. Thompson, M.C. Edwards, J.M. Barletta, P. Grundy, L.M. Kalikin, J.W. Harper, et al. 1996. Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15.5. Proc. Natl. Acad. Sci. USA. 93:3026-3030.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 3026-3030
-
-
Matsuoka, S.1
Thompson, J.S.2
Edwards, M.C.3
Barletta, J.M.4
Grundy, P.5
Kalikin, L.M.6
Harper, J.W.7
-
21
-
-
0029896367
-
Genomic imprinting of human p57KIP2 and its reduced expression in Wilms tumors
-
Hatada, L, J. Inazawa, T. Abe, M. Nakayama, K. Yasuhiko, Y. Jinno, N. Niikawa, S. Ohashi, F. Yoshimutsu, K. Iida, et al. 1996. Genomic imprinting of human p57KIP2 and its reduced expression in Wilms tumors. Hum. Mol. Genet. 5:783-788.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 783-788
-
-
Hatada, L.1
Inazawa, J.2
Abe, T.3
Nakayama, M.4
Yasuhiko, K.5
Jinno, Y.6
Niikawa, N.7
Ohashi, S.8
Yoshimutsu, F.9
Iida, K.10
-
22
-
-
0026849544
-
Monoallelic expression of the human H19 gene
-
Zhang, Y., and B. Tycko. 1992. Monoallelic expression of the human H19 gene. Nat. Genet. 4:40-44.
-
(1992)
Nat. Genet.
, vol.4
, pp. 40-44
-
-
Zhang, Y.1
Tycko, B.2
-
23
-
-
0027442239
-
Tumour-suppressor activity of H19 RNA
-
Hao, Y., T. Crenshaw, T. Moulton, E. Newcomb, and B. Tycko. 1993. Tumour-suppressor activity of H19 RNA. Nature. 365:764-767.
-
(1993)
Nature
, vol.365
, pp. 764-767
-
-
Hao, Y.1
Crenshaw, T.2
Moulton, T.3
Newcomb, E.4
Tycko, B.5
-
24
-
-
0028988159
-
p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene
-
Matsuoka, S., M. Edwards, C. Bai, S. Parker, P. Zhang, A. Baldini, J. Harper, and S. Elledge. 1995. p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes Dev. 9:650-662.
-
(1995)
Genes Dev.
, vol.9
, pp. 650-662
-
-
Matsuoka, S.1
Edwards, M.2
Bai, C.3
Parker, S.4
Zhang, P.5
Baldini, A.6
Harper, J.7
Elledge, S.8
-
25
-
-
0030008636
-
Imprinted genes and regulation of gene expression by epigenetic inheritance
-
John, R.M., and M.A. Surani 1996. Imprinted genes and regulation of gene expression by epigenetic inheritance. Curr. Opin. Cell Biol. 8:348-353.
-
(1996)
Curr. Opin. Cell Biol.
, vol.8
, pp. 348-353
-
-
John, R.M.1
Surani, M.A.2
-
26
-
-
0028356544
-
Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour
-
Steenman, M., S. Rainier, C. Dobry, P. Grundy, I. Horon, and A. Feinberg. 1994. Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour. Nat. Genet. 7:433-439.
-
(1994)
Nat. Genet.
, vol.7
, pp. 433-439
-
-
Steenman, M.1
Rainier, S.2
Dobry, C.3
Grundy, P.4
Horon, I.5
Feinberg, A.6
-
27
-
-
0026872675
-
Beckwith-Wiedemann syndrome, tumorigenesis and imprinting
-
Junien, C. 1992. Beckwith-Wiedemann syndrome, tumorigenesis and imprinting. Curr. Opin. Genet. Dev. 2:431-438.
-
(1992)
Curr. Opin. Genet. Dev.
, vol.2
, pp. 431-438
-
-
Junien, C.1
-
28
-
-
0029024314
-
Cloning of the beta cell high-affinity sulfonylurea receptor: A regulator of insulin secretion
-
Aguilar-Bryan, L., C. Nichols, S. Wechsler, J. Clement, A. Boyd, G. Gonzalez, H. Herrera Sosa, K. Nguy, J. Bryan, and D. Nelson. 1995. Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Science. 268:423-426.
-
(1995)
Science
, vol.268
, pp. 423-426
-
-
Aguilar-Bryan, L.1
Nichols, C.2
Wechsler, S.3
Clement, J.4
Boyd, A.5
Gonzalez, G.6
Herrera Sosa, H.7
Nguy, K.8
Bryan, J.9
Nelson, D.10
-
29
-
-
0028972501
-
Reconstitution of IKATP: An inward rectifier subunit plus the sulfonylurea receptor
-
Inagaki, N., T. Gonoi, J.P. Clement, N. Namba, J. Inazawa, G. Gonzalez, L. Aguilar-Bryan, S. Seino, and J. Bryan. 1995. Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. Science. 270:1166-1170.
-
(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
-
30
-
-
0028801579
-
Homozygosity mapping, to chromosome 11 p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas, P.M., G.J. Cote, D.M. Hallman, and P.M. Mathew, 1995. Homozygosity mapping, to chromosome 11 p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. Am. J. Hum. Genet. 56:416-421.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 416-421
-
-
Thomas, P.M.1
Cote, G.J.2
Hallman, D.M.3
Mathew, P.M.4
-
31
-
-
0031802399
-
Genetic heterogeneity in familial hyperinsulinism
-
Nestorowicz, A., B. Glaser, B.A. Wilson, S.L. Shyng, C.G. Nichols, C.A. Stanley, P.S. Thornton, and M.A. Permutt. 1998. Genetic heterogeneity in familial hyperinsulinism. Hum. Mol. Genet. 7:1119-1128.
-
(1998)
Hum. Mol. 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
Thornton, P.S.7
Permutt, M.A.8
-
32
-
-
0031966603
-
Pancreatic B-cell proliferation in persistent hyper-insulinemic hypoglycemia of infancy: An immunohistochemical study of 18 cases
-
Sempoux, C., Y. Guiot, M.-C. Nollevaux, J.-M. Saudubray, C. NihoulFékété, and J. Rahier. 1998. Pancreatic B-cell proliferation in persistent hyper-insulinemic hypoglycemia of infancy: an immunohistochemical study of 18 cases. Mod. Pathol 11:444-449.
-
(1998)
Mod. Pathol
, vol.11
, pp. 444-449
-
-
Sempoux, C.1
Guiot, Y.2
Nollevaux, M.-C.3
Saudubray, J.-M.4
Nihoulfékété, C.5
Rahier, J.6
-
33
-
-
8044261435
-
Correlations of alletic imbalance of chromosome 14 with tumor progression and prognostic parameters in renal cell carcinoma
-
Béroud, C., J.-C. Fournet, D. Froger, C. Jeanpierre, D. Droz, Y. Chretien, R. Bouvier, J. Marechal, J. Weissenbach, and C. Junien. 1996. Correlations of alletic imbalance of chromosome 14 with tumor progression and prognostic parameters in renal cell carcinoma. Genes Chrom. Cancer. 17:215-224.
-
(1996)
Genes Chrom. Cancer
, vol.17
, pp. 215-224
-
-
Béroud, C.1
Fournet, J.-C.2
Froger, D.3
Jeanpierre, C.4
Droz, D.5
Chretien, Y.6
Bouvier, R.7
Marechal, J.8
Weissenbach, J.9
Junien, C.10
-
34
-
-
0026446099
-
A second-generation linkage map of the human genome
-
Weissenbach, J., G. Gyapay, C. Dib, A. Vignal, J. Morissette, P. Millasseau, G. Vaysseix, and M. Lathrop. 1992. A second-generation linkage map of the human genome. Nature. 359:794-799.
-
(1992)
Nature
, vol.359
, pp. 794-799
-
-
Weissenbach, J.1
Gyapay, G.2
Dib, C.3
Vignal, A.4
Morissette, J.5
Millasseau, P.6
Vaysseix, G.7
Lathrop, M.8
-
35
-
-
0028907719
-
Spectrum of germline mutations in the RB1 gene: A study of 232 patients with hereditary and non-hereditary retinoblastoma
-
Blanquet, V., C. Turleau, M.-S. Gross-Morand, C. Sénamaud-Beaufort, F. Doz, and C. Besmond. 1995. Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non-hereditary retinoblastoma. Hum. Mol. Genet. 4:383-388.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 383-388
-
-
Blanquet, V.1
Turleau, C.2
Gross-Morand, M.-S.3
Sénamaud-Beaufort, C.4
Doz, F.5
Besmond, C.6
-
36
-
-
0028236583
-
Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene
-
Glaser, B., K. Chiu, R. Anker, A. Nestorowicz, H. Landau, H. Ben Bassat, I.Z. Shloma, N. Kaiser, P. Thornton, and C. Stanley. 1994. Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. Nat. Genet. 7:185-188.
-
(1994)
Nat. Genet.
, vol.7
, pp. 185-188
-
-
Glaser, B.1
Chiu, K.2
Anker, R.3
Nestorowicz, A.4
Landau, H.5
Ben Bassat, H.6
Shloma, I.Z.7
Kaiser, N.8
Thornton, P.9
Stanley, C.10
-
37
-
-
0029036747
-
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews
-
Glaser, B., K. Chiu, L. Liu, R. Anker, A. Nestorowicz, N. Cox, H. Landau, N. Kaiser, P. Thornton, C. Stanley, et al. 1995. Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews. Hum. Mol Genet. 4: 879-886.
-
(1995)
Hum. Mol Genet.
, vol.4
, pp. 879-886
-
-
Glaser, B.1
Chiu, K.2
Liu, L.3
Anker, R.4
Nestorowicz, A.5
Cox, N.6
Landau, H.7
Kaiser, N.8
Thornton, P.9
Stanley, C.10
-
38
-
-
0028801579
-
Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas, P.M., G.J. Cote, D.M. Hallman, and P.M. Mathew. 1995. Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. Am. J. Hum. Genet. 56:416-421.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 416-421
-
-
Thomas, P.M.1
Cote, G.J.2
Hallman, D.M.3
Mathew, P.M.4
-
39
-
-
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. Nat. Med. 2:1344-1347.
-
(1996)
Nat. Med.
, vol.2
, pp. 1344-1347
-
-
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
-
40
-
-
0030856668
-
Imprinting in clusters: Lessons from Beck-with-Wiedemann syndrome
-
Reik, W., and E. Maher. 1997. Imprinting in clusters: lessons from Beck-with-Wiedemann syndrome. Trends Genet. 13:330-337.
-
(1997)
Trends Genet.
, vol.13
, pp. 330-337
-
-
Reik, W.1
Maher, E.2
-
41
-
-
0030780795
-
Disomy and disease resolved?
-
Hastie, N. 1997. Disomy and disease resolved? Nature. 389:785.
-
(1997)
Nature
, vol.389
, pp. 785
-
-
Hastie, N.1
-
42
-
-
0029162269
-
Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
-
Ledbetter, D.H., and E. Engel. 1995. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum. Mol. Genet. 4:1754-1764.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1754-1764
-
-
Ledbetter, D.H.1
Engel, E.2
-
43
-
-
0017617191
-
Neonatal and infantile hypoglycemia due to insulin excess: New aspects of diagnosis and surgical management
-
Thomas, C.G., L. Underwood, C. Carney, J.L. Dolcourt, and J.J. Whitt. 1977. Neonatal and infantile hypoglycemia due to insulin excess: new aspects of diagnosis and surgical management. Ann. Surg. 185:505-516.
-
(1977)
Ann. Surg.
, vol.185
, pp. 505-516
-
-
Thomas, C.G.1
Underwood, L.2
Carney, C.3
Dolcourt, J.L.4
Whitt, J.J.5
-
44
-
-
0031035050
-
Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis
-
Brasier, J., and E. Henske. 1997. Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. J. Clin. Invest. 99:194-199.
-
(1997)
J. Clin. Invest.
, vol.99
, pp. 194-199
-
-
Brasier, J.1
Henske, E.2
-
45
-
-
0002526303
-
Hyperinsulinismes de I'enfant: À propos d'une série de 56 cas (1984-1994)
-
Flammarion Médecine-Sciences, Paris
-
Poggi-Travert, F., J. Rahier, F. Brunelle, C. Fékété, and J.-M. Saudubray. 1994. Hyperinsulinismes de I'enfant: à propos d'une série de 56 cas (1984-1994). In Journées Parisiennes de Pédiatrie 1994. Flammarion Médecine-Sciences, Paris. 29-42.
-
(1994)
Journées Parisiennes de Pédiatrie 1994
, pp. 29-42
-
-
Poggi-Travert, F.1
Rahier, J.2
Brunelle, F.3
Fékété, C.4
Saudubray, J.-M.5
-
46
-
-
0031799545
-
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy
-
Shyng, S.L., T. Ferrigni, J.B. Shepard, A. Nestorowicz, B. Glaser, M.A. Permutt, and C.G. Nichols. 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
Ferrigni, T.2
Shepard, J.B.3
Nestorowicz, A.4
Glaser, B.5
Permutt, M.A.6
Nichols, C.G.7
-
47
-
-
0024445345
-
Localization of focal lesion permitting partial pancreatectomy in infants
-
Lyonnet, S., J.-P. Bonnefont, J.-M. Saudubray, C. Nihoul-Fékété, and F. Brunelle. 1989. Localization of focal lesion permitting partial pancreatectomy in infants. Lancet. II:671.
-
(1989)
Lancet
, vol.2
, pp. 671
-
-
Lyonnet, S.1
Bonnefont, J.-P.2
Saudubray, J.-M.3
Nihoul-Fékété, C.4
Brunelle, F.5
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