-
1
-
-
0026053121
-
Familial and sporadic hyperinsulinism: Histopathologic findings and segregation analysis support a single autosomal recessive disorder
-
Thornton PS, Sumner AE, Ruchelli ED, Spielman RS, Baker, L, Stanley CA. Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. J Pediatr 1991;119:721-4.
-
(1991)
J Pediatr
, vol.119
, pp. 721-724
-
-
Thornton, P.S.1
Sumner, A.E.2
Ruchelli, E.D.3
Spielman, R.S.4
Baker, L.5
Stanley, C.A.6
-
2
-
-
0031942583
-
Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant
-
Thornton PS, Satin-Smith MS, Herold K, et al. Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. J Pediatr 1998;131:9-14.
-
(1998)
J Pediatr
, vol.131
, pp. 9-14
-
-
Thornton, P.S.1
Satin-Smith, M.S.2
Herold, K.3
-
3
-
-
0029021696
-
Mutations in the sulphonylurea receptor gene in familial hyperinsulinaemic hypoglycaemia of infancy
-
Thomas PM, Cote CJ, Wohllk N, et al. Mutations in the sulphonylurea receptor gene in familial hyperinsulinaemic hypoglycaemia of infancy. Science 1995;268:426-9 .
-
(1995)
Science
, vol.268
, pp. 426-429
-
-
Thomas, P.M.1
Cote, C.J.2
Wohllk, N.3
-
4
-
-
15644367096
-
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism
-
Nestorowich A, Inagaki N, Gonoi T, et al. A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 1997; 46:1743-8.
-
(1997)
Diabetes
, vol.46
, pp. 1743-1748
-
-
Nestorowich, A.1
Inagaki, N.2
Gonoi, T.3
-
5
-
-
0030880778
-
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinaemic hypoglycaemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy
-
de Lonlay P, Fournet JC, Rahier J, et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinaemic hypoglycaemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 1997;100:802-7.
-
(1997)
J Clin Invest
, vol.100
, pp. 802-807
-
-
De Lonlay, P.1
Fournet, J.C.2
Rahier, J.3
-
6
-
-
0025327660
-
Chromosome 11 allele loss in sporadic insulinoma
-
Patel P, O'Rahilly S, Buckle V, Nakamure Y, Turner RC, Wainscoat JS. Chromosome 11 allele loss in sporadic insulinoma. J Clin Pathol 1990;43:377-8.
-
(1990)
J Clin Pathol
, vol.43
, pp. 377-378
-
-
Patel, P.1
O'Rahilly, S.2
Buckle, V.3
Nakamure, Y.4
Turner, R.C.5
Wainscoat, J.S.6
-
7
-
-
0027999665
-
Mosiac uniparental disomy in Beckwith-Wiedemann syndrome
-
Slatter R, Elliott M, Carrera M, Schofield FM, Barton DE, Maher ER. Mosiac uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet 1994;31:749-53.
-
(1994)
J Med Genet
, vol.31
, pp. 749-753
-
-
Slatter, R.1
Elliott, M.2
Carrera, M.3
Schofield, F.M.4
Barton, D.E.5
Maher, E.R.6
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