(Q28301770)

12 December 2020

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

1 reference

12 December 2020

Alpha-endosulfine, a positional and functional candidate gene for type 2 diabetes: molecular screening, association studies, and role in reduced insulin secretion.

1 reference

12 December 2020

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

1 reference

12 December 2020

Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role

1 reference

12 December 2020

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

1 reference

12 December 2020

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

1 reference

12 December 2020

The transcribed endosulfine alpha gene is located within a type 2 diabetes-linked region on 1q: sequence and expression analysis in Pima Indians

1 reference

12 December 2020

ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures

1 reference

12 December 2020

Compound heterozygosity for the common sulfonylurea receptor mutations can cause mild diazoxide-sensitive hyperinsulinism

1 reference

12 December 2020

Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism

1 reference

12 December 2020

p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy.

1 reference

12 December 2020

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor

1 reference

12 December 2020

Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy

1 reference

12 December 2020

Genetics of neonatal hyperinsulinism.

1 reference

12 December 2020

Familial hyperinsulinism caused by an activating glucokinase mutation

1 reference

12 December 2020

Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations

1 reference

12 December 2020

Severe transient hyperinsulinaemic hypoglycaemia: two neonates without predisposing factors and a review of the literature.

1 reference

12 December 2020

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases

1 reference

12 December 2020

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

1 reference

12 December 2020

Potassium Channels, Sulphonylurea Receptors and Control of Insulin Release

1 reference

12 December 2020

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia

1 reference

12 December 2020

Family with autosomal dominant hyperinsulinism associated with A456V mutation in the glucokinase gene

1 reference

12 December 2020

Hyperinsulinism in infants and children

1 reference

12 December 2020

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

1 reference

12 December 2020

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation

1 reference

12 December 2020

Genetic heterogeneity in familial hyperinsulinism.

1 reference

12 December 2020