×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.
27573238
2016
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
27188453
2016
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.
26180531
2015
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.
24616771
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia.
24145932
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
23345197
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
23275527
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism.
23067144
2013
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.
21716120
2011
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
20685672
2010
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex.
20427569
2010
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.
18988933
2008
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.
17466004
2007
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.
17378627
2007
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report.
16969006
2006
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
16429405
2006
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
16357843
2006
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism.
16186397
2005
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
15579781
2004
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
15562009
2005
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.
14764815
2004
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.
14715863
2004
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Genetic heterogeneity in familial hyperinsulinism.
9618169
1998
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
8923011
1996
×
Entrez Id:
6833
Gene Symbol:
ABCC8
ABCC8
0.500
CausalMutation
disease
CLINVAR
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.
7716548
1995