|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.
|
25720052 |
2015 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
|
24814349 |
2015 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
|
23275527 |
2013 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
CLINVAR |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
|
20685672 |
2010 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
CLINVAR |
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
|
19475716 |
2009 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
|
17575084 |
2007 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
|
16357843 |
2006 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
|
16429405 |
2006 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
|
15562009 |
2005 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
|
15579781 |
2004 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.
|
12941782 |
2003 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.
|
12364426 |
2002 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.
|
11867634 |
2002 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.
|
11226335 |
2001 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
|
11018078 |
2000 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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.
|
10615958 |
2000 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical features of 52 neonates with hyperinsulinism.
|
10202168 |
1999 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
|
10334322 |
1999 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
|
9769320 |
1998 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic heterogeneity in familial hyperinsulinism.
|
9618169 |
1998 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
|
9648840 |
1998 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.
|
8751851 |
1996 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Adenosine diphosphate as an intracellular regulator of insulin secretion.
|
8650576 |
1996 |
|
Hyperinsulinemic hypoglycemia, familial, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
|
8923011 |
1996 |