DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
|
27908292 |
2016 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.
|
25639667 |
2016 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism.
|
24434300 |
2014 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
|
23345197 |
2013 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
|
23275527 |
2013 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.
|
22311976 |
2012 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
|
21422196 |
2011 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011.
|
21812132 |
2011 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation.
|
20589481 |
2010 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
|
20685672 |
2010 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
|
20049716 |
2009 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.
|
18250167 |
2008 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
|
17446535 |
2007 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
|
15718250 |
2005 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.
|
15784703 |
2005 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
|
15562009 |
2005 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.
|
12524280 |
2003 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
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.
|
11395395 |
2001 |
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|