Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism

Diagnosis and management of hyperinsulinaemic hypoglycaemia

(2018) Sonya Galcheva et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

(2018) Christopher E. Gibson et al.   Hormone Research in Paediatrics

Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia

(2018) I Banerjee et al.   DIABETIC MEDICINE

Screening of HNF1A and HNF4A mutation and clinical phenotype analysis in a large cohort of Chinese patients with maturity-onset diabetes of the young

(2018) Xiaojing Wang et al.   ACTA DIABETOLOGICA

Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders

(2016) Charles A. Stanley   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

High Incidence of HeterozygousABCC8andHNF1AMutations in Czech Patients With Congenital Hyperinsulinism

(2015) Klara Rozenkova et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Re-Evaluating “Transitional Neonatal Hypoglycemia”: Mechanism and Implications for Management

(2015) Charles A. Stanley et al.   JOURNAL OF PEDIATRICS

Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children

(2015) Paul S. Thornton et al.   JOURNAL OF PEDIATRICS

Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases

(2015) Chunxiu Gong et al.   PEDIATRIC DIABETES

Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients

(2015) Zi-chuan Fan et al.   Molecular Genetics & Genomic Medicine

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations

(2014) Ved Bhushan Arya et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Clinical and Genetic Evaluation of Patients with KATPChannel Mutations from the German Registry for Congenital Hyperinsulinism

(2014) Klaus Mohnike et al.   Hormone Research in Paediatrics

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

(2014) Peter M. van Hasselt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

(2013) Ritika R Kapoor et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort

(2013) Flavio Faletra et al.   GENE

Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism

(2012) K. E. Snider et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism

(2011) I Banerjee et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia

(2010) SE Flanagan et al.   CLINICAL GENETICS

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

(2010) C. Bellanne-Chantelot et al.   JOURNAL OF MEDICAL GENETICS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Update of mutations in the genes encoding the pancreatic beta-cell KATPchannel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

(2008) Sarah E. Flanagan et al.   HUMAN MUTATION