Congenital hyperinsulinism disorders: Genetic and clinical characteristics

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

(2018) Kai Lee Yap et al.   GENETICS IN MEDICINE

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

Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2

(2018) Mary Ellen Vajravelu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations

(2018) Joanna Yuet-ling Tung et al.   PEDIATRIC DIABETES

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia

(2018) Thomas W. Laver et al.   CLINICAL ENDOCRINOLOGY

Kabuki syndrome: international consensus diagnostic criteria

(2018) Margaret P Adam et al.   JOURNAL OF MEDICAL GENETICS

Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children

(2018) N. Scott Adzick et al.   JOURNAL OF PEDIATRIC SURGERY

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase

(2017) Sarah M Leiter et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities

(2017) Dinesh Giri et al.   HUMAN MOLECULAR GENETICS

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia

(2017) Thomas W Laver et al.   HUMAN MUTATION

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

(2017) SE Flanagan et al.   PEDIATRIC DIABETES

Clinical and genetic characterization of congenital hyperinsulinism in Spain

(2016) R Martínez et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype

(2016) Nicola Improda et al.   Hormone Research in Paediatrics

Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2 (UCP2)

(2016) Christine T. Ferrara et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

(2016) Sunnie Yan-Wai Wong et al.   JOURNAL OF PEDIATRICS

Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children

(2016) Christine Ferrara et al.   JOURNAL OF PEDIATRICS

Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello s

(2015) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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 Risk of Diabetes and Neurobehavioral Deficits in Individuals With Surgically Treated Hyperinsulinism

(2015) Katherine Lord et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith–Wiedemann syndrome

(2015) Jennifer M Kalish et al.   JOURNAL OF MEDICAL GENETICS

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

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course

(2015) Emine Çamtosun et al.   Journal of Clinical Research in Pediatric Endocrinology

Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pharmacological glucokinase activation

(2014) Benjamin G. Challis et al.   CLINICAL ENDOCRINOLOGY

Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2

(2013) MARK R. MORRIS et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Determination of insulin for the diagnosis of hyperinsulinemic hypoglycemia

(2013) Diva D. De León et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

The evolving course ofHNF4Ahyperinsulinaemic hypoglycaemia-a case series

(2013) S. M. McGlacken-Byrne et al.   DIABETIC MEDICINE

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

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

Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q

(2013) Sara E. Pinney et al.   Hormone Research in Paediatrics

Clinical Presentation and Management of Children With Diffuse and Focal Hyperinsulinism: A Review of 223 Cases

(2013) Katherine Lord et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

ActivatingAKT2Mutation: Hypoinsulinemic Hypoketotic Hypoglycemia

(2013) Ved Bhushan Arya et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

TheHNF4AR76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

(2013) Alexander J Hamilton et al.   JOURNAL OF MEDICAL GENETICS

Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome

(2012) Terumichi Matsuo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital Hyperinsulinism Caused by Hexokinase I Expression or Glucokinase-Activating Mutation in a Subset of  -Cells

(2012) J.-C. Henquin et al.   DIABETES

Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome: Hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes

(2012) A. N. Al Mutair et al.   DIABETES CARE

Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes:HNF1AandHNF4A

(2012) Diana E. Stanescu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel Insights Into Fatty Acid Oxidation, Amino Acid Metabolism, and Insulin Secretion From Studying Patients With Loss of Function Mutations in 3-Hydroxyacyl-CoA Dehydrogenase

(2012) Amanda J. Heslegrave et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism

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

Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the  -Cell Sulfonylurea Receptor SUR1

(2011) C. M. MacMullen et al.   DIABETES

Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism

(2011) J. Beltrand et al.   DIABETES CARE

Genome-Wide Homozygosity Analysis RevealsHADHMutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees

(2011) Sarah E. Flanagan et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Treatment of Congenital Hyperinsulinism with Lanreotide Acetate (Somatuline Autogel)

(2011) Dalit Modan-Moses et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

An Activating Mutation of AKT2 and Human Hypoglycemia

(2011) K. Hussain et al.   SCIENCE

Systemic activation of glutamate dehydrogenase increases renal ammoniagenesis: implications for the hyperinsulinism/hyperammonemia syndrome

(2010) Jason R. Treberg et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Mechanism of Hyperinsulinism in Short-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Involves Activation of Glutamate Dehydrogenase

(2010) Changhong Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The hyperinsulinism/hyperammonemia syndrome

(2010) Andrew A. Palladino et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

Neurological aspects of hyperinsulinism-hyperammonaemia syndrome

(2009) Nadia Bahi-Buisson et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Neurological aspects in hyperinsulinism-hyperammonaemia syndrome

(2009) Andrea Kelly et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations

(2009) Ritika R Kapoor et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Exendin-(9–39) Corrects Fasting Hypoglycemia inSUR-1–/–Mice by Lowering cAMP in Pancreatic β-Cells and Inhibiting Insulin Secretion

(2008) Diva D. De León et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations

(2008) Sara E. Pinney et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion

(2008) M. Mar González-Barroso et al.   PLoS One

Hyperinsulinism in Infancy and Childhood: When an Insulin Level Is Not Always Enough

(2007) A. A. Palladino et al.   CLINICAL CHEMISTRY