Activating Mutations in the<i>ABCC8</i>Gene in Neonatal Diabetes Mellitus

Andrey P. Babenko, Michel Polak, Hélène Cavé, +7

New England Journal of Medicine

Childhood Craniopharyngioma: Hypothalamus-Sparing Surgery Decreases the Risk of Obesity

Églantine Elowe-Gruau, Jacques Beltrand, Raja Brauner, +13

The Journal of Clinical Endocrinology & Metabolism

Kir6.2 Mutations Are a Common Cause of Permanent Neonatal Diabetes in a Large Cohort of French Patients

Martine Vaxillaire, Céline Populaire, Kanetee Busiah, +6

Diabetes

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

Amélie Bonnefond, Emmanuelle Durand, Olivier Sand, +13

PLoS ONE

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study

Kanetee Busiah, Séverine Drunat, Laurence Vaivre‐Douret, +28

The Lancet Diabetes & Endocrinology

Developmental AnomalyNeuropsychological FunctioningNeuropsychologyDiabetesDevelopmental Defects +7

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

Jacques Beltrand, Caroline Elie, Kanetee Busiah, +16

Diabetes Care

RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells

Vikash Chandra, Olivier Albagli, Benoît Hastoy, +10

Cell Reports

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Florence Habarou, Yamina Hamel, Tobias B. Haack, +29

The American Journal of Human Genetics

Biallelic MutationsMitochondrial FunctionGenetic DisorderGeneticsInherited Metabolic Disease +5

New <i>ABCC8</i> Mutations in Relapsing Neonatal Diabetes and Clinical Features

Martine Vaxillaire, Aurélie Dechaume, Kanetee Busiah, +7

Diabetes

GeneticsGenetic EpidemiologyMolecular GeneticsDisease Gene IdentificationInsulin Signaling +16

Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Mellitus

Amélie Bonnefond, Gwen Lomberk, Navtej Buttar, +19

Journal of Biological Chemistry

Metabolic SyndromeSystems BiologySignal TransductionNeonatal Diabetes MellitusMedicine +13