Permanent diabetes during the first year of life: multiple gene screening in 54 patients

Further evidence that mutations in INScan be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

(2010) Trine W Boesgaard et al.   BMC Medical Genetics

Rfx6 directs islet formation and insulin production in mice and humans

(2010) Stuart B. Smith et al.   NATURE

Defective Secretion of Islet Hormones in Chromogranin-B Deficient Mice

(2010) Stefanie Obermüller et al.   PLoS One

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

(2010) Amélie Bonnefond et al.   PLoS One

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

(2010) I. Garin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SlC30A8 Is a Major Target of Humoral Autoimmunity in Type 1 Diabetes and a Predictive Marker in Prediabetes

(2009) Janet M. Wenzlau et al.   Annals of the New York Academy of Sciences

Detailed transcriptome atlas of the pancreatic beta cell

(2009) Burak Kutlu et al.   BMC Medical Genomics

A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency

(2009) M. Nicolino et al.   DIABETES

Mutations inIAPPandNEUROG3genes are not a common cause of permanent neonatal/infancy/childhood-onset diabetes

(2009) V. Nocerino et al.   DIABETIC MEDICINE

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births

(2009) A. S. Slingerland et al.   DIABETOLOGIA

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

(2009) Laura Bernardini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of Two KCNJ11 Neonatal Diabetes Mutations, V59G and V59A, and the Analogous KCNJ8 I60G Substitution

(2009) Marcus Winkler et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in the Insulin Gene Can Cause MODY and Autoantibody-Negative Type 1 Diabetes

(2008) A. Molven et al.   DIABETES

Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies

(2008) R. Bonfanti et al.   DIABETES CARE

Neonatal Diabetes Mellitus

(2008) Lydia Aguilar-Bryan et al.   ENDOCRINE REVIEWS

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

Diagnosis and treatment of neonatal diabetes: an United States experience†

(2008) Julie Støy et al.   PEDIATRIC DIABETES

Clinical implications of a molecular genetic classification of monogenic β-cell diabetes

(2008) Rinki Murphy et al.   Nature clinical practice. Endocrinology & metabolism

The G53D Mutation in Kir6.2 (KCNJ11) Is Associated with Neonatal Diabetes and Motor Dysfunction in Adulthood that Is Improved with Sulfonylurea Therapy

(2007) Joseph C. Koster et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM