Genetic Factors of Diabetes

Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment

(2016) Shazhan Amed et al.   Canadian Journal of Diabetes

GCKgene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey

(2016) Belma Haliloglu et al.   CLINICAL ENDOCRINOLOGY

Genetics of human Bardet-Biedl syndrome, an updates

(2016) S.A. Khan et al.   CLINICAL GENETICS

Wolfram Syndrome: Diagnosis, Management, and Treatment

(2016) Fumihiko Urano   Current Diabetes Reports

Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes

(2016) Maggie Shepherd et al.   DIABETES CARE

Undiagnosed MODY: Time for Action

(2015) Jeffrey W. Kleinberger et al.   Current Diabetes Reports

Maturity onset diabetes of the young (MODY)—History, first case reports and recent advances

(2015) Khalid Siddiqui et al.   GENE

What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity?

(2015) Julien Philippe et al.   PLoS One

Ocena częstości występowania zespołu Wolframa w populacji dzieci z cukrzycą

(2014) Agnieszka Zmysłowska et al.   Endokrynologia Polska

Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

(2014) G. Alkorta-Aranburu et al.   MOLECULAR GENETICS AND METABOLISM

Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes

(2014) Rachelle G. Gandica et al.   PEDIATRIC DIABETES

The diagnosis and management of monogenic diabetes in children and adolescents

(2014) Oscar Rubio-Cabezas et al.   PEDIATRIC DIABETES

Many faces of monogenic diabetes

(2014) Valerie M Schwitzgebel   Journal of Diabetes Investigation

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

(2013) Amy Farmer et al.   BMC Pediatrics

Switching to Sulphonylureas in Children With iDEND Syndrome Caused by KCNJ11 Mutations Results in Improved Cerebellar Perfusion

(2013) W. Fendler et al.   DIABETES CARE

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

(2013) S. Ellard et al.   DIABETOLOGIA

Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

(2013) Kevin Colclough et al.   HUMAN MUTATION

Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign

(2012) W. Fendler et al.   DIABETOLOGIA

Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene

(2012) Amélie Bonnefond et al.   PLoS One

Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population

(2011) M Borowiec et al.   CLINICAL GENETICS

Heterozygous ABCC8 mutations are a cause of MODY

(2011) P. Bowman et al.   DIABETOLOGIA

Genetics and pathophysiology of neonatal diabetes mellitus

(2011) Rochelle N Naylor et al.   Journal of Diabetes Investigation

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

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene

(2010) Julie Støy et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

Monogenic forms of diabetes mellitus: an update

(2010) Martine Vaxillaire et al.   Endocrinologia y Nutricion

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

(2009) Kara K. Osbak et al.   HUMAN MUTATION