GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated

The clinical management of hyperglycemia in pregnancy complicated by maturity-onset diabetes of the young

(2015) Siobhan Bacon et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Standards of Medical Care in Diabetes--2015: Summary of Revisions

(2014)   DIABETES CARE

The 0.1% of the Population With Glucokinase Monogenic Diabetes Can Be Recognized by Clinical Characteristics in Pregnancy: The Atlantic Diabetes in Pregnancy Cohort

(2014) Ali J. Chakera et al.   DIABETES CARE

Prevalence of Vascular Complications Among Patients With Glucokinase Mutations and Prolonged, Mild Hyperglycemia

(2014) Anna M. Steele et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The Clinical Endocrinology Workforce: Current Status and Future Projections of Supply and Demand

(2014) Robert A. Vigersky et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Sulfonylurea Treatment Before Genetic Testing in Neonatal Diabetes: Pros and Cons

(2014) David Carmody et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Cost-Effectiveness of MODY Genetic Testing: Translating Genomic Advances Into Practical Health Applications

(2013) Rochelle N. Naylor et al.   DIABETES CARE

Highly Sensitive Diagnosis of 43 Monogenic Forms of Diabetes or Obesity Through One-Step PCR-Based Enrichment in Combination With Next-Generation Sequencing

(2013) A. Bonnefond et al.   DIABETES CARE

Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia

(2013) Amanda Stride et al.   DIABETOLOGIA

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

(2013) S. Ellard et al.   DIABETOLOGIA

Prevalence, Characteristics and Clinical Diagnosis of Maturity Onset Diabetes of the Young Due to Mutations in HNF1A, HNF4A, and Glucokinase: Results From the SEARCH for Diabetes in Youth

(2013) Catherine Pihoker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation

(2013) Maria Negahdar et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Use of HbA1c in the Identification of Patients with Hyperglycaemia Caused by a Glucokinase Mutation: Observational Case Control Studies

(2013) Anna M. Steele et al.   PLoS One

Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF)

(2013) Michele Pinelli et al.   PLoS One

Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis

(2012) N. L. Beer et al.   DIABETES CARE

The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes

(2012) B. M. Shields et al.   DIABETOLOGIA

Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses

(2012) Sandra Herman et al.   GENETICS AND MOLECULAR BIOLOGY

Who should have genetic testing for maturity-onset diabetes of the young?

(2011) Rochelle Naylor et al.   CLINICAL ENDOCRINOLOGY

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY

(2011) A. M. Steele et al.   DIABETOLOGIA

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

(2010) B. M. Shields et al.   DIABETOLOGIA

Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:: A multicenter Italian study of 172 families

(2009) R. Lorini et al.   DIABETES CARE

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

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia

(2008) A. L. Gloyn et al.   DIABETOLOGIA