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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders

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Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning

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Homozygous Mutations inNEUROD1Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities

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Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM

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Permanent diabetes mellitus in the first year of life

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SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

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KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

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

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Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families

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Persistent Hyperinsulinemic Hypoglycemia and Maturity-Onset Diabetes of the Young Due to Heterozygous HNF4A Mutations

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Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3

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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

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

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Glucose-Lowering Effects and Low Risk of Hypoglycemia in Patients With Maturity-Onset Diabetes of the Young When Treated With a GLP-1 Receptor Agonist: A Double-Blind, Randomized, Crossover Trial

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Coeliac disease in children and adolescents with IDDM: clinical characteristics and response to gluten-free diet

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Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

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SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion

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Contrasting Diabetes Phenotypes Associated With Hepatocyte Nuclear Factor-1α and -1β Mutations

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

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

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Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry

Johansson, B. B., Irgens, H. U., Molnes, J., Sztromwasser, P., Aukrust, I., Júlíusson, P. B., Sövik, O., Levy, S., Skrivarhaug, T., Joner, G., et al. (2016) · Diabetologia · doi:10.1007/s00125-016-4167-1 · Cited by 131 · see citing works

Heterozygous Missense Mutations in the Insulin Gene Are Linked to Permanent Diabetes Appearing in the Neonatal Period or in Early Infancy

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Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene

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Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes

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β-Cell Dysfunction, Insulin Sensitivity, and Glycosuria Precede Diabetes in Hepatocyte Nuclear Factor-1α Mutation Carriers

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HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months

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Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry

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Lack of pancreatic body and tail in HNF1B mutation carriers

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Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

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In search of triallelism in Bardet–Biedl syndrome

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De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed

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Successful Use of the New Immune-suppressor Sirolimus in IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome)

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Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11

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Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis, and Therapeutic Options

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Glucokinase, glucose homeostasis, and diabetes mellitus

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Exome Sequencing and Genetic Testing for MODY

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

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Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:

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Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012

Delvecchio, M., Mozzillo, E., Salzano, G., Iafusco, D., Frontino, G., Patera, P. I., Rabbone, I., Cherubini, V., Grasso, V., Tinto, N., et al. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-2490 · Cited by 109 · see citing works

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

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Pancreatic Lipomatosis Is a Structural Marker in Nondiabetic Children With Mutations in Carboxyl-Ester Lipase

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

Koster, J. C., Cadario, F., Peruzzi, C., Colombo, C., Nichols, C. G., & Barbetti, F. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1826 · Cited by 105 · see citing works

Use of Sirolimus in IPEX and IPEX-Like Children

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Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial

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Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Franco, E. D., Flanagan, S. E., Yagi, T., Abreu, D., Mahadevan, J., Johnson, M. B., Jones, G., Acosta, F. S., Mulaudzi, M. C., Lek, N., et al. (2017) · Diabetes · doi:10.2337/db16-1296 · Cited by 103 · see citing works

Muscle dysfunction caused by a KATP channel mutation producing neonatal diabetes is neuronal in origin

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Mutations in the hepatocyte nuclear factor-1α gene in Caucasian families originally classified as having Type I diabetes

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Molecular basis of the obesity associated with Bardet–Biedl syndrome

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

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The Clinical Variability of Maternally Inherited Diabetes and Deafness Is Associated with the Degree of Heteroplasmy in Blood Leukocytes

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Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young

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Comparison of Efficacy and Safety of Leptin Replacement Therapy in Moderately and Severely Hypoleptinemic Patients with Familial Partial Lipodystrophy of the Dunnigan Variety

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Pathophysiology of diabetes: An overview

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Phenotypic and genetic classification of diabetes

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100 YEARS OF INSULIN: A brief history of diabetes genetics: insights for pancreatic beta-cell development and function

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Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes

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Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects

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