| Item Type | Name |
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Concept
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Infant, Newborn
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Concept
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Infant, Premature
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Concept
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Infant
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Concept
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Infant, Small for Gestational Age
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Concept
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Infant, Newborn, Diseases
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Concept
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Infant, Premature, Diseases
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Academic Article
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Insulin gene mutations as a cause of permanent neonatal diabetes.
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Academic Article
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Diagnosis and treatment of neonatal diabetes: a United States experience.
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Academic Article
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Update in neonatal diabetes.
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Academic Article
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Neonatal diabetes mellitus: a model for personalized medicine.
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Academic Article
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The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes.
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Academic Article
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Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.
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Academic Article
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Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes.
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Academic Article
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Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect.
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Academic Article
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Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas.
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Academic Article
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Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.
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Academic Article
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Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
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Academic Article
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Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons.
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Academic Article
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Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
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Academic Article
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Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
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Academic Article
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Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.
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Academic Article
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Hyperinsulinism in a neonate.
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Academic Article
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Successful transition from insulin to sulfonylurea therapy in a patient with monogenic neonatal diabetes owing to a KCNJ11 F333L [corrected] mutation.
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Academic Article
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Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes.
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Academic Article
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Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.
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Academic Article
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Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.
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Academic Article
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Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes.
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Academic Article
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The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)?.
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Academic Article
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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
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Academic Article
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FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
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Academic Article
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ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.
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Academic Article
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Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
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Academic Article
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Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry.
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Academic Article
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Congenital forms of diabetes: the beta-cell and beyond.
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Academic Article
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Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.
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Academic Article
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Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
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Academic Article
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Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
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Academic Article
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Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.
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Academic Article
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Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
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Academic Article
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Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes.
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Academic Article
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Growth and development in monogenic forms of neonatal diabetes.
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Concept
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Infant, Extremely Premature
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Academic Article
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A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.
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