All Stories

  1. Approach to the Patient - Mitochondrial Diabetes: Contemporary Cases and Precision Medicine Approach
  2. Creation and Evaluation of a Research Participant Portal for the University of Chicago Monogenic Diabetes Registry
  3. Sleep patterns in adults and children with less common forms of diabetes
  4. Children with Pancreatic Hypoplasia Experience Poor Weight Gain and Labile Diabetes but Low Incidence of DKA
  5. 2130-LB: Novel Insulin Gene Variants in Antibody-Negative Adult-Onset Diabetes
  6. Smaller Pancreas Volume in Insulin-Dependent Monogenic Diabetes
  7. Advancing Monogenic Diabetes Research and Clinical Care by Creating a Data Commons: The Precision Diabetes Consortium (PREDICT)
  8. Improved Neurodevelopment Following In Utero Sulfonylurea Exposure in a Patient With KCNJ11 Permanent Neonatal Diabetes: Future Implications for Targeted Treatment During Pregnancy
  9. RFX6 regulates human intestinal patterning and function upstream of PDX1
  10. Precision treatment of beta-cell monogenic diabetes: a systematic review
  11. RFX6 regulates human intestinal patterning and function upstream of PDX1
  12. Islet autoantibodies as precision diagnostic tools to characterize heterogeneity in type 1 diabetes: a systematic review
  13. A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life
  14. Clinical Characteristics and Remission Monitoring of 6q24‐Related Transient Neonatal Diabetes
  15. Predicting Progression to Stage 3 Type 1 Diabetes with MRI and OGTT
  16. Precision gestational diabetes treatment: a systematic review and meta-analyses
  17. Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
  18. 1141-P: Characterizing Clinical Characteristics of 6q24-Related Transient Neonatal Diabetes
  19. Systematic Review of Monogenic Diabetes Prognostics
  20. Systematic Review of Treatment of Beta-Cell Monogenic Diabetes
  21. The Rare and Atypical Diabetes Network (RADIANT) Study: Design and Early Results
  22. Insulin Deficiency From Insulin Gene Mutation Leads to Smaller Pancreas
  23. Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation
  24. ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents
  25. 206-OR: Insulin Gene Mutation in Family with Monogenic Diabetes Leads to Smaller Pancreas
  26. 35-OR: Multicenter MRI Assessment of the Pancreas in Type 1 Diabetes (MAP-T1D) Predicts Progression of Type 1 Diabetes
  27. Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO
  28. Growth and development in monogenic forms of neonatal diabetes
  29. Insight on Diagnosis and Treatment From Over a Decade of Research Through the University of Chicago Monogenic Diabetes Registry
  30. Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes
  31. Development of a standardized MRI protocol for pancreas assessment in humans
  32. The Do-It-Yourself Artificial Pancreas
  33. Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes
  34. Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors’ Expert Forum
  35. Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes
  36. Using a Do-It-Yourself Artificial Pancreas: Perspectives from Patients and Diabetes Providers
  37. A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line
  38. 127-LB: Characteristics of INS-MODY Participants in a National Diabetes Registry
  39. 1283-P: Multicenter Assessment of the Pancreas in Type 1 Diabetes (MAP-T1D)
  40. 1312-P: Pancreas Volume in Individuals with MODY 1, 2, 3, and 5
  41. 1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel
  42. 161-LB: Neurodevelopmental Outcomes of Infancy-Onset Diabetes
  43. 166-LB: Participants with KATP-Related Neonatal Diabetes (KATP-NDM) Experience More Sleep Disruption than Sibling Controls
  44. 178-LB: Insights from the University of Chicago Monogenic Diabetes Registry on Diagnosis and Management of Monogenic Diabetes
  45. 2264-PUB: Progress in Curating Gene–Disease Relationships by the ClinGen Monogenic Diabetes Expert Panel
  46. 50-LB: Behavior and Learning Challenges in ABCC8-Related Neonatal Diabetes
  47. 61-LB: Use of Functional Near-Infrared Spectroscopy (fNIRS) to Assess Cognitive Effort in KATP-Related Neonatal Diabetes (KATP-NDM)
  48. Update of variants identified in the pancreatic β‐cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes
  49. Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations
  50. 184-LB: Pancreatic Hypoplasia Patients Experience Poor Weight Gain and Labile Diabetes without Diabetic Ketoacidosis (DKA)
  51. 124-LB: Patients’ Experiences with a Do-It-Yourself Artificial Pancreas and Perspectives of the Endocrinologist’s Role in Supporting Their Use
  52. Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison to GCK-MODY (MODY2)
  53. GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants
  54. Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated
  55. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals
  56. Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals”
  57. Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry
  58. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents
  59. Monogenic diabetes: the impact of making the right diagnosis
  60. Precision medicine in KCNJ11 permanent neonatal diabetes
  61. Clinical Utility of the T1D Genetic Risk Score—Examples from the U.S. Monogenic Diabetes Registry
  62. Identifying Patients with GDM at Risk for GCK-MODY
  63. Insulin Treatment and Clinical Outcomes in 67 Participants with Infancy-Onset Diabetes
  64. Management of GCK-MODY in Pregnancy—Does Clinical Practice Follow Current Recommendations?
  65. Reprogramming human T cell function and specificity with non-viral genome targeting
  66. White Matter Differences and Neurodevelopment Outcomes in Patients with KATP Channel-Related Diabetes
  67. Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features
  68. Congenital forms of diabetes: the beta-cell and beyond
  69. Neonatal Diabetes Mellitus
  70. Hypoglycemia in sulfonylurea-treated KCNJ11 -neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures
  71. FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
  72. Early Intensive Insulin Use May Preserve Beta-Cell Function in Neonatal Diabetes Due to Mutations in the Proinsulin Gene
  73. Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA
  74. Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis
  75. The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)
  76. Case Report: Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-related Diabetes
  77. Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3
  78. ADHD, learning difficulties and sleep disturbances associated with KCNJ11 -related neonatal diabetes
  79. Patients with KCNJ11‐related diabetes frequently have neuropsychological impairments compared with sibling controls
  80. GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated
  81. Long Delay in Accurate Diagnosis of Hnf1A-Mody in the us Monogenic Diabetes Registry
  82. Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation
  83. An online monogenic diabetes discussion group: supporting families and fueling new research
  84. Continued lessons from theINSgene: an intronic mutation causing diabetes through a novel mechanism
  85. Role of Noninsulin Therapies Alone or in Combination in Chromosome 6q24-Related Transient Neonatal Diabetes: Sulfonylurea Improves but Does Not Always Normalize Insulin Secretion
  86. Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes
  87. Commentary: Launch of a Quality Improvement Network for Evidence-Based Management of Uncommon Pediatric Endocrine Disorders: Turner Syndrome as a Prototype
  88. Response Letter to the Editor
  89. Sulfonylurea Treatment Before Genetic Testing in Neonatal Diabetes: Pros and Cons
  90. Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach
  91. Hyperinsulinism in a Neonate
  92. Cost-Effectiveness of MODY Genetic Testing: Translating Genomic Advances Into Practical Health Applications
  93. Successful Transition From Insulin to Sulfonylurea Therapy in a Patient With Monogenic Neonatal Diabetes Owing to a KCNJ11 F333L Mutation
  94. Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations inIER3IP1: insights into the natural history of a rare disorder
  95. Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation inRFX6
  96. Gain-of-Function Mutations in the KATP Channel (KCNJ11) Impair Coordinated Hand-Eye Tracking
  97. Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype
  98. Visuomotor Performance in KCNJ11-Related Neonatal Diabetes Is Impaired in Children With DEND-Associated Mutations and May Be Improved by Early Treatment With Sulfonylureas
  99. Genomic Sequencing in Newborn Screening Programs
  100. Genomic Sequencing in Newborn Screening Programs
  101. Neonatal Diabetes: An Expanding List of Genes Allows for Improved Diagnosis and Treatment
  102. Onset features and subsequent clinical evolution of childhood diabetes over several years
  103. HLA-DQ haplotypes differ by ethnicity in patients with childhood-onset diabetes
  104. Genetics and pathophysiology of neonatal diabetes mellitus
  105. The Cost-Effectiveness of Personalized Genetic Medicine
  106. Neonatal diabetes mellitus: A model for personalized medicine
  107. Update in neonatal diabetes
  108. Genetic Testing in Diabetes Mellitus
  109. Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide
  110. Diagnosis and treatment of neonatal diabetes: an United States experience†
  111. Insulin gene mutations as a cause of permanent neonatal diabetes
  112. Educating Future Leaders of Medical Research: Analysis of Student Opinions and Goals from the MD???PhD SAGE (Students??? Attitudes, Goals, and Education) Survey
  113. NOD B-cells Are Insufficient to Incite T-Cell-Mediated Anti-islet Autoimmunity
  114. Educational Views and Attitudes, and Career Goals of MD???PhD Students at the University of Pennsylvania School of Medicine
  115. MD-PhD Students in a Major Training Program Show Strong Interest in Becoming Surgeon-Scientists
  116. Specialized CC-chemokine secretion by Th1 cells in destructive autoimmune myocarditis
  117. The Role of T/B Lymphocyte Collaboration in the Regulation of Autoimmune and Alloimmune Responses
  118. Elimination of maternally transmitted autoantibodies prevents diabetes in nonobese diabetic mice
  119. B-Cell Deficiency and Type 1 Diabetes
  120. Impaired Activation of Islet-Reactive CD4 T Cells in Pancreatic Lymph Nodes of B Cell-Deficient Nonobese Diabetic Mice
  121. TRACKING ALLOREACTIVE CELL DIVISION IN VIVO1
  122. A DIRECT METHOD FOR THE CALCULATION OF ALLOREACTIVE CD4+ T CELL PRECURSOR FREQUENCY1
  123. CD28 COSTIMULATION IN ALLOIMMUNE RESPONSES AGAINST MAJOR AND MINOR HISTOCOMPATIBILITY ANTIGENS
  124. B lymphocytes influence the shape of the mature preimmune CD4+ TCR repertoire
  125. Characterization of the alloimmune response to minor histocompatibility antigens by in vivo MLR
  126. In vivo MLR: a novel method for the study of alloimmune responses