Item Type | Name |
Concept
|
Age Factors
|
Concept
|
Acanthosis Nigricans
|
Concept
|
Agammaglobulinemia
|
Concept
|
Algorithms
|
Concept
|
Amino Acid Sequence
|
Concept
|
Adenosine Triphosphate
|
Concept
|
Antigens, Differentiation
|
Concept
|
Animals
|
Concept
|
Chromosomes, Human, Pair 6
|
Concept
|
Histocompatibility Antigens Class II
|
Concept
|
B-Lymphocytes
|
Concept
|
Chimera
|
Concept
|
Autoantibodies
|
Concept
|
Birth Weight
|
Concept
|
Blood Glucose
|
Concept
|
Cell Division
|
Concept
|
Chemotaxis
|
Concept
|
Chicago
|
Concept
|
Chromosome Deletion
|
Concept
|
C-Peptide
|
Concept
|
Glutamate Decarboxylase
|
Concept
|
Diabetes Mellitus, Type 1
|
Concept
|
Diabetes Mellitus, Type 2
|
Concept
|
Diagnostic Errors
|
Concept
|
DNA-Binding Proteins
|
Concept
|
Diarrhea
|
Concept
|
Diazoxide
|
Concept
|
Diet
|
Concept
|
Insulin
|
Concept
|
Epilepsy
|
Concept
|
Down Syndrome
|
Concept
|
Cyclophosphamide
|
Concept
|
Duodenal Obstruction
|
Concept
|
Europe
|
Concept
|
Fluoresceins
|
Concept
|
Electrophysiology
|
Concept
|
Estradiol
|
Concept
|
Exons
|
Concept
|
Fathers
|
Concept
|
Expert Testimony
|
Concept
|
Congresses as Topic
|
Concept
|
Cost-Benefit Analysis
|
Concept
|
Cross-Sectional Studies
|
Concept
|
Fetal Growth Retardation
|
Concept
|
Infant, Newborn
|
Concept
|
Infant, Premature
|
Concept
|
Introns
|
Concept
|
Mice, Inbred C3H
|
Concept
|
Glucokinase
|
Concept
|
Nitrogen
|
Concept
|
Isoantigens
|
Concept
|
Obesity
|
Concept
|
Dose-Response Relationship, Drug
|
Concept
|
Hypoglycemic Agents
|
Concept
|
Immune Tolerance
|
Concept
|
Insulin Infusion Systems
|
Concept
|
Insulin-Like Growth Factor I
|
Concept
|
Flow Cytometry
|
Concept
|
Leukocytes, Mononuclear
|
Concept
|
HLA-DQ Antigens
|
Concept
|
Hospitals, University
|
Concept
|
Membrane Proteins
|
Concept
|
Lymphocyte Culture Test, Mixed
|
Concept
|
Mice, Inbred Strains
|
Concept
|
Microcephaly
|
Concept
|
Mosaicism
|
Concept
|
Lymphopenia
|
Concept
|
Mice, Transgenic
|
Concept
|
Models, Theoretical
|
Concept
|
Infant, Small for Gestational Age
|
Concept
|
Organ Size
|
Concept
|
Molecular Sequence Data
|
Concept
|
Intellectual Disability
|
Concept
|
Mice, Inbred BALB C
|
Concept
|
Mice, Inbred C57BL
|
Concept
|
Radiation Chimera
|
Concept
|
Ovary
|
Concept
|
Practice Patterns, Physicians'
|
Concept
|
Nerve Net
|
Concept
|
Pregnancy Outcome
|
Concept
|
Proinsulin
|
Concept
|
Protein Precursors
|
Concept
|
Psychomotor Performance
|
Concept
|
Histocompatibility Antigens
|
Concept
|
Glyburide
|
Concept
|
Image Processing, Computer-Assisted
|
Concept
|
Remission, Spontaneous
|
Concept
|
Receptor, Insulin
|
Concept
|
Registries
|
Concept
|
Risk Factors
|
Concept
|
Psychomotor Disorders
|
Concept
|
Quality of Life
|
Concept
|
Insulin Resistance
|
Concept
|
Interferon-gamma
|
Concept
|
Potassium Channels
|
Concept
|
Cohort Studies
|
Concept
|
Self-Help Groups
|
Concept
|
Health Knowledge, Attitudes, Practice
|
Concept
|
Risk
|
Concept
|
Sulfonylurea Compounds
|
Concept
|
Societies, Medical
|
Concept
|
Humans
|
Concept
|
Incidence
|
Concept
|
Bone Marrow Transplantation
|
Concept
|
Diabetes, Gestational
|
Concept
|
United States
|
Concept
|
United States Food and Drug Administration
|
Concept
|
Syndrome
|
Concept
|
Testis
|
Concept
|
Protein Engineering
|
Concept
|
CD28 Antigens
|
Concept
|
Th1 Cells
|
Concept
|
Neonatal Screening
|
Concept
|
Cell Culture Techniques
|
Concept
|
Community Networks
|
Concept
|
Turner Syndrome
|
Concept
|
Prevalence
|
Concept
|
Mice, Inbred DBA
|
Concept
|
Antigens, CD
|
Concept
|
Lymph Nodes
|
Concept
|
CD4-Positive T-Lymphocytes
|
Concept
|
Interleukin-4
|
Concept
|
Chi-Square Distribution
|
Concept
|
Vestibular Diseases
|
Concept
|
Intensive Care, Neonatal
|
Concept
|
Myocardium
|
Concept
|
Case-Control Studies
|
Concept
|
Treatment Outcome
|
Concept
|
Myocarditis
|
Concept
|
Point Mutation
|
Concept
|
Antigen Presentation
|
Concept
|
Gene Deletion
|
Concept
|
Patch-Clamp Techniques
|
Concept
|
CD8-Positive T-Lymphocytes
|
Concept
|
Patient-Centered Care
|
Concept
|
Th2 Cells
|
Concept
|
Blindness, Cortical
|
Concept
|
Hepatocyte Nuclear Factor 1-alpha
|
Concept
|
Chemokines, CC
|
Concept
|
eIF-2 Kinase
|
Concept
|
Mutation, Missense
|
Concept
|
Epitopes, T-Lymphocyte
|
Concept
|
Protein Folding
|
Concept
|
Self Report
|
Concept
|
Molecular Diagnostic Techniques
|
Concept
|
Fatal Outcome
|
Concept
|
Diffusion Magnetic Resonance Imaging
|
Concept
|
Genomic Imprinting
|
Concept
|
Microscopy, Confocal
|
Concept
|
Monitoring, Ambulatory
|
Concept
|
Amino Acid Substitution
|
Concept
|
Parents
|
Concept
|
Patient Participation
|
Concept
|
Pennsylvania
|
Concept
|
Internet
|
Concept
|
Quality-Adjusted Life Years
|
Concept
|
Adoptive Transfer
|
Concept
|
Potassium Channels, Inwardly Rectifying
|
Concept
|
Evidence-Based Medicine
|
Concept
|
Mice
|
Concept
|
Recombinant Proteins
|
Concept
|
Surveys and Questionnaires
|
Concept
|
Severity of Illness Index
|
Concept
|
Research Design
|
Concept
|
Lamin Type A
|
Concept
|
Sleep Wake Disorders
|
Concept
|
Congenital Hyperinsulinism
|
Concept
|
Testosterone
|
Concept
|
Quality Improvement
|
Concept
|
GATA6 Transcription Factor
|
Concept
|
Rats
|
Concept
|
Interleukin-2 Receptor alpha Subunit
|
Concept
|
Spleen
|
Concept
|
Adaptor Proteins, Signal Transducing
|
Concept
|
Insulin-Secreting Cells
|
Concept
|
Zinc
|
Concept
|
Epidemiologic Research Design
|
Concept
|
Hepatocyte Nuclear Factor 4
|
Concept
|
Selection Bias
|
Concept
|
DNA Copy Number Variations
|
Concept
|
Frameshift Mutation
|
Concept
|
Reproducibility of Results
|
Concept
|
Minor Histocompatibility Antigens
|
Concept
|
ATP-Binding Cassette Transporters
|
Concept
|
Patient Selection
|
Concept
|
DNA Methylation
|
Concept
|
Homeodomain Proteins
|
Concept
|
CD4 Lymphocyte Count
|
Concept
|
Histone Demethylases
|
Concept
|
Health Care Surveys
|
Concept
|
Intestinal Volvulus
|
Concept
|
Diabetes Complications
|
Concept
|
KATP Channels
|
Concept
|
Pathology, Molecular
|
Concept
|
Precision Medicine
|
Concept
|
Siblings
|
Concept
|
Chromosome Duplication
|
Concept
|
Organogenesis
|
Concept
|
Premature Birth
|
Concept
|
Forkhead Transcription Factors
|
Concept
|
Induced Pluripotent Stem Cells
|
Concept
|
HLA-DQ alpha-Chains
|
Concept
|
Carrier Proteins
|
Concept
|
Cells, Cultured
|
Concept
|
Dental Enamel Hypoplasia
|
Concept
|
Diabetes Mellitus
|
Concept
|
Epilepsy, Generalized
|
Concept
|
Fluorescent Dyes
|
Concept
|
Follow-Up Studies
|
Concept
|
Genetic Testing
|
Concept
|
Gestational Age
|
Concept
|
Immunoglobulins
|
Concept
|
Longitudinal Studies
|
Concept
|
Lymphocyte Activation
|
Concept
|
Lymphocytes
|
Concept
|
Magnetic Resonance Imaging
|
Concept
|
Mice, Mutant Strains
|
Concept
|
Models, Biological
|
Concept
|
Neoplasm Proteins
|
Concept
|
Neurologic Manifestations
|
Concept
|
Nuclear Proteins
|
Concept
|
Predictive Value of Tests
|
Concept
|
Prospective Studies
|
Concept
|
Receptors, Antigen, T-Cell
|
Concept
|
Retrospective Studies
|
Concept
|
T-Lymphocytes
|
Concept
|
Blood Glucose Self-Monitoring
|
Concept
|
Immunophenotyping
|
Concept
|
Mice, SCID
|
Concept
|
Mice, Inbred NOD
|
Concept
|
Age of Onset
|
Concept
|
Genetic Predisposition to Disease
|
Concept
|
Genomics
|
Concept
|
Uniparental Disomy
|
Concept
|
Rare Diseases
|
Concept
|
Chromosomes, Human, Y
|
Concept
|
Ovotesticular Disorders of Sex Development
|
Concept
|
Anti-Mullerian Hormone
|
Concept
|
Evidence-Based Practice
|
Concept
|
Insulin, Regular, Human
|
Academic Article
|
Insulin gene mutations as a cause of permanent neonatal diabetes.
|
Academic Article
|
Diagnosis and treatment of neonatal diabetes: a United States experience.
|
Academic Article
|
Update in neonatal diabetes.
|
Academic Article
|
Neonatal diabetes mellitus: a model for personalized medicine.
|
Academic Article
|
Onset features and subsequent clinical evolution of childhood diabetes over several years.
|
Academic Article
|
The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes.
|
Academic Article
|
Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.
|
Academic Article
|
HLA-DQ haplotypes differ by ethnicity in patients with childhood-onset diabetes.
|
Academic Article
|
Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes.
|
Academic Article
|
Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect.
|
Academic Article
|
Genomic sequencing in newborn screening programs.
|
Academic Article
|
Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas.
|
Academic Article
|
I-Ag7-mediated antigen presentation by B lymphocytes is critical in overcoming a checkpoint in T cell tolerance to islet beta cells of nonobese diabetic mice.
|
Academic Article
|
Elimination of maternally transmitted autoantibodies prevents diabetes in nonobese diabetic mice.
|
Academic Article
|
The role of t/b lymphocyte collaboration in the regulation of autoimmune and alloimmune responses.
|
Academic Article
|
Specialized CC-chemokine secretion by Th1 cells in destructive autoimmune myocarditis.
|
Academic Article
|
NOD B-cells are insufficient to incite T-cell-mediated anti-islet autoimmunity.
|
Academic Article
|
Cutting edge: alloimmune responses against major and minor histocompatibility antigens: distinct division kinetics and requirement for CD28 costimulation.
|
Academic Article
|
Educating future leaders of medical research: analysis of student opinions and goals from the MD-PhD SAGE (Students' Attitudes, Goals, and Education) survey.
|
Academic Article
|
Educational views and attitudes, and career goals of MD-PhD students at the University of Pennsylvania School of Medicine.
|
Academic Article
|
Impaired activation of islet-reactive CD4 T cells in pancreatic lymph nodes of B cell-deficient nonobese diabetic mice.
|
Academic Article
|
B-cell deficiency and type 1 diabetes.
|
Academic Article
|
MD-PhD students in a major training program show strong interest in becoming surgeon-scientists.
|
Academic Article
|
Tracking alloreactive cell division in vivo.
|
Academic Article
|
Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.
|
Academic Article
|
Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking.
|
Academic Article
|
Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications.
|
Academic Article
|
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
|
Academic Article
|
Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons.
|
Academic Article
|
Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
|
Academic Article
|
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
|
Academic Article
|
Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.
|
Academic Article
|
Hyperinsulinism in a neonate.
|
Academic Article
|
Successful transition from insulin to sulfonylurea therapy in a patient with monogenic neonatal diabetes owing to a KCNJ11 F333L [corrected] mutation.
|
Academic Article
|
Genetics and pathophysiology of neonatal diabetes mellitus.
|
Academic Article
|
Response letter to the editor.
|
Academic Article
|
Commentary: Launch of a quality improvement network for evidence-based management of uncommon pediatric endocrine disorders: Turner syndrome as a prototype.
|
Academic Article
|
Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretion.
|
Academic Article
|
Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes.
|
Academic Article
|
Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.
|
Academic Article
|
An online monogenic diabetes discussion group: supporting families and fueling new research.
|
Academic Article
|
Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation.
|
Academic Article
|
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.
|
Academic Article
|
Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.
|
Academic Article
|
Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes.
|
Academic Article
|
ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.
|
Academic Article
|
The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)?.
|
Academic Article
|
Reprogramming human T cell function and specificity with non-viral genome targeting.
|
Academic Article
|
Early Intensive Insulin Use May Preserve ß-Cell Function in Neonatal Diabetes Due to Mutations in the Proinsulin Gene.
|
Academic Article
|
Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.
|
Academic Article
|
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
|
Academic Article
|
FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
|
Academic Article
|
Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis.
|
Academic Article
|
ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.
|
Academic Article
|
Precision medicine in KCNJ11 permanent neonatal diabetes.
|
Academic Article
|
Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.
|
Academic Article
|
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
|
Academic Article
|
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
|
Academic Article
|
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
|
Academic Article
|
Monogenic diabetes: the impact of making the right diagnosis.
|
Academic Article
|
Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry.
|
Grant
|
Chicagoland Diabetes TrialNet Clinical Center
|
Grant
|
Incretin Regulation of Insulin Secretion in Human Neonatal Diabetes
|
Grant
|
KCNJ11 Diabetes: Exploring the Role of KATP Channels in the Brain
|
Grant
|
Pediatric Endocrinology Research Training Grant
|
Academic Article
|
Congenital forms of diabetes: the beta-cell and beyond.
|
Academic Article
|
GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.
|
Academic Article
|
Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison With GCK-MODY (MODY2).
|
Academic Article
|
Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.
|
Academic Article
|
Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
|
Academic Article
|
Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
|
Academic Article
|
A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line.
|
Academic Article
|
Using a Do-It-Yourself Artificial Pancreas: Perspectives from Patients and Diabetes Providers.
|
Academic Article
|
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.
|
Academic Article
|
Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors' Expert Forum.
|
Academic Article
|
Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
|
Academic Article
|
The Do-It-Yourself Artificial Pancreas.
|
Academic Article
|
Development of a standardized MRI protocol for pancreas assessment in humans.
|
Academic Article
|
Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes.
|
Academic Article
|
Growth and development in monogenic forms of neonatal diabetes.
|
Academic Article
|
Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.
|
Academic Article
|
Nitrogen retention during late gestation in the rat in response to marginal zinc intake.
|
Academic Article
|
Insight on Diagnosis and Treatment From Over a Decade of Research Through the University of Chicago Monogenic Diabetes Registry.
|
Academic Article
|
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.
|
Academic Article
|
Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation.
|
Academic Article
|
Insulin Deficiency From Insulin Gene Mutation Leads to Smaller Pancreas.
|
Concept
|
Gene Editing
|
Concept
|
Regulatory Factor X Transcription Factors
|
Concept
|
Loss of Function Mutation
|
Concept
|
Gain of Function Mutation
|
Concept
|
Infant, Extremely Premature
|
Concept
|
CRISPR-Cas Systems
|
Concept
|
Sulfonylurea Receptors
|
Academic Article
|
Systematic Review of Treatment of Beta-Cell Monogenic Diabetes.
|
Academic Article
|
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.
|
Academic Article
|
Longitudinal Assessment of Pancreas Volume by MRI Predicts Progression to Stage 3 Type 1 Diabetes.
|
Academic Article
|
A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.
|
Academic Article
|
RFX6 regulates human intestinal patterning and function upstream of PDX1.
|