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Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-00939-7
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- Publication type:
- Article
Elimination of maternally transmitted autoantibodies prevents diabetes in nonobese diabetic mice.
- Published in:
- Nature Medicine, 2002, v. 8, n. 4, p. 399, doi. 10.1038/nm0402-399
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- Publication type:
- Article
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
- Published in:
- 2017
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- Publication type:
- journal article
Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes.
- Published in:
- 2016
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- Publication type:
- journal article
Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons.
- Published in:
- 2014
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- Publication type:
- journal article
A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.
- Published in:
- Diabetologia, 2024, v. 67, n. 5, p. 940, doi. 10.1007/s00125-024-06103-w
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- Publication type:
- Article
The Do-It-Yourself Artificial Pancreas.
- Published in:
- 2021
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- Publication type:
- journal article
Hyperinsulinism in a neonate.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation.
- Published in:
- Journal of the Endocrine Society, 2023, v. 7, n. 3, p. 1, doi. 10.1210/jendso/bvac182
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- Publication type:
- Article
Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 4, p. 1, doi. 10.1210/jendso/bvac015
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- Publication type:
- Article
Development of a standardized MRI protocol for pancreas assessment in humans.
- Published in:
- PLoS ONE, 2021, v. 16, n. 8, p. 1, doi. 10.1371/journal.pone.0256029
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- Publication type:
- Article
Genetics and pathophysiology of neonatal diabetes mellitus.
- Published in:
- Journal of Diabetes Investigation, 2011, v. 2, n. 3, p. 158, doi. 10.1111/j.2040-1124.2011.00106.x
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- Publication type:
- Article
The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development).
- Published in:
- Hormone Research in Paediatrics, 2017, v. 87, n. 3, p. 1, doi. 10.1159/000455142
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- Publication type:
- Article
Transition from Insulin to Oral Sulfonylurea Therapy in Children with Diabetes Due to Activating Mutations in KCNJ11.
- Published in:
- Diabetes, 2007, v. 56, p. A699
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- Publication type:
- Article
Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.
- Published in:
- 2016
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- Publication type:
- journal article
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.
- Published in:
- Pediatric Diabetes, 2022, v. 23, n. 8, p. 1188, doi. 10.1111/pedi.13426
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- Publication type:
- Article
<italic>FOXP3</italic> mutations causing early‐onset insulin‐requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome.
- Published in:
- Pediatric Diabetes, 2018, v. 19, n. 3, p. 388, doi. 10.1111/pedi.12612
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- Publication type:
- Article
Hypoglycemia in sulfonylurea‐treated KCNJ11‐neonatal diabetes: Mild‐moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.
- Published in:
- Pediatric Diabetes, 2018, v. 19, n. 3, p. 393, doi. 10.1111/pedi.12599
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- Publication type:
- Article
ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.
- Published in:
- Pediatric Diabetes, 2017, v. 18, n. 7, p. 518, doi. 10.1111/pedi.12428
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- Publication type:
- Article
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
- Published in:
- Pediatric Diabetes, 2014, v. 15, n. 3, p. 252, doi. 10.1111/pedi.12086
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- Publication type:
- Article
Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
- Published in:
- Pediatric Diabetes, 2014, v. 15, n. 1, p. 67, doi. 10.1111/pedi.12063
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- Publication type:
- Article
HLA-DQ haplotypes differ by ethnicity in patients with childhood-onset diabetes.
- Published in:
- Pediatric Diabetes, 2011, v. 12, n. 4pt2, p. 388, doi. 10.1111/j.1399-5448.2010.00712.x
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- Publication type:
- Article
Diagnosis and treatment of neonatal diabetes: an United States experience.
- Published in:
- Pediatric Diabetes, 2008, v. 9, n. 5, p. 450, doi. 10.1111/j.1399-5448.2008.00433.x
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- Publication type:
- Article
Update of variants identified in the pancreatic β‐cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 884, doi. 10.1002/humu.23995
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- Publication type:
- Article
Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry.
- Published in:
- Acta Diabetologica, 2019, v. 56, n. 4, p. 405, doi. 10.1007/s00592-018-1267-z
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- Publication type:
- Article
Genomic sequencing in newborn screening programs.
- Published in:
- 2012
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- Publication type:
- Letter
Genomic Sequencing in Newborn Screening Programs.
- Published in:
- 2012
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- Publication type:
- Letter
Longitudinal Assessment of Pancreas Volume by MRI Predicts Progression to Stage 3 Type 1 Diabetes.
- Published in:
- Diabetes Care, 2024, v. 47, n. 3, p. 393, doi. 10.2337/dc23-1681
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- Publication type:
- Article
Insulin Deficiency From Insulin Gene Mutation Leads to Smaller Pancreas.
- Published in:
- Diabetes Care, 2023, v. 46, n. 4, p. 773, doi. 10.2337/dc22-2082
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- Publication type:
- Article
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated Permanent Neonatal Diabetes.
- Published in:
- 2021
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- Publication type:
- journal article
Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Editors' Expert Forum.
- Published in:
- 2020
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- Publication type:
- journal article
Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis.
- Published in:
- 2017
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- Publication type:
- Letter
Role of Noninsulin Therapies Alone or in Combination in Chromosome 6q24-Related Transient Neonatal Diabetes: Sulfonylurea Improves but Does Not Always Normalize Insulin Secretion.
- Published in:
- Diabetes Care, 2015, v. 38, n. 6, p. e86, doi. 10.2337/dc14-3056
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- Publication type:
- Article
Cost-Effectiveness of MODY Genetic Testing: Translating Genomic Advances Into Practical Health Applications.
- Published in:
- Diabetes Care, 2014, v. 37, n. 1, p. 202, doi. 10.2337/dc13-0410
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- Publication type:
- Article
Successful transition from insulin to sulfonylurea therapy in a patient with monogenic neonatal diabetes owing to a KCNJ11 F333L [corrected] mutation.
- Published in:
- 2013
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- Publication type:
- Case Study
Successful Transition From Insulin to Sulfonylurea Therapy in a Patient With Monogenic Neonatal Diabetes Owing to a KCNJ11 P333L Mutation.
- Published in:
- Diabetes Care, 2013, v. 36, n. 12, p. e201, doi. 10.2337/dc13-1690
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- Publication type:
- 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.
- Published in:
- 2012
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- Publication type:
- journal article
Visuomotor Performance in KCNJ1 1- Related Neonatal Diabetes Is Impaired in Children With DEND-Associated Mutations and May Be Improved by Early Treatment With Sulfonylureas.
- Published in:
- Diabetes Care, 2012, v. 35, n. 10, p. 2086, doi. 10.2337/dc11-2225
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- Publication type:
- Article
The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes.
- Published in:
- 2011
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- Publication type:
- journal article
The Cost-Effectiveness of Personalized Genetic Medicine.
- Published in:
- Diabetes Care, 2011, v. 34, n. 3, p. 622, doi. 10.2337/dc10-1616
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- Publication type:
- Article
Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect.
- Published in:
- 2009
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- Publication type:
- journal article
Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide.
- Published in:
- Diabetes Care, 2009, v. 32, n. 8, p. 1428, doi. 10.2337/dc09-0280
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- Publication type:
- Article
Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.
- Published in:
- 2018
- By:
- Publication type:
- journal article
1131-P: Clinical Prediction Models for MODY Genetic Testing in the United States Monogenic Diabetes Registry.
- Published in:
- Diabetes, 2021, v. 70, p. N.PAG, doi. 10.2337/db21-1131-P
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- Publication type:
- Article
178-LB: Insights from the University of Chicago Monogenic Diabetes Registry on Diagnosis and Management of Monogenic Diabetes.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-178-LB
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- Publication type:
- Article
166-LB: Participants with KATP-Related Neonatal Diabetes (KATP-NDM) Experience More Sleep Disruption than Sibling Controls.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-166-LB
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- Publication type:
- Article
161-LB: Neurodevelopmental Outcomes of Infancy-Onset Diabetes.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-161-LB
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- Publication type:
- Article
1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1453-P
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- Publication type:
- Article
1312-P: Pancreas Volume in Individuals with MODY 1, 2, 3, and 5.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1312-P
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- Publication type:
- Article