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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
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
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.
- Published in:
- Acta Diabetologica, 2016, v. 53, n. 5, p. 703, doi. 10.1007/s00592-016-0859-8
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- Publication type:
- 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
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
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
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
1283-P: Multicenter Assessment of the Pancreas in Type 1 Diabetes (MAP-T1D).
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1283-P
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- Publication type:
- Article
127-LB: Characteristics of INS-MODY Participants in a National Diabetes Registry.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-127-LB
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- Publication type:
- Article
61-LB: Use of Functional Near-Infrared Spectroscopy (fNIRS) to Assess Cognitive Effort in KATP-Related Neonatal Diabetes (KATP-NDM).
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-61-LB
- By:
- Publication type:
- Article
50-LB: Behavior and Learning Challenges in ABCC8-Related Neonatal Diabetes.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-50-LB
- By:
- Publication type:
- Article
2264-PUB: Progress in Curating Gene–Disease Relationships by the ClinGen Monogenic Diabetes Expert Panel.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-2264-PUB
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- Publication type:
- Article
Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison With GCK-MODY (MODY2).
- Published in:
- 2019
- By:
- Publication type:
- journal article
Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.
- Published in:
- 2019
- By:
- Publication type:
- journal article
124-LB: Patients' Experiences with a Do-It-Yourself Artificial Pancreas and Perspectives of the Endocrinologist's Role in Supporting Their Use.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-124-LB
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- Publication type:
- Article
184-LB: Pancreatic Hypoplasia Patients Experience Poor Weight Gain and Labile Diabetes without Diabetic Ketoacidosis (DKA).
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-184-LB
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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
NOD B-cells Are Insufficient to Incite T-Cell-Mediated Anti-islet Autoimmunity.
- Published in:
- Diabetes, 2005, v. 54, n. 7, p. 2019, doi. 10.2337/diabetes.54.7.2019
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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
Gain-of-Function Mutations in the K<sub>ATP</sub> Channel (KCNJ11) Impair Coordinated Hand-Eye Tracking.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0062646
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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
Commentary: Launch of a quality improvement network for evidence-based management of uncommon pediatric endocrine disorders: Turner syndrome as a prototype.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Response letter to the editor.
- Published in:
- 2015
- By:
- Publication type:
- commentary
Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons.
- Published in:
- 2014
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- Publication type:
- journal article
Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes.
- Published in:
- Diabetologia, 2015, v. 58, n. 7, p. 1430, doi. 10.1007/s00125-015-3593-9
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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
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
Neonatal Diabetes: An Expanding List of Genes Allows for Improved Diagnosis and Treatment.
- Published in:
- Current Diabetes Reports, 2011, v. 11, n. 6, p. 519, doi. 10.1007/s11892-011-0234-7
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- Publication type:
- Article
The role of T/B lymphocyte collaboration in the regulation of autoimmune and alloimmune responses.
- Published in:
- Immunologic Research, 2003, v. 27, n. 2/3, p. 443, doi. 10.1385/IR:27:2-3:443
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- Publication type:
- 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
ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.
- Published in:
- Pediatric Diabetes, 2018, v. 19, p. 47, doi. 10.1111/pedi.12772
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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
Onset features and subsequent clinical evolution of childhood diabetes over several years.
- Published in:
- Pediatric Diabetes, 2011, v. 12, n. 4pt1, p. 326, doi. 10.1111/j.1399-5448.2010.00706.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
- By:
- 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