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Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options

Current diabetes reports, 2018-08, Vol.18 (8), p.58-13, Article 58

2018

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α Cell Function and Gene Expression Are Compromised in Type 1 Diabetes

Cell reports (Cambridge), 2018-03, Vol.22 (10), p.2667-2676

2018

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Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis

Diabetes care, 2017-10, Vol.40 (10), p.e147-e148

2017

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P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians

Genetics in Medicine Open, 2024, Vol.2, p.101138, Article 101138

2024

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Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry

Acta diabetologica, 2019-04, Vol.56 (4), p.405-411

2019

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Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA

The journal of clinical endocrinology and metabolism, 2018-01, Vol.103 (1), p.35-45

2018

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GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants

Diabetes research and clinical practice, 2019-05, Vol.151, p.231-236

2019

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FOXP3 mutations causing early‐onset insulin‐requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome

Pediatric diabetes, 2018-05, Vol.19 (3), p.388-392

2018

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P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

Genetics in Medicine Open, 2023, Vol.1 (1), p.100500, Article 100500

2023

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WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon

Human molecular genetics, 2008-12, Vol.17 (24), p.4012-4021

2008

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Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks

The Journal of clinical investigation, 2019-01, Vol.129 (1), p.246-251

2019

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Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes

Diabetes research and clinical practice, 2021-05, Vol.175, p.108798-108798, Article 108798

2021

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De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

American journal of human genetics, 2023-05, Vol.110 (5), p.846-862

2023

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A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line

Cell stem cell, 2020-07, Vol.27 (1), p.137-146.e6

2020

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Insulin Treatment and Clinical Outcomes in 67 Participants with Infancy-Onset Diabetes

Diabetes (New York, N.Y.), 2018-07, Vol.67 (Supplement_1)

2018

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Identifying Patients with GDM at Risk for GCK-MODY

Diabetes (New York, N.Y.), 2018-07, Vol.67 (Supplement_1)

2018

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178-LB: Insights from the University of Chicago Monogenic Diabetes Registry on Diagnosis and Management of Monogenic Diabetes

Diabetes (New York, N.Y.), 2020-06, Vol.69 (Supplement_1)

2020

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Clinical Utility of the T1D Genetic Risk Score—Examples from the U.S. Monogenic Diabetes Registry

Diabetes (New York, N.Y.), 2018-07, Vol.67 (Supplement_1)

2018

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Prevalence of RFC1 -mediated spinocerebellar ataxia in a North American ataxia cohort

Neurology. Genetics, 2020-06, Vol.6 (3), p.e440-e440

2020

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Human islets expressing HNF1A variant have defective cell transcriptional regulatory networks

The Journal of clinical investigation, 2019-01, Vol.129 (1), p.246

2019

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A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.140-143

2014

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SUN-143 Does a Monogenic Diabetes Diagnosis Impact Quality of Life?

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

2019

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Insight on Diagnosis and Treatment From Over a Decade of Research Through the University of Chicago Monogenic Diabetes Registry

Frontiers in clinical diabetes and healthcare (online), 2021-11, Vol.2

2021

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Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options

Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

α Cell Function and Gene Expression Are Compromised in Type 1 Diabetes

Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis

P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians

Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry

Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants

FOXP3 mutations causing early‐onset insulin‐requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome

P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon

Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks

Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line

Insulin Treatment and Clinical Outcomes in 67 Participants with Infancy-Onset Diabetes

Identifying Patients with GDM at Risk for GCK-MODY

178-LB: Insights from the University of Chicago Monogenic Diabetes Registry on Diagnosis and Management of Monogenic Diabetes

Clinical Utility of the T1D Genetic Risk Score—Examples from the U.S. Monogenic Diabetes Registry

Prevalence of RFC1 -mediated spinocerebellar ataxia in a North American ataxia cohort

Human islets expressing HNF1A variant have defective cell transcriptional regulatory networks

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

SUN-143 Does a Monogenic Diabetes Diagnosis Impact Quality of Life?

Insight on Diagnosis and Treatment From Over a Decade of Research Through the University of Chicago Monogenic Diabetes Registry

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