Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes

Shepherd, Maggie, Shields, Beverley, Hammersley, Suzanne, Hudson, Michelle, McDonald, Timothy J., Colclough, Kevin, Oram, Richard A., Knight, Bridget +11 more·2016·Diabetes Care

Cited by (236)

Items 101–200 of 236

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  5. Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes
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  10. Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis
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  11. Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?
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  12. Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy
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  13. An update on the diagnosis and management of monogenic diabetes
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  14. Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits
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  15. Genetic perspectives on childhood monogenic diabetes: Diagnosis, management, and future directions
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  16. Genetic spectrum of neonatal diabetes
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  17. Genotype–phenotype correlations and response to glucose lowering therapy in subjects with HNF1β associated diabetes
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  18. Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy
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  19. Genetic and Functional Analyses of the Novel KLF11 Pro193Thr Variant in a Three-Generation Family with MODY7
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  20. Traditional clinical criteria outperform high-sensitivity C-reactive protein for the screening of hepatic nuclear factor 1 alpha maturity-onset diabetes of the young among young Asians with diabetes
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  23. The MODY-associated KCNK16 L114P mutation increases islet glucagon secretion and limits insulin secretion resulting in transient neonatal diabetes and glucose dyshomeostasis in adults
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  24. Clinical characteristics, treatment, and treatment switch after molecular‐genetic classification in individuals with maturity‐onset diabetes of the young: Insights from the multicenter real‐world DPV registry
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  31. Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia
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  32. The Maturity-Onset Diabetes of the Young (MODY) Calculator Overestimates MODY Probability in Hispanic Youth
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  33. Diagnostic Test Accuracy of Urine C-peptide Creatinine Ratio for the Correct Identification of the Type of Diabetes: A Systematic Review
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  34. Pediatric Monogenic Diabetes: A Unique Challenge and Opportunity
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  35. Beta cell function and insulin sensitivity in obese youth with maturity onset diabetes of youth mutations vs type 2 diabetes in TODAY: Longitudinal observations and glycemic failure
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  38. Case Report: Misdiagnosis of Maturity-Onset Diabetes of the Young as type 1, type 2 or gestational diabetes: insights from a Latin American tertiary center
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  41. The utility of MODY Probability Calculator in probands of families with early-onset autosomal dominant diabetes from Poland
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  45. Monogenic Diabetes Reported in South Asians: A Systematic Review
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  47. More than kin, less than kind: one family and the many faces of diabetes in youth
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  48. Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil
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  49. ABCC8 ‐related maturity‐onset diabetes of the young: Clinical features and genetic analysis of one case
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  50. Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age
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  51. Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry
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  52. Genetic and clinical insights into acute kidney injury in maturity‑onset diabetes of the young caused by the ABCC8 c.2500C>T mutation: Potential risk factors associated with SGLT2 inhibitors
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  53. Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience
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  55. A novel mutation in the ABCC8 gene causing maturity-onset diabetes of the young: A case report
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  57. Characteristics of patients with diagnosis of maturity-onset diabetes of the young, according to the Russian diabetes registry
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  83. Metabolic Disorders and Management of High-Risk Patients
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  96. Heterozygous RFX6 protein truncating variants are associated with Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance
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  97. The MODY-associated TALK-1 L114P mutation causes islet α-cell overactivity and β-cell inactivity resulting in transient neonatal diabetes and glucose dyshomeostasis in adults
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