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

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Items 201–236 of 236

1. QUANDO IL DIABETE MELLITO DI TIPO 2 NON BASTA: UN CASO DI MODY MISCONOSCIUTO
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2. Improving patient care in monogenic diabetes through research and education
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3. A novel mutation in KCNK16 causing a gain-of-function in the TALK-1 potassium channel: a new cause of maturity onset diabetes of the young
   Sarah M. Graff, Stephanie R. Johnson, Paul J. Leo, Prasanna K. Dadi, Arya Y. Nakhe, Aideen M McInerney-Leo, Mhairi S. Marshall, Matthew Arthur Brown, David Aaron Jacobson, Emma L. Duncan · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
4. New results for monogenic diabetes with analysis of causative genes using next-generation sequencing: a tertiary centre experience from Turkey
   Ersen Karakılıç, Emre Sedar Saygılı, Fatma Sılan, Gonca Gül Öndüç, Ugurcan Agcaoglu · 2021 · International Journal of Diabetes in Developing Countries
5. Molekulargenetische Diagnostik des Diabetes mellitus
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6. Prevalence and characteristics of misdiagnosed adult-onset type 1 diabetes mellitus in Thai people by random plasma C-peptide testing
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7. The MODY-associated KCNK16 L114P mutation increases islet glucagon secretion and limits insulin secretion resulting in transient neonatal diabetes and glucose dyshomeostasis in adults
   Arya Y. Nakhe, Prasanna K. Dadi, Jin‐Sun Kim, Matthew T. Dickerson, Soma Behera, Jordyn R. Dobson, Shristi Shrestha, Jean‐Philippe Cartailler, Leesa L. Sampson, Mark A. Magnuson et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
8. Novel pathogenicPDX1gene variant in a Korean family with maturity-onset diabetes of the young
   Hyunji Kim, Hwa Young Kim, Jae Hyun Kim, Soo Hyun Seo, Kyoung Un Park · 2023 · Molecular Case Studies
9. Skeletal Health in Patients With Mitochondrial Diabetes: Case Series and Review of Literature
   Kagan Ege Karakus, Varun Suryadevara, Austin A Larson, Prathosh Gangadhar, Viral N. Shah · 2023 · JBMR Plus
10. Targeted next-generation sequencing for maturity onset diabetes of the young (MODY) in a South Indian cohort of type 1 diabetes mellitus patients with preserved C-peptide
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11. Monogenic Causes of Diabetes
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12. The HNF1B mutations and deletion associated with diabetes and their resulting diabetic phenotypes: a systematic review
    Yating Li, Xueyao Han · 2024 · International Journal of Diabetes in Developing Countries
13. The MODY-associated KCNK16 L114P mutation increases islet glucagon secretion and limits insulin secretion resulting in transient neonatal diabetes and glucose dyshomeostasis in adults
    Arya Y. Nakhe, Prasanna K. Dadi, Jin‐Sun Kim, Matthew T. Dickerson, Soma Behera, Jordyn R. Dobson, Shristi Shrestha, Jean‐Philippe Cartailler, Leesa L. Sampson, Mark A. Magnuson et al. · 2024
14. Course of pregnancy and 10-year observation of twins diagnosed with GCK-MODY in the neonatal period: a case report
    Barbara Katra, Magdalena Szopa · 2024 · Frontiers in Endocrinology
15. Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia
    Oğuzhan Yaralı, Ayberk Türkyılmaz, Muharrem Bayrak, Mustafa Can Güler, Atilla Çayır · 2025 · Molecular Syndromology
16. Diagnostik, Therapie und Verlaufskontrolle des Diabetes mellitus Typ 1 im Kindes- und Jugendalter
    Martin Holder, Clemens Kamrath, Karin Lange, Sebastian Kummer, Ralph Ziegler · 2025 · Die Diabetologie
17. Diagnosis, Therapy and Follow-Up of Type 1 Diabetes Mellitus in Children and Adolescents
    Martin Holder, Ralph Ziegler, Clemens Kamrath, Karin Lange, Sebastian Kummer · 2025 · Experimental and Clinical Endocrinology & Diabetes
18. Antibody-Positive Type 1 Diabetes in a Family With a Pathogenic HNF1A-MODY Variant and Variable Age of Onset
    Michael E. McCullough, Anisa M Dye, Balamurugan Kandasamy, Siri Atma W. Greeley, Rochelle N. Naylor, Louis H. Philipson · 2025 · JCEM Case Reports
19. INSR gene mutation masquerading as type 1 diabetes – A case report
    Ruchi Aneesh Shah, Shalmi Mehta, Jaikumar B. Contractor, Viswanathan Mohan, Venkatesan Radha, Pratik Shah · 2025 · Journal of Pediatric Endocrinology and Diabetes
20. Additional file 2 of Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review
    Ibrar Rafique, Mir, Asif, Saqib, Muhammad Arif Nadeem, Muhammad Naeem, Luc Marchand, Polychronakos, Constantin · 2021 · Figshare
21. Additional file 3 of Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review
    Ibrar Rafique, Mir, Asif, Saqib, Muhammad Arif Nadeem, Muhammad Naeem, Luc Marchand, Polychronakos, Constantin · 2021 · Figshare
22. Additional file 1 of Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review
    Ibrar Rafique, Mir, Asif, Saqib, Muhammad Arif Nadeem, Muhammad Naeem, Luc Marchand, Polychronakos, Constantin · 2021 · Figshare
23. Diagnostik, Therapie und Verlaufskontrolle des Diabetes mellitus im Kindes- und Jugendalter
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24. A clinical prediction model for beta cell monogenetic diabetes in Chinese patients with early-onset type 2 diabetes
    Siyu Sun, Siqian Gong, Tianhao Ba, Meng Li, Wei Liu, Rui zhang, Yumin Ma, Fang Wang, Xiaoling Cai, Yingying Luo et al. · 2026 · Diabetes & Metabolism
25. Molecular diagnosis of maturity-onset diabetes of the young via whole-exome sequencing: a cohort study in Taizhou, China
    Na Wang, Shenjiao Dong, Lingling Hu, Chenliang Hong, Bingjie Hu, Shuaishuai Chen, Juping Du, Donglian Wang, Minya Jin, Xianhong Ding et al. · 2026 · Endocrine
26. Prediction of maturity-onset diabetes of the young subtypes using machine learning
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27. Diagnostik, Therapie und Verlaufskontrolle des Diabetes mellitus im Kindes- und Jugendalter
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28. The Role of Hepatocyte-Nuclear-Factor-1-A (HNF1A) in the Regulation of Glucose Homeostasis and Pancreatic Hormone Secretion
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29. Genetische, endokrine, medikamentöse und pankreoprive Diabetesformen und exokrine Pankreasinsuffizienz (Update 2026)
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30. Maturity onset diabetes of the young in pregnancy: management, treatment and neonatal outcomes—a systematic review
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31. Genetics and clinical landscape of pediatric monogenic diabetes in consanguineous cohort: high diagnostic yield and recessive burden
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32. Genetics of Monogenic Forms of Diabetes
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33. The landscape of monogenic diabetes in Italy. Comparisons with other European countries
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34. The central role of the β-cell in diabetes: from monogenic forms to type 1, type 2, and gestational diabetes
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35. Predicting diagnostic gene biomarkers associated with immune infiltration in patients with diabetes
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36. Diagnostik, Therapie und Verlaufskontrolle des Diabetes mellitus im Kindes- und Jugendalter – Praxisempfehlung der DDG
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