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
- Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young ( MODY ): A novel ABCC8 mutation in a previously screened familyStephanie R. Johnson, Paul Leo, Louise S. Conwell, Mark Anglin Harris, Matthew Arthur Brown, Emma L. Duncan · 2018 · Journal of Diabetes
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- Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson et al. · 2023 · Journal of Translational Medicine
- Transient Neonatal Diabetes: An Etiologic Clue for the Adult DiabetologistAnela Novak, Pamela Bowman, Ivana Kraljević, Marija Tripolski, Jayne Houghton, Elisa De Franco, Maggie H. Shepherd, Veselin Škrabić, Kashyap Patel · 2019 · Canadian Journal of Diabetes
- Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetesPernille Svalastoga, Alba Kaci, Janne Molnes, Marie Holm Solheim, Bente Berg Johansson, Lars Krogvold, Torild Skrivarhaug, Eivind Valen, Stefan Johansson, Anders Molven et al. · 2023 · Diabetologia
- Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes PresentationCaroline Lenfant, Patrick Baz, Anne Degavre, Anne Philippi, Valérie Senée, Claire Vandiedonck, Céline Derbois, Marc P Nicolino, Pierre Zalloua, Cécile Julier · 2017 · Genes
- Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODYLuke N Sharp, Kevin Colclough, Jacques Murray Leech, Stuart J Cannon, Thomas William Laver, Andrew Tym Hattersley, Michael N. Weedon, Kashyap Amratlal Patel · 2025 · The Journal of Clinical Endocrinology & Metabolism
- Diabetes Mellitus Diagnosed in Childhood and Adolescence With Negative Autoimmunity: Results of Genetic InvestigationMarilea Lezzi, Concetta Aloi, Alessandro Salina, Martina Fragola, Marta Bassi, Marina Francesca Strati, Giuseppe d’Annunzio, Nicola Minuto, Mohamad Maghnie · 2022 · Frontiers in Endocrinology
- A new screening strategy and whole‐exome sequencing for the early diagnosis of maturity‐onset diabetes of the youngYue Liu, Zhiguo Xie, Xiaoxiao Sun, Yanfei Wang, Yang Xiao, Shuoming Luo, Gan Huang, Xia Li, Ying Xia, Zhiguang Zhou · 2020 · Diabetes/Metabolism Research and Reviews
- Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosisBeverley M. Shields, Annelie Carlsson, Kashyap Amratlal Patel, Julieanne Knupp, Akaal Kaur, Des Johnston, Kevin Colclough, Helena Elding Larsson, Gun Forsander, Ulf Samuelsson et al. · 2024 · Scientific Reports
- Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?Shideh Majidi, Alexandra Fouts, Laura L. Pyle, Christina Chambers, Taylor Armstrong, Zhenyuan Wang, Sat Dev Batish, GEORGEANNA JONES KLINGENSMITH, Andrea K. Steck · 2018 · Diabetes Technology & Therapeutics
- Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathyNikolai Paul Pace, Johann Craus, Alex E. Felice, Josanne Vassallo · 2018 · BMC Endocrine Disorders
- An update on the diagnosis and management of monogenic diabetesKevin Colclough, Rachel van Heugten, Kashyap Amratlal Patel · 2022 · Practical Diabetes
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- Genetic perspectives on childhood monogenic diabetes: Diagnosis, management, and future directionsHongyan Sun, Xiao-Yan Lin · 2023 · World Journal of Diabetes
- Genetic spectrum of neonatal diabetesMirjana Kočova · 2020 · Balkan Journal of Medical Genetics
- Genotype–phenotype correlations and response to glucose lowering therapy in subjects with HNF1β associated diabetesNicholas Ng, Matilde Bettina Mijares Zamuner, Najia Siddique, Joon Mee Kim, Marie Burke, Maria M. Byrne · 2021 · Acta Diabetologica
- Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic AtrophySaud Alwatban, Haifa Alfaraidi, Abdulaziz Alosaimi, Iram Alluhaydan, Majid Alfadhel, Michel Polak, Angham Almutair · 2021 · Frontiers in Endocrinology
- Genetic and Functional Analyses of the Novel KLF11 Pro193Thr Variant in a Three-Generation Family with MODY7Gaopeng Guan, Tiantian Qin, Liling Zhao, Ping Jin · 2022 · Hormone and Metabolic Research
- 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 diabetesSURESH RAMA CHANDRAN, Jaydutt Digambar Bhalshankar, Rashida Farhad Vasanwala, Yi Jing Zhao, Katharine R. Owen, Daphne Su-Lyn Gardner · 2018 · Therapeutic Advances in Endocrinology and Metabolism
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- The MODY-associated KCNK16 L114P mutation increases islet glucagon secretion and limits insulin secretion resulting in transient neonatal diabetes and glucose dyshomeostasis in adultsArya 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 · eLife
- 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 registryStefanie Lanzinger, Katharina Laubner, Katharina Warncke, Julia Katharina Mader, Sebastian Kummer, Claudia Boettcher, Torben Biester, Angela Galler, Daniela Klose, Reinhard Walter Holl · 2024 · Journal of Diabetes
- Pathogenetic therapeutic approaches for endocrine diseases based on antisense oligonucleotides and RNA-interferenceOlga O. Golounina, Ildar R. Minniakhmetov, Салахов Рамиль Ринатович, Rita Igorevna Khusainova, Ekaterina Zakharova, Igor O. Bychkov, Natalia G. Mokrysheva · 2025 · Frontiers in Endocrinology
- Human Pluripotent Stem Cells Go Diabetic: A Glimpse on Monogenic VariantsSandra Heller, Michael Karl Melzer, Ninel Azoitei, Cécile Julier, Alexander Kleger · 2021 · Frontiers in Endocrinology
- Diabetes in Adolescents and Children in Saudi Arabia: A Systematic reviewNazim Faisal Hamed, Awad S. Alqahtani, Nader Mousa Rubayyi Albalawi, Fawaz Khalifah M Alanazi, Faisal Mohammed Alharbi, Badriah Abdulrahman Alsabah, Areej Mohammed Alatawi, Aljawharah Ibrahim Alghuraydh · 2021 · Archives of Pharmacy Practice
- Incidence of HNF1A and GCK MODY Variants in a South African PopulationTandi Edith Matsha, Shanel Raghubeer, Abegail Mukhethwa Tshivhase, Saarah F. G. Davids, Gloudina Maria Hon, Lise Bjørkhaug, Rajiv Timothy Erasmus · 2020 · The Application of Clinical Genetics
- A Systematic Review of the use of Precision Diagnostics in Monogenic DiabetesRinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Iklé, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint‐Martin, Janne Molnes, ADA/EASD Precision Medicine Diabetes Initiative, Shivani Misra et al. · 2023 · medRxiv
- Maturity-onset Diabetes of the Young Type 7 (MODY7) and the Krüppellike Factor 11 Mutation (KLF11). A ReviewPedro Mancera-Rincón, Maria Camila Luna España, Oswaldo Rincón, Issac Guzmán, Mauricio Álvarez · 2023 · Current Diabetes Reviews
- Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemiaYanfei Wang, Xiaoyu Xiao, Qiuqiu Lin, Rong Song, Xiaozhou Wang, Yiji Liang, Jingsong Chen, Xiaojun Luan, Zhiguang Zhou, Yang Xiao et al. · 2023 · Journal of Diabetes Investigation
- The Maturity-Onset Diabetes of the Young (MODY) Calculator Overestimates MODY Probability in Hispanic YouthGuido Alarcon, Anh Minh Nguyen, Angus G. Jones, Beverley M. Shields, MARIA JOSE REDONDO, Mustafa Tosur · 2024 · The Journal of Clinical Endocrinology & Metabolism
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- Pediatric Monogenic Diabetes: A Unique Challenge and OpportunityAnastasia G. Harris, Rochelle N. Naylor · 2019 · Pediatric Annals
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- Review of Monogenic Diabetes: Clinical Features and Precision Medicine in Genetic Forms of DiabetesErin C. Cobry, Andrea K. Steck · 2025 · Diabetes Technology & Therapeutics
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- Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case reportJean-Claude Njabou Katte, Mesmin Yefou Dehayem, Kevin Colclough, Eugène Sobngwi · 2024 · Journal of Medical Case Reports
- The utility of MODY Probability Calculator in probands of families with early-onset autosomal dominant diabetes from PolandJerzy Hohendorff, Barbara Zapała, Agnieszka H. Ludwig‐Słomczyńska, Iwona Solecka, Damian Ucieklak, Bartłomiej Matejko, Sandra Mrozińska, Maciej Tadeusz Malecki, Magdalena Szopa · 2020 · Minerva Medica
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- Management of Diabetes MellitusAlicia Josephine Jenkins, EMMA S. SCOTT, Jordan Fulcher, Gary Kilov, Andrzej S. Januszewski · 2018 · Contemporary cardiology
- Emerging phenotype: Maturity-onset diabetes of the young type 5 (MODY-5) – mechanisms, clinical spectrum, and unmet needsFahrul Nurkolis, Rony Abdi Syahputra, Andika Priamas Nugrahanto, Nurpudji Astuti Taslim, Arifa Mustika, Raymond R. Tjandrawinata, Dante Saksono Harbuwono, Sidartawan Soegondo · 2025 · Diabetology & Metabolic Syndrome
- Monogenic Diabetes Reported in South Asians: A Systematic ReviewVenkatesan Radha, Sekar Kanthimathi, Anandakumar Amutha, Balaji Bhavadharini, Ranjit Mohan Anjana, Ranjit Unnikrishnan I, Viswanathan Mohan · 2023 · Journal of the Indian Institute of Science
- Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndromeKévin Perge, Émilie Capel, Valérie Senée, Cécile Julier, Corinne Vigouroux, Marc P Nicolino · 2024 · Reviews in Endocrine and Metabolic Disorders
- More than kin, less than kind: one family and the many faces of diabetes in youthLuciana F. Franco, Renata Peixoto-Barbosa, Renata Pires Dotto, José Gilberto H. Vieira, Magnus Regios Dias-da-Silva, L. C. F. Reis, Fernando M. A. Giuffrida, André Fernandes Reis · 2017 · Archives of Endocrinology and Metabolism
- Identification of Variants Responsible for Monogenic Forms of Diabetes in BrazilGabriella de Medeiros Abreu, Roberta Magalhães Tarantino, Ana Carolina Proença da Fonseca, Juliana Rosa Ferreira de Oliveira Andrade, Ritiele Bastos de Souza, Camila de Almeida Pereira Dias Soares, Amanda Cambraia, Pedro Hernán Cabello, Melanie Rodacki, Lenita Zajdenverg et al. · 2022 · Frontiers in Endocrinology
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- Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes RegistryForough Noohi, Manu S. Sundaresan, Rochelle N. Naylor, Lainie Friedman Ross · 2023 · Genetics in Medicine
- 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 inhibitorsJing Zou, Xiang Chen, Hongping Yu, Ying Chen, Kai-Ying He, Dan‐dan Ruan, Juan Zhu, Qian Chen, Jian-Hui Zhang, Li Zhang et al. · 2025 · Experimental and Therapeutic Medicine
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- Unraveling the genetic basis of MODY: insights from next-generation sequencingMetin Eser, Gulam Hekimoğlu, Fatma Dursun · 2024 · Journal of Applied Genetics
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- Maturity-Onset Diabetes of the Young (MODY) in a Racially/Ethnically Diverse Pediatric PopulationShilpi Relan, Guido Alarcon, Danielle Guffey, Charles Gene Minard, Mary Emily Fang, Kelly Timmons, Rona Sonabend, Mustafa Tosur, MARIA JOSE REDONDO, Jennifer Ellen Posey · 2025 · The Journal of Clinical Endocrinology & Metabolism
- Association of Vitamin D Receptor Gene Polymorphisms With the Evolution of MODY Diabetes: Study in Tunisian PatientsAmal Guesmi, Manel Zouaoui, Emna Haouat, Sabrine Oueslati, Malek Dabboussi, Chaima Kasmi, Rahma Mahjoub, Inès Kammoun, Amina Bibi · 2021 · Biological Research For Nursing
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- A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndromeJianyu Wang, Chunhua Wang, Yujie Chen, Shuang Qi, Min Wang · 2025 · Frontiers in Endocrinology
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- Le diabète de type MODY : quand l’évoquer chez l’enfant ?Clara Leroy, Iva Gueorguieva · 2020 · Médecine des Maladies Métaboliques
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- Diagnosis of hepatic nuclear factor 1A monogenic diabetes mellitus (HNF1A-MODY) impacts antihyperglycemic treatmentWolfgang Johann Schnedl, Sandra Johanna Holasek, Michael Schenk, Dietmar Enko, Harald Mangge · 2020 · Wiener klinische Wochenschrift
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- Challenges and Advances in SLE Autoantibody Detection and InterpretationMay Y. Choi, Marvin J. Fritzler · 2021 · Springer eBooks
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- Tests aiding diagnosis of monogenic diabetesMaggie H. Shepherd, Kevin Colclough, Timothy James McDonald · 2017 · Practical Diabetes