Search Results - Kevin Colclough

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  1. 1

    Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case report by Jean Claude Katte, Mesmin Y. Dehayem, Kevin Colclough, Eugene Sobngwi

    Published in Journal of Medical Case Reports (2024-10-01)
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  2. 2

    Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases by Zeynep Şıklar, Tuğba Kontbay, Kevin Colclough, Kashyap A. Patel, Merih Berberoğlu

    Published in JCRPE (2023-03-01)
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  3. 3

    Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand by Francesca Harrington, Mark Greenslade, Kevin Colclough, Ryan Paul, Craig Jefferies, Craig Jefferies, Rinki Murphy

    Published in Frontiers in Endocrinology (2023-03-01)
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  4. 4

    Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys) by Emma L Prehn, Mairéad Crowley, David Fennell, Brendan T Kinsley, Kevin Colclough, Maria M Byrne

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  5. 5

    Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. by Anna M Steele, Kirsty J Wensley, Sian Ellard, Rinki Murphy, Maggie Shepherd, Kevin Colclough, Andrew T Hattersley, Beverley M Shields

    Published in PLoS ONE (2013-01-01)
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  6. 6

    Heterozygous Insulin Receptor <italic>(INSR)</italic> Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series by Aashish Sethi, Nicola Foulds, Sarah Ehtisham, Syed Haris Ahmed, Jayne Houghton, Kevin Colclough, Mohammed Didi, Sarah E. Flanagan, Senthil Senniappan

    Published in JCRPE (2020-12-01)
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  7. 7

    Accurate and cost-effective generation of a genetic risk score direct from blood lysates by Jonathan M. Locke, Benjamin Spurrier, Thomas W. Laver, Jayne A.L. Houghton, Kevin Colclough, Michael N. Weedon, Richard A. Oram

    Published in Journal of Translational Medicine (2024-12-01)
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  8. 8

    Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risksResearch in context by Luke N. Sharp, Kevin Colclough, Jacques Murray Leech, Amy V. Evans, Andrew T. Hattersley, Michael N. Weedon, Rebecca J. Brown, Kashyap A. Patel

    Published in EBioMedicine (2026-05-01)
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  9. 9

    Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis by Beverley M. Shields, Annelie Carlsson, Kashyap Patel, Julieanne Knupp, Akaal Kaur, Des Johnston, Kevin Colclough, Helena Elding Larsson, Gun Forsander, Ulf Samuelsson, Andrew Hattersley, Johnny Ludvigsson

    Published in Scientific Reports (2024-05-01)
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  10. 10

    Molecular mechanism of HNF-1A–mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes by Laura Kind, Janne Molnes, Erling Tjora, Arne Raasakka, Matti Myllykoski, Kevin Colclough, Cécile Saint-Martin, Caroline Adelfalk, Petra Dusatkova, Stepanka Pruhova, Camilla Valtonen-André, Christine Bellanné-Chantelot, Thomas Arnesen, Petri Kursula, Pål Rasmus Njølstad

    Published in JCI Insight (2024-06-01)
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  11. 11

    Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance by Kashyap A. Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W. Laver, Kevin Colclough, Matthew B. Johnson, Marc Abramowicz, Leif Groop, Päivi J. Miettinen, Maggie H. Shepherd, Sarah E. Flanagan, Sian Ellard, Nobuya Inagaki, Andrew T. Hattersley, Tiinamaija Tuomi, Miriam Cnop, Michael N. Weedon

    Published in Nature Communications (2017-10-01)
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  12. 12

    The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion by Rinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Ikle, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint-Martin, Janne Molnes, ADA/EASD PMDI, Shivani Misra, Ingvild Aukrust, Elisa de Franco, Sarah E. Flanagan, Pål R. Njølstad, Liana K. Billings, Katharine R. Owen, Anna L. Gloyn

    Published in Communications Medicine (2023-10-01)
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