نتائج البحث - Kevin Colclough
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Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia حسب Kevin Colclough, Christine Bellanné‐Chantelot, Cécile Saint‐Martin, Sarah E. Flanagan, Sian Ellard
منشور في 2013Artigo -
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Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia حسب Amanda Stride, Beverley M. Shields, Olivia Gill-Carey, Ali Chakera, Kevin Colclough, Sian Ellard, Andrew T. Hattersley
منشور في 2013Artigo -
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South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people حسب Shivani Misra, Beverley M. Shields, Kevin Colclough, Desmond G. Johnston, Nick Oliver, Sian Ellard, Andrew T. Hattersley
منشور في 2016Carta -
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Update on mutations in glucokinase (<i>GCK</i>), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia حسب Kara Osbak, Kevin Colclough, Cécile Saint‐Martin, Nicola L. Beer, Christine Bellanné‐Chantelot, Sian Ellard, Anna L. Gloyn
منشور في 2009Revisão -
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Use of HbA1c in the Identification of Patients with Hyperglycaemia Caused by a Glucokinase Mutation: Observational Case Control Studies حسب Anna Steele, Kirsty J. Wensley, Sian Ellard, Rinki Murphy, Maggie Shepherd, Kevin Colclough, Andrew T. Hattersley, Beverley M. Shields
منشور في 2013Artigo -
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Persistent Hyperinsulinemic Hypoglycemia and Maturity-Onset Diabetes of the Young Due to Heterozygous <i>HNF4A</i> Mutations حسب Ritika R. Kapoor, Jonathan M. Locke, Kevin Colclough, J K Wales, Jennifer Conn, Andrew T. Hattersley, Sian Ellard, Khalid Hussain
منشور في 2008Artigo -
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Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K. حسب Lewis Pang, Kevin Colclough, Maggie Shepherd, Joanne McLean, Ewan R. Pearson, Sian Ellard, Andrew T. Hattersley, Beverley M. Shields
منشور في 2022Artigo -
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Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes حسب Kashyap Patel, Richard A. Oram, Sarah E. Flanagan, Elisa De Franco, Kevin Colclough, Maggie Shepherd, Sian Ellard, Michael N. Weedon, Andrew T. Hattersley
منشور في 2016Artigo -
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HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood حسب Shazia Adalat, Wesley Hayes, William Bryant, John Booth, Adrian S. Woolf, Robert Kleta, Sandra Subtil, Rhian Clissold, Kevin Colclough, Sian Ellard, Detlef Böckenhauer
منشور في 2019Artigo -
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Evaluation of Evidence for Pathogenicity Demonstrates That <i>BLK</i>, <i>KLF11</i>, and <i>PAX4</i> Should Not Be Included in Diagnostic Testing for MODY حسب Thomas W. Laver, Matthew N. Wakeling, Olivia Knox, Kevin Colclough, Caroline F. Wright, Sian Ellard, Andrew T. Hattersley, Michael N. Weedon, Kashyap Patel
منشور في 2022Artigo -
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A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes حسب Peter Proks, Amanda L. Arnold, Jan Bruining, Christophe A. Girard, Sarah E. Flanagan, Brian Larkin, Kevin Colclough, Andrew T. Hattersley, Frances M. Ashcroft, Sian Ellard
منشور في 2006Artigo -
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Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) حسب Sahar Elouej, Ana Beleza‐Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean-Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre‐Giovannoli
منشور في 2017Artigo -
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Characteristics of maturity onset diabetes of the young in a large diabetes center حسب Christina Chambers, Alexandra Fouts, Fran Dong, Kevin Colclough, Zhenyuan Wang, Sat Dev Batish, Malgorzata Jaremko, Sian Ellard, Andrew T. Hattersley, Georgeanna J. Klingensmith, Andrea K. Steck
منشور في 2015Artigo -
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Improved genetic testing for monogenic diabetes using targeted next-generation sequencing حسب Sian Ellard, Hana Lango Allen, Elisa De Franco, Sarah E. Flanagan, Gerald Hysenaj, Kevin Colclough, Jayne Houghton, Maggie Shepherd, Andrew T. Hattersley, Michael N. Weedon, Richard Caswell
منشور في 2013Artigo
أدوات البحث:
موضوعات ذات صلة
Medicine
Internal medicine
Endocrinology
Biology
Diabetes mellitus
Genetics
Gene
Type 2 diabetes
Mutation
HNF1A
Maturity onset diabetes of the young
Insulin
Type 1 diabetes
Genetic testing
MEDLINE
Environmental health
Gastroenterology
Glucokinase
Intensive care medicine
Law
Phenotype
Political science
Population
Cohort
Disease
Gestation
Gestational diabetes
Pregnancy
Antibody
Autoantibody