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Journal Articles

Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.

Lewis Pang, Kevin C. Colclough, Maggie H. Shepherd, Joanne McLean, Ewan R. Pearson, Sian Ellard, Andrew T. Hattersley, Beverley M. Shields
Journal: Diabetes Care
Diabetes Care 2022;45(3):642–649
https://doi.org/10.2337/dc21-2056
Published: 21 January 2022
View article titled, Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.
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Journal Articles

Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes

Pamela Bowman, Frances Mathews, Fabrizio Barbetti, Maggie H. Shepherd, Janine Sanchez, Barbara Piccini, Jacques Beltrand, Lisa R. Letourneau-Freiberg, Michel Polak, Siri Atma W. Greeley, Eamon Rawlins, Tarig Babiker, Nicholas J. Thomas, Elisa De Franco, Sian Ellard, Sarah E. Flanagan, Andrew T. Hattersley, Neonatal Diabetes International Collaborative Group, Fauzia Mohsin, Elizabeth Cummings, Laurent LeGault, Zubin Punthakee, John Van Der Meulen, Ethel Codner, Vivian Gallardo, Meena Rafiq, Jayne Houghton, Kashyap Amratlal Patel, Tamsin Ford, Janani Kumaraguru Pillai, Roisin Finn, Ali Chakera, Klemens Raile, Martin Schebek, Andrea Werner, Vandana Jain, Emmeline Heffernan, Brunella Iovane, Lucia Russo, Bastiaan De Galan, Paul Voorhoeve, Pal Njolstad, Asta Sulen, Adriana Dankovcikova, Daniela Gasperikova, Juraj Stanik, Banu Aydin, Firdevs Bas, Ruveyde Bundak, Feyza Darendeliler, Stanca Raceala-Motoc, Juan C. Sanchez, Katherine E. Bauer, Kara W. Greeley
Journal: Diabetes Care
Diabetes Care 2021;44(1):35–42
https://doi.org/10.2337/dc20-1520
Published: 12 November 2020
View article titled, Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated <em>ABCC8</em> Permanent Neonatal Diabetes
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Journal Articles

Response to Comment on Misra et al. Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909–912

Shivani Misra, Neelam Hassanali, Amanda J. Bennett, Agata Juszczak, Richard Caswell, Kevin Colclough, Jonathan Valabhji, Sian Ellard, Nicholas S. Oliver, Anna L. Gloyn
Journal: Diabetes Care
Diabetes Care 2020;43(10):e155–e156
https://doi.org/10.2337/dci20-0033
Published: 11 September 2020
View article titled, Response to Comment on Misra et al. Homozygous Hypomorphic <em>HNF1A</em> Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909–912
Open the PDF for Response to Comment on Misra et al. Homozygous Hypomorphic <em>HNF1A</em> Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909–912 in another window
Journal Articles

Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes

Shivani Misra, Neelam Hassanali, Amanda J. Bennett, Agata Juszczak, Richard Caswell, Kevin Colclough, Jonathan Valabhji, Sian Ellard, Nicholas S. Oliver, Anna L. Gloyn
Journal: Diabetes Care
Diabetes Care 2020;43(4):909–912
https://doi.org/10.2337/dc19-1843
Published: 30 January 2020
View article titled, Homozygous Hypomorphic <em>HNF1A</em> Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes
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Includes: Supplementary data
Journal Articles

Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study

Annelie Carlsson, Maggie Shepherd, Sian Ellard, Michael Weedon, Åke Lernmark, Gun Forsander, Kevin Colclough, Qefsere Brahimi, Camilla Valtonen-Andre, Sten A. Ivarsson, Helena Elding Larsson, Ulf Samuelsson, Eva Örtqvist, Leif Groop, Johnny Ludvigsson, Claude Marcus, Andrew T. Hattersley
Journal: Diabetes Care
Diabetes Care 2020;43(1):82–89
https://doi.org/10.2337/dc19-0747
Published: 12 December 2019
View article titled, Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study
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Includes: Supplementary data
Journal Articles

Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects. Diabetes Care 2017;40:1436–1443

Rhian L. Clissold, Lorna W. Harries, Sian Ellard, Coralie Bingham, Andrew T. Hattersley
Journal: Diabetes Care
Diabetes Care 2018;41(1):e7
https://doi.org/10.2337/dc17-1672
Published: 11 December 2017
View article titled, Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (<em>HNF1B</em>) Molecular Defects. Diabetes Care 2017;40:1436–1443
Open the PDF for Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (<em>HNF1B</em>) Molecular Defects. Diabetes Care 2017;40:1436–1443 in another window
Journal Articles

Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients

Beverley M. Shields, Maggie Shepherd, Michelle Hudson, Timothy J. McDonald, Kevin Colclough, Jaime Peters, Bridget Knight, Chris Hyde, Sian Ellard, Ewan R. Pearson, Andrew T. Hattersley
Journal: Diabetes Care
Diabetes Care 2017;40(8):1017–1025
https://doi.org/10.2337/dc17-0224
Published: 11 July 2017
View article titled, Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients
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Includes: Supplementary data
Journal Articles

Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes

Maggie Shepherd, Beverley Shields, Suzanne Hammersley, Michelle Hudson, Timothy J. McDonald, Kevin Colclough, Richard A. Oram, Bridget Knight, Christopher Hyde, Julian Cox, Katherine Mallam, Christopher Moudiotis, Rebecca Smith, Barbara Fraser, Simon Robertson, Stephen Greene, Sian Ellard, Ewan R. Pearson, Andrew T. Hattersley
Journal: Diabetes Care
Diabetes Care 2016;39(11):1879–1888
https://doi.org/10.2337/dc16-0645
Published: 06 June 2016
View article titled, 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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Journal Articles

Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation

Ali J. Chakera, Anna M. Steele, Anna L. Gloyn, Maggie H. Shepherd, Beverley Shields, Sian Ellard, Andrew T. Hattersley
Journal: Diabetes Care
Diabetes Care 2015;38(7):1383–1392
https://doi.org/10.2337/dc14-2769
Published: 11 June 2015
View article titled, Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation
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Journal Articles

The 0.1% of the Population With Glucokinase Monogenic Diabetes Can Be Recognized by Clinical Characteristics in Pregnancy: The Atlantic Diabetes in Pregnancy Cohort

Ali J. Chakera, Gill Spyer, Nicola Vincent, Sian Ellard, Andrew T. Hattersley, Fidelma P. Dunne
Journal: Diabetes Care
Diabetes Care 2014;37(5):1230–1236
https://doi.org/10.2337/dc13-2248
Published: 10 April 2014
View article titled, The 0.1% of the Population With Glucokinase Monogenic Diabetes Can Be Recognized by Clinical Characteristics in Pregnancy: The Atlantic Diabetes in Pregnancy Cohort
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Includes: Supplementary data
Journal Articles

Comment on: Khurana et al. The Diagnosis of Neonatal Diabetes in a Mother at 25 Years of Age. Diabetes Care 2012;35:e59

Ali J. Chakera, MBCHB, Sarah E. Flanagan, PHD, Sian Ellard, PHD, Andrew T. Hattersley, DM
Journal: Diabetes Care
Diabetes Care 2013;36(2):e31
https://doi.org/10.2337/dc12-1750
Published: 17 January 2013
View article titled, Comment on: Khurana et al. The Diagnosis of Neonatal Diabetes in a Mother at 25 Years of Age. Diabetes Care 2012;35:e59
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Journal Articles

Antenatal Diagnosis of Fetal Genotype Determines if Maternal Hyperglycemia Due to a Glucokinase Mutation Requires Treatment

Ali J. Chakera, MBCHB, Victoria L. Carleton, MBBS, Sian Ellard, PHD, Jencia Wong, PHD, Dennis K. Yue, PHD, Jason Pinner, MBBS, Andrew T. Hattersley, DM, Glynis P. Ross, MBBS
Journal: Diabetes Care
Diabetes Care 2012;35(9):1832–1834
https://doi.org/10.2337/dc12-0151
Published: 14 August 2012
View article titled, Antenatal Diagnosis of Fetal Genotype Determines if Maternal Hyperglycemia Due to a Glucokinase Mutation Requires Treatment
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Journal Articles

Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis

Nicola L. Beer, DPHIL, Kara K. Osbak, MSC, Martijn van de Bunt, MD, Nicholas D. Tribble, PHD, Anna M. Steele, MSC, Kirsty J. Wensley, PGCERT, Emma L. Edghill, PHD, Kevin Colcough, BSC, Amy Barrett, BSC, Lucia Valentínová, MSC, Jana K. Rundle, PHD, Anne Raimondo, PHD, Joseph Grimsby, PHD, Sian Ellard, PHD, Anna L. Gloyn, DPHIL
Journal: Diabetes Care
Diabetes Care 2012;35(7):1482–1484
https://doi.org/10.2337/dc11-2420
Published: 12 June 2012
View article titled, Insights Into the Pathogenicity of Rare Missense <em>GCK</em> Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in <em>Cis</em>
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Includes: Supplementary data
Journal Articles

Systematic Assessment of Etiology in Adults With a Clinical Diagnosis of Young-Onset Type 2 Diabetes Is a Successful Strategy for Identifying Maturity-Onset Diabetes of the Young

Gaya Thanabalasingham, BM, Aparna Pal, BM, Mary P. Selwood, MSC, Christina Dudley, RGN, Karen Fisher, Polly J. Bingley, MD, Sian Ellard, PHD, Andrew J. Farmer, DM, Mark I. McCarthy, MD, Katharine R. Owen, MD
Journal: Diabetes Care
Diabetes Care 2012;35(6):1206–1212
https://doi.org/10.2337/dc11-1243
Published: 11 May 2012
View article titled, Systematic Assessment of Etiology in Adults With a Clinical Diagnosis of Young-Onset Type 2 Diabetes Is a Successful Strategy for Identifying Maturity-Onset Diabetes of the Young
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Includes: Supplementary data
Journal Articles

High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes

Tim J. McDonald, MSC, Beverley M. Shields, PHD, Jane Lawry, BSC, Katharine R. Owen, MD, Anna L. Gloyn, DPHIL, Sian Ellard, PHD, Andrew T. Hattersley, DM
Journal: Diabetes Care
Diabetes Care 2011;34(8):1860–1862
https://doi.org/10.2337/dc11-0323
Published: 16 July 2011
View article titled, High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes
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Includes: Supplementary data
Journal Articles

Urinary C-Peptide Creatinine Ratio Is a Practical Outpatient Tool for Identifying Hepatocyte Nuclear Factor 1-α/Hepatocyte Nuclear Factor 4-α Maturity-Onset Diabetes of the Young From Long-Duration Type 1 Diabetes

Rachel E.J. Besser, MBBS, Maggie H. Shepherd, PHD, Timothy J. McDonald, MSC, Beverley M. Shields, PHD, Bridget A. Knight, PHD, Sian Ellard, PHD, Andrew T. Hattersley, DM
Journal: Diabetes Care
Diabetes Care 2011;34(2):286–291
https://doi.org/10.2337/dc10-1293
Published: 20 January 2011
View article titled, Urinary C-Peptide Creatinine Ratio Is a Practical Outpatient Tool for Identifying Hepatocyte Nuclear Factor 1-α/Hepatocyte Nuclear Factor 4-α Maturity-Onset Diabetes of the Young From Long-Duration Type 1 Diabetes
Open the PDF for Urinary C-Peptide Creatinine Ratio Is a Practical Outpatient Tool for Identifying Hepatocyte Nuclear Factor 1-α/Hepatocyte Nuclear Factor 4-α Maturity-Onset Diabetes of the Young From Long-Duration Type 1 Diabetes in another window
Includes: Supplementary data
Journal Articles

Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

Oscar Rubio-Cabezas, MD, Jayne A.L. Minton, PHD, Richard Caswell, PHD, Julian P. Shield, MD, Dorothee Deiss, MD, Zdenek Sumnik, MD, PHD, Amely Cayssials, MD, Mathias Herr, MD, Anja Loew, MD, Vaughan Lewis, MD, Sian Ellard, PHD, MRCPATH, Andrew T. Hattersley, DM, FRCP
Journal: Diabetes Care
Diabetes Care 2009;32(1):111–116
https://doi.org/10.2337/dc08-1188
Published: 01 January 2009
View article titled, Clinical Heterogeneity in Patients With <em>FOXP3</em> Mutations Presenting With Permanent Neonatal Diabetes
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Journal Articles

Coincidence of a Novel KCNJ11 Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes

Juraj Staník, MD, Mark Lethby, Sarah E. Flanagan, PHD, Daniela Gašperíková, PHD, Beata Milošovičová, MD, Margaret Lever, Hilary Bullman, Lejla Zubcevic, Andrew T. Hattersley, MD, FRCP, Sian Ellard, PHD, MRCPATH, Frances M. Ashcroft, DSC, PHD, Iwar Klimeš, MD, DSC
Journal: Diabetes Care
Diabetes Care 2008;31(9):1736–1737
https://doi.org/10.2337/dc08-0549
Published: 01 September 2008
View article titled, Coincidence of a Novel <em>KCNJ11</em> Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes
Open the PDF for Coincidence of a Novel <em>KCNJ11</em> Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes in another window
Journal Articles

Mutations in the Glucokinase Gene of the Fetus Result in Reduced Placental Weight

Beverley M. Shields, PHD, Gill Spyer, MD, MRCP, Annabelle S. Slingerland, MD, MPH, Bridget A. Knight, PHD, Sian Ellard, PHD, MRCPATH, Penelope M. Clark, PHD, FRCPATH, Sylvie Hauguel-de Mouzon, PHD, Andrew T. Hattersley, DM, FRCP
Journal: Diabetes Care
Diabetes Care 2008;31(4):753–757
https://doi.org/10.2337/dc07-1750
Published: 01 April 2008
View article titled, Mutations in the Glucokinase Gene of the Fetus Result in Reduced Placental Weight
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Journal Articles

Effective Treatment With Oral Sulfonylureas in Patients With Diabetes Due to Sulfonylurea Receptor 1 (SUR1) Mutations

Meena Rafiq, Sarah E. Flanagan, BSC, Ann-Marie Patch, PHD, Beverley M. Shields, PHD, Sian Ellard, PHD, MRCPATH, Andrew T. Hattersley, FRCP, DM, The Neonatal Diabetes International Collaborative Group
Journal: Diabetes Care
Diabetes Care 2008;31(2):204–209
https://doi.org/10.2337/dc07-1785
Published: 01 February 2008
View article titled, Effective Treatment With Oral Sulfonylureas in Patients With Diabetes Due to Sulfonylurea Receptor 1 (SUR1) Mutations
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