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Authors: Stephen O’Rahilly
Journal Article
Effects of Rare Coding Variants in Severe Early-Onset Obesity Genes in the Population-Based UK Biobank Study
The Journal of Clinical Endocrinology & Metabolism, dgaf132, https://doi.org/10.1210/clinem/dgaf132
Published: 28 February 2025
Journal Article
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty
The Journal of Clinical Endocrinology & Metabolism, Volume 108, Issue 12, December 2023, Pages e1580–e1587, https://doi.org/10.1210/clinem/dgad373
Published: 20 June 2023
Journal Article
Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution
The Journal of Clinical Endocrinology & Metabolism, Volume 107, Issue 4, April 2022, Pages 1065–1077, https://doi.org/10.1210/clinem/dgab877
Published: 07 December 2021
Journal Article
Ovarian Hyperandrogenism and Response to Gonadotropin-releasing Hormone Analogues in Primary Severe Insulin Resistance
The Journal of Clinical Endocrinology & Metabolism, Volume 106, Issue 8, August 2021, Pages 2367–2383, https://doi.org/10.1210/clinem/dgab275
Published: 26 April 2021
Journal Article
Leptin-Mediated Changes in the Human Metabolome
The Journal of Clinical Endocrinology & Metabolism, Volume 105, Issue 8, August 2020, Pages 2541–2552, https://doi.org/10.1210/clinem/dgaa251
Published: 11 May 2020
Journal Article
GDF15 Is Elevated in Conditions of Glucocorticoid Deficiency and Is Modulated by Glucocorticoid Replacement
The Journal of Clinical Endocrinology & Metabolism, Volume 105, Issue 5, May 2020, Pages 1427–1434, https://doi.org/10.1210/clinem/dgz277
Published: 19 December 2019
Journal Article
Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty
The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 2, February 2018, Pages 649–659, https://doi.org/10.1210/jc.2017-02147
Published: 16 November 2017
Journal Article
EDITOR'S CHOICE
Roux-en-Y Gastric Bypass Surgery in the Management of Familial Partial Lipodystrophy Type 1
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 10, 1 October 2017, Pages 3616–3620, https://doi.org/10.1210/jc.2017-01235
Published: 26 July 2017
Journal Article
Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 8, 1 August 2017, Pages 2914–2921, https://doi.org/10.1210/jc.2017-00768
Published: 23 May 2017
Journal Article
Obesity-Associated Melanocortin-4 Receptor Mutations Are Associated With Changes in the Brain Response to Food Cues
The Journal of Clinical Endocrinology & Metabolism, Volume 99, Issue 10, 1 October 2014, Pages E2101–E2106, https://doi.org/10.1210/jc.2014-1651
Published: 01 October 2014
Journal Article
Mitochondrial Oxidative Phosphorylation Is Impaired in Patients with Congenital Lipodystrophy
The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 3, 1 March 2012, Pages E438–E442, https://doi.org/10.1210/jc.2011-2587
Published: 01 March 2012
Journal Article
Obesity due to Melanocortin 4 Receptor (MC4R) Deficiency Is Associated with Increased Linear Growth and Final Height, Fasting Hyperinsulinemia, and Incompletely Suppressed Growth Hormone Secretion Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 1, 1 January 2011, Pages E181–E188, https://doi.org/10.1210/jc.2010-1369
Published: 01 January 2011
Journal Article
Treatment with Recombinant Human Insulin-Like Growth Factor (rhIGF)-I/rhIGF Binding Protein-3 Complex Improves Metabolic Control in Subjects with Severe Insulin Resistance Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 5, 1 May 2010, Pages 2113–2122, https://doi.org/10.1210/jc.2009-2088
Published: 01 May 2010
Journal Article
Hypogonadotropic Hypogonadism due to a Novel Missense Mutation in the First Extracellular Loop of the Neurokinin B Receptor Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 94, Issue 10, 1 October 2009, Pages 3633–3639, https://doi.org/10.1210/jc.2009-0551
Published: 01 October 2009
Journal Article
Complement Abnormalities in Acquired Lipodystrophy Revisited Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 94, Issue 1, 1 January 2009, Pages 10–16, https://doi.org/10.1210/jc.2008-1703
Published: 01 January 2009
Journal Article
Mutations in the Amino-Terminal Region of Proopiomelanocortin (POMC) in Patients with Early-Onset Obesity Impair POMC Sorting to the Regulated Secretory Pathway Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 11, 1 November 2008, Pages 4494–4499, https://doi.org/10.1210/jc.2008-0954
Published: 01 November 2008
Journal Article
Fatty Acid Metabolism in Patients with PPARγ Mutations Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 11, 1 November 2008, Pages 4462–4470, https://doi.org/10.1210/jc.2007-2356
Published: 01 November 2008
Journal Article
Obesity Associated Genetic Variation in FTO Is Associated with Diminished Satiety Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 9, 1 September 2008, Pages 3640–3643, https://doi.org/10.1210/jc.2008-0472
Published: 01 September 2008
Journal Article
Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 4, 1 April 2008, Pages 1129–1134, https://doi.org/10.1210/jc.2007-1328
Published: 01 April 2008
Journal Article
Hyperphagia and Early-Onset Obesity due to a Novel Homozygous Missense Mutation in Prohormone Convertase 1/3 Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 92, Issue 9, 1 September 2007, Pages 3369–3373, https://doi.org/10.1210/jc.2007-0687
Published: 01 September 2007
