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Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

Genetics in medicine, 2021-12, Vol.23 (12), p.2433-2442

2021

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Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

The journal of clinical endocrinology and metabolism, 2005-03, Vol.90 (3), p.1849-1855

2005

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An Activating Mutation of AKT2 and Human Hypoglycemia

Science (American Association for the Advancement of Science), 2011-10, Vol.334 (6055), p.474-474

2011

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Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action

International Journal of Obesity, 2010-10, Vol.34 (10), p.1554-1558

2010

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Treatment of Type B Insulin Resistance: A Novel Approach to Reduce Insulin Receptor Autoantibodies

The journal of clinical endocrinology and metabolism, 2010-08, Vol.95 (8), p.3641-3647

2010

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Expression of the thermogenic nuclear hormone receptor coactivator PGC-1α is reduced in the adipose tissue of morbidly obese subjects

International Journal of Obesity, 2004-01, Vol.28 (1), p.176-179

2004

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Mechanistic insights into insulin resistance in the genetic era

Diabetic medicine, 2011-12, Vol.28 (12), p.1476-1486

2011

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Growth and hormone profiling in children with congenital melanocytic naevi

British journal of dermatology (1951), 2015-12, Vol.173 (6), p.1471-1478

2015

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Elevated Plasma Adiponectin in Humans with Genetically Defective Insulin Receptors

The journal of clinical endocrinology and metabolism, 2006-08, Vol.91 (8), p.3219-3223

2006

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Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation

Diabetic medicine, 2016-03, Vol.33 (3), p.e8-e12

2016

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The Effects of Neurokinin B upon Gonadotrophin Release in Male Rodents

Journal of neuroendocrinology, 2010-03, Vol.22 (3), p.181-187

2010

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Severe insulin resistance due to anti‐insulin antibodies: response to plasma exchange and immunosuppressive therapy

Diabetic medicine, 2009-01, Vol.26 (1), p.79-82

2009

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755 Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Journal of investigative dermatology, 2018-05, Vol.138 (5), p.S128-S128

2018

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Interstitial Lung Disease in Children Made Easier…Well, Almost

Radiographics, 2017-10, Vol.37 (6), p.1679-1703

2017

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Novel mutation in insulin receptor gene identified after muscle biopsy in a Niuean woman with severe insulin resistance

Diabetic medicine, 2015-10, Vol.32 (10), p.e24-e28

2015

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Adiponectin and leptin in human severe insulin resistance – Diagnostic utility and biological insights

Biochimie, 2012-10, Vol.94 (10), p.2172-2179

2012

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Prevalence of Thrombotic Complications in ICU-Treated Patients With Coronavirus Disease 2019 Detected With Systematic CT Scanning

Critical care medicine, 2021-05, Vol.49 (5), p.804-815

2021

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Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin

European journal of endocrinology, 2008-09, Vol.159 (3), p.347-353

2008

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Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome

Clinical and experimental dermatology, 2017-10, Vol.42 (7), p.763-766

2017

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Assessment of myocardial fibrosis with T1 mapping MRI

Clinical radiology, 2016-08, Vol.71 (8), p.768-778

2016

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A novel device for improving marker placement accuracy

Gait & posture, 2010-10, Vol.32 (4), p.536-539

2010

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Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome

Clinical endocrinology (Oxford), 2007-01, Vol.66 (1), p.21-26

2007

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Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling

Diabetologia, 2011-05, Vol.54 (5), p.1057-1065

2011

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Intracardiac shunt assessment using CT coronary angiography

Journal of cardiovascular computed tomography, 2023-11, Vol.17 (6), p.436-444

2023

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EJE PRIZE 2015: How does insulin resistance arise, and how does it cause disease? Human genetic lessons

European journal of endocrinology, 2016-05, Vol.174 (5), p.R209-R223

Semple, R K

2016

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Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism

An Activating Mutation of AKT2 and Human Hypoglycemia

Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action

Treatment of Type B Insulin Resistance: A Novel Approach to Reduce Insulin Receptor Autoantibodies

Expression of the thermogenic nuclear hormone receptor coactivator PGC-1α is reduced in the adipose tissue of morbidly obese subjects

Mechanistic insights into insulin resistance in the genetic era

Growth and hormone profiling in children with congenital melanocytic naevi

Elevated Plasma Adiponectin in Humans with Genetically Defective Insulin Receptors

Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation

The Effects of Neurokinin B upon Gonadotrophin Release in Male Rodents

Severe insulin resistance due to anti‐insulin antibodies: response to plasma exchange and immunosuppressive therapy

755 Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Interstitial Lung Disease in Children Made Easier…Well, Almost

Novel mutation in insulin receptor gene identified after muscle biopsy in a Niuean woman with severe insulin resistance

Adiponectin and leptin in human severe insulin resistance – Diagnostic utility and biological insights

Prevalence of Thrombotic Complications in ICU-Treated Patients With Coronavirus Disease 2019 Detected With Systematic CT Scanning

Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin

Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome

Assessment of myocardial fibrosis with T1 mapping MRI

A novel device for improving marker placement accuracy

Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome

Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling

Intracardiac shunt assessment using CT coronary angiography

EJE PRIZE 2015: How does insulin resistance arise, and how does it cause disease? Human genetic lessons

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