Rare genetic causes of obesity: Diagnosis and management in clinical care

Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction

(2021) Maithé Tauber et al.   Lancet Diabetes & Endocrinology

Hypothalamic neuropeptides and neurocircuitries in Prader Willi syndrome

(2021) Felipe Correa da‐Silva et al.   JOURNAL OF NEUROENDOCRINOLOGY

Genetics of Obesity: What We Have Learned Over Decades of Research

(2021) Claude Bouchard   Obesity

Long-term outcome of bariatric surgery in patients with bi-allelic mutations in the POMC, LEPR and MC4R gene

(2021) Christine Poitou et al.   Surgery for Obesity and Related Diseases

Transition readiness among adolescents with rare endocrine conditions

(2021) Lisette van Alewijk et al.   Endocrine Connections

Growth hormone treatment for adults with Prader-Willi syndrome: a meta-analysis

(2021) Anna G W Rosenberg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Implication of Heterozygous Variants in Genes of the Leptin–Melanocortin Pathway in Severe Obesity

(2021) Sophie Courbage et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome

(2021) Karlijn Pellikaan et al.   Journal of Clinical Medicine

Thyroid Function in Adults with Prader–Willi Syndrome; a Cohort Study and Literature Review

(2021) Karlijn Pellikaan et al.   Journal of Clinical Medicine

Hyperprolactinemia in Adults with Prader-Willi Syndrome

(2021) Anna Sjöström et al.   Journal of Clinical Medicine

What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’

(2021) Anna G. W. Rosenberg et al.   Journal of Clinical Medicine

Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion

(2021) Karlijn Pellikaan et al.   Journal of Clinical Medicine

Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics

(2020) Ayça Aykut et al.   EUROPEAN JOURNAL OF PEDIATRICS

Central Adrenal Insufficiency Is Rare in Adults With Prader–Willi Syndrome

(2020) Anna G W Rosenberg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders

(2020) Niels Vos et al.   Current Diabetes Reports

The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population

(2020) Nathalie Chami et al.   PLOS MEDICINE

What can we learn from PWS and SNORD116 genes about the pathophysiology of addictive disorders?

(2020) Juliette Salles et al.   MOLECULAR PSYCHIATRY

Rare genetic forms of obesity: From gene to therapy

(2020) K Clément et al.   PHYSIOLOGY & BEHAVIOR

Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials

(2020) Karine Clément et al.   Lancet Diabetes & Endocrinology

Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics

(2019) Lotte Kleinendorst et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity

(2019) M.I. Cooiman et al.   OBESITY SURGERY

Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency

(2018) Katja Kohlsdorf et al.   INTERNATIONAL JOURNAL OF OBESITY

Impact of transitional care on endocrine and anthropometric parameters in Prader–Willi syndrome

(2018) A C Paepegaey et al.   Endocrine Connections

A systematic review of genetic syndromes with obesity

(2017) Y. Kaur et al.   Obesity Reviews

Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study

(2016) Amélie Bonnefond et al.   DIABETES CARE

PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders

(2016) Pieter Stijnen et al.   ENDOCRINE REVIEWS

Loss of Magel2 impairs the development of hypothalamic Anorexigenic circuits

(2016) Julien Maillard et al.   HUMAN MOLECULAR GENETICS

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

(2016) Lisa C. Burnett et al.   JOURNAL OF CLINICAL INVESTIGATION

The Hunger Genes: Pathways to Obesity

(2015) Agatha A. van der Klaauw et al.   CELL

Syndrome de Bardet-Biedl : cils et obésité

(2014) Kirsley Chennen et al.   M S-MEDECINE SCIENCES

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

(2013) Graeme R. Frank et al.   MOLECULAR GENETICS AND METABOLISM

Pregnancy in a Woman with a Leptin-Receptor Mutation

(2012) Jacky Nizard et al.   NEW ENGLAND JOURNAL OF MEDICINE

Melanocortin-4 Receptor Mutations and Polymorphisms Do Not Affect Weight Loss after Bariatric Surgery

(2012) Marion Valette et al.   PLoS One

Critical Analysis of Bariatric Procedures in Prader-Willi Syndrome

(2009) AO Scheimann et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Unexpected Endocrine Features and Normal Pigmentation in a Young Adult Patient Carrying a Novel Homozygous Mutation in the POMC Gene

(2008) Karine Clément et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM