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Leptin and leptin receptor-related monogenic obesity

Biochimie, 2012-10, Vol.94 (10), p.2111-2115

2012

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Novel therapeutics in rare genetic obesities: A narrative review

Pharmacological research, 2023-05, Vol.191, p.106763-106763, Article 106763

2023

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IBD‐Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome

Journal of pediatric gastroenterology and nutrition, 2017-01, Vol.64 (1), p.37-41

2017

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Elexacaftor/tezacaftor/ivacaftor can rescue pancreatic function in F508del homozygous children

Pediatric pulmonology, 2024-03, Vol.59 (3), p.788-790

2024

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Unravelling leptin variants: advancing precision medicine in obesity

Nature reviews. Endocrinology, 2023-10, Vol.19 (10), p.562-563

2023

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Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016

Obesity facts, 2016-06, Vol.9 (3), p.158-173

2016

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Cart Overexpression Is the Only Identifiable Cause of High Bone Mass in Melanocortin 4 Receptor Deficiency

Endocrinology (Philadelphia), 2006-07, Vol.147 (7), p.3196-3202

2006

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Current Treatments for Patients with Genetic Obesity

Journal of clinical research in pediatric endocrinology, 2023-05, Vol.15 (2), p.108-119

2023

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IMPROVE 2022 International Meeting on Pathway‐Related Obesity: Vision of Excellence

CLINICAL OBESITY, 2024-06, Vol.14 (3), p.n/a

2024

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Hyperphagia and impulsivity: use of self-administered Dykens' and in-house impulsivity questionnaires to characterize eating behaviors in children with severe and early-onset obesity

Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.84-84, Article 84

2024

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

Annales d'endocrinologie, 2022-02, Vol.83 (1), p.63-72

2022

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Diagnosing undernutrition children and adults: new French criteria. Why, for what and for whom? A joint statement of the French National Authority for Health and French Federation of Nutrition

British journal of nutrition, 2022-03, Vol.127 (5), p.739-751

2022

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Intermediate-Term Efficacy and Tolerance of Statins in Children

The Journal of pediatrics, 2019-07, Vol.210, p.161-165

2019

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Genome wide association study identifies KCNMA1 contributing to human obesity

BMC medical genomics, 2011-06, Vol.4 (1), p.51-51

2011

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Prevalence and Etiologies of Renal and Urinary Manifestations in a Large Cohort of Children With Inflammatory Bowel Disease

Journal of pediatric gastroenterology and nutrition, 2023-03, Vol.76 (3), p.331-337

2023

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Pediatric Home Parenteral Nutrition in France: A six years national survey

Clinical nutrition (Edinburgh, Scotland), 2021-10, Vol.40 (10), p.5278-5287

2021

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

The journal of clinical endocrinology and metabolism, 2021-10, Vol.106 (10), p.2991-3006

2021

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Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency

Molecular metabolism (Germany), 2017-10, Vol.6 (10), p.1321-1329

2017

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

The journal of clinical endocrinology and metabolism, 2008-12, Vol.93 (12), p.4955-4962

2008

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Molecular Genetics of Human Obesity-Associated MC4R Mutations

Annals of the New York Academy of Sciences, 2003-06, Vol.994 (1), p.49-57

2003

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Seven Novel Deleterious LEPR Mutations Found in Early-Onset Obesity: a ΔExon6–8 Shared by Subjects From Reunion Island, France, Suggests a Founder Effect

The journal of clinical endocrinology and metabolism, 2015-05, Vol.100 (5), p.E757-E766

2015

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Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

Frontiers in immunology, 2018-05, Vol.9, p.1036-1036

2018

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Multichamber Dysfunction in Children and Adolescents With Severe Obesity: A Cardiac Magnetic Resonance Imaging Myocardial Strain Study

Journal of magnetic resonance imaging, 2021-11, Vol.54 (5), p.1393-1403

2021

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Sleep disordered breathing in Silver−Russell syndrome patients: a new outcome

Sleep medicine, 2019-12, Vol.64, p.23-29

2019

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Leptin and leptin receptor-related monogenic obesity

Novel therapeutics in rare genetic obesities: A narrative review

IBD‐Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome

Elexacaftor/tezacaftor/ivacaftor can rescue pancreatic function in F508del homozygous children

Unravelling leptin variants: advancing precision medicine in obesity

Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016

Cart Overexpression Is the Only Identifiable Cause of High Bone Mass in Melanocortin 4 Receptor Deficiency

Current Treatments for Patients with Genetic Obesity

IMPROVE 2022 International Meeting on Pathway‐Related Obesity: Vision of Excellence

Hyperphagia and impulsivity: use of self-administered Dykens' and in-house impulsivity questionnaires to characterize eating behaviors in children with severe and early-onset obesity

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

Diagnosing undernutrition children and adults: new French criteria. Why, for what and for whom? A joint statement of the French National Authority for Health and French Federation of Nutrition

Intermediate-Term Efficacy and Tolerance of Statins in Children

Genome wide association study identifies KCNMA1 contributing to human obesity

Prevalence and Etiologies of Renal and Urinary Manifestations in a Large Cohort of Children With Inflammatory Bowel Disease

Pediatric Home Parenteral Nutrition in France: A six years national survey

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

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency

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

Molecular Genetics of Human Obesity-Associated MC4R Mutations

Seven Novel Deleterious LEPR Mutations Found in Early-Onset Obesity: a ΔExon6–8 Shared by Subjects From Reunion Island, France, Suggests a Founder Effect

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

Multichamber Dysfunction in Children and Adolescents With Severe Obesity: A Cardiac Magnetic Resonance Imaging Myocardial Strain Study

Sleep disordered breathing in Silver−Russell syndrome patients: a new outcome

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