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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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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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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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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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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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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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Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

The journal of clinical endocrinology and metabolism, 2018-07, Vol.103 (7), p.2436-2446

2018

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Metabolic and Adipose Tissue Signatures in Adults With Prader-Willi Syndrome: A Model of Extreme Adiposity

The journal of clinical endocrinology and metabolism, 2015-03, Vol.100 (3), p.850-859

2015

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Therapeutic strategies for idiopathic chylothorax

Journal of pediatric surgery, 2008-03, Vol.43 (3), p.461-465

2008

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Persistent Bloodstream Infection with Kocuria rhizophila Related to a Damaged Central Catheter

Journal of Clinical Microbiology, 2012-04, Vol.50 (4), p.1495-1498

2012

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Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S]

Journal of lipid research, 2016-03, Vol.57 (3), p.482-491

2016

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Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome

Archives of disease in childhood, 2015-04, Vol.100 (4), p.353-358

2015

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

The Journal of clinical investigation, 2017-01, Vol.127 (1), p.293-305

2017

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Presence of increased stiffness of the common carotid artery and endothelial dysfunction in severely obese children: a prospective study

The Lancet (British edition), 2001-10, Vol.358 (9291), p.1400-1404

2001

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Intractable Diarrhea With Tufting Enteropathy: A Favorable Outcome Is Possible

Journal of pediatric gastroenterology and nutrition, 2011-06, Vol.52 (6), p.734-739

2011

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Plasma Citrulline Concentration Reflects Enterocyte Mass in Children With Short Bowel Syndrome

Pediatric research, 2009-05, Vol.65 (5), p.559-563

2009

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Melanocortin 4 Receptor Mutations in a Large Cohort of Severely Obese Adults: Prevalence, Functional Classification, Genotype-Phenotype Relationship, and Lack of Association with Binge Eating

The journal of clinical endocrinology and metabolism, 2006-05, Vol.91 (5), p.1811-1818

2006

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Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome

Archives of disease in childhood, 2014-01, Vol.99 (1), p.35-38

2014

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Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity

Human molecular genetics, 2011-01, Vol.20 (2), p.392-399

2011

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IBD‐Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome

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

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

Intermediate-Term Efficacy and Tolerance of Statins in Children

Genome wide association study identifies KCNMA1 contributing to human obesity

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

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

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

Metabolic and Adipose Tissue Signatures in Adults With Prader-Willi Syndrome: A Model of Extreme Adiposity

Therapeutic strategies for idiopathic chylothorax

Persistent Bloodstream Infection with Kocuria rhizophila Related to a Damaged Central Catheter

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France[S]

Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome

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

Presence of increased stiffness of the common carotid artery and endothelial dysfunction in severely obese children: a prospective study

Intractable Diarrhea With Tufting Enteropathy: A Favorable Outcome Is Possible

Plasma Citrulline Concentration Reflects Enterocyte Mass in Children With Short Bowel Syndrome

Melanocortin 4 Receptor Mutations in a Large Cohort of Severely Obese Adults: Prevalence, Functional Classification, Genotype-Phenotype Relationship, and Lack of Association with Binge Eating

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome

Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity

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