Associated Papers
Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.
Faccioli N et al.
Obesity (silver Spring, Md.), 2026
41451896 (PubMed )
Supplement: OBY-34-499-s001.xlsx › Variant_details
Medical semiology of patients with monogenic obesity: A systematic review.
Renard E et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024
38956946 (PubMed )
Supplement: supplement_1.pdf
Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.
Shah BP et al.
Expert Review of Endocrinology & Metabolism, 2023
36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp3-POMC-OR.xlsx › Sheet1
Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe Obesity.
Courbage S et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes.
Garcia Rodriguez R et al.
Prenatal Diagnosis, 2019
Identification of POMC exonic variants associated with substance dependence and body mass index.
Wang F et al.
Plos One, 2012
Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the alpha-melanocyte stimulating hormone domain.
Dubern B et al.
Pediatric Research, 2008
A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.
Lee YS et al.
Cell Metabolism, 2006
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