Associated Papers
Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity: Experience from two centres.
Morandi A et al.
Pediatric Obesity, 2024
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
Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients.
da Fonseca ACP et al.
Eating and Weight Disorders : Ewd, 2021
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
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