Associated Papers
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
Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.
Mazen IH et al.
Molecular Genetics and Genomics : Mgg, 2023
A fresh look to the phenotype in mono-allelic likely pathogenic variants of the leptin and the leptin receptor gene.
Koerber-Rosso I et al.
Molecular and Cellular Pediatrics, 2021
Leptin Receptor Compound Heterozygosity in Humans and Animal Models.
Berger C et al.
International Journal of Molecular Sciences, 2021
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
Kleinendorst L et al.
European Journal of Endocrinology, 2020
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf
Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.
Nunziata A et al.
Journal of the Endocrine Society, 2019
Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density.
Hannema SE et al.
Hormone Research in Paediatrics, 2016
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