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
Classification of Congenital Leptin Deficiency.
von Schnurbein J et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family.
Li H et al.
Molecular Genetics and Metabolism Reports, 2024
A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.
Besci Ö et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
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
The genetic elucidation of monogenic obesity in the Arab world: a systematic review.
AbouHashem N et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database.
Rajcsanyi LS et al.
Plos One, 2022
36121795 (PubMed )
Supplement: pone.0266642.s003.pdf
When Leptin Is Not There: A Review of What Nonsyndromic Monogenic Obesity Cases Tell Us and the Benefits of Exogenous Leptin.
Salum KCR et al.
Frontiers in Endocrinology, 2021
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
Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes.
Bolze F et al.
Scientific Reports, 2017
Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity.
Wasim M et al.
Biochemical Genetics, 2016
A novel mutation in the leptin gene (W121X) in an Egyptian family.
Mazen I et al.
Molecular Genetics and Metabolism Reports, 2014
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