Associated Papers
Classification of Congenital Leptin Deficiency.
von Schnurbein J et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.
Saeed S et al.
Cell Reports. Medicine, 2023
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
Leptin Signaling in Obesity and Colorectal Cancer.
Socol CT et al.
International Journal of Molecular Sciences, 2022
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
Serum IGF1 and linear growth in children with congenital leptin deficiency before and after leptin substitution.
Beghini M et al.
International Journal of Obesity (2005), 2021
Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan.
Saeed S et al.
Diabetes, 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
Estimated prevalence of potentially damaging variants in the leptin gene.
Nunziata A et al.
Molecular and Cellular Pediatrics, 2017
Monogenic forms of childhood obesity due to mutations in the leptin gene.
Funcke JB et al.
Molecular and Cellular Pediatrics, 2014
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
Bonnefond A et al.
Diabetes Care, 2014
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