Associated Papers
Real-life experience on efficacy and safety of setmelanotide treatment in prepubertal children.
Kahveci A et al.
European Journal of Endocrinology, 2025
Monoallelic pathogenic variants in LEPR do not cause obesity.
Delplanque J et al.
American Journal of Human Genetics, 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
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
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
Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity.
Šket R et al.
Frontiers in Endocrinology, 2022
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
Methylphenidate in children with monogenic obesity due to LEPR or MC4R deficiency improves feeling of satiety and reduces BMI-SDS-A case series.
Brandt S et al.
Pediatric Obesity, 2020
Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.
Baron M et al.
Nature Medicine, 2019
Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India.
Bhatt A et al.
Molecular Genetics & Genomic Medicine, 2019
Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.
Nunziata A et al.
Journal of the Endocrine Society, 2019
Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.
Kohlsdorf K et al.
International Journal of Obesity (2005), 2018
Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.
Ayers KL et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Genetics of Obesity in Consanguineous Populations: Toward Precision Medicine and the Discovery of Novel Obesity Genes.
Saeed S et al.
Obesity (silver Spring, Md.), 2018
Role of Leptin Deficiency, Inefficiency, and Leptin Receptors in Obesity.
Wasim M et al.
Biochemical Genetics, 2016
Novel variants in the MC4R and LEPR genes among severely obese children from the Iberian population.
Albuquerque D et al.
Annals of Human Genetics, 2014
Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity.
Gill R et al.
Obesity (silver Spring, Md.), 2014
Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery.
Le Beyec J et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Leptin and leptin receptor-related monogenic obesity.
Dubern B et al.
Biochimie, 2012
Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity.
Mazen I et al.
Molecular Genetics and Metabolism, 2011
Homozygosity for two missense mutations in the leptin receptor gene (P316:W646C) in a Turkmenian girl with severe early-onset obesity.
Andiran N et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
[Recombinant DNA in the study of diabetes mellitus].
Pankov IuA
Molekuliarnaia Biologiia, 0