Homozygosity for two missense mutations in the leptin receptor gene (P316T;W646C) in a Turkmenian girl with severe early-onset obesity
Leptin receptor gene mutations are a very rare cause of severe early-onset obesity. They are
also associated with lack of pubertal development and intense hyperphagia. Presented here …
also associated with lack of pubertal development and intense hyperphagia. Presented here …
Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity
I Mazen, M El-Gammal, M Abdel-Hamid… - Molecular genetics and …, 2011 - Elsevier
Congenital deficiency of the leptin receptor is a very rare cause of severe early-onset
obesity. To date, only 9 families have been reported in the literature to have mutations in the …
obesity. To date, only 9 families have been reported in the literature to have mutations in the …
[HTML][HTML] A novel mutation in the leptin gene (W121X) in an Egyptian family
I Mazen, K Amr, S Tantawy, IS Farooqi… - Molecular genetics and …, 2014 - Elsevier
Congenital leptin deficiency is a rare recessively inherited condition due to homozygous
mutations in the LEP gene. To date, only nine mutations have been identified in the LEP …
mutations in the LEP gene. To date, only nine mutations have been identified in the LEP …
Congenital leptin deficiency due to homozygosity for the Δ133G mutation: report of another case and evaluation of response to four years of leptin therapy
WT Gibson, IS Farooqi, M Moreau… - The Journal of …, 2004 - academic.oup.com
Congenital leptin deficiency is a rare, but treatable, cause of severe early-onset obesity. To
date, two United Kingdom families of Pakistani origin carrying a frameshift/premature stop …
date, two United Kingdom families of Pakistani origin carrying a frameshift/premature stop …
A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient
I Mazen, M El-Gammal, M Abdel-Hamid… - Molecular genetics and …, 2009 - Elsevier
Congenital leptin deficiency is a rare recessive genetic disorder resulting in severe
hyperphagia and early onset obesity. It is caused by mutations in the LEP gene encoding …
hyperphagia and early onset obesity. It is caused by mutations in the LEP gene encoding …
Severe early-onset obesity due to bioinactive leptin caused by a p. N103K mutation in the leptin gene
M Wabitsch, JB Funcke… - The Journal of …, 2015 - academic.oup.com
Context: Congenital leptin deficiency is a very rare cause of severe early-onset obesity. We
recently characterized a mutation in the leptin gene (p. D100Y), which was associated with …
recently characterized a mutation in the leptin gene (p. D100Y), which was associated with …
Monogenic leptin deficiency in early childhood obesity
G ElSaeed, N Mousa, F El‐Mougy, M Hafez… - Pediatric …, 2020 - Wiley Online Library
Background Early childhood obesity is a public health problem worldwide. It affects different
aspects of physical and mental child's health. Identifying the etiologies, especially treatable …
aspects of physical and mental child's health. Identifying the etiologies, especially treatable …
[PDF][PDF] Exon skipping and severe childhood‐onset obesity caused by a leptin receptor mutation
N Kakar, J Ahmad, C Kubisch, G Borck - American Journal of Medical …, 2013 - academia.edu
Obesity is a chronic disorder that is believed to be due to numerous interacting genetic and
non-genetic factors as typically found in multifactorial diseases [Walley et al., 2009]. The …
non-genetic factors as typically found in multifactorial diseases [Walley et al., 2009]. The …
[PDF][PDF] Severe early onset obesity due to a novel missense mutation in Exon 3 of the leptin gene in an infant from Northwest India
D Dayal, K Seetharaman, I Panigrahi… - Journal of Clinical …, 2018 - jag.journalagent.com
Monogenic obesity, caused by mutations in one of the genes involved in the control of
hunger and satiety, is a rare cause of early onset obesity (EOO). The most common of the …
hunger and satiety, is a rare cause of early onset obesity (EOO). The most common of the …
Leptin deficiency and leptin gene mutations in obese children from Pakistan
Background: Congenital leptin deficiency is a rare human genetic condition clinically
characterized by hyperphagia and acute weight gain usually during the first postnatal year …
characterized by hyperphagia and acute weight gain usually during the first postnatal year …
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