👤 İbrahim Tekedereli

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Emine Çamtosun, Ayşehan Akıncı, Leman Kayaş +2 more · 2023 · Journal of clinical research in pediatric endocrinology · added 2026-04-24
Variants of the melanocortin-4 receptor (
📄 PDF DOI: 10.4274/jcrpe.galenos.2021.2021.0158
MC4R
Ayşehan Akıncı, Doğa Türkkahraman, İbrahim Tekedereli +15 more · 2019 · Journal of clinical research in pediatric endocrinology · added 2026-04-24
Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, Show more
Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit any physical abnormalities or developmental delay. The aim of this study was to screen 41 different obesity-related genes in children with non-syndromic early onset severe obesity. Children with severe (body mass index-standard deviation score >3) and early onset (<7 years) obesity were screened by next-generation sequencing based, targeted DNA custom panel for 41 known-obesity-related genes and the results were confirmed by Sanger technique. Six novel variants were identified in five candidate genes in seven out of 105 children with severe obesity; two in We identified six novel and four previously described variants in six obesity-related genes in 11 out of 105 childrens with early onset severe obesity. The prevalence of monogenic obesity was 10.4% in our cohort. Show less
📄 PDF DOI: 10.4274/jcrpe.galenos.2019.2019.0021
MC4R