Associated Papers
The Role of DLK1 Deficiency in Central Precocious Puberty and Association with Metabolic Dysregulation.
D Apos Aniello F et al.
Hormone Research in Paediatrics, 2026
Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment.
Dhar S et al.
Scientific Reports, 2024
Novel variants ensued genomic imprinting in familial central precocious puberty.
Karaman V et al.
Journal of Endocrinological Investigation, 2024
Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
Baena N et al.
Clinical Epigenetics, 2024
Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.
Montenegro L et al.
European Journal of Endocrinology, 2023
A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.
Palumbo S et al.
Journal of Endocrinological Investigation, 2023
The Role of SNPs in the Pathogenesis of Idiopathic Central Precocious Puberty in Girls.
Toutoudaki K et al.
Children (basel, Switzerland), 2023
Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature.
Yuan G et al.
Molecular Genetics & Genomic Medicine, 2022
High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.
Crespo RP et al.
Journal of the Endocrine Society, 2022
Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants.
Pham A et al.
European Journal of Human Genetics : Ejhg, 2021
Novel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study.
Montenegro L et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Pioneering studies on monogenic central precocious puberty.
Canton APM et al.
Archives of Endocrinology and Metabolism, 2019
DLK1, Notch Signaling and the Timing of Puberty.
Macedo DB et al.
Seminars in Reproductive Medicine, 2019
DLK1 Is a Novel Link Between Reproduction and Metabolism.
Gomes LG et al.
The Journal of Clinical Endocrinology and Metabolism, 2019