Associated Papers
Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant.
Jin YY et al.
World Journal of Pediatrics : Wjp, 2026
Use of serum MKRN3 and DLK1 levels in precocious puberty: association with an MKRN3 pathogenic variant.
Karakilic-Ozturan E et al.
Therapeutic Advances in Endocrinology and Metabolism, 2026
Phenotypic Variability of Males with Loss-of-Function Mutations of <italic>MKRN3</italic>: A Case Report and Literature Review.
Yamanaka MYM et al.
Hormone Research in Paediatrics, 2025
Novel variants ensued genomic imprinting in familial central precocious puberty.
Karaman V et al.
Journal of Endocrinological Investigation, 2024
Novel MKRN3 gene mutation associated with central precocious puberty in a Chinese child: a case report.
Wang J et al.
Frontiers in Endocrinology, 2024
Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.
Magnotto JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central precocious puberty.
Kırkgöz T et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E et al.
Journal of Human Genetics, 2021
Makorin RING finger protein 3 and central precocious puberty.
Maione L et al.
Current Opinion in Endocrine and Metabolic Research, 2020
A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report.
Liu M et al.
Medicine, 2020
(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.
Suzuki E et al.
Human Genome Variation, 2019
Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.
Macedo DB et al.
Neuroendocrinology, 2018
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.
Bessa DS et al.
Neuroendocrinology, 2017
Two Frameshift Mutations in MKRN3 in Turkish Patients with Familial Central Precocious Puberty.
Simsek E et al.
Hormone Research in Paediatrics, 2017
Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty.
Ortiz-Cabrera NV et al.
Hormone Research in Paediatrics, 2017
Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.
Simon D et al.
European Journal of Endocrinology, 2016
Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation.
Macedo DB et al.
Endocrine Development, 2016
A new pathway in the control of the initiation of puberty: the MKRN3 gene.
Abreu AP et al.
Journal of Molecular Endocrinology, 2015
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
Macedo DB et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
MKRN3 mutations in familial central precocious puberty.
Schreiner F et al.
Hormone Research in Paediatrics, 2014
New causes of central precocious puberty: the role of genetic factors.
Bulcao Macedo D et al.
Neuroendocrinology, 2014
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
Abreu AP et al.
The New England Journal of Medicine, 2013