Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Changes in brain structure in subjects with resistance to thyroid hormone due to THRB mutations.
Rogge B et al.
Thyroid Research, 2023
Retrospective analysis and literature review of four cases of thyroid hormone resistance syndrome caused by THRB gene mutation.
Zhang L et al.
Translational Pediatrics, 2022
Thyroid hormone resistance syndrome due to a novel heterozygous mutation and concomitant Hashimoto's Thyroiditis: A pedigree report.
Xie Z et al.
The Journal of International Medical Research, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance.
Heldmann M et al.
Endocrine Connections, 2022
Resistance to thyroid hormone caused by heterozygous mutation of thyroid hormone receptor B gene c.G1378A: Report of one Chinese pedigree and literature review.
Huang B et al.
Clinical Case Reports, 2021
Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity.
Dieu X et al.
Journal of Clinical Medicine, 2020
Patients with mutations of the Thyroid hormone beta-receptor show an ADHD-like phenotype for performance monitoring: an electrophysiological study.
Uter J et al.
Neuroimage. Clinical, 2020
Thyroid hormone resistance from newborns to adults: a Spanish experience.
Vela A et al.
Journal of Endocrinological Investigation, 2019
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Genetic determination of the hypothalamic-pituitary-thyroid axis: where do we stand?
Medici M et al.
Endocrine Reviews, 2015
Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia.
Mitchell CS et al.
The Journal of Clinical Investigation, 2010
[Mutation analysis of KLF6 gene in human nasopharyngeal carcinomas].
Chen HK et al.
Ai Zheng = Aizheng = Chinese Journal of Cancer, 2002
Quantitative assessment of pituitary resistance to thyroid hormone from plots of the logarithm of thyrotropin versus serum free thyroxine index.
Ercan-Fang S et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
A novel TR beta mutation (R383H) in resistance to thyroid hormone syndrome predominantly impairs corepressor release and negative transcriptional regulation.
Clifton-Bligh RJ et al.
Molecular Endocrinology (baltimore, Md.), 1998
Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.
Adams M et al.
The Journal of Clinical Investigation, 1994