Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Changes in brain structure in subjects with resistance to thyroid hormone due to THRB mutations.
Rogge B et al.
Thyroid Research, 2023
The clinical characteristics and gene mutations associated with thyroid hormone resistance syndrome coexisting with pituitary tumors.
Zhao J et al.
Frontiers in Endocrinology, 2023
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
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance.
Heldmann M et al.
Endocrine Connections, 2022
Autoimmune thyroid disease and thyroid function test fluctuations in patients with resistance to thyroid hormone.
Okazaki-Hada M et al.
European Journal of Endocrinology, 2021
An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.
Tagami T
Endocrine Journal, 2021
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
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Resistance to thyroid hormone-beta co-existing with partially empty sella in a Jordanian male.
Al Mohareb O et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2018
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
A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate.
Furlanetto TW et al.
Molecular Genetics and Metabolism, 2000
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