Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
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
Bezafibrate induces hypothyroidism in a patient with resistance to thyroid hormone β due to a G347R variant.
Yamauchi I et al.
Clinical Endocrinology, 2022
An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.
Tagami T
Endocrine Journal, 2021
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
SNP mutations occurring in thyroid hormone receptor influenced individual susceptibility to triiodothyronine: Molecular dynamics and site-directed mutagenesis approaches.
Liu Y et al.
Journal of Cellular Biochemistry, 2018
Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ).
Pappa T et al.
Methods in Molecular Biology (clifton, N.j.), 2018
Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature.
Guo QH et al.
Medicine, 2016
Characteristics of patients with late manifestation of resistance thyroid hormone syndrome: a single-center experience.
Han R et al.
Endocrine, 2015
Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
Ferrara AM et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
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 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
Thyroid hormone receptor-beta mutants associated with generalized resistance to thyroid hormone show defects in their ligand-sensitive repression function.
Piedrafita FJ et al.
Molecular Endocrinology (baltimore, Md.), 1995
Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study.
Brucker-Davis F et al.
Annals of Internal Medicine, 1995
Allele-specific associated polymorphism analysis: novel modification of SSCP for mutation detection in heterozygous alleles using the paradigm of resistance to thyroid hormone.
Grace MB et al.
Human Mutation, 1995
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.
Beck-Peccoz P et al.
Journal of Endocrinological Investigation, 1994
Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK.
Beck-Peccoz P et al.
European Journal of Endocrinology, 1994
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K.
Beck-Peccoz P et al.
Thyroid : Official Journal of the American Thyroid Association, 1994