Associated Papers
Resmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants.
Mitsutani M et al.
Biological & Pharmaceutical Bulletin, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
The Clinical and Genetic Diversity of Thyroid Hormone Resistance: Four Clinical Vignettes.
Deeb A et al.
Hormone Research in Paediatrics, 2024
THRB Gene Mosaicism Confirmed by Next-Generation Sequencing in a Clinically Symptomatic Infant.
Cheng JYK et al.
Jcem Case Reports, 2024
Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone.
Hatano M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
Cardiovascular morbidity and mortality in patients in Wales, UK with resistance to thyroid hormone β (RTHβ): a linked-record cohort study.
Okosieme OE et al.
The Lancet. Diabetes & Endocrinology, 2023
Clinically Symptomatic Resistance to Thyroid Hormone β Syndrome Because of THRB Gene Mosaicism.
Donnars A et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Bezafibrate induces hypothyroidism in a patient with resistance to thyroid hormone β due to a G347R variant.
Yamauchi I et al.
Clinical Endocrinology, 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
Update on resistance to thyroid hormone syndromeβ.
Sun H et al.
Italian Journal of Pediatrics, 2020
Thyroid hormone resistance syndrome with P453T mutation in thyroid hormone receptor β gene: A pedigree report.
Yusufu A et al.
Medicine, 2020
Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity.
Dieu X et al.
Journal of Clinical Medicine, 2020
Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Concolino P et al.
Molecular Diagnosis & Therapy, 2019
Thyroid hormone resistance and the value of genetics: Three case reports.
Xiao X et al.
Medicine, 2019
Challenging diagnosis of thyroid hormone resistance initially as Hashimoto's thyroiditis.
Ch'ng TW et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones.
Arsov T et al.
Thyroid Research, 2019
Thyroid Hormone Resistance in Identical Twin Sisters with Atrial Fibrillation: Case Report and Review of the Literature.
Zimering MB
Journal of Endocrinology and Diabetes, 2018
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Pappa T et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
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
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
Genetic determination of the hypothalamic-pituitary-thyroid axis: where do we stand?
Medici M et al.
Endocrine Reviews, 2015
A family of RTHβ with p.R316C mutation presenting occasional syndrome of inappropriate secretion of TSH.
Ueda Y et al.
Endocrine Journal, 2015
Conservative management of pregnancy in patients with resistance to thyroid hormone associated with Hashimoto's thyroiditis.
Jonas C et al.
Thyroid : Official Journal of the American Thyroid Association, 2014
Resistance to thyroid hormone due to mutations in the THRB gene impairs bone mass and affects calcium and phosphorus homeostasis.
Cardoso LF et al.
Bone, 2014
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
Moran C et al.
The Lancet. Diabetes & Endocrinology, 2014
Is there a role for inherited TRβ mutation in human carcinogenesis? [corrected].
Weinert LS et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
One Novel and Two Recurrent THRB Mutations Associated with Resistance to Thyroid Hormone: Structure-based Computational Mutation Prediction.
Narumi S et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2010
A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate.
Cömert S et al.
Minerva Pediatrica, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone.
Magalhães PK et al.
Clinical Endocrinology, 2007
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism.
Jeziorowska A et al.
Thyroid : Official Journal of the American Thyroid Association, 2006
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
An identical neo-mutation in the thyroid hormone receptor beta gene (A317T) in 2 unrelated Thai families with resistance to thyroid hormone.
Sunthornthepvarakul T et al.
Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 2000
Mutation in the thyroid hormone receptor beta gene (A317T) in a Thai subject with resistance to thyroid hormone.
Sunthornthepvarakul T et al.
Thyroid : Official Journal of the American Thyroid Association, 1997
Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.
Weiss RE et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
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
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
Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.
Hayashi Y et al.
The Journal of Clinical Investigation, 1994
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
Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene.
Poyrazoğlu S et al.
The Turkish Journal of Pediatrics, 0
Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.
Rivolta CM et al.
Molecular and Cellular Probes, 0
Phenotype variability and different genotype of four patients with thyroid hormone resistance syndrome due to variants in the THRB gene.
Toumba M et al.
Hippokratia, 0