Associated Papers
A Novel THRβ Variant in a Child With Resistance to Thyroid Hormone β: Diagnostic and Therapeutic Challenges.
Gürpınar G et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Multigenerational thyroid hormone resistance due to THRβ mutation.
Kopanos S et al.
European Heart Journal. Case Reports, 2025
Resmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants.
Mitsutani M et al.
Biological & Pharmaceutical Bulletin, 2025
Effects of Resmetirom on Resistance to Thyroid Hormone Receptor Mutants: Potential Basis for Therapeutic Applications.
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
Effective TRIAC treatment of a THRβ-mutated patient with thyroid hormone resistance.
Carbone A et al.
Endocrine, 2024
Resistance to Thyroid Hormone Beta Due to THRB Mutation in a Patient Misdiagnosed With TSH-Secreting Pituitary Adenoma.
Liao W et al.
Jcem Case Reports, 2024
Challenging diagnosis of resistance to thyroid hormone in a patient with COVID-19, pituitary microadenoma and unusual response to octreotide long-acting release test.
Petolicchio C et al.
Endocrinology, Diabetes & Metabolism Case Reports, 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
Central hyperthyroidism combined with Graves' disease: case series and review of the literature.
Mo C et al.
European Thyroid Journal, 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
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
Clinical outcomes of 34 patients with resistance to thyroid hormone beta: a twenty-year experience in Japan.
Ohba K et al.
Endocrine Journal, 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 beta coexisting with papillary thyroid carcinoma-two case reports of a thyroid hormone receptor beta gene mutation and a literature review.
Fang Y et al.
Frontiers in Genetics, 2022
Dyslipidemia, Insulin Resistance, Ectopic Lipid Accumulation, and Vascular Function in Resistance to Thyroid Hormone β.
Moran C et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Coexistence of Autoimmune Hyper- and Hypothyroidism in a Kindred with Reduced Sensitivity to Thyroid Hormone.
Abdellaoui Y et al.
European Thyroid Journal, 2020
Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity.
Dieu X et al.
Journal of Clinical Medicine, 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
Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.
Ramos LS et al.
Endocrine, 2018
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Pappa T et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review.
Xing W et al.
Oncology Letters, 2017
A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma.
Sriphrapradang C et al.
Thyroid : Official Journal of the American Thyroid Association, 2016
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
Thyroid hormone resistance and its management.
Rivas AM et al.
Proceedings (baylor University. Medical Center), 2016
A Patient With a Thyrotropin-Secreting Microadenoma and Resistance to Thyroid Hormone (P453T).
Teng X et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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
Differentiated thyroid cancer in patients with resistance to thyroid hormone syndrome. A novel case and a review of the literature.
Vinagre J et al.
Frontiers in Molecular Biosciences, 2014
Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.
Larsen CC et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
Long-term 3,5,3'-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations.
Anzai R et al.
Thyroid : Official Journal of the American Thyroid Association, 2012
Differentiated thyroid cancer in two patients with resistance to thyroid hormone.
Paragliola RM et al.
Thyroid : Official Journal of the American Thyroid Association, 2011
Thyroid hormone resistance detected by routine neonatal screening.
Maciel LM et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
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
Resistance to thyroid hormone due to a novel thyroid hormone receptor mutant in a patient with hypothyroidism secondary to lingual thyroid and functional characterization of the mutant receptor.
Nakajima Y et al.
Thyroid : Official Journal of the American Thyroid Association, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
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
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease.
Hes FJ et al.
American Journal of Medical Genetics. Part A, 2009
Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.
Bayraktaroglu T et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2009
A child with resistance to thyroid hormone without thyroid hormone receptor gene mutation: a 20-year follow-up.
Hamon B et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone.
Magalhães PK et al.
Clinical Endocrinology, 2007
Endothelial dysfunction in a murine model of thyroid hormone resistance.
Owen PJ et al.
European Journal of Clinical Investigation, 2007
A family showing resistance to thyroid hormone associated with chronic thyroiditis and its clinical features: A case report.
Sato H et al.
Endocrine Journal, 2006
Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T).
Wu SY et al.
The Journal of Laboratory and Clinical Medicine, 2005
A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor β gene causes resistance to thyroid hormone.
Rivolta CM et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004
A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.
Rivolta CM et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2004