Associated Papers
Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.
Yang J et al.
Archives of Endocrinology and Metabolism, 2026
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review
Kayaş L et al.
Journal of Clinical Research in Pediatric Endocrinology, 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
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
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
A family of RTHβ with p.R316C mutation presenting occasional syndrome of inappropriate secretion of TSH.
Ueda Y et al.
Endocrine Journal, 2015
Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH).
Chiesa A et al.
Endocrine, 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 case of resistance to thyroid hormone with thyroid cancer.
Kim HK et al.
Journal of Korean Medical Science, 2010
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
Neonatal thyrotoxicosis and maternal infertility in thyroid hormone resistance due to a mutation in the TRbeta gene (M313T).
Blair JC et al.
Clinical Endocrinology, 2002
A new point mutation (M313T) in the thyroid hormone receptor beta gene in a patient with resistance to thyroid hormone.
di Fulvio M et al.
Thyroid : Official Journal of the American Thyroid Association, 1997
Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH).
Refetoff S et al.
Thyroid : Official Journal of the American Thyroid Association, 1996
A novel missense mutation in the thyroid hormone receptor beta gene in a kindred with resistance to thyroid hormone.
Kijima H et al.
Human Genetics, 1996
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