Associated Papers
Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.
Wilpert NM et al.
International Journal of Molecular Sciences, 2024
2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.
Persani L et al.
European Thyroid Journal, 2024
What is the Role of Thyroid Hormone Receptor Alpha 2 (TRα2) in Human Physiology?
Paisdzior S et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2022
Structure-Guided Approach to Relieving Transcriptional Repression in Resistance to Thyroid Hormone α.
Romartinez-Alonso B et al.
Molecular and Cellular Biology, 2022
Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.
Di Cicco E et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation.
Furman AE et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
Paisdzior S et al.
International Journal of Molecular Sciences, 2021
The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults
Erbaş İM et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
New Case of Thyroid Hormone Resistance α Caused by a Mutation of THRA /TRα1.
Sun H et al.
Journal of the Endocrine Society, 2019
Syndromes of Resistance to Thyroid Hormone Action.
Persani L et al.
Experientia Supplementum (2012), 2019
CRISPR/Cas9 Editing of the Mouse Thra Gene Produces Models with Variable Resistance to Thyroid Hormone.
Markossian S et al.
Thyroid : Official Journal of the American Thyroid Association, 2018
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
Tylki-Szymańska A et al.
Journal of Medical Genetics, 2015