Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

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

(2014) Carla Moran et al.   Lancet Diabetes & Endocrinology

An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α

(2013) Carla Moran et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Nuclear receptor corepressor (NCOR1) regulates in vivo actions of a mutated thyroid hormone receptor  

(2013) L. Fozzatti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nuclear receptor coregulators: modulators of pathology and therapeutic targets

(2012) David M. Lonard et al.   Nature Reviews Endocrinology

Clinical Phenotype and Mutant TRα1

(2012) Alies van Mullem et al.   NEW ENGLAND JOURNAL OF MEDICINE

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

A Mutation in the Thyroid Hormone Receptor Alpha Gene

(2011) Elena Bochukova et al.   NEW ENGLAND JOURNAL OF MEDICINE