Associated Papers
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
Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
Demir K et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.
Vlaeminck-Guillem V et al.
Presse Medicale (paris, France : 1983), 2015
Resistance to thyroid hormone due to defective thyroid receptor alpha.
Moran C et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2015
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
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
[Pendred's syndrome. Current features].
Wémeau JL et al.
Presse Medicale (paris, France : 1983), 2001
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