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The Journal of Clinical Endocrinology and Metabolism|November 1, 2014
A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancerAlfonso Massimiliano Ferrara, Theodora Pappa, Jiao Fu, et al.
Clinical Endocrinology|September 27, 2003
Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter proteinMassimo Tonacchera, Patrizia Agretti, Giuseppina de Marco, et al.
Medrxiv : the Preprint Server for Health Sciences|May 4, 2026
THRB splice site variants lead to exon 4 skipping and TRβ1 gain-of-function syndromeGeorg Sebastian Hönes, Xiao-Hui Liao, Elisa Annabelle Mahler, et al.
Endocrinology|June 23, 2017
An Essential Physiological Role for MCT8 in Bone in Male MiceVictoria D Leitch, Caterina Di Cosmo, Xiao-Hui Liao, et al.
Thyroid : Official Journal of the American Thyroid Association|August 5, 2020
Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene MutationSamuel Refetoff, Theodora Pappa, Meredith K Williams, et al.
Molecular Endocrinology (Baltimore, Md.)|October 13, 2007
A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidismJ H Duncan Bassett, Allan J Williams, Elaine Murphy, et al.
Thyroid : Official Journal of the American Thyroid Association|March 30, 2022
AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-DeficiencyXiao-Hui Liao, Pablo Avalos, Oksana Shelest, et al.
The Journal of Clinical Investigation|November 23, 2011
Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activationDebyani Chakravarty, Elmer Santos, Mabel Ryder, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 12, 2011
Thyrotrophin receptor signaling dependence of Braf-induced thyroid tumor initiation in miceAime T Franco, Roberta Malaguarnera, Samuel Refetoff, et al.
The Journal of Clinical Endocrinology and Metabolism|May 5, 2005
Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate lociHelmut Grasberger, Aviva Mimouni-Bloch, Marie-Christine Vantyghem, et al.
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