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Human Genetics|September 29, 2005
Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1Helmut Grasberger, Martine Vaxillaire, Silvana Pannain, et al.The Journal of Clinical Endocrinology and Metabolism|February 9, 2006
A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormoneSharon Y Wu, Ronald N Cohen, Enver Simsek, et al.The Journal of Clinical Endocrinology and Metabolism|November 29, 2007
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidismIlaria Zamproni, Helmut Grasberger, Francesca Cortinovis, et al.The International Journal of Biochemistry & Cell Biology|April 19, 2005
Subcellular recruitment by TSG118 and TSPYL implicates a role for zinc finger protein 106 in a novel developmental pathwayHelmut Grasberger, Graeme I BellJournal of the Chinese Medical Association : JCMA|November 8, 2003
The syndrome of resistance to thyroid stimulating hormoneSamuel RefetoffEndocrinology|July 21, 2007
Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic ratsLars C Moeller, Manuela Alonso, Xiaohui Liao, et al.Thyroid : Official Journal of the American Thyroid Association|March 11, 2004
Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronineJoão Anselmo, Samuel RefetoffFrontiers in Endocrinology|April 19, 2021
Resistance to Thyroid Hormone Beta: A Focused ReviewTheodora Pappa, Samuel RefetoffThe Journal of Clinical Investigation|October 14, 2025
Stimulated thyroid hormone synthesis machinery drives thyrocyte cell death independent of ER stressCrystal Young, Xiaohan Zhang, Xiaofan Wang, et al.Methods in Molecular Biology (Clifton, N.J.)|June 13, 2018
Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ)Theodora Pappa, Samuel RefetoffPageof 24