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JAMA|August 12, 2004
Fetal loss associated with excess thyroid hormone exposureJoão Anselmo, Dingcai Cao, Theodore Karrison, et al.
The Journal of Laboratory and Clinical Medicine|August 16, 2005
Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T)Sharon Y Wu, Peter M Sadow, Samuel Refetoff, et al.
Molecular Endocrinology (Baltimore, Md.)|March 22, 2007
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factorHelmut Grasberger, Xavier De Deken, Francoise Miot, et al.
Thyroid : Official Journal of the American Thyroid Association|November 17, 2020
Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) MutationAry E Furman, Alexandra M Dumitrescu, Samuel Refetoff, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|September 28, 2017
Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid SyndromePia Hermanns, Małgorzata Kumorowicz-Czoch, Helmut Grasberger, et al.
European Journal of Endocrinology|December 14, 2004
Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excessJaime Kim, Sirimon Reutrakul, Dawn Belt Davis, et al.
The Journal of Clinical Endocrinology and Metabolism|November 3, 2005
Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndromeKenan Qin, David A Ehrmann, Nancy Cox, et al.
European Thyroid Journal|August 9, 2017
A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 FamiliesTheodora Pappa, Lars C Moeller, Deborah V Edidin, et al.
Nuclear Receptor Signaling|July 25, 2006
Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor beta through the phosphatidylinositol 3-kinase pathwayLars C Moeller, Xia Cao, Alexandra M Dumitrescu, et al.
Molecular Endocrinology (Baltimore, Md.)|February 19, 2005
Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activityHelmut Grasberger, Usanee Ringkananont, Paule Lefrancois, et al.
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