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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.
Supportive Care in Cancer : Official Journal of the Multinational Association of Supportive Care in Cancer|September 20, 2011
Development of a knowledge assessment tool for dermatotoxicity caused by inhibitors of epidermal growth factor receptorDimitrios Konstantinos Papageorgiou, Theocharis Konstantinidis, Theocharis Konsatntinidis, et al.
Endocrine Pathology|May 6, 2026
Clinicopathologic and Molecular Features of Poorly Differentiated Thyroid Carcinomas in Adults ≤ 45 Years of AgeMaria Cristina Riascos, Ellen Marqusee, Sara Ahmadi, 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.
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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