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Refetoff S, DeWind LT, DeGroot LJ (1967) Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. <i>J Clin Endocrinol Metab<\/i> 27: 279-294.","DOI":"10.1210\/jcem-27-2-279"},{"key":"2","unstructured":"2. Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, et al. (1996) Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. <i>J Clin Endocrinol Metab<\/i> 81: 4196-4203."},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, et al. (1989) Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. <i>Proc Natl Acad Sci U S A<\/i> 86: 8977-8981.","DOI":"10.1073\/pnas.86.22.8977"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, et al. (2012) A mutation in the thyroid hormone receptor alpha gene. <i>N Engl J Med<\/i> 366: 243-249.","DOI":"10.1056\/NEJMoa1110296"},{"key":"5","unstructured":"5. Lazar MA (1993) Thyroid hormone receptors: multiple forms, multiple possibilities. <i>Endocr Rev<\/i> 14: 184-193."},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Tagami T, Yamamoto H, Moriyama K, Sawai K, Usui T, et al. (2010) Identification of a novel human thyroid hormone receptor beta isoform as a transcriptional modulator. <i>Biochem Biophys Res Commun<\/i> 396: 983-988.","DOI":"10.1016\/j.bbrc.2010.05.038"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Nakajima Y, Yamada M, Horiguchi K, Satoh T, Hashimoto K, et al. (2010) Resistance to thyroid hormone due to a novel thyroid hormone receptor mutant in a patient with hypothyroidism secondary to lingual thyroid and functional characterization of the mutant receptor. <i>Thyroid<\/i> 20: 917-926.","DOI":"10.1089\/thy.2009.0389"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Ferrara AM, Onigata K, Ercan O, Woodhead H, Weiss RE, et al. (2012) Homozygous thyroid hormone receptor \u03b2-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. <i>J Clin Endocrinol Metab<\/i> 97: 1328-1336.","DOI":"10.1210\/jc.2011-2642"},{"key":"9","unstructured":"9. Refetoff S, Weiss RE, Usala SJ (1993) The syndromes of resistance to thyroid hormone. <i>Endocr Rev<\/i> 14: 348-399."},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, et al. (1994) Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. <i>J Clin Invest<\/i> 94: 506-515.","DOI":"10.1172\/JCI117362"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Geffner ME, Su F, Ross NS, Hershman JM, Van Dop C, et al. (1993) An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype. <i>J Clin Invest<\/i> 91: 538-546.","DOI":"10.1172\/JCI116233"},{"key":"12","unstructured":"12. Weiss RE, Marcocci C, Bruno-Bossio G, Refetoff S (1993) Multiple genetic factors in the heterogeneity of thyroid hormone resistance. <i>J Clin Endocrinol Metab<\/i> 76: 257-259."},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Dumitrescu AM, Refetoff S (2013) The syndromes of reduced sensitivity to thyroid hormone. <i>Biochim Biophys Acta<\/i> 1830: 3987-4003.","DOI":"10.1016\/j.bbagen.2012.08.005"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Collingwood TN, Wagner R, Matthews CH, Clifton-Bligh RJ, Gurnell M, et al. (1998) A role for helix 3 of the TRbeta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone. <i>EMBO J<\/i> 17: 4760-4770.","DOI":"10.1093\/emboj\/17.16.4760"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Slezak R, Lukienczuk T, Noczynska A, Karpinski P, Lebioda A, et al. (2012) A novel p.E311K mutation of thyroid receptor beta gene in resistance to thyroid hormone syndrome, inherited in autosomal recessive trait. <i>Horm Metab Res<\/i> 44: 704-707.","DOI":"10.1055\/s-0032-1312666"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Pohlenz J, Manders L, Sadow PM, Kansal PC, Refetoff S, et al. (1999) A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone. <i>Thyroid<\/i> 9: 1195-1203.","DOI":"10.1089\/thy.1999.9.1195"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Fein HG, Burman KD, Djuh YY, Usala SJ, Bale AE, et al. (1991) Tight linkage of the human c-erbA beta gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds. <i>J Endocrinol Invest<\/i> 14: 219-223.","DOI":"10.1007\/BF03346792"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Catargi B, Monsaingeon M, Bex-Bachellerie V, Ronci-Chaix N, Trouette H, et al. (2002) A novel thyroid hormone receptor-beta mutation, not anticipated to occur in resistance to thyroid hormone, causes variable phenotypes. <i>Horm Res<\/i> 57: 137-142.","DOI":"10.1159\/000057965"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Safer JD, Colan SD, Fraser LM, Wondisford FE (2001) A pituitary tumor in a patient with thyroid hormone resistance: a diagnostic dilemma. <i>Thyroid<\/i> 11: 281-291.","DOI":"10.1089\/105072501750159750"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Kammoun I, Bouzid C, Kandara H, Ben Salem L, Turki Z, et al. (2011) A case of resistance to thyroid hormone with chronic thyroiditis: discovery of a novel mutation (I54V). <i>Case Rep Endocrinol<\/i> 2011: 584930 (Epub).","DOI":"10.1155\/2011\/584930"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Lafranchi SH, Snyder DB, Sesser DE, Skeels MR, Singh N, et al. 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