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17 Darendeliler F, Bas F: Successful therapy with 3,5,3'-triiodothyroacetic acid (TRIAC) in pituitary resistance to thyroid hormone. J Pediatr Endocrinol Metab 1997;10:535-538.

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19 Schwartz ID, Bercu BB: Dextrothyroxine in the treatment of generalized thyroid hormone resistance in a boy homozygous for a defect in the T3 receptor. Thyroid 1992;2:15-19.

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24 Usala SJ, Bale AE, Gesundheit N, Weinberger C, Lash RW, Wondisford FE, McBride OW, Weintraub BD: Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene. Mol Endocrinol 1988;2:1217-1220.

25 Collingwood TN, Wagner R, Matthews CH, Clifton-Bligh RJ, Gurnell M, Rajanayagam O, Agostini M, Fletterick RJ, Beck-Peccoz P, Reinhardt W, Binder G, Ranke MB, Hermus A, Hesch RD, Lazarus J, Newrick P, Parfitt V Raggatt P, de Zegher F, Chatterjee VK: 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. EMBO J 1998;17:4760-4770.

26 Sakurai A, Miyamoto T, Refetoff S, DeGroot LJ: Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone. Mol Endocrinol 1990;4:1988-1994.

27 Collingwood TN, Adams M, Tone Y, Chatterjee VK: Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone beta-receptors in thyroid hormone resistance syndrome. Mol Endocrinol 1994;8:1262-1277.

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29 Safer JD, Cohen RN, Hollenberg AN, Wondisford FE: Defective release of corepressor by hinge mutants of the thyroid hormone receptor found in patients with resistance to thyroid hormone. J Biol Chem 1998;273:30175-30182.

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31 Forrest D, Hanebuth E, Smeyne RJ, Everds N, Stewart CL, Wehner JM, Curran T: Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor beta: evidence for tissue-specific modulation of receptor function. EMBO J 1996;15:3006-3015.

32 Zhu XG, Kaneshige M, Parlow AF, Chen E, Hunziker RD, McDonald MP, Cheng SY: Expression of the mutant thyroid hormone receptor PV in the pituitary of transgenic mice leads to weight reduction. Thyroid 1999;9:1137-1145.

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39 Ercan-Fang S, Schwartz HL, Mariash CN, Oppenheimer JH: Quantitative assessment of pituitary resistance to thyroid hormone from plots of the logarithm of thyrotropin versus serum free thyrox-ine index. J Clin Endocrinol Metab 2000;85:2299-2303.

40 Zandieh Doulabi B, Platvoet-ter Schiphorst M, van Beeren HC, Labruyere WT, Lamers WH, Fliers E, Bakker O, Wiersinga WM: TR(beta)1 protein is preferentially expressed in the pericentral zone of rat liver and exhibits marked diurnal variation. Endocrinology 2002;143:979-984.

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45 Brown NS, Smart A, Sharma V, Brinkmeier ML, Greenlee L, Camper SA, Jensen DR, Eckel RH, Krezel W, Chambon P, Haugen BR: Thyroid hormone resistance and increased metabolic rate in the RXR-gamma-deficient mouse. J Clin Invest 2000;106:73-79.

46 Weiss RE, Xu J, Ning G, Pohlenz J, O'Malley BW, Refetoff S: Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone. EMBO J 1999;18:1900-1904.

47 Weiss RE, Refetoff S: Resistance to thyroid hormone. Rev Endocr Metab Dis 2000;1:97-108.

O. Bakker, PhD

Division of Endocrinology and Metabolism, Academic Medical Center Meibergdreef 9

NL-1105 AZ Amsterdam (The Netherlands)

Tel. +31 205666071, Fax +31 206917682, E-Mail [email protected]

Krassas GE, Rivkees SA, Kiess W (eds): Diseases of the Thyroid in Childhood and Adolescence. Pediatr Adolesc Med. Basel, Karger, 2007, vol 11, pp 154-168

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