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Samuel Refetoff

TitleEmeritus/Emerita
InstitutionUniversity of Chicago
DepartmentMedicine-Endocrinology
AddressChicago IL 60637
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Fujisawa H, Gagné J, Dumitrescu AM, Refetoff S. Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid. 2019 Aug 21. PMID: 31432759.
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    2. Ikegami K, Refetoff S, Van Cauter E, Yoshimura T. Interconnection between circadian clocks and thyroid function. Nat Rev Endocrinol. 2019 Oct; 15(10):590-600. PMID: 31406343.
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    3. Zhou J, Waskowicz LR, Lim A, Liao XH, Lian B, Masamune H, Refetoff S, Tran B, Koeberl DD, Yen PM. A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia. Thyroid. 2019 Aug; 29(8):1158-1167. PMID: 31337282.
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    4. Mimoto MS, Refetoff S. Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations. J Endocrinol Invest. 2019 Jul 27. PMID: 31352644.
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    5. Anselmo J, Scherberg NH, Dumitrescu AM, Refetoff S. Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line. Thyroid. 2019 Jun; 29(6):778-782. PMID: 30938226.
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    6. Watanabe Y, Bruellman RJ, Ebrhim RS, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304. PMID: 30375286.
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    7. Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Jääskeläinen J, Patyra K, Löf C, Williams ED. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight. 2018 10 18; 3(20). PMID: 30333321.
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    8. Ziros PG, Habeos IG, Chartoumpekis DV, Ntalampyra E, Somm E, Renaud CO, Bongiovanni M, Trougakos IP, Yamamoto M, Kensler TW, Santisteban P, Carrasco N, Ris-Stalpers C, Amendola E, Liao XH, Rossich L, Thomasz L, Juvenal GJ, Refetoff S, Sykiotis GP. NFE2-Related Transcription Factor 2 Coordinates Antioxidant Defense with Thyroglobulin Production and Iodination in the Thyroid Gland. Thyroid. 2018 06; 28(6):780-798. PMID: 29742982.
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    9. Mimoto MS, Karaca A, Scherberg N, Dumitrescu AM, Refetoff S. Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid. 2018 06; 28(6):811-814. PMID: 29676214.
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    10. Williams GR, Boelen A, Refetoff S. 13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action. Thyroid. 2018 06; 28(6):690-691. PMID: 29580183.
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    11. Watanabe Y, Sharwood E, Goodwin B, Creech MK, Hassan HY, Netea MG, Jaeger M, Dumitrescu A, Refetoff S, Huynh T, Weiss RE. A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. BMC Med Genet. 2018 05 02; 19(1):69. PMID: 29720101.
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    12. Pappa T, Refetoff S. Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHß). Methods Mol Biol. 2018; 1801:225-240. PMID: 29892828.
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    13. Hönes GS, Rakov H, Logan J, Liao XH, Werbenko E, Pollard AS, Præstholm SM, Siersbæk MS, Rijntjes E, Gassen J, Latteyer S, Engels K, Strucksberg KH, Kleinbongard P, Zwanziger D, Rozman J, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Klein-Hitpass L, Köhrle J, Armstrong DL, Grøntved L, Bassett JHD, Williams GR, Refetoff S, Führer D, Moeller LC. Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo. Proc Natl Acad Sci U S A. 2017 12 26; 114(52):E11323-E11332. PMID: 29229863.
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    14. Kang HS, Kumar D, Liao G, Lichti-Kaiser K, Gerrish K, Liao XH, Refetoff S, Jothi R, Jetten AM. GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation. J Clin Invest. 2017 12 01; 127(12):4326-4337. PMID: 29083325.
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    15. Pappa T, Anselmo J, Mamanasiri S, Dumitrescu AM, Weiss RE, Refetoff S. Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017 10 01; 102(10):3775-3782. PMID: 28938413.
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    16. Hermanns P, Kumorowicz-Czoch M, Grasberger H, Refetoff S, Pohlenz J. Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome. Exp Clin Endocrinol Diabetes. 2018 02; 126(2):85-90. PMID: 28954305.
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    17. Srichomkwun P, Anselmo J, Liao XH, Hönes GS, Moeller LC, Alonso-Sampedro M, Weiss RE, Dumitrescu AM, Refetoff S. Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice. J Clin Endocrinol Metab. 2017 09 01; 102(9):3234-3240. PMID: 28586435.
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    18. Leitch VD, Di Cosmo C, Liao XH, O'Boy S, Galliford TM, Evans H, Croucher PI, Boyde A, Dumitrescu A, Weiss RE, Refetoff S, Williams GR, Bassett JHD. An Essential Physiological Role for MCT8 in Bone in Male Mice. Endocrinology. 2017 09 01; 158(9):3055-3066. PMID: 28637283.
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    19. Flamant F, Cheng SY, Hollenberg AN, Moeller LC, Samarut J, Wondisford FE, Yen PM, Refetoff S. Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature. Endocrinology. 2017 07 01; 158(7):2052-2057. PMID: 28472304.
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    20. Bellelli R, Vitagliano D, Federico G, Marotta P, Tamburrino A, Salerno P, Paciello O, Papparella S, Knauf JA, Fagin JA, Refetoff S, Troncone G, Santoro M. Oncogene-induced senescence and its evasion in a mouse model of thyroid neoplasia. Mol Cell Endocrinol. 2018 01 15; 460:24-35. PMID: 28652169.
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    21. Ohba K, Sinha RA, Singh BK, Iannucci LF, Zhou J, Kovalik JP, Liao XH, Refetoff S, Sng JCG, Leow MK, Yen PM. Changes in Hepatic TRß Protein Expression, Lipogenic Gene Expression, and Long-Chain Acylcarnitine Levels During Chronic Hyperthyroidism and Triiodothyronine Withdrawal in a Mouse Model. Thyroid. 2017 06; 27(6):852-860. PMID: 28457184.
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    22. Vatine GD, Al-Ahmad A, Barriga BK, Svendsen S, Salim A, Garcia L, Garcia VJ, Ho R, Yucer N, Qian T, Lim RG, Wu J, Thompson LM, Spivia WR, Chen Z, Van Eyk J, Palecek SP, Refetoff S, Shusta EV, Svendsen CN. Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier. Cell Stem Cell. 2017 06 01; 20(6):831-843.e5. PMID: 28526555.
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    23. Turgeon MO, Silander TL, Doycheva D, Liao XH, Rigden M, Ongaro L, Zhou X, Joustra SD, Wit JM, Wade MG, Heuer H, Refetoff S, Bernard DJ. TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice. Endocrinology. 2017 04 01; 158(4):815-830. PMID: 28324000.
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    24. Grasberger H, Refetoff S. Resistance to thyrotropin. Best Pract Res Clin Endocrinol Metab. 2017 03; 31(2):183-194. PMID: 28648507.
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    25. Pappa T, Moeller LC, Edidin DV, Pannain S, Refetoff S. A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families. Eur Thyroid J. 2017 Jul; 6(3):138-142. PMID: 28785540.
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    26. Srichomkwun P, Scherberg NH, Jakšic J, Refetoff S. Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies. AACE Clin Case Rep. 2017; 3(1):e22-e25. PMID: 28078322.
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    27. Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S. DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. Thyroid. 2017 01; 27(1):129-131. PMID: 27821020.
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    28. Sriphrapradang C, Srichomkwun P, Refetoff S, Mamanasiri S. A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma. Thyroid. 2016 12; 26(12):1804-1806. PMID: 27758132.
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    29. Eskalli Z, Achouri Y, Hahn S, Many MC, Craps J, Refetoff S, Liao XH, Dumont JE, Van Sande J, Corvilain B, Miot F, De Deken X. Overexpression of Interleukin-4 in the Thyroid of Transgenic Mice Upregulates the Expression of Duox1 and the Anion Transporter Pendrin. Thyroid. 2016 10; 26(10):1499-1512. PMID: 27599561.
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    30. Neamtu C, Tupea C, Paun D, Hoisescu A, Ghemigian A, Refetoff S, Sriphrapradang C. A new TRß mutation in resistance to thyroid hormone syndrome. Hormones (Athens). 2016 Oct; 15(4):534-539. PMID: 28222413.
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    31. Iwayama H, Liao XH, Braun L, Bárez-López S, Kaspar B, Weiss RE, Dumitrescu AM, Guadaño-Ferraz A, Refetoff S. Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice. Thyroid. 2016 09; 26(9):1311-9. PMID: 27432638.
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    32. Srichomkwun P, Admoni O, Refetoff S, de Vries L. A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. Horm Res Paediatr. 2016; 86(2):137-142. PMID: 27207603.
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    33. Villacorte M, Delmarcelle AS, Lernoux M, Bouquet M, Lemoine P, Bolsée J, Umans L, de Sousa Lopes SC, Van Der Smissen P, Sasaki T, Bommer G, Henriet P, Refetoff S, Lemaigre FP, Zwijsen A, Courtoy PJ, Pierreux CE. Thyroid follicle development requires Smad1/5- and endothelial cell-dependent basement membrane assembly. Development. 2016 06 01; 143(11):1958-70. PMID: 27068110.
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    34. Amano I, Takatsuru Y, Toya S, Haijima A, Iwasaki T, Grasberger H, Refetoff S, Koibuchi N. Aberrant Cerebellar Development in Mice Lacking Dual Oxidase Maturation Factors. Thyroid. 2016 05; 26(5):741-52. PMID: 26914863.
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    35. Ohba K, Leow MK, Singh BK, Sinha RA, Lesmana R, Liao XH, Ghosh S, Refetoff S, Sng JC, Yen PM. Desensitization and Incomplete Recovery of Hepatic Target Genes After Chronic Thyroid Hormone Treatment and Withdrawal in Male Adult Mice. Endocrinology. 2016 Apr; 157(4):1660-72. PMID: 26866609.
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    36. Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Rocca CJ, Liao XH, Refetoff S, Pierreux CE, Cherqui S, Courtoy PJ. Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. Endocrinology. 2016 Apr; 157(4):1363-71. PMID: 26812160.
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    37. Leung EK, Yi X, Refetoff S, Yeo KT. Diiodothyropropionic acid (DITPA) cross-reacts with thyroid function assays on different immunoassay platforms. Clin Chim Acta. 2016 Jan 30; 453:203-4. PMID: 26683355.
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    38. Pappa T, Ferrara AM, Refetoff S. Inherited defects of thyroxine-binding proteins. Best Pract Res Clin Endocrinol Metab. 2015 Oct; 29(5):735-47. PMID: 26522458.
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    39. Ferrara AM, Liao XH, Ye H, Weiss RE, Dumitrescu AM, Refetoff S. The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency. Endocrinology. 2015 Nov; 156(11):3889-94. PMID: 26322373.
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    40. Pappa T, Johannesen J, Scherberg N, Torrent M, Dumitrescu A, Refetoff S. A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid. 2015 Aug; 25(8):869-76. PMID: 25950606.
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    41. Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Liao XH, Abid Y, Nevo N, Antignac C, Refetoff S, Cherqui S, Pierreux CE, Courtoy PJ. A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing. Endocrinology. 2015 Jun; 156(6):2349-64. PMID: 25811319.
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    42. Tenenbaum-Rakover Y, Almashanu S, Hess O, Admoni O, Hag-Dahood Mahameed A, Schwartz N, Allon-Shalev S, Bercovich D, Refetoff S. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid. 2015 Mar; 25(3):292-9. PMID: 25557138.
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    43. Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff S. A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81. PMID: 25361180.
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    44. Choudhary A, Sriphrapradang C, Refetoff S, Antal Z. Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading. J Pediatr Endocrinol Metab. 2015 Jan; 28(1-2):241-5. PMID: 25153218.
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    45. López-Espíndola D, Morales-Bastos C, Grijota-Martínez C, Liao XH, Lev D, Sugo E, Verge CF, Refetoff S, Bernal J, Guadaño-Ferraz A. Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination. J Clin Endocrinol Metab. 2014 Dec; 99(12):E2799-804. PMID: 25222753.
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    46. Larsen CC, Karaviti LP, Seghers V, Weiss RE, Refetoff S, Dumitrescu AM. A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. Int J Pediatr Endocrinol. 2014; 2014(1):23. PMID: 25873976.
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    47. Ikegami K, Liao XH, Hoshino Y, Ono H, Ota W, Ito Y, Nishiwaki-Ohkawa T, Sato C, Kitajima K, Iigo M, Shigeyoshi Y, Yamada M, Murata Y, Refetoff S, Yoshimura T. Tissue-specific posttranslational modification allows functional targeting of thyrotropin. Cell Rep. 2014 Nov 06; 9(3):801-10. PMID: 25437536.
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    48. Ferrara AM, Liao XH, Gil-Ibáñez P, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S. Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice. Endocrinology. 2014 Oct; 155(10):4088-93. PMID: 25051435.
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    49. Champa D, Russo MA, Liao XH, Refetoff S, Ghossein RA, Di Cristofano A. Obatoclax overcomes resistance to cell death in aggressive thyroid carcinomas by countering Bcl2a1 and Mcl1 overexpression. Endocr Relat Cancer. 2014 Oct; 21(5):755-67. PMID: 25012986.
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    50. Greenberg SM, Ferrara AM, Nicholas ES, Dumitrescu AM, Cody V, Weiss RE, Refetoff S. A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. Thyroid. 2014 Jun; 24(6):945-50. PMID: 24494774.
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    51. Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid. 2014 Mar; 24(3):407-9. PMID: 24588711.
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    52. Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Eur Thyroid J. 2014 Mar; 3(1):7-9. PMID: 24847459.
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    53. Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. J Clin Endocrinol Metab. 2014 Mar; 99(3):768-70. PMID: 24823702.
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    54. Bianco AC, Anderson G, Forrest D, Galton VA, Gereben B, Kim BW, Kopp PA, Liao XH, Obregon MJ, Peeters RP, Refetoff S, Sharlin DS, Simonides WS, Weiss RE, Williams GR. American Thyroid Association Guide to investigating thyroid hormone economy and action in rodent and cell models. Thyroid. 2014 Jan; 24(1):88-168. PMID: 24001133.
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    55. Rodrigues TB, Ceballos A, Grijota-Martínez C, Nuñez B, Refetoff S, Cerdán S, Morte B, Bernal J. Increased oxidative metabolism and neurotransmitter cycling in the brain of mice lacking the thyroid hormone transporter SLC16A2 (MCT8). PLoS One. 2013; 8(10):e74621. PMID: 24098341.
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    56. Fu J, Refetoff S, Dumitrescu AM. Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings. Curr Opin Endocrinol Diabetes Obes. 2013 Oct; 20(5):434-40. PMID: 23974772.
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    57. Larsen CC, Dumitrescu A, Guerra-Argüero LM, Gállego-Suárez C, Vazquez-Mellado A, Vinogradova M, Fletterick R, Refetoff S, Weiss RE. Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease. Thyroid. 2013 Dec; 23(12):1638-43. PMID: 23806029.
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    58. Di Cosmo C, Liao XH, Ye H, Ferrara AM, Weiss RE, Refetoff S, Dumitrescu AM. Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels. Endocrinology. 2013 Dec; 154(12):4885-95. PMID: 24029243.
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    59. Ferrara AM, Liao XH, Gil-Ibáñez P, Marcinkowski T, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S. Changes in thyroid status during perinatal development of MCT8-deficient male mice. Endocrinology. 2013 Jul; 154(7):2533-41. PMID: 23696569.
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    60. Ferrara AM, Cakir M, Henry PH, Refetoff S. Coexistence of THRB and TBG gene mutations in a Turkish family. J Clin Endocrinol Metab. 2013 Jun; 98(6):E1148-51. PMID: 23633200.
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    61. Ünlütürk U, Sriphrapradang C, Erdogan MF, Emral R, Güldiken S, Refetoff S, Güllü S. Management of differentiated thyroid cancer in the presence of resistance to thyroid hormone and TSH-secreting adenomas: a report of four cases and review of the literature. J Clin Endocrinol Metab. 2013 Jun; 98(6):2210-7. PMID: 23553855.
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    62. Hermanns P, Grasberger H, Cohen R, Freiberg C, Dörr HG, Refetoff S, Pohlenz J. Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms. Thyroid. 2013 Jul; 23(7):791-6. PMID: 23308388.
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    63. Hermanns P, Refetoff S, Sriphrapradang C, Pohlenz J, Okamato J, Slyper L, Slyper AH. A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies. J Pediatr Endocrinol Metab. 2013; 26(1-2):119-23. PMID: 23457313.
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    64. Antonica F, Kasprzyk DF, Opitz R, Iacovino M, Liao XH, Dumitrescu AM, Refetoff S, Peremans K, Manto M, Kyba M, Costagliola S. Generation of functional thyroid from embryonic stem cells. Nature. 2012 Nov 01; 491(7422):66-71. PMID: 23051751.
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    65. Chung S, Liao XH, Di Cosmo C, Van Sande J, Wang Z, Refetoff S, Civelli O. Disruption of the melanin-concentrating hormone receptor 1 (MCH1R) affects thyroid function. Endocrinology. 2012 Dec; 153(12):6145-54. PMID: 23024261.
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    66. Verge CF, Konrad D, Cohen M, Di Cosmo C, Dumitrescu AM, Marcinkowski T, Hameed S, Hamilton J, Weiss RE, Refetoff S. Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab. 2012 Dec; 97(12):4515-23. PMID: 22993035.
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    67. Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013 Jul; 1830(7):3987-4003. PMID: 22986150.
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    68. Plateroti M, Bernal J, Refetoff S, Sachs L. Thyroid hormones and their receptors: from development to disease. J Thyroid Res. 2011; 2011:284737. PMID: 22570805.
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    69. Ozaki T, Matsubara T, Seo D, Okamoto M, Nagashima K, Sasaki Y, Hayase S, Murata T, Liao XH, Hanson J, Rodriguez-Canales J, Thorgeirsson SS, Kakudo K, Refetoff S, Kimura S. Thyroid regeneration: characterization of clear cells after partial thyroidectomy. Endocrinology. 2012 May; 153(5):2514-25. PMID: 22454152.
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    70. Ferrara AM, Onigata K, Ercan O, Woodhead H, Weiss RE, Refetoff S. Homozygous thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. J Clin Endocrinol Metab. 2012 Apr; 97(4):1328-36. PMID: 22319036.
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    71. Sriphrapradang C, German A, Dumitrescu AM, Refetoff S. Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. Thyroid. 2012 Mar; 22(3):252-7. PMID: 22313426.
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    72. Grasberger H, De Deken X, Mayo OB, Raad H, Weiss M, Liao XH, Refetoff S. Mice deficient in dual oxidase maturation factors are severely hypothyroid. Mol Endocrinol. 2012 Mar; 26(3):481-92. PMID: 22301785.
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    73. Ciric I, Zhao JC, Du H, Findling JW, Molitch ME, Weiss RE, Refetoff S, Kerr WD, Meyer J. Transsphenoidal surgery for Cushing disease: experience with 136 patients. Neurosurgery. 2012 Jan; 70(1):70-80; discussion 80-1. PMID: 21772221.
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    74. Antico Arciuch VG, Russo MA, Dima M, Kang KS, Dasrath F, Liao XH, Refetoff S, Montagna C, Di Cristofano A. Thyrocyte-specific inactivation of p53 and Pten results in anaplastic thyroid carcinomas faithfully recapitulating human tumors. Oncotarget. 2011 Dec; 2(12):1109-26. PMID: 22190384.
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    75. Chakravarty D, Santos E, Ryder M, Knauf JA, Liao XH, West BL, Bollag G, Kolesnick R, Thin TH, Rosen N, Zanzonico P, Larson SM, Refetoff S, Ghossein R, Fagin JA. Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activation. J Clin Invest. 2011 Dec; 121(12):4700-11. PMID: 22105174.
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    76. Barca-Mayo O, Liao XH, DiCosmo C, Dumitrescu A, Moreno-Vinasco L, Wade MS, Sammani S, Mirzapoiazova T, Garcia JG, Refetoff S, Weiss RE. Role of type 2 deiodinase in response to acute lung injury (ALI) in mice. Proc Natl Acad Sci U S A. 2011 Dec 06; 108(49):E1321-9. PMID: 22065740.
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    77. Grasberger H, Refetoff S. Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr. 2011 Aug; 23(4):421-8. PMID: 21543982.
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    78. Dumitrescu AM, Refetoff S. Inherited defects of thyroid hormone metabolism. Ann Endocrinol (Paris). 2011 Apr; 72(2):95-8. PMID: 21511232.
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    79. Sriphrapradang C, Tenenbaum-Rakover Y, Weiss M, Barkoff MS, Admoni O, Kawthar D, Caltabiano G, Pardo L, Dumitrescu AM, Refetoff S. The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation. J Clin Endocrinol Metab. 2011 Jun; 96(6):E1001-6. PMID: 21490078.
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    82. Barca-Mayo O, Liao XH, Alonso M, Di Cosmo C, Hernandez A, Refetoff S, Weiss RE. Thyroid hormone receptor a and regulation of type 3 deiodinase. Mol Endocrinol. 2011 Apr; 25(4):575-83. PMID: 21292823.
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    83. Liao XH, Di Cosmo C, Dumitrescu AM, Hernandez A, Van Sande J, St Germain DL, Weiss RE, Galton VA, Refetoff S. Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes. Endocrinology. 2011 Mar; 152(3):1180-91. PMID: 21285310.
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    84. Franco AT, Malaguarnera R, Refetoff S, Liao XH, Lundsmith E, Kimura S, Pritchard C, Marais R, Davies TF, Weinstein LS, Chen M, Rosen N, Ghossein R, Knauf JA, Fagin JA. Thyrotrophin receptor signaling dependence of Braf-induced thyroid tumor initiation in mice. Proc Natl Acad Sci U S A. 2011 Jan 25; 108(4):1615-20. PMID: 21220306.
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    85. Moeller LC, Haselhorst NE, Dumitrescu AM, Cao X, Seo H, Refetoff S, Mann K, Janssen OE. Stanniocalcin 1 induction by thyroid hormone depends on thyroid hormone receptor ß and phosphatidylinositol 3-kinase activation. Exp Clin Endocrinol Diabetes. 2011 Feb; 119(2):81-5. PMID: 20827662.
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    86. Antico-Arciuch VG, Dima M, Liao XH, Refetoff S, Di Cristofano A. Cross-talk between PI3K and estrogen in the mouse thyroid predisposes to the development of follicular carcinomas with a higher incidence in females. Oncogene. 2010 Oct 21; 29(42):5678-86. PMID: 20676139.
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    87. Di Cosmo C, Liao XH, Dumitrescu AM, Philp NJ, Weiss RE, Refetoff S. Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. J Clin Invest. 2010 Sep; 120(9):3377-88. PMID: 20679730.
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    88. Weiss RE, Dumitrescu A, Refetoff S. Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010 Jul; 95(7):3094-102. PMID: 20610605.
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    89. Barkoff MS, Kocherginsky M, Anselmo J, Weiss RE, Refetoff S. Autoimmunity in patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 2010 Jul; 95(7):3189-93. PMID: 20444926.
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    90. Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S. The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20. PMID: 19769464.
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    91. Wang D, Xia X, Weiss RE, Refetoff S, Yen PM. Distinct and histone-specific modifications mediate positive versus negative transcriptional regulation of TSHalpha promoter. PLoS One. 2010 Mar 24; 5(3):e9853. PMID: 20352046.
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    92. Morte B, Ceballos A, Diez D, Grijota-Martínez C, Dumitrescu AM, Di Cosmo C, Galton VA, Refetoff S, Bernal J. Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice. Endocrinology. 2010 May; 151(5):2381-7. PMID: 20211971.
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    93. Gika AD, Siddiqui A, Hulse AJ, Edward S, Fallon P, McEntagart ME, Jan W, Josifova D, Lerman-Sagie T, Drummond J, Thompson E, Refetoff S, Bönnemann CG, Jungbluth H. White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Dev Med Child Neurol. 2010 May; 52(5):475-82. PMID: 19811520.
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    94. Di Cosmo C, McLellan N, Liao XH, Khanna KK, Weiss RE, Papp L, Refetoff S. Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). J Clin Endocrinol Metab. 2009 Oct; 94(10):4003-9. PMID: 19602558.
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    96. Moeller LC, Wardrip C, Niekrasz M, Refetoff S, Weiss RE. Comparison of thyroidectomized calf serum and stripped serum for the study of thyroid hormone action in human skin fibroblasts in vitro. Thyroid. 2009 Jun; 19(6):639-44. PMID: 19445627.
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    97. Alonso M, Goodwin C, Liao X, Ortiga-Carvalho T, Machado DS, Wondisford FE, Refetoff S, Weiss RE. In vivo interaction of steroid receptor coactivator (SRC)-1 and the activation function-2 domain of the thyroid hormone receptor (TR) beta in TRbeta E457A knock-in and SRC-1 knockout mice. Endocrinology. 2009 Aug; 150(8):3927-34. PMID: 19406944.
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    98. Miller KA, Yeager N, Baker K, Liao XH, Refetoff S, Di Cristofano A. Oncogenic Kras requires simultaneous PI3K signaling to induce ERK activation and transform thyroid epithelial cells in vivo. Cancer Res. 2009 Apr 15; 69(8):3689-94. PMID: 19351816.
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    99. Schomburg L, Dumitrescu AM, Liao XH, Bin-Abbas B, Hoeflich J, Köhrle J, Refetoff S. Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid. 2009 Mar; 19(3):277-81. PMID: 19265499.
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    100. Tenenbaum-Rakover Y, Grasberger H, Mamanasiri S, Ringkananont U, Montanelli L, Barkoff MS, Dahood AM, Refetoff S. Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community. J Clin Endocrinol Metab. 2009 May; 94(5):1706-12. PMID: 19240155.
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    101. Kohn B, Grasberger H, Lam LL, Ferrara AM, Refetoff S. A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant. Thyroid. 2009 Feb; 19(2):187-91. PMID: 19191749.
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    102. Ceballos A, Belinchon MM, Sanchez-Mendoza E, Grijota-Martinez C, Dumitrescu AM, Refetoff S, Morte B, Bernal J. Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. Endocrinology. 2009 May; 150(5):2491-6. PMID: 19147674.
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    103. Bayraktaroglu T, Noel J, Alagol F, Colak N, Mukaddes NM, Refetoff S. Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone. Exp Clin Endocrinol Diabetes. 2009 Jan; 117(1):34-7. PMID: 18561095.
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    104. Chester J, Rotenstein D, Ringkananont U, Steuer G, Carlin B, Stewart L, Grasberger H, Refetoff S. Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene. J Pediatr Endocrinol Metab. 2008 May; 21(5):479-86. PMID: 18655531.
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    107. Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab. 2008 Feb; 93(2):605-10. PMID: 18042646.
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    108. Palos F, García-Rendueles ME, Araujo-Vilar D, Obregon MJ, Calvo RM, Cameselle-Teijeiro J, Bravo SB, Perez-Guerra O, Loidi L, Czarnocka B, Alvarez P, Refetoff S, Dominguez-Gerpe L, Alvarez CV, Lado-Abeal J. Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. J Clin Endocrinol Metab. 2008 Jan; 93(1):267-77. PMID: 17940114.
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    109. Bassett JH, Williams AJ, Murphy E, Boyde A, Howell PG, Swinhoe R, Archanco M, Flamant F, Samarut J, Costagliola S, Vassart G, Weiss RE, Refetoff S, Williams GR. A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism. Mol Endocrinol. 2008 Feb; 22(2):501-12. PMID: 17932107.
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    110. Hernandez A, Martinez ME, Liao XH, Van Sande J, Refetoff S, Galton VA, St Germain DL. Type 3 deiodinase deficiency results in functional abnormalities at multiple levels of the thyroid axis. Endocrinology. 2007 Dec; 148(12):5680-7. PMID: 17823249.
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    111. Alonso M, Goodwin C, Liao X, Page D, Refetoff S, Weiss RE. Effects of maternal levels of thyroid hormone (TH) on the hypothalamus-pituitary-thyroid set point: studies in TH receptor beta knockout mice. Endocrinology. 2007 Nov; 148(11):5305-12. PMID: 17690164.
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    114. Grasberger H, Van Sande J, Hag-Dahood Mahameed A, Tenenbaum-Rakover Y, Refetoff S. A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis. J Clin Endocrinol Metab. 2007 Jul; 92(7):2816-20. PMID: 17456567.
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    115. Tenenbaum-Rakover Y, Mamanasiri S, Ris-Stalpers C, German A, Sack J, Allon-Shalev S, Pohlenz J, Refetoff S. Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. Clin Endocrinol (Oxf). 2007 May; 66(5):695-702. PMID: 17381485.
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    116. Grasberger H, De Deken X, Miot F, Pohlenz J, Refetoff S. Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. Mol Endocrinol. 2007 Jun; 21(6):1408-21. PMID: 17374849.
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    117. Dumitrescu AM, Refetoff S. Novel biological and clinical aspects of thyroid hormone metabolism. Endocr Dev. 2007; 10:127-139. PMID: 17684394.
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    118. Flamant F, Baxter JD, Forrest D, Refetoff S, Samuels H, Scanlan TS, Vennström B, Samarut J. International Union of Pharmacology. LIX. The pharmacology and classification of the nuclear receptor superfamily: thyroid hormone receptors. Pharmacol Rev. 2006 Dec; 58(4):705-11. PMID: 17132849.
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    119. Mannavola D, Vannucchi G, Fugazzola L, Cirello V, Campi I, Radetti G, Persani L, Refetoff S, Beck-Peccoz P. TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. J Mol Med (Berl). 2006 Oct; 84(10):864-71. PMID: 16947003.
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    120. Moeller LC, Cao X, Dumitrescu AM, Seo H, Refetoff S. Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor beta through the phosphatidylinositol 3-kinase pathway. Nucl Recept Signal. 2006; 4:e020. PMID: 16862226.
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    121. Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff S. Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 Sep; 91(9):3471-7. PMID: 16804041.
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    122. Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology. 2006 Sep; 147(9):4036-43. PMID: 16709608.
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    123. Grasberger H, Refetoff S. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. J Biol Chem. 2006 Jul 07; 281(27):18269-72. PMID: 16651268.
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    124. Wu SY, Cohen RN, Simsek E, Senses DA, Yar NE, Grasberger H, Noel J, Refetoff S, Weiss RE. 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 hormone. J Clin Endocrinol Metab. 2006 May; 91(5):1887-95. PMID: 16464943.
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    125. Takeuchi Y, Suzuki D, Oda S, Refetoff S, Seki K, Tsunekawa K, Kasahara T, Murakami M, Murata Y. Unique regulation of thyroid hormone metabolism during fasting in the house musk shrew (Suncus murinus, Insectivora: Soricidae). Gen Comp Endocrinol. 2006 May 01; 146(3):236-41. PMID: 16426605.
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    126. Nikrodhanond AA, Ortiga-Carvalho TM, Shibusawa N, Hashimoto K, Liao XH, Refetoff S, Yamada M, Mori M, Wondisford FE. Dominant role of thyrotropin-releasing hormone in the hypothalamic-pituitary-thyroid axis. J Biol Chem. 2006 Feb 24; 281(8):5000-7. PMID: 16339138.
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    127. Ringkananont U, Van Durme J, Montanelli L, Ugrasbul F, Yu YM, Weiss RE, Refetoff S, Grasberger H. Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I). Mol Endocrinol. 2006 Apr; 20(4):893-903. PMID: 16339276.
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    128. Lisi S, Botta R, Pinchera A, Collins AB, Refetoff S, Arvan P, Bu G, Grasso L, Marshansky V, Bechoua S, Hurtado-Lorenzo A, Marcocci C, Brown D, McCluskey RT, Marinò M. Defective thyroglobulin storage in LDL receptor-associated protein-deficient mice. Am J Physiol Cell Physiol. 2006 Apr; 290(4):C1160-7. PMID: 16306127.
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    129. Qin K, Ehrmann DA, Cox N, Refetoff S, Rosenfield RL. Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome. J Clin Endocrinol Metab. 2006 Jan; 91(1):270-6. PMID: 16263811.
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    131. McDermott JH, Agha A, McMahon M, Gasparro D, Moeller L, Dumitrescu AM, Refetoff S, Sreenan S. A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta. Ir J Med Sci. 2005 Oct-Dec; 174(4):60-4. PMID: 16445164.
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    132. Grasberger H, Vaxillaire M, Pannain S, Beck JC, Mimouni-Bloch A, Vatin V, Vassart G, Froguel P, Refetoff S. Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. Hum Genet. 2005 Dec; 118(3-4):348-55. PMID: 16189712.
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    133. Ortiga-Carvalho TM, Shibusawa N, Nikrodhanond A, Oliveira KJ, Machado DS, Liao XH, Cohen RN, Refetoff S, Wondisford FE. Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface. J Clin Invest. 2005 Sep; 115(9):2517-23. PMID: 16100573.
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    134. Wu SY, Sadow PM, Refetoff S, Weiss RE. 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). J Lab Clin Med. 2005 Aug; 146(2):85-94. PMID: 16099238.
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    135. Moeller LC, Dumitrescu AM, Refetoff S. Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes. Mol Endocrinol. 2005 Dec; 19(12):2955-63. PMID: 16051672.
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    136. Grasberger H, Ringkananont U, Croxson M, Refetoff S. Resistance to thyroid hormone in a patient with thyroid dysgenesis. Thyroid. 2005 Jul; 15(7):730-3. PMID: 16053391.
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    137. Knauf JA, Ma X, Smith EP, Zhang L, Mitsutake N, Liao XH, Refetoff S, Nikiforov YE, Fagin JA. Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation. Cancer Res. 2005 May 15; 65(10):4238-45. PMID: 15899815.
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    138. Grasberger H, Mimouni-Bloch A, Vantyghem MC, van Vliet G, Abramowicz M, Metzger DL, Abdullatif H, Rydlewski C, Macchia PE, Scherberg NH, van Sande J, Mimouni M, Weiss RE, Vassart G, Refetoff S. Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci. J Clin Endocrinol Metab. 2005 Jul; 90(7):4025-34. PMID: 15870119.
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    139. Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol. 2005 Jun; 252(6):663-6. PMID: 15834651.
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    140. Aksoy DY, Gurlek A, Ringkananont U, Weiss RE, Refetoff S. Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family. J Endocrinol Invest. 2005 Apr; 28(4):379-83. PMID: 15966514.
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    141. Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol Endocrinol. 2005 Jul; 19(7):1779-91. PMID: 15718293.
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    142. Lado-Abeal J, Dumitrescu AM, Liao XH, Cohen RN, Pohlenz J, Weiss RE, Lebrethon MC, Verloes A, Refetoff S. A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab. 2005 Mar; 90(3):1760-7. PMID: 15598685.
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    143. Kim J, Reutrakul S, Davis DB, Kaplan EL, Refetoff S. Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess. Eur J Endocrinol. 2004 Dec; 151(6):771-7. PMID: 15588245.
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    144. Moeller LC, Dumitrescu AM, Walker RL, Meltzer PS, Refetoff S. Thyroid hormone responsive genes in cultured human fibroblasts. J Clin Endocrinol Metab. 2005 Feb; 90(2):936-43. PMID: 15507505.
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    145. Cao X, Kambe F, Moeller LC, Refetoff S, Seo H. Thyroid hormone induces rapid activation of Akt/protein kinase B-mammalian target of rapamycin-p70S6K cascade through phosphatidylinositol 3-kinase in human fibroblasts. Mol Endocrinol. 2005 Jan; 19(1):102-12. PMID: 15388791.
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    146. Costagliola S, Bonomi M, Morgenthaler NG, Van Durme J, Panneels V, Refetoff S, Vassart G. Delineation of the discontinuous-conformational epitope of a monoclonal antibody displaying full in vitro and in vivo thyrotropin activity. Mol Endocrinol. 2004 Dec; 18(12):3020-34. PMID: 15319453.
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    147. Anselmo J, Cao D, Karrison T, Weiss RE, Refetoff S. Fetal loss associated with excess thyroid hormone exposure. JAMA. 2004 Aug 11; 292(6):691-5. PMID: 15304465.
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    148. Borck G, Topaloglu AK, Korsch E, Martiné U, Wildhardt G, Onenli-Mungan N, Yuksel B, Aumann U, Koch G, Ozer G, Pfäffle R, Scherberg NH, Refetoff S, Pohlenz J. Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. J Clin Endocrinol Metab. 2004 Aug; 89(8):4136-41. PMID: 15292359.
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    149. Bereket A, Liao XH, Turoglu T, Aribal E, Refetoff S. Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter. J Pediatr Endocrinol Metab. 2004 Jul; 17(7):1021-9. PMID: 15301052.
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    150. Fingerhut A, Reutrakul S, Knuedeler SD, Moeller LC, Greenlee C, Refetoff S, Janssen OE. Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide. J Clin Endocrinol Metab. 2004 May; 89(5):2477-83. PMID: 15126580.
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    151. Reutrakul S, Hathout EH, Janner D, Hara M, Donfack J, Bass J, Refetoff S. Familial juvenile autoimmune hypothyroidism, pituitary enlargement, obesity, and insulin resistance. Thyroid. 2004 Apr; 14(4):311-9. PMID: 15142366.
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    152. Mannavola D, Moeller LC, Beck-Peccoz P, Persani L, Weiss RE, Refetoff S. A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1). J Endocrinol Invest. 2004 Apr; 27(4):318-22. PMID: 15233549.
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    153. Mizuno Y, Kanou Y, Rogatcheva M, Imai T, Refetoff S, Seo H, Murata Y. Genomic organization of mouse ZAKI-4 gene that encodes ZAKI-4 alpha and beta isoforms, endogenous calcineurin inhibitors, and changes in the expression of these isoforms by thyroid hormone in adult mouse brain and heart. Eur J Endocrinol. 2004 Mar; 150(3):371-80. PMID: 15012624.
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    154. Anselmo J, Refetoff S. Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid. 2004 Jan; 14(1):71-4. PMID: 15009917.
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    155. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004 Jan; 74(1):168-75. PMID: 14661163.
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    156. Lisi S, Pinchera A, McCluskey RT, Willnow TE, Refetoff S, Marcocci C, Vitti P, Menconi F, Grasso L, Luchetti F, Collins AB, Marino M. Preferential megalin-mediated transcytosis of low-hormonogenic thyroglobulin: a control mechanism for thyroid hormone release. Proc Natl Acad Sci U S A. 2003 Dec 09; 100(25):14858-63. PMID: 14657389.
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    157. Narendran P, Lado-Abeal J, Moeller LC, Refetoff S. Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene. Clin Endocrinol (Oxf). 2003 Dec; 59(6):824-5. PMID: 14974930.
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    158. Tonacchera M, Agretti P, de Marco G, Elisei R, Perri A, Ambrogini E, De Servi M, Ceccarelli C, Viacava P, Refetoff S, Panunzi C, Bitti ML, Vitti P, Chiovato L, Pinchera A. Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. Clin Endocrinol (Oxf). 2003 Oct; 59(4):500-6. PMID: 14510914.
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    159. Moeller LC, Kimura S, Kusakabe T, Liao XH, Van Sande J, Refetoff S. Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor. Mol Endocrinol. 2003 Nov; 17(11):2295-302. PMID: 12907760.
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    160. Shibusawa N, Hashimoto K, Nikrodhanond AA, Liberman MC, Applebury ML, Liao XH, Robbins JT, Refetoff S, Cohen RN, Wondisford FE. Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo. J Clin Invest. 2003 Aug; 112(4):588-97. PMID: 12925699.
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    161. Refetoff S. The syndrome of resistance to thyroid stimulating hormone. J Chin Med Assoc. 2003 Aug; 66(8):441-52. PMID: 14604307.
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    163. Lado-Abeal J, Molinaro E, DeValk E, Pacini F, Refetoff S. The effect of short-term treatment with recombinant human thyroid-stimulating hormones on leydig cell function in men. Thyroid. 2003 Jul; 13(7):649-52. PMID: 12964970.
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    164. Yen PM, Feng X, Flamant F, Chen Y, Walker RL, Weiss RE, Chassande O, Samarut J, Refetoff S, Meltzer PS. Effects of ligand and thyroid hormone receptor isoforms on hepatic gene expression profiles of thyroid hormone receptor knockout mice. EMBO Rep. 2003 Jun; 4(6):581-7. PMID: 12776178.
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    165. Matalon ST, Blank M, Levy Y, Carp HJ, Arad A, Burek L, Grunebaum E, Sherer Y, Ornoy A, Refetoff S, Weiss RE, Rose NR, Shoenfeld Y. The pathogenic role of anti-thyroglobulin antibody on pregnancy: evidence from an active immunization model in mice. Hum Reprod. 2003 May; 18(5):1094-9. PMID: 12721190.
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    166. Ishay A, Dumitrescu A, Luboshitzky R, Rakover Y, Refetoff S. A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child. Thyroid. 2003 Apr; 13(4):409-12. PMID: 12804112.
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    167. Refetoff S. Resistance to thyroid hormone with and without receptor gene mutations. Ann Endocrinol (Paris). 2003 Feb; 64(1):23-5. PMID: 12707628.
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    168. Macchia PE, Jiang P, Yuan YD, Chandarardna RA, Weiss RE, Chassande O, Samarut J, Refetoff S, Burant CF. RXR receptor agonist suppression of thyroid function: central effects in the absence of thyroid hormone receptor. Am J Physiol Endocrinol Metab. 2002 Aug; 283(2):E326-31. PMID: 12110538.
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    169. Rogatcheva M, Hayashi Y, Oda S, Seo H, Cua K, Refetoff S, Murakami M, Mori M, Murata Y. Type 1 iodothyronine deiodinase in the house musk shrew (Suncus murinus, Insectivora: Soricidae): cloning and characterization of complementary DNA, unique tissue distribution and regulation by T(3). Gen Comp Endocrinol. 2002 Jun 01; 127(1):48-58. PMID: 12161201.
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    170. Takeuchi Y, Murata Y, Sadow P, Hayashi Y, Seo H, Xu J, O'Malley BW, Weiss RE, Refetoff S. Steroid receptor coactivator-1 deficiency causes variable alterations in the modulation of T(3)-regulated transcription of genes in vivo. Endocrinology. 2002 Apr; 143(4):1346-52. PMID: 11897691.
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    171. Weiss RE, Gehin M, Xu J, Sadow PM, O'Malley BW, Chambon P, Refetoff S. Thyroid function in mice with compound heterozygous and homozygous disruptions of SRC-1 and TIF-2 coactivators: evidence for haploinsufficiency. Endocrinology. 2002 Apr; 143(4):1554-7. PMID: 11897715.
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    172. Takeuchi Y, Murata Y, Sadow P, Hayashi Y, Seo H, Xu J, O'Malley BW, Weiss RE, Refetoff S. Steroid Receptor Coactivator-1 Deficiency Causes Variable Alterations in the Modulation of T3-Regulated Transcription of Genes in Vivo. Endocrinology. 2002 Apr 01; 143(4):1346-1352. PMID: 28201486.
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    173. Reutrakul S, Dumitrescu A, Macchia PE, Moll GW, Vierhapper H, Refetoff S. Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping. J Clin Endocrinol Metab. 2002 Mar; 87(3):1045-51. PMID: 11889160.
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    174. Janssen OE, Golcher HM, Grasberger H, Saller B, Mann K, Refetoff S. Characterization of T(4)-binding globulin cleaved by human leukocyte elastase. J Clin Endocrinol Metab. 2002 Mar; 87(3):1217-22. PMID: 11889191.
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    175. Pohlenz J, Dumitrescu A, Zundel D, Martiné U, Schönberger W, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002 Feb; 109(4):469-73. PMID: 11854318.
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    176. Janssen OE, Lahner H, Grasberger H, Spring SA, Saller B, Mann K, Refetoff S, Einspanier R. Characterization and primary structures of bovine and porcine thyroxine-binding globulin. Mol Cell Endocrinol. 2002 Jan 15; 186(1):27-35. PMID: 11850119.
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    177. Weiss RE, Chassande O, Koo EK, Macchia PE, Cua K, Samarut J, Refetoff S, Refetoff S. Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes. J Endocrinol. 2002 Jan; 172(1):177-85. PMID: 11786385.
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    178. Pohlenz J, Dumitrescu A, Aumann U, Koch G, Melchior R, Prawitt D, Refetoff S. Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. J Clin Endocrinol Metab. 2002 Jan; 87(1):336-9. PMID: 11788671.
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    179. Clément S, Refetoff S, Robaye B, Dumont JE, Schurmans S. Low TSH requirement and goiter in transgenic mice overexpressing IGF-I and IGF-Ir receptor in the thyroid gland. Endocrinology. 2001 Dec; 142(12):5131-9. PMID: 11713206.
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    180. Pohlenz J, Sadow PM, Koffler T, Schönberger W, Weiss RE, Refetoff S. Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. J Pediatr. 2001 Dec; 139(6):887-91. PMID: 11743520.
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    181. Reutrakul S, Janssen OE, Refetoff S. Three novel mutations causing complete T(4)-binding globulin deficiency. J Clin Endocrinol Metab. 2001 Oct; 86(10):5039-44. PMID: 11600582.
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    182. Ando S, Sarlis NJ, Krishnan J, Feng X, Refetoff S, Zhang MQ, Oldfield EH, Yen PM. Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance. Mol Endocrinol. 2001 Sep; 15(9):1529-38. PMID: 11518802.
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    183. Anselmo J, Kay T, Dennis K, Szmulewitz R, Refetoff S, Weiss RE. Resistance to thyroid hormone does not abrogate the transient thyrotoxicosis associated with gestation: report of a case. J Clin Endocrinol Metab. 2001 Sep; 86(9):4273-5. PMID: 11549661.
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    184. Gauthier K, Plateroti M, Harvey CB, Williams GR, Weiss RE, Refetoff S, Willott JF, Sundin V, Roux JP, Malaval L, Hara M, Samarut J, Chassande O. Genetic analysis reveals different functions for the products of the thyroid hormone receptor alpha locus. Mol Cell Biol. 2001 Jul; 21(14):4748-60. PMID: 11416150.
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    185. Tonacchera M, Agretti P, Ceccarini G, Lenza R, Refetoff S, Santini F, Pinchera A, Chiovato L, Vitti P. Autoantibodies from patients with autoimmune thyroid disease do not interfere with the activity of the human iodide symporter gene stably transfected in CHO cells. Eur J Endocrinol. 2001 Jun; 144(6):611-8. PMID: 11375795.
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    186. Macchia PE, Takeuchi Y, Kawai T, Cua K, Gauthier K, Chassande O, Seo H, Hayashi Y, Samarut J, Murata Y, Weiss RE, Refetoff S. Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha. Proc Natl Acad Sci U S A. 2001 Jan 02; 98(1):349-54. PMID: 11120878.
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    187. Kaneshige M, Kaneshige K, Zhu X, Dace A, Garrett L, Carter TA, Kazlauskaite R, Pankratz DG, Wynshaw-Boris A, Refetoff S, Weintraub B, Willingham MC, Barlow C, Cheng S. Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone. Proc Natl Acad Sci U S A. 2000 Nov 21; 97(24):13209-14. PMID: 11069286.
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    188. Reutrakul S, Sadow PM, Pannain S, Pohlenz J, Carvalho GA, Macchia PE, Weiss RE, Refetoff S. Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. J Clin Endocrinol Metab. 2000 Oct; 85(10):3609-17. PMID: 11061510.
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    189. Pannain S, Feldman M, Eiholzer U, Weiss RE, Scherberg NH, Refetoff S. Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine. J Clin Endocrinol Metab. 2000 Aug; 85(8):2786-92. PMID: 10946882.
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    190. Pohlenz J, Duprez L, Weiss RE, Vassart G, Refetoff S, Costagliola S. Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters. J Clin Endocrinol Metab. 2000 Jul; 85(7):2366-9. PMID: 10902780.
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    191. Heinrichs C, Parma J, Scherberg NH, Delange F, Van Vliet G, Duprez L, Bourdoux P, Bergmann P, Vassart G, Refetoff S. Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene. Thyroid. 2000 May; 10(5):387-91. PMID: 10884185.
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    192. Costagliola S, Many MC, Denef JF, Pohlenz J, Refetoff S, Vassart G. Genetic immunization of outbred mice with thyrotropin receptor cDNA provides a model of Graves' disease. J Clin Invest. 2000 Mar; 105(6):803-11. PMID: 10727449.
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    193. Janssen OE, Astner ST, Grasberger H, Gunn SK, Refetoff S. Identification of thyroxine-binding globulin-San Diego in a family from Houston and its characterization by in vitro expression using Xenopus oocytes. J Clin Endocrinol Metab. 2000 Jan; 85(1):368-72. PMID: 10634412.
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    194. Weiss RE, Refetoff S. Resistance to thyroid hormone. Rev Endocr Metab Disord. 2000 Jan; 1(1-2):97-108. PMID: 11704998.
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    195. Gavrilova O, Leon LR, Marcus-Samuels B, Mason MM, Castle AL, Refetoff S, Vinson C, Reitman ML. Torpor in mice is induced by both leptin-dependent and -independent mechanisms. Proc Natl Acad Sci U S A. 1999 Dec 07; 96(25):14623-8. PMID: 10588755.
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    196. Pohlenz J, Manders L, Sadow PM, Kansal PC, Refetoff S, Weiss RE. A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone. Thyroid. 1999 Dec; 9(12):1195-203. PMID: 10646658.
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    197. Pohlenz J, Maqueem A, Cua K, Weiss RE, Van Sande J, Refetoff S. Improved radioimmunoassay for measurement of mouse thyrotropin in serum: strain differences in thyrotropin concentration and thyrotroph sensitivity to thyroid hormone. Thyroid. 1999 Dec; 9(12):1265-71. PMID: 10646670.
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    198. Pohlenz J, Weiss RE, Macchia PE, Pannain S, Lau IT, Ho H, Refetoff S. Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1999 Nov; 84(11):3919-28. PMID: 10566629.
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    199. Costagliola S, Sunthorntepvarakul T, Migeotte I, Van Sande J, Kajava AM, Refetoff S, Vassart G. Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene. Thyroid. 1999 Oct; 9(10):995-1000. PMID: 10560953.
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    200. Pohlenz J, Schönberger W, Koffler T, Refetoff S. Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene. Thyroid. 1999 Oct; 9(10):1001-4. PMID: 10560954.
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    201. Tiosano D, Pannain S, Vassart G, Parma J, Gershoni-Baruch R, Mandel H, Lotan R, Zaharan Y, Pery M, Weiss RE, Refetoff S, Hochberg Z. The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor. Thyroid. 1999 Sep; 9(9):887-94. PMID: 10524567.
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    202. Menjo M, Yamaguchi S, Murata Y, Hayashi Y, Nagaya T, Ohmori S, Refetoff S, Seo H. Responsiveness to thyroid hormone is enhanced in rat hepatocytes cultured as spheroids compared with that in monolayers: altered responsiveness to thyroid hormone possibly involves complex formed on thyroid hormone response elements. Thyroid. 1999 Sep; 9(9):959-67. PMID: 10524577.
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    203. Pohlenz J, Refetoff S. Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism. Biochimie. 1999 May; 81(5):469-76. PMID: 10403177.
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    204. 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 Apr 01; 18(7):1900-4. PMID: 10202153.
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    205. Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J Clin Endocrinol Metab. 1999 Mar; 84(3):1061-71. PMID: 10084596.
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    206. Weiss RE, Refetoff S. Treatment of resistance to thyroid hormone--primum non nocere. J Clin Endocrinol Metab. 1999 Feb; 84(2):401-4. PMID: 10022391.
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    207. Weiss RE, Murata Y, Cua K, Hayashi Y, Seo H, Refetoff S. Thyroid hormone action on liver, heart, and energy expenditure in thyroid hormone receptor beta-deficient mice. Endocrinology. 1998 Dec; 139(12):4945-52. PMID: 9832432.
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    208. Weiss RE, Murata Y, Cua K, Hayashi Y, Seo H, Refetoff S. Thyroid Hormone Action on Liver, Heart, and Energy Expenditure in Thyroid Hormone Receptor ß-Deficient Mice* * Presented in part at the 69th Annual Meeting of the American Thyroid Association Meeting, November 14-17, 1996, San Diego, California. This study was supported in part by the National Institutes of Health Grant DK-17050 and the Seymour J. Abrams Thyroid Research Center; a grant from the Ministry of Health and Welfare, Japan (to H.S.); and Grant-in-Aid for Scientific Research (09671044) from the Ministry of Education, Science and Culture of Japan. Endocrinology. 1998 Dec 01; 139(12):4945-4952. PMID: 28204239.
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    209. Mohammed IA, Aldasouqi S, Schnute R, Refetoff S, Weiss RE, Iqbal N. The syndrome of resistance to thyroid hormone, misdiagnosed and treated as thyrotoxicosis. Endocr Pract. 1998 Nov-Dec; 4(6):391-5. PMID: 15251715.
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    210. Carvalho GA, Weiss RE, Refetoff S. Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). J Clin Endocrinol Metab. 1998 Oct; 83(10):3604-8. PMID: 9768672.
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    211. Sunthornthepvarakul T, Likitmaskul S, Ngowngarmratana S, Angsusingha K, Kitvitayasak S, Scherberg NH, Refetoff S. Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. J Clin Endocrinol Metab. 1998 May; 83(5):1448-54. PMID: 9589637.
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    212. Hayashi Y, Xie J, Weiss RE, Pohlenz J, Refetoff S. Selective pituitary resistance to thyroid hormone produced by expression of a mutant thyroid hormone receptor beta gene in the pituitary gland of transgenic mice. Biochem Biophys Res Commun. 1998 Apr 07; 245(1):204-10. PMID: 9535809.
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    213. Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S. Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. J Clin Invest. 1998 Mar 01; 101(5):1028-35. PMID: 9486973.
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    214. Carvalho GA, Weiss RE, Vladutiu AO, Refetoff S. Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. Thyroid. 1998 Feb; 8(2):161-5. PMID: 9510125.
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    215. Sunthornthepvarakul T, Angsusingha K, Likitmaskul S, Ngowngarmratana S, Refetoff S. Mutation in the thyroid hormone receptor beta gene (A317T) in a Thai subject with resistance to thyroid hormone. Thyroid. 1997 Dec; 7(6):905-7. PMID: 9459636.
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    216. Xie J, Pannain S, Pohlenz J, Weiss RE, Moltz K, Morlot M, Asteria C, Persani L, Beck-Peccoz P, Parma J, Vassart G, Refetoff S. Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. J Clin Endocrinol Metab. 1997 Dec; 82(12):3933-40. PMID: 9398691.
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    217. Pohlenz J, Medeiros-Neto G, Gross JL, Silveiro SP, Knobel M, Refetoff S. Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. Biochem Biophys Res Commun. 1997 Nov 17; 240(2):488-91. PMID: 9388506.
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    218. Nagashima T, Yagi H, Nagashima K, Sakurai A, Onigata K, Nomura Y, Morikawa A, Matazow G, Couch RM, Weiss RE, Refetoff S. A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone. Thyroid. 1997 Oct; 7(5):771-3. PMID: 9349582.
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    219. Weiss RE, Forrest D, Pohlenz J, Cua K, Curran T, Refetoff S. Thyrotropin regulation by thyroid hormone in thyroid hormone receptor beta-deficient mice. Endocrinology. 1997 Sep; 138(9):3624-9. PMID: 9275045.
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    220. Hayashi Y, Yamaguchi S, Pohlenz J, Murata Y, Refetoff S, Seo H. Modification of thyroid hormone and 9-cis retinoic acid signaling by overexpression of their cognate receptors using adenoviral vector. Mol Cell Endocrinol. 1997 Jul 04; 131(1):59-66. PMID: 9256364.
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    221. Sreenan S, Caro JF, Refetoff S. Thyroid dysfunction is not associated with alterations in serum leptin levels. Thyroid. 1997 Jun; 7(3):407-9. PMID: 9226211.
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    222. Weiss RE, Stein MA, Refetoff S. Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone. Thyroid. 1997 Jun; 7(3):389-93. PMID: 9226208.
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    223. Abramowicz MJ, Vassart G, Refetoff S. Probing the cause of thyroid dysgenesis. Thyroid. 1997 Jun; 7(3):325-6. PMID: 9226198.
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    224. Yagi H, Pohlenz J, Hayashi Y, Sakurai A, Refetoff S. Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity. J Clin Endocrinol Metab. 1997 May; 82(5):1608-14. PMID: 9141558.
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    225. Weiss RE, Tunca H, Knapple WL, Faas FH, Refetoff S. Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C). Thyroid. 1997 Feb; 7(1):35-8. PMID: 9086567.
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    226. Refetoff S. Resistance to thyroid hormone. Curr Ther Endocrinol Metab. 1997; 6:132-4. PMID: 9174721.
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    227. Refetoff S, Tunca H, Wilansky DL, Mussey VC, Weiss RE. Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH). Thyroid. 1996 Dec; 6(6):571-3. PMID: 9001191.
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    228. Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, Tunca H, Seo H, Refetoff S. 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. J Clin Endocrinol Metab. 1996 Dec; 81(12):4196-203. PMID: 8954015.
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    229. Ghazi AA, Refetoff S. Evaluation of pituitary and peripheral tissue markers of thyroid hormone action in an Iranian family with resistance to thyroid hormone. Thyroid. 1996 Dec; 6(6):589-93. PMID: 9001193.
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    230. Rosenthal IM, Refetoff S, Rich B, Barnes RB, Sunthornthepvarakul T, Parma J, Rosenfield RL. Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study. J Clin Endocrinol Metab. 1996 Oct; 81(10):3802-6. PMID: 8855841.
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    231. Weiss RE, Refetoff S. Effect of thyroid hormone on growth. Lessons from the syndrome of resistance to thyroid hormone. Endocrinol Metab Clin North Am. 1996 Sep; 25(3):719-30. PMID: 8879995.
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    232. Refetoff S, Marinov VS, Tunca H, Byrne MM, Sunthornthepvarakul T, Weiss RE. A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. J Clin Endocrinol Metab. 1996 Sep; 81(9):3335-40. PMID: 8784093.
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    233. Weiss RE, Tunca H, Gerstein HC, Refetoff S. A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH). Thyroid. 1996 Aug; 6(4):311-2. PMID: 8875752.
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    234. Tonacchera M, Cetani F, Costagliola S, Van Sande J, Refetoff S, Vassart G. Functional characteristics of a variant thyrotropin receptor. Eur J Biochem. 1996 Jun 01; 238(2):490-4. PMID: 8681963.
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    235. Hidaka Y, Hayashi Y, Fisfalen ME, Suzuki S, Takeda T, Refetoff S, DeGroot LJ. Expression of thyroid peroxidase in EBV-transformed B cell lines using adenovirus. Thyroid. 1996 Feb; 6(1):23-8. PMID: 8777380.
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    236. Hayashi Y, Mangoura D, Refetoff S. A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor. Mol Endocrinol. 1996 Jan; 10(1):100-6. PMID: 8838149.
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    237. Refetoff S, Sunthornthepvarakul T, Gottschalk ME, Hayashi Y. Resistance to thyrotropin and other abnormalities of the thyrotropin receptor. Recent Prog Horm Res. 1996; 51:97-120; discussion 120-2. PMID: 8701094.
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    238. Refetoff S, Murata Y, Mori Y, Janssen OE, Takeda K, Hayashi Y. Thyroxine-binding globulin: organization of the gene and variants. Horm Res. 1996; 45(3-5):128-38. PMID: 8964571.
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    239. Frank SA, Roland DC, Sturis J, Byrne MM, Refetoff S, Polonsky KS, Van Cauter E. Effects of aging on glucose regulation during wakefulness and sleep. Am J Physiol. 1995 Dec; 269(6 Pt 1):E1006-16. PMID: 8572190.
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    240. Stein MA, Weiss RE, Refetoff S. Neurocognitive characteristics of individuals with resistance to thyroid hormone: comparisons with individuals with attention-deficit hyperactivity disorder. J Dev Behav Pediatr. 1995 Dec; 16(6):406-11. PMID: 8746549.
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    241. Macchia PE, Harrison HH, Scherberg NH, Sunthornthepfvarakul T, Jaeken J, Refetoff S. Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. J Clin Endocrinol Metab. 1995 Dec; 80(12):3744-9. PMID: 8530628.
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    242. Janssen OE, Chen B, Büttner C, Refetoff S, Scriba PC. Molecular and structural characterization of the heat-resistant thyroxine-binding globulin-Chicago. J Biol Chem. 1995 Nov 24; 270(47):28234-8. PMID: 7499319.
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    243. Hayashi Y, Weiss RE, Sarne DH, Yen PM, Sunthornthepvarakul T, Marcocci C, Chin WW, Refetoff S. Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? J Clin Endocrinol Metab. 1995 Nov; 80(11):3246-56. PMID: 7593433.
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    244. Hershkovitz E, Leiberman E, Refetoff S, Pilpell D, Phillip M. High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel. Isr J Med Sci. 1995 Aug; 31(8):500-2. PMID: 7635701.
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    245. Eggerickx D, Denef JF, Labbe O, Hayashi Y, Refetoff S, Vassart G, Parmentier M, Libert F. Molecular cloning of an orphan G-protein-coupled receptor that constitutively activates adenylate cyclase. Biochem J. 1995 Aug 01; 309 ( Pt 3):837-43. PMID: 7639700.
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    246. Yen PM, Wilcox EC, Hayashi Y, Refetoff S, Chin WW. Studies on the repression of basal transcription (silencing) by artificial and natural human thyroid hormone receptor-beta mutants. Endocrinology. 1995 Jul; 136(7):2845-51. PMID: 7789309.
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    247. Bergmann BM, Gilliland MA, Balzano S, Refetoff S, Rechtschaffen A. Sleep deprivation in the rat: XIX. Effects of thyroxine administration. Sleep. 1995 Jun; 18(5):317-24. PMID: 7676163.
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    248. Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 1995 01 19; 332(3):155-60. PMID: 7528344.
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    249. Weiss RE, Sunthornthepvarakul T, Angkeow P, Marcus-Bagley D, Cox N, Alper CA, Refetoff S. Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. J Clin Endocrinol Metab. 1995 Jan; 80(1):116-21. PMID: 7829599.
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    250. Hayashi Y, DePaoli AM, Burant CF, Refetoff S. Expression of a thyroid hormone-responsive recombinant gene introduced into adult mice livers by replication-defective adenovirus can be regulated by endogenous thyroid hormone receptor. J Biol Chem. 1994 Sep 30; 269(39):23872-5. PMID: 7929032.
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    251. Hayashi Y, Sunthornthepvarakul T, Refetoff S. Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone. J Clin Invest. 1994 Aug; 94(2):607-15. PMID: 8040316.
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    252. Sunthornthepvarakul T, Angkeow P, Weiss RE, Hayashi Y, Refetoff S. An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. Biochem Biophys Res Commun. 1994 Jul 29; 202(2):781-7. PMID: 8048949.
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    253. Van Reeth O, Sturis J, Byrne MM, Blackman JD, L'Hermite-Balériaux M, Leproult R, Oliner C, Refetoff S, Turek FW, Van Cauter E. Nocturnal exercise phase delays circadian rhythms of melatonin and thyrotropin secretion in normal men. Am J Physiol. 1994 Jun; 266(6 Pt 1):E964-74. PMID: 8023928.
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    254. Van Cauter E, Sturis J, Byrne MM, Blackman JD, Leproult R, Ofek G, L'Hermite-Balériaux M, Refetoff S, Turek FW, Van Reeth O. Demonstration of rapid light-induced advances and delays of the human circadian clock using hormonal phase markers. Am J Physiol. 1994 Jun; 266(6 Pt 1):E953-63. PMID: 8023927.
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    255. Weiss RE, Stein MA, Duck SC, Chyna B, Phillips W, O'Brien T, Gutermuth L, Refetoff S. Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1994 Jun; 78(6):1525-8. PMID: 8200958.
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    256. Weiss RE, Chyna B, Duell PB, Hayashi Y, Sunthornthepvarakul T, Refetoff S. A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. J Clin Endocrinol Metab. 1994 May; 78(5):1253-6. PMID: 8175986.
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    258. Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD. Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom. J Clin Endocrinol Metab. 1994 Apr; 78(4):990-3. PMID: 8157732.
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    259. Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD. Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK. Eur J Endocrinol. 1994 Apr; 130(4):426-8. PMID: 8162176.
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    261. Takeda K, Iyota K, Mori Y, Tamura Y, Suehiro T, Kubo Y, Refetoff S, Hashimoto K. Gene screening in Japanese families with complete deficiency of thyroxine-binding globulin demonstrates that a nucleotide deletion at codon 352 may be a race specific mutation. Clin Endocrinol (Oxf). 1994 Feb; 40(2):221-6. PMID: 8137521.
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    263. Refetoff S. How clinical observations of a congenital disease can be translated in terms of molecular biology. Perspect Biol Med. 1994; 37(3):315-26. PMID: 8202340.
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    265. Refetoff S, Weiss RE, Wing JR, Sarne D, Chyna B, Hayashi Y. Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine. Thyroid. 1994; 4(3):249-54. PMID: 7833659.
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    266. Refetoff S. Resistance to thyroid hormone: an historical overview. Thyroid. 1994; 4(3):345-9. PMID: 7833674.
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    268. Sunthornthepvarakul T, Hayashi Y, Refetoff S. Polymorphism of a variant human thyrotropin receptor (hTSHR) gene. Thyroid. 1994; 4(2):147-9. PMID: 7919995.
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    269. Weiss RE, Stein MA, Trommer B, Refetoff S. Attention-deficit hyperactivity disorder and thyroid function. J Pediatr. 1993 Oct; 123(4):539-45. PMID: 8410504.
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    272. Weiss RE, Weinberg M, Refetoff S. Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. J Clin Invest. 1993 Jun; 91(6):2408-15. PMID: 8514853.
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    273. Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev. 1993 Jun; 14(3):348-99. PMID: 8319599.
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    274. Weiss RE, Marcocci C, Bruno-Bossio G, Refetoff S. Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab. 1993 Jan; 76(1):257-9. PMID: 8421095.
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    275. Hayashi Y, Janssen OE, Weiss RE, Murata Y, Seo H, Refetoff S. The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products. J Clin Endocrinol Metab. 1993 Jan; 76(1):64-9. PMID: 8421105.
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    276. Van Cauter E, Sturis J, Byrne MM, Blackman JD, Scherberg NH, Leproult R, Refetoff S, Van Reeth O. Preliminary studies on the immediate phase-shifting effects of light and exercise on the human circadian clock. J Biol Rhythms. 1993; 8 Suppl:S99-108. PMID: 8274769.
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    277. Yen PM, Sugawara A, Refetoff S, Chin WW. New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone. J Clin Invest. 1992 Nov; 90(5):1825-31. PMID: 1430208.
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    278. Bertenshaw R, Sarne D, Tornari J, Weinberg M, Refetoff S. Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions. Biochim Biophys Acta. 1992 Aug 25; 1139(4):307-10. PMID: 1515456.
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    279. Janssen OE, Refetoff S. In vitro expression of thyroxine-binding globulin (TBG) variants. Impaired secretion of TBGPRO-227 but not TBGPRO-113. J Biol Chem. 1992 Jul 15; 267(20):13998-4004. PMID: 1378434.
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    281. Kambe F, Seo H, Mori Y, Murata Y, Janssen OE, Refetoff S, Matsui N. An additional carbohydrate chain in the variant thyroxine-binding globulin-Gary (TBGAsn-96) impairs its secretion. Mol Endocrinol. 1992 Mar; 6(3):443-9. PMID: 1584218.
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    283. Takeda K, Sakurai A, DeGroot LJ, Refetoff S. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. J Clin Endocrinol Metab. 1992 Jan; 74(1):49-55. PMID: 1727829.
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    285. Li P, Janssen OE, Takeda K, Bertenshaw RH, Refetoff S. Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene. Metabolism. 1991 Nov; 40(11):1231-4. PMID: 1943753.
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    286. Ain KB, Refetoff S, Fein HG, Weintraub BD. Pseudomalabsorption of levothyroxine. JAMA. 1991 Oct 16; 266(15):2118-20. PMID: 1920700.
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    287. Lewis GF, Alessi CA, Imperial JG, Refetoff S. Low serum free thyroxine index in ambulating elderly is due to a resetting of the threshold of thyrotropin feedback suppression. J Clin Endocrinol Metab. 1991 Oct; 73(4):843-9. PMID: 1653784.
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    288. Van Cauter E, Blackman JD, Roland D, Spire JP, Refetoff S, Polonsky KS. Modulation of glucose regulation and insulin secretion by circadian rhythmicity and sleep. J Clin Invest. 1991 Sep; 88(3):934-42. PMID: 1885778.
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    289. Imamura S, Mori Y, Murata Y, Yamamori I, Miura Y, Oiso Y, Seo H, Matsui N, Refetoff S. Molecular cloning and primary structure of rat thyroxine-binding globulin. Biochemistry. 1991 Jun 04; 30(22):5406-11. PMID: 1903654.
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    290. Janssen OE, Takeda K, Refetoff S. Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency. Hum Genet. 1991 Jun; 87(2):119-22. PMID: 1906047.
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    291. Pilcher JJ, Bergmann BM, Refetoff S, Fang VS, Rechtschaffen A. Sleep deprivation in the rat: XIII. The effect of hypothyroidism on sleep deprivation symptoms. Sleep. 1991 Jun; 14(3):201-10. PMID: 1896721.
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    292. Bertenshaw R, Takeda K, Refetoff S. Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions. Am J Hum Genet. 1991 Apr; 48(4):741-4. PMID: 1901689.
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    293. Takeda K, Balzano S, Sakurai A, DeGroot LJ, Refetoff S. Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation. J Clin Invest. 1991 Feb; 87(2):496-502. PMID: 1991834.
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    294. Harrison H, Miller K, Ober C, Refetoff S, Dick M, Elias S. Identification of a serum protein polymorphism via two-dimensional electrophoresis. Family and population studies in two genetically isolated groups: North American Hutterites and Australian aborigines. Am J Hum Genet. 1991 Feb; 48(2):362-9. PMID: 1990842.
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    295. Usala SJ, Bercu BB, Refetoff S. Diverse abnormalities of the c-erbA beta thyroid hormone receptor gene in generalized thyroid hormone resistance. Adv Exp Med Biol. 1991; 299:251-8. PMID: 1810141.
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    296. 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 Dec; 4(12):1988-94. PMID: 2082193.
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    297. Weiss RE, Balzano S, Scherberg NH, Refetoff S. Neonatal detection of generalized resistance to thyroid hormone. JAMA. 1990 Nov 07; 264(17):2245-50. PMID: 2120481.
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    298. Balzano S, Bergmann BM, Gilliland MA, Silva JE, Rechtschaffen A, Refetoff S. Effect of total sleep deprivation on 5'-deiodinase activity of rat brown adipose tissue. Endocrinology. 1990 Aug; 127(2):882-90. PMID: 2373059.
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    299. Pilcher JJ, Bergmann BM, Fang VS, Refetoff S, Rechtschaffen A. Sleep deprivation in the rat: XI. The effect of guanethidine-induced sympathetic blockade on the sleep deprivation syndrome. Sleep. 1990 Jun; 13(3):218-31. PMID: 2356394.
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    300. Sarne DH, Sobieszczyk S, Ain KB, Refetoff S. Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: responses to thyrotropin-releasing hormone stimulation and short term triiodothyronine suppression. J Clin Endocrinol Metab. 1990 May; 70(5):1305-11. PMID: 2110573.
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    301. Waltz MR, Pullman TN, Takeda K, Sobieszczyk P, Refetoff S. Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks. J Endocrinol Invest. 1990 Apr; 13(4):343-9. PMID: 2115061.
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    302. Mori Y, Takeda K, Charbonneau M, Refetoff S. Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect. J Clin Endocrinol Metab. 1990 Mar; 70(3):804-9. PMID: 2155256.
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    303. Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, Seino S, Bell GI, Refetoff S, DeGroot LJ. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. Proc Natl Acad Sci U S A. 1989 Nov; 86(22):8977-81. PMID: 2510172.
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    304. Refetoff S. Inherited thyroxine-binding globulin abnormalities in man. Endocr Rev. 1989 Aug; 10(3):275-93. PMID: 2506004.
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    305. Barsano CP, Angulo M, Burke SF, Refetoff S. Leukocyte alkaline phosphatase in hypothyroidism and hyperthyroidism. Response to initiation of thyroxine replacement therapy. Metabolism. 1989 Apr; 38(4):311-4. PMID: 2725274.
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    306. Takeda K, Mori Y, Sobieszczyk S, Seo H, Dick M, Watson F, Flink IL, Seino S, Bell GI, Refetoff S. Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties. J Clin Invest. 1989 Apr; 83(4):1344-8. PMID: 2495303.
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    307. Mori Y, Seino S, Takeda K, Flink IL, Murata Y, Bell GI, Refetoff S. A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule. Mol Endocrinol. 1989 Mar; 3(3):575-9. PMID: 2501669.
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    308. Bergmann BM, Everson CA, Kushida CA, Fang VS, Leitch CA, Schoeller DA, Refetoff S, Rechtschaffen A. Sleep deprivation in the rat: V. Energy use and mediation. Sleep. 1989 Feb; 12(1):31-41. PMID: 2538910.
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    309. Everson CA, Gilliland MA, Kushida CA, Pilcher JJ, Fang VS, Refetoff S, Bergmann BM, Rechtschaffen A. Sleep deprivation in the rat: IX. Recovery. Sleep. 1989 Feb; 12(1):60-7. PMID: 2538911.
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    310. Sarne DH, Refetoff S, Nelson JC, Linarelli LG. A new inherited abnormality of thyroxine-binding globulin (TBG-San Diego) with decreased affinity for thyroxine and triiodothyronine. J Clin Endocrinol Metab. 1989 Jan; 68(1):114-9. PMID: 2491856.
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    311. Refetoff S. The syndrome of generalized resistance to thyroid hormone (GRTH). Endocr Res. 1989; 15(4):717-43. PMID: 2699456.
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    312. Sarne DH, Refetoff S. Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin. J Clin Endocrinol Metab. 1988 Dec; 67(6):1166-70. PMID: 3142912.
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    313. Mori Y, Refetoff S, Flink IL, Charbonneau M, Murata Y, Seo H, Morkin E, Dussault JH. Detection of the thyroxine-binding globulin (TBG) gene in six unrelated families with complete TBG deficiency. J Clin Endocrinol Metab. 1988 Oct; 67(4):727-33. PMID: 2901429.
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    314. Ain KB, Refetoff S. Relationship of oligosaccharide modification to the cause of serum thyroxine-binding globulin excess. J Clin Endocrinol Metab. 1988 May; 66(5):1037-43. PMID: 3129446.
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    315. Ain KB, Refetoff S, Sarne DH, Murata Y. Effect of estrogen on the synthesis and secretion of thyroxine-binding globulin by a human hepatoma cell line, Hep G2. Mol Endocrinol. 1988 Apr; 2(4):313-23. PMID: 2837662.
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    316. Sarne DH, Refetoff S, Rosenfield RL, Farriaux JP. Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration. J Clin Endocrinol Metab. 1988 Apr; 66(4):740-6. PMID: 3346353.
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    317. Charbonneau M, Dussault JH, Refetoff S, Takamatsu J, Letarte J, Laberge C. A study on the inheritance of thyroxine-binding globulin (TBG) deficiency from data obtained in 13 families detected by a neonatal screening program. Clin Invest Med. 1988 Feb; 11(1):34-9. PMID: 3130208.
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    319. Ceccarelli P, Refetoff S, Murata Y. Resistance to thyroid hormone diagnosed by the reduced response of fibroblasts to the triiodothyronine-induced suppression of fibronectin synthesis. J Clin Endocrinol Metab. 1987 Aug; 65(2):242-6. PMID: 3597704.
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    320. Takamatsu J, Refetoff S, Charbonneau M, Dussault JH. Two new inherited defects of the thyroxine-binding globulin (TBG) molecule presenting as partial TBG deficiency. J Clin Invest. 1987 Mar; 79(3):833-40. PMID: 3102557.
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    321. Murata Y, Ceccarelli P, Refetoff S, Horwitz AL, Matsui N. Thyroid hormone inhibits fibronectin synthesis by cultured human skin fibroblasts. J Clin Endocrinol Metab. 1987 Feb; 64(2):334-9. PMID: 3793852.
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    322. Refetoff S, Dwulet FE, Benson MD. Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy. J Clin Endocrinol Metab. 1986 Dec; 63(6):1432-7. PMID: 3097057.
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    323. Takamatsu J, Refetoff S. Inherited heat-stable variant thyroxine-binding globulin (TBG-Chicago). J Clin Endocrinol Metab. 1986 Nov; 63(5):1140-4. PMID: 3093522.
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    324. Ichikawa K, DeGroot LJ, Refetoff S, Horwitz AL, Pollak ER. Nuclear thyroid hormone receptors in cultured human fibroblasts: improved method of isolation, partial characterization, and interaction with chromatin. Metabolism. 1986 Sep; 35(9):861-8. PMID: 3018426.
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    325. Takamatsu J, Ando M, Weinberg M, Refetoff S. Isoelectric focusing variant thyroxine-binding globulin in American blacks: increased heat lability and reduced serum concentration. J Clin Endocrinol Metab. 1986 Jul; 63(1):80-7. PMID: 3086361.
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    326. Schroeder HR, Johnson PK, Dean CL, Morris DL, Smith D, Refetoff S. Homogeneous apoenzyme reactivation immunoassay for thyroxin-binding globulin in serum. Clin Chem. 1986 May; 32(5):826-30. PMID: 3084130.
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    327. Murata Y, Magner JA, Refetoff S. The role of glycosylation in the molecular conformation and secretion of thyroxine-binding globulin. Endocrinology. 1986 Apr; 118(4):1614-21. PMID: 3081330.
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    328. Murata Y, Takamatsu J, Refetoff S. Inherited abnormality of thyroxine-binding globulin with no demonstrable thyroxine-binding activity and high serum levels of denatured thyroxine-binding globulin. N Engl J Med. 1986 Mar 13; 314(11):694-9. PMID: 3081807.
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    329. Sarne DH, Refetoff S. Measurement of thyroxine uptake from serum by cultured human hepatocytes as an index of thyroid status: reduced thyroxine uptake from serum of patients with nonthyroidal illness. J Clin Endocrinol Metab. 1985 Dec; 61(6):1046-52. PMID: 3932446.
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    330. Van Cauter E, Refetoff S. Multifactorial control of the 24-hour secretory profiles of pituitary hormones. J Endocrinol Invest. 1985 Aug; 8(4):381-91. PMID: 2999212.
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    331. Scherberg NH, Barokas K, Murata Y, Refetoff S. Direct application of radioiodinated aminoacyl tRNA for radiolabeling nascent proteins. Anal Biochem. 1985 Jun; 147(2):503-10. PMID: 3925814.
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    332. Sarne DH, Refetoff S, Murata Y, Dick M, Watson F. Variant thyroxine-binding globulin in serum of Australian aborigines: a comparison with familial TBG deficiency in Caucasians and American blacks. J Endocrinol Invest. 1985 Jun; 8(3):217-24. PMID: 3928733.
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    333. Murata Y, Refetoff S, Sarne DH, Dick M, Watson F. Variant thyroxine-binding globulin in serum of Australian aborigines: its physical, chemical and biological properties. J Endocrinol Invest. 1985 Jun; 8(3):225-32. PMID: 3928734.
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    334. Van Cauter E, Refetoff S. Evidence for two subtypes of Cushing's disease based on the analysis of episodic cortisol secretion. N Engl J Med. 1985 May 23; 312(21):1343-9. PMID: 3873008.
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    335. Murata Y, Sarne DH, Horwitz AL, Lecocq R, Aden DP, Knowles BB, Refetoff S. Characterization of thyroxine-binding globulin secreted by a human hepatoma cell line. J Clin Endocrinol Metab. 1985 Mar; 60(3):472-8. PMID: 2982897.
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    336. Refetoff S, Van Cauter E, Fang VS, Laderman C, Graybeal ML, Landau RL. The effect of dexamethasone on the 24-hour profiles of adrenocorticotropin and cortisol in Cushing's syndrome. J Clin Endocrinol Metab. 1985 Mar; 60(3):527-35. PMID: 2982900.
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    337. Refetoff S, Murata Y. X-chromosome-linked inheritance of the variant thyroxine-binding globulin in Australian aborigines. J Clin Endocrinol Metab. 1985 Feb; 60(2):356-60. PMID: 3917459.
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    338. Van Heuverswyn B, Streydio C, Brocas H, Refetoff S, Dumont J, Vassart G. Thyrotropin controls transcription of the thyroglobulin gene. Proc Natl Acad Sci U S A. 1984 Oct; 81(19):5941-5. PMID: 6592596.
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    339. Refetoff S, Murata Y, Vassart G, Chandramouli V, Marshall JS. Radioimmunoassays specific for the tertiary and primary structures of thyroxine-binding globulin (TBG): measurement of denatured TBG in serum. J Clin Endocrinol Metab. 1984 Aug; 59(2):269-77. PMID: 6429183.
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    340. Lim VS, Passo C, Murata Y, Ferrari E, Nakamura H, Refetoff S. Reduced triiodothyronine content in liver but not pituitary of the uremic rat model: demonstration of changes compatible with thyroid hormone deficiency in liver only. Endocrinology. 1984 Jan; 114(1):280-6. PMID: 6317348.
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    341. Murata Y, Refetoff S, Horwitz AL, Smith TJ. Hormonal regulation of glycosaminoglycan accumulation in fibroblasts from patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 1983 Dec; 57(6):1233-9. PMID: 6630416.
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    342. Lever EG, Refetoff S, Straus FH, Nguyen M, Kaplan EL. Coexisting thyroid and parathyroid disease--are they related? Surgery. 1983 Dec; 94(6):893-900. PMID: 6648801.
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    343. Refetoff S, Lever EG. The value of serum thyroglobulin measurement in clinical practice. JAMA. 1983 Nov 04; 250(17):2352-7. PMID: 6355525.
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    344. Sarne D, Barokas K, Scherberg NH, Refetoff S. Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. J Clin Endocrinol Metab. 1983 Sep; 57(3):665-7. PMID: 6192141.
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    345. Refetoff S, Salazar A, Smith TJ, Scherberg NH. The consequences of inappropriate treatment because of failure to recognize the syndrome of pituitary and peripheral tissue resistance to thyroid hormone. Metabolism. 1983 Aug; 32(8):822-34. PMID: 6865780.
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    346. DeGroot LJ, Reilly M, Pinnameneni K, Refetoff S. Retrospective and prospective study of radiation-induced thyroid disease. Am J Med. 1983 May; 74(5):852-62. PMID: 6837608.
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    347. Golstein J, Van Cauter E, Désir D, Noël P, Spire JP, Refetoff S, Copinschi G. Effects of "jet lag" on hormonal patterns. IV. Time shifts increase growth hormone release. J Clin Endocrinol Metab. 1983 Mar; 56(3):433-40. PMID: 6822645.
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    348. Lever EG, Refetoff S, Scherberg NH, Carr K. The influence of percutaneous fine needle aspiration on serum thyroglobulin. J Clin Endocrinol Metab. 1983 Jan; 56(1):26-9. PMID: 6847872.
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    349. Smith TJ, Murata Y, Horwitz AL, Philipson L, Refetoff S. Regulation of glycosaminoglycan synthesis by thyroid hormone in vitro. J Clin Invest. 1982 Nov; 70(5):1066-73. PMID: 6813355.
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    350. Désir D, Van Cauter E, L'Hermite M, Refetoff S, Jadot C, Caufriez A, Copinschi G, Robyn C. Effects of "jet lag" on hormonal patterns. III. Demonstration of an intrinsic circadian rhythmicity in plasma prolactin. J Clin Endocrinol Metab. 1982 Nov; 55(5):849-57. PMID: 7119086.
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    351. Pacini F, Sridama V, Refetoff S. Multiple complications of propylthiouracil treatment: granulocytopenia, eosinophilia, skin reaction and hepatitis with lymphocyte sensitization. J Endocrinol Invest. 1982 Nov-Dec; 5(6):403-7. PMID: 6221046.
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    352. Refetoff S. Syndromes of thyroid hormone resistance. Am J Physiol. 1982 Aug; 243(2):E88-98. PMID: 6287848.
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    353. Barsano CP, Skosey C, DeGroot LJ, Refetoff S. Serum thyroglobulin in the management of patients with thyroid cancer. Arch Intern Med. 1982 Apr; 142(4):763-7. PMID: 7073416.
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    354. Sharp B, Melmed S, Goldberg R, Carlson HE, Refetoff S, Hershman JM. Radioimmunoassay detection of endorphins from long-term culture of human pituitary tumour cells. Acta Endocrinol (Copenh). 1982 Feb; 99(2):174-8. PMID: 6277127.
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    355. Van Cauter E, Desir D, Refetoff S, Spire JP, Neol P, H'Hermite M, Robyn C, Copinschi G. The relationship between episodic variations of plasma prolactin and REM-non-REM cyclicity is an artifact. J Clin Endocrinol Metab. 1982 Jan; 54(1):70-5. PMID: 7054220.
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    356. Scherberg NH, Vassart G, Lecocq R, Dumont JE, Refetoff S. Modulation of thyroglobulin messenger RNA accumulation in the rat thyroid. Endocrinology. 1981 Nov; 109(5):1650-6. PMID: 7297497.
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    357. Van Cauter E, L'Hermite M, Copinschi G, Refetoff S, Desir D, Robyn C. Quantitative analysis of spontaneous variations of plasma prolactin in normal man. Am J Physiol. 1981 Nov; 241(5):E355-63. PMID: 7304739.
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    358. Smith TJ, Horwitz AL, Refetoff S. The effect of thyroid hormone on glycosaminoglycan accumulation in human skin fibroblasts. Endocrinology. 1981 Jun; 108(6):2397-9. PMID: 7227312.
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    359. Pochet R, Brocas H, Vassart G, Toubeau G, Seo H, Refetoff S, Dumont JE, Pasteels JL. Radioautographic localization of prolactin messenger RNA on histological sections by in situ hybridization. Brain Res. 1981 May 04; 211(2):433-8. PMID: 7237132.
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    360. Brocas H, van Coevorden A, Seo H, Refetoff S, Vassart G. Dopaminergic control of prolactin mRNA accumulation in the pituitary of the male rat. Mol Cell Endocrinol. 1981 Apr; 22(1):25-30. PMID: 7238998.
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    361. Fève-Montange M, Van Cauter E, Refetoff S, Désir D, Tourniaire J, Copinschi G. Effects of "jet lag" on hormonal patterns. II. Adaptation of melatonin circadian periodicity. J Clin Endocrinol Metab. 1981 Apr; 52(4):642-9. PMID: 7204537.
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    362. Désir D, Van Cauter E, Fang VS, Martino E, Jadot C, Spire JP, Noël P, Refetoff S, Copinschi G, Golstein J. Effects of "jet lag" on hormonal patterns. I. Procedures, variations in total plasma proteins, and disruption of adrenocorticotropin-cortisol periodicity. J Clin Endocrinol Metab. 1981 Apr; 52(4):628-41. PMID: 6259189.
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    363. Seo H, Wunderlich C, Vassart G, Refetoff S. Growth hormone responses to thyroid hormone in the neonatal rat: resistance and anamnestic response. J Clin Invest. 1981 Feb; 67(2):569-74. PMID: 7462429.
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    364. Lim VS, Henriquez C, Seo H, Refetoff S, Martino E. Thyroid function in a uremic rat model. Evidence suggesting tissue hypothyroidism. J Clin Invest. 1980 Nov; 66(5):946-54. PMID: 6776147.
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    365. Bigazzi M, Ronga R, Olivotti AL, Scarselli G, Refetoff S. Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female. J Endocrinol Invest. 1980 Oct-Dec; 3(4):349-52. PMID: 6162876.
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    366. Refetoff S, Degroot LJ, Barsano CP. Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone. J Clin Endocrinol Metab. 1980 Jul; 51(1):41-5. PMID: 6769941.
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    367. Martino E, Seo H, Lernmark A, Refetoff S. Ontogenetic patterns of thyrotropin-releasing hormone-like material in rat hypothalamus, pancreas, and retina: selective effect of light deprivation. Proc Natl Acad Sci U S A. 1980 Jul; 77(7):4345-8. PMID: 6776526.
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    368. Brown ME, Refetoff S. Transient elevation of serum thyroid hormone concentration after initiation of replacement therapy in myxedema. Ann Intern Med. 1980 Apr; 92(4):491-5. PMID: 7362153.
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    369. Refetoff S, DeGroot LJ, Skosey C. Postirradiation screening for thyroid nodules. JAMA. 1980 Mar 21; 243(11):1131-2. PMID: 7359658.
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    370. Désir D, van Cauter E, Golstein J, Fang VS, Leclercq R, Refetoff S, Copinschi G. Circadian and ultradian variations of ACTH and cortisol secretion. Horm Res. 1980; 13(4-5):302-16. PMID: 6268516.
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    371. Seo H, Refetoff S, Scherberg N, Brocas H, Vassart G. Isolation of rat prolactin messenger ribonucleic acid and synthesis of the complementary deoxyribonucleic acid. Endocrinology. 1979 Dec; 105(6):1481-7. PMID: 499085.
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    372. Seo H, Refetoff S, Martino E, Vassart G, Brocas H. The differential stimulatory effect of thyroid hormone on growth hormone synthesis and estrogen on prolactin synthesis due to accumulation of specific messenger ribonucleic acids. Endocrinology. 1979 Apr; 104(4):1083-90. PMID: 436750.
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    373. Seo H, Refetoff S, Vassart G, Brocas H. Comparison of primary and secondary stimulation of male rats by estradiol in terms of prolactin synthesis and mRNA accumulation in the pituitary. Proc Natl Acad Sci U S A. 1979 Feb; 76(2):824-8. PMID: 284404.
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    374. Bernal J, Refetoff S, DeGroot LJ. Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral tissue resistance to thyroid hormone action. J Clin Endocrinol Metab. 1978 Dec; 47(6):1266-72. PMID: 233694.
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    375. Brocas H, Vassart G, Seo H, Refetoff S. Reverse transcription of purified prolactin messenger RNA [proceedings]. Arch Int Physiol Biochim. 1978 Oct; 86(4):906-7. PMID: 84612.
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    376. Fang VS, Refetoff S. Heterogeneous human prolactin from a giant pituitary tumor in a patient with panhypopituitarism. J Clin Endocrinol Metab. 1978 Oct; 47(4):780-7. PMID: 263324.
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    377. Seo H, Brocas H, Vassart G, Refetoff S. Early in vitro induction of rat pituitary GH mRNA by T31. Endocrinology. 1978 Oct; 103(4):1506-9. PMID: 744163.
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    378. Martino E, Lernmark A, Seo H, Steiner DF, Refetoff S. High concentration of thyrotropin-releasing hormone in pancreatic islets. Proc Natl Acad Sci U S A. 1978 Sep; 75(9):4265-7. PMID: 100783.
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    379. Martino E, Seo H, Refetoff S. Loss of bioreactivity and preservation of immunoreactivity of iodothyrotropin-releasing hormone. Endocrinology. 1978 Jul; 103(1):246-53. PMID: 105887.
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    380. DeGroot LJ, Refetoff S, Bernal J, Rue PA, Coleoni AH. Nuclear receptors for thyroid hormone. J Endocrinol Invest. 1978 Jan; 1(1):79-88. PMID: 226575.
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    381. DeGroot LJ, Hoye K, Refetoff S, Van Herle AJ, Asteris GT, Rochman H. Serum albumin and antibodies in the diagnosis of thyroid cancer. J Clin Endocrinol Metab. 1977 Dec; 45(6):1220-3. PMID: 591616.
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    382. DeGroot LJ, Coleoni AH, Rue PA, Seo H, Martino E, Refetoff S. Reduced nuclear triiodothyronine receptors in starvation-induced hypothyroidism. Biochem Biophys Res Commun. 1977 Nov 07; 79(1):173-8. PMID: 200237.
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    383. Barbato AL, Bekerman C, Refetoff S. Transient iodide trapping defect in Hashimoto's thyroiditis detected by the combination of radionuclide and fluorescent scanning. Br J Radiol. 1977 Nov; 50(599):827-30. PMID: 579322.
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    384. Lim VS, Fang VS, Katz AI, Refetoff S. Thyroid dysfunction in chronic renal failure. A study of the pituitary-thyroid axis and peripheral turnover kinetics of thyroxine and triiodothyronine. J Clin Invest. 1977 Sep; 60(3):522-34. PMID: 408377.
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    385. Seo H, Vassart G, Brocas H, Refetoff S. Triiodothyronine stimulates specifically growth hormone mRNA in rat pituitary tumor cells. Proc Natl Acad Sci U S A. 1977 May; 74(5):2054-8. PMID: 266726.
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    386. Brocas H, Seo H, Refetoff S, Vassart G, Dumont JE. Translation of prolactin and growth hormone messenger RNA from rat pituitary tumour cells. Stimulation of GH mRNA activity by triiodothyronine [proceedings]. Arch Int Physiol Biochim. 1977 Apr; 85(2):387. PMID: 71098.
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    387. Scherberg N, Refetoff S. Iodination-deiodination. A radiochemical method for detection of structure and changes in structure in RNA. Biochim Biophys Acta. 1977 Mar 18; 475(2):337-51. PMID: 14687.
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    388. Bernal J, Refetoff S. The action of thyroid hormone. Clin Endocrinol (Oxf). 1977 Mar; 6(3):227-49. PMID: 322895.
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    389. Horwitz DL, Refetoff S. Graves' disease associated with familial deficiency of thyroxine-binding globulin. J Clin Endocrinol Metab. 1977 Feb; 44(2):242-7. PMID: 402376.
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    390. Niepomniszcze H, Medeiros-Neto GA, Refetoff S, Degroot LJ, Fang VS. Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase. Clin Endocrinol (Oxf). 1977 Jan; 6(1):27-39. PMID: 844215.
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    391. Seo H, Refetoff S, Fang VS. Induction of hypothyroidism and hypoprolactinemia by growth hormone producing rat pituitary tumors. Endocrinology. 1977 Jan; 100(1):216-26. PMID: 401484.
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    392. Refetoff S, Demeester-Mirkine N, Ermans AM, DeGroot LJ. Rapid control of thyrotoxicosis with combined 131I, anthithyroid drugs and KI therapy. J Nucl Med Allied Sci. 1977 Jan-Jun; 21(1-2):23-9. PMID: 578811.
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    393. Brocas H, Seo H, Refetoff S, Vassart G. Simultaneous translation of growth hormone and prolactin messenger RNA from rat pituitary tumor cells. FEBS Lett. 1976 Nov; 70(1):175-9. PMID: 992060.
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    394. Siegler M, Refetoff S. Pretibial myxedema--a reversible cause of foot drop due to entrapment of the peroneal nerve. N Engl J Med. 1976 Jun 17; 294(25):1383-4. PMID: 1264177.
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    395. Amino N, Hagen SR, Yamada N, Refetoff S. Measurement of circulating thyroid microsomal antibodies by the tanned red cell haemagglutination technique: its usefulness in the diagnosis of autoimmune thyroid diseases. Clin Endocrinol (Oxf). 1976 Mar; 5(2):115-25. PMID: 773572.
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    396. Refetoff S, Fang VS, Marshall JS, Robin NI. Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess. J Clin Invest. 1976 Feb; 57(2):485-95. PMID: 56342.
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    397. Vassart G, Refetoff S, Brocas H, Dinsart C, Dumont JE. Translation of thyroglobulin 33S messenger RNA as a means of determining thyroglobulin quaternary structure. Proc Natl Acad Sci U S A. 1975 Oct; 72(10):3839-43. PMID: 1060067.
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    398. Rochman H, deGroot LJ, Rieger CH, Varnavides LA, Refetoff S, Joung JI, Hoye K. Carcinoembryonic antigen and humoral antibody response in patients with thyroid carcinoma. Cancer Res. 1975 Oct; 35(10):2689-92. PMID: 1157044.
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    399. Refetoff S. Thyroid hormone therapy. Med Clin North Am. 1975 Sep; 59(5):1147-62. PMID: 1099361.
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    400. Refetoff S, Fang VS, Marshall JS. Studies on human thyroxine-binding globulin (TBG). IX. Some physical, chemical, and biological properties of radioiodinated TBG and partially desialylated TBG. J Clin Invest. 1975 Jul; 56(1):177-87. PMID: 806610.
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    401. Refetoff S, Harrison J, Karanfilski BT, Kaplan EL, De Groot LJ, Bekerman C. Continuing occurrence of thyroid carcinoma after irradiation to the neck in infancy and childhood. N Engl J Med. 1975 Jan 23; 292(4):171-5. PMID: 122783.
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    402. Niepomniszcze H, Rosenbloom AL, Degroot LJ, Shimaoka K, Refetoff S, Yamamoto K. Differentiation of two abnormalities in thyroid peroxidase causing organification defect and goitrous hypothyroidism. Metabolism. 1975 Jan; 24(1):57-67. PMID: 162974.
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    403. Scherberg NH, Refetoff S. Radioiodine labeling of ribopolymers for special applications in biology. Methods Cell Biol. 1975; 10:343-59. PMID: 1186506.
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    404. Fang VS, Refetoff S, Rosenfield RL. Hypogonadism induced by a transplantable, prolactin-producing tumor in male rats: hormonal and morphological studies. Endocrinology. 1974 Oct; 95(4):991-8. PMID: 4413745.
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    405. Degroot LJ, Refetoff S, Strausser J, Barsano C. Nuclear triiodothyronine-binding protein: partial characterization and binding to chromatin. Proc Natl Acad Sci U S A. 1974 Oct; 71(10):4042-6. PMID: 4530284.
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    406. Fang VS, Refetoff S. Radioimmunoassay for serum triiodothyronine: evaluation of simple techniques to control interference from binding proteins. Clin Chem. 1974 Sep; 20(9):1150-4. PMID: 4213341.
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    407. Refetoff S, Ochi Y, Selenkow HA, Rosenfield RL. Neonatal hypothyroidism and goiter in one infant of each of two sets of twins due to maternal therapy with antithyroid drugs. J Pediatr. 1974 Aug; 85(2):240-4. PMID: 4135477.
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    408. Hoffer PB, Lathrop K, Bekerman C, Fang VS, Refetoff S. Use of 131-I-CEA antibody as a tumor scanning agent. J Nucl Med. 1974 May; 15(5):323-7. PMID: 4132666.
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    409. Scherberg NH, Refetoff S. The radioiodination of ribopolymers for use in hybridizational and molecular analyses. J Biol Chem. 1974 Apr 10; 249(7):2143-50. PMID: 4594497.
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    410. Scherberg NH, Refetoff S. The preparation of carrier-free iodine isotope-substituted cytosine nucleotides. Biochim Biophys Acta. 1974 Apr 10; 340(4):446-51. PMID: 4598736.
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    411. Refetoff S, Fang VS, Rapoport B, Friesen HG. Interrelationships in the regulation of TSH and prolactin secretion in man: effects of L-dopa, TRH and thyroid hormone in various combinations. J Clin Endocrinol Metab. 1974 Mar; 38(3):450-7. PMID: 4205563.
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    412. Fang VS, Refetoff S. Effects of 7, 12-dimethylbenz(a)anthracene and estrogen on the transplantation and growth of a rat pituitary tumor. Cancer Res. 1974 Jan; 34(1):225-9. PMID: 4809460.
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    413. Rosenfield RL, Fang VS, Dupon C, Kim MH, Refetoff S. The effects of low doses of depot estradiol and testosterone in teenagers with ovarian failure and Turner's syndrome. J Clin Endocrinol Metab. 1973 Oct; 37(4):574-80. PMID: 4742538.
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    414. Wall AJ, Levinson JD, Refetoff S. Hyperthyroidism and adult celiac disease. Am J Gastroenterol. 1973 Oct; 60(4):387-93. PMID: 4758296.
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    415. Gottesman RL, Refetoff S. Diagnosis and management of thyroid diseases in pregnancy. J Reprod Med. 1973 Jul; 11(1):19-22. PMID: 4717609.
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    416. Scherberg NH, Refetoff S. Hybridization of RNA labelled with 125 I to high specific activity. Nat New Biol. 1973 Apr 04; 242(118):142-5. PMID: 4512652.
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    417. Porter BA, Refetoff S, Rosenfeld RL, De Groat LJ, Lang US, Stark O. Abnormal thyroxine metabolism in hyposomatotrophic dwarfism and inhibition of responsiveness to TRH during GH therapy. Pediatrics. 1973 Apr; 51(4):668-74. PMID: 4633266.
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    418. Rapoport B, Refetoff S, Fang VS, Friesen HG. Suppression of serum thyrotropin (TSH) by L-dopa in chronic hypothyroidism: interrelationships in the regulation of TSH and prolactin secretion. J Clin Endocrinol Metab. 1973 Feb; 36(2):256-62. PMID: 4630270.
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    419. Niepomniszcze H, Castells S, DeGroot LJ, Refetoff S, Kim OS, Rapoport B, Hati R. Peroxidase defect in congenital goiter with complete organification block. J Clin Endocrinol Metab. 1973 Feb; 36(2):347-57. PMID: 4345693.
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    420. Refetoff S, Block MB, Ehrlich EN, Friesen HG. Chiari-Frommel syndrome in a patient with primary adrenocortical insufficiency. N Engl J Med. 1972 Dec 28; 287(26):1326-8. PMID: 4344040.
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    421. Refetoff S, Matalon R, Bigazzi M. Metabolism of L-thyroxine (T4) and L-triiodothyronine (T3) by human fibroblasts in tissue culture: evidence for cellular binding proteins and conversion of T4 to T3. Endocrinology. 1972 Oct; 91(4):934-47. PMID: 5065814.
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    422. Refetoff S, DeGroot LJ, Benard B, DeWind LT. Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism. 1972 Aug; 21(8):723-56. PMID: 5047916.
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    423. Refetoff S, Robin NI, Alper CA. Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus. J Clin Invest. 1972 Apr; 51(4):848-67. PMID: 4111366.
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    424. Refetoff S, Hagen SR, Selenkow HA. Estimation of the T 4 binding capacity of serum TBG and TBPA by a single T 4 load ion exchange resin method. J Nucl Med. 1972 Jan; 13(1):2-12. PMID: 4621446.
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    425. Robin NI, Selenkow HA, Fang VS, Refetoff S, Piasecki G, Rauschecker H, Jackson BT. Bidirectional thyroxine exchange in pregnant sheep. Hormones. 1972; 3(4):235-49. PMID: 4653182.
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    426. Refetoff S, Landau RL. Alterations in thyroxine (T 4 ) and tri-iodothyronine (T 3 ) binding to serum proteins by heat. J Lab Clin Med. 1971 Dec; 78(6):999-1000. PMID: 5002270.
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    427. Robin NI, Refetoff S, Selenkow HA. The computer in the diagnosis of thyroid disease. J Nucl Med. 1971 Sep; 12(9):620-4. PMID: 4999075.
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    428. De Costre P, Buhler U, DeGroot LJ, Refetoff S. Diurnal rhythm in total serum thyroxine levels. Metabolism. 1971 Aug; 20(8):782-91. PMID: 4105484.
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    429. Alper CA, Robin NI, Refetoff S. Genetic polymorphism in rhesus C3 and Gc globulin. J Immunol. 1971 Jul; 107(1):96-8. PMID: 4103922.
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    430. Robin NI, Hagen SR, Collaço F, Refetoff S, Selenkow HA. Serum tests for measurement of thyroid function. Hormones. 1971; 2(5):266-79. PMID: 5006665.
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    431. Robin NI, Refetoff S, Gleason RE, Selenkow HA. Thyroid hormone relationships between maternal and fetal circulations in human pregnancy at term: a study in patients with normal and abnormal thyroid function. Am J Obstet Gynecol. 1970 Dec 15; 108(8):1269-76. PMID: 5482861.
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    432. Sterling K, Refetoff S, Selenkow HA. T3 thyrotoxicosis. Thyrotoxicosis due to elevated serum triiodothyronine levels. JAMA. 1970 Jul 27; 213(4):571-5. PMID: 4193903.
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    433. Refetoff S, Robin NI, Fang VS. Parameters of thyroid function in serum of 16 selected vertebrate species: a study of PBI, serum T4, free T4, and the pattern of T4 and T3 binding to serum proteins. Endocrinology. 1970 Apr; 86(4):793-805. PMID: 4189857.
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    434. Refetoff S, Sönksen PH. Disappearance rate of endogenous and exogenous human growth hormone in man. J Clin Endocrinol Metab. 1970 Mar; 30(3):386-92. PMID: 5412545.
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    435. Stanbury JB, Fierro-Benitez R, Estrella E, Milutinovic PS, Tellez MU, Refetoff S. Endemic goiter with hypothyroidism in three generations. J Clin Endocrinol Metab. 1969 Dec; 29(12):1596-600. PMID: 5347689.
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    436. Robin NI, Refetoff S, Fang V, Selenkow HA. Parameters of thyroid function in maternal and cord serum at term pregnancy. J Clin Endocrinol Metab. 1969 Sep; 29(9):1276-80. PMID: 4980117.
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    437. Alper CA, Robin NI, Refetoff S. Genetic polymorphism of rhesus thyroxine-binding prealbumin: evidence for tetrameric structure in primates. Proc Natl Acad Sci U S A. 1969 Jul; 63(3):775-81. PMID: 4981529.
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    438. Saxena BN, Refetoff S, Emerson K, Selenkow HA. A rapid radioimmunoassay for human placental lactogen. Application to normal and pathologic pregnancies. Am J Obstet Gynecol. 1968 Aug 01; 101(7):874-85. PMID: 4298214.
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    439. Refetoff S, Selenkow HA. Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred. N Engl J Med. 1968 May 16; 278(20):1081-7. PMID: 4171474.
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    440. Harrison MR, Fierro-Benitez R, Ramirez I, Refetoff S, Stanbury JB. Immunoreactive growth hormone in endemic cretins in Ecuador. Lancet. 1968 May 04; 1(7549):937-40. PMID: 4171581.
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    441. Selenkow HA, Refetoff S. Common tests of thyroid function in serum. JAMA. 1967 Oct 09; 202(2):135-6. PMID: 4167374.
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    442. Selenkow HA, Wool MS, Refetoff S. Radioimmunoassay of anterior pituitary hormones. Radiol Clin North Am. 1967 Aug; 5(2):317-31. PMID: 4317743.
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    443. Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967 Feb; 27(2):279-94. PMID: 4163616.
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