Loading...
The University of Chicago Header Logo
Keywords
Last Name
Institution

Samuel Refetoff

TitleEmeritus/Emerita
InstitutionUniversity of Chicago
DepartmentMedicine-Endocrinology
AddressChicago IL 60637
vCardDownload vCard

    Collapse Bibliographic 
    Collapse selected publications
    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.
    List All   |   Timeline
    1. França MM, Reeve L, Dumitrescu AM, de Bock M, Refetoff S. A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002. PMID: 35611983.
      View in: PubMed
    2. Zhang X, Malik B, Young C, Zhang H, Larkin D, Liao XH, Refetoff S, Liu M, Arvan P. Maintaining the thyroid gland in mutant thyroglobulin-induced hypothyroidism requires thyroid cell proliferation that must continue in adulthood. J Biol Chem. 2022 07; 298(7):102066. PMID: 35618019.
      View in: PubMed
    3. Liao XH, Avalos P, Shelest O, Ofan R, Shilo M, Bresee C, Likhite S, Vit JP, Heuer H, Kaspar B, Meyer K, Dumitrescu AM, Refetoff S, Svendsen CN, Vatine GD. AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency. Thyroid. 2022 07; 32(7):849-859. PMID: 35350867.
      View in: PubMed
    4. Cho HR, Sugihara J, Shimizu H, Xiang YY, Bai X, Wang Y, Liao XH, Asa SL, Refetoff S, Liu M. Pathogenesis of Multinodular Goiter in Elderly XB130-Deficient Mice: Alteration of Thyroperoxidase Affinity with Iodide and Hydrogen Peroxide. Thyroid. 2022 04; 32(4):385-396. PMID: 34915750.
      View in: PubMed
    5. Sugihara J, Wong A, Shimizu H, Zhao J, Cho HR, Wang Y, Refetoff S, Arvan P, Liu M. Thyroidal Transcriptomic Profiles of Pathoadaptive Responses to Congenital Hypothyroidism in XB130 Knockout Mice. Cells. 2022 03 12; 11(6). PMID: 35326426.
      View in: PubMed
    6. Salas-Lucia F, França MM, Amrhein JA, Weir JE, Dumitrescu AM, Refetoff S. Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid. 2022 03; 32(3):336-339. PMID: 34969265.
      View in: PubMed
    7. Chan SL, Refetoff S, Babic N, Jin M, Garg U, Yeo KJ. Triiodothyroacetic Acid Cross-Reacts With Measurement of Triiodothyronine (T3) on Various Immunoassay Platforms. Am J Clin Pathol. 2022 02 03; 157(2):156-158. PMID: 34542585.
      View in: PubMed
    8. Shaki D, Eskin-Schwartz M, Hadar N, Bosin E, Carmon L, Refetoff S, Hershkovitz E, Birk OS, Haim A. TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. Eur Thyroid J. 2022 01 07; 11(1). PMID: 34981755.
      View in: PubMed
    9. Wang Y, Xiang YY, Sugihara J, Lu WY, Liao XH, Arvan P, Refetoff S, Liu M. XB130 Plays an Essential Role in Folliculogenesis Through Mediating Interactions Between Microfilament and Microtubule Systems in Thyrocytes. Thyroid. 2022 02; 32(2):128-137. PMID: 34652970.
      View in: PubMed
    10. Wang Y, Shimizu H, Xiang YY, Sugihara J, Lu WY, Liao XH, Cho HR, Toba H, Bai XH, Asa SL, Arvan P, Refetoff S, Liu M. XB130 Deficiency Causes Congenital Hypothyroidism in Mice due to Disorganized Apical Membrane Structure and Function of Thyrocytes. Thyroid. 2021 11; 31(11):1650-1661. PMID: 34470464.
      View in: PubMed
    11. Furman A, Hannoush Z, Echegoyen FB, Dumitrescu A, Refetoff S, Weiss RE. Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism. Thyroid. 2021 10; 31(10):1589-1591. PMID: 34128397.
      View in: PubMed
    12. Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S. Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency. Thyroid. 2021 09; 31(9):1316-1321. PMID: 34049438.
      View in: PubMed
    13. Pappa T, Refetoff S. Resistance to Thyroid Hormone Beta: A Focused Review. Front Endocrinol (Lausanne). 2021; 12:656551. PMID: 33868182.
      View in: PubMed
    14. Chaves C, Bruinstroop E, Refetoff S, Yen PM, Anselmo J. Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid. 2021 07; 31(7):1127-1134. PMID: 33353459.
      View in: PubMed
    15. Saqcena M, Leandro-Garcia LJ, Maag JLV, Tchekmedyian V, Krishnamoorthy GP, Tamarapu PP, Tiedje V, Reuter V, Knauf JA, de Stanchina E, Xu B, Liao XH, Refetoff S, Ghossein R, Chi P, Ho AL, Koche RP, Fagin JA. SWI/SNF Complex Mutations Promote Thyroid Tumor Progression and Insensitivity to Redifferentiation Therapies. Cancer Discov. 2021 05; 11(5):1158-1175. PMID: 33318036.
      View in: PubMed
    16. Furman AE, Dumitrescu AM, Refetoff S, Weiss RE. Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation. Thyroid. 2021 06; 31(6):1003-1005. PMID: 33198587.
      View in: PubMed
    17. França MM, German A, Fernandes GW, Liao XH, Bianco AC, Refetoff S, Dumitrescu AM. Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207. PMID: 32718224.
      View in: PubMed
    18. Refetoff S, Pappa T, Williams MK, Matheus MG, Liao XH, Hansen K, Nicol L, Pierce M, Blasco PA, Wiebers Jensen M, Bernal J, Weiss RE, Dumitrescu AM, LaFranchi S. Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation. Thyroid. 2021 05; 31(5):713-720. PMID: 32746752.
      View in: PubMed
    19. Ziros PG, Renaud CO, Chartoumpekis DV, Bongiovanni M, Habeos IG, Liao XH, Refetoff S, Kopp PA, Brix K, Sykiotis GP. Mice Hypomorphic for Keap1, a Negative Regulator of the Nrf2 Antioxidant Response, Show Age-Dependent Diffuse Goiter with Elevated Thyrotropin Levels. Thyroid. 2021 01; 31(1):23-35. PMID: 32689903.
      View in: PubMed
    20. Grijota-Martínez C, Bárez-López S, Ausó E, Refetoff S, Frey WH, Guadaño-Ferraz A. Intranasal delivery of Thyroid hormones in MCT8 deficiency. PLoS One. 2020; 15(7):e0236113. PMID: 32687511.
      View in: PubMed
    21. Bruellman RJ, Watanabe Y, Ebrhim RS, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2020 05 01; 105(5). PMID: 31867598.
      View in: PubMed
    22. Refetoff S. Re: "Goiter in Residents of Salta, Argentina: An Artistic Rendition" by Jonklaas et al. (Thyroid 2020:30;34-36. DOI: 10.1089/thy.2019.0639). Thyroid. 2020 05; 30(5):783-784. PMID: 32131708.
      View in: PubMed
    23. França MM, Levine RL, Pappa T, Ilaka-Chibuluzo S, Rothberger GD, Dumitrescu AM, Refetoff S. Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland. Thyroid. 2020 04; 30(4):640-642. PMID: 31910104.
      View in: PubMed
    24. Bruellman R, Watanabe Y, Shareef R, Abdullah MA, Dumitrescu A, Strauss BS, Refetoff S, Weiss RE. Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism. Thyroid. 2020 05; 30(5):780-782. PMID: 31868128.
      View in: PubMed
    25. Fu J, Korwutthikulrangsri M, Ramos-Platt L, Pierson TM, Liao XH, Refetoff S, Weiss RE, Dumitrescu AM. Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants. Thyroid. 2020 03; 30(3):463-465. PMID: 31856685.
      View in: PubMed
    26. Ebrhim RS, Bruellman RJ, Watanabe Y, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß. Horm Res Paediatr. 2019; 92(6):390-394. PMID: 31914441.
      View in: PubMed
    27. Refetoff S, Scherberg NH, Yuan C, Wu W, Wu Z, McPhaul MJ. Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement. Thyroid. 2020 01; 30(1):37-41. PMID: 31822224.
      View in: PubMed
    28. Bárez-López S, Grijota-Martínez C, Liao XH, Refetoff S, Guadaño-Ferraz A. Intracerebroventricular administration of the thyroid hormone analog TRIAC increases its brain content in the absence of MCT8. PLoS One. 2019; 14(12):e0226017. PMID: 31809508.
      View in: PubMed
    29. Grieco G, Wang T, Delcorte O, Spourquet C, Janssens V, Strickaert A, Gaide Chevronnay HP, Liao XH, Bilanges B, Refetoff S, Vanhaesebroeck B, Maenhaut C, Courtoy PJ, Pierreux CE. Class III PI3K Vps34 Controls Thyroid Hormone Production by Regulating Thyroglobulin Iodination, Lysosomal Proteolysis, and Tissue Homeostasis. Thyroid. 2020 01; 30(1):133-146. PMID: 31650902.
      View in: PubMed
    30. Korwutthikulrangsri M, Dosiou C, Dumitrescu AM, Refetoff S. A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance. Eur Thyroid J. 2019 Dec; 8(6):293-297. PMID: 31934554.
      View in: PubMed
    31. Kohler H, Latteyer S, Hönes GS, Theurer S, Liao XH, Christoph S, Zwanziger D, Schulte JH, Kero J, Undeutsch H, Refetoff S, Schmid KW, Führer D, Moeller LC. Increased Anaplastic Lymphoma Kinase Activity Induces a Poorly Differentiated Thyroid Carcinoma in Mice. Thyroid. 2019 10; 29(10):1438-1446. PMID: 31526103.
      View in: PubMed
    32. 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 10; 29(10):1518-1520. PMID: 31432759.
      View in: PubMed
    33. Ikegami K, Refetoff S, Van Cauter E, Yoshimura T. Interconnection between circadian clocks and thyroid function. Nat Rev Endocrinol. 2019 10; 15(10):590-600. PMID: 31406343.
      View in: PubMed
    34. 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 08; 29(8):1158-1167. PMID: 31337282.
      View in: PubMed
    35. Mimoto MS, Refetoff S. Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations. J Endocrinol Invest. 2020 Jan; 43(1):31-41. PMID: 31352644.
      View in: PubMed
    36. 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 06; 29(6):778-782. PMID: 30938226.
      View in: PubMed
    37. 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.
      View in: PubMed
    38. 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.
      View in: PubMed
    39. 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.
      View in: PubMed
    40. 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.
      View in: PubMed
    41. 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.
      View in: PubMed
    42. 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.
      View in: PubMed
    43. 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.
      View in: PubMed
    44. 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.
      View in: PubMed
    45. 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.
      View in: PubMed
    46. 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.
      View in: PubMed
    47. 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.
      View in: PubMed
    48. 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.
      View in: PubMed
    49. 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.
      View in: PubMed
    50. 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.
      View in: PubMed
    51. 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.
      View in: PubMed
    52. 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.
      View in: PubMed
    53. 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.
      View in: PubMed
    54. 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.
      View in: PubMed
    55. Grasberger H, Refetoff S. Resistance to thyrotropin. Best Pract Res Clin Endocrinol Metab. 2017 03; 31(2):183-194. PMID: 28648507.
      View in: PubMed
    56. 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.
      View in: PubMed
    57. 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.
      View in: PubMed
    58. 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.
      View in: PubMed
    59. 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.
      View in: PubMed
    60. 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.
      View in: PubMed
    61. 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.
      View in: PubMed
    62. 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.
      View in: PubMed
    63. 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.
      View in: PubMed
    64. 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.
      View in: PubMed
    65. 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.
      View in: PubMed
    66. 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.
      View in: PubMed
    67. 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.
      View in: PubMed
    68. 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.
      View in: PubMed
    69. 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.
      View in: PubMed
    70. 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.
      View in: PubMed
    71. 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.
      View in: PubMed
    72. 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.
      View in: PubMed
    73. 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.
      View in: PubMed
    74. 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.
      View in: PubMed
    75. 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.
      View in: PubMed
    76. 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.
      View in: PubMed
    77. 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.
      View in: PubMed
    78. 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.
      View in: PubMed
    79. 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.
      View in: PubMed
    80. 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.
      View in: PubMed
    81. 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.
      View in: PubMed
    82. 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.
      View in: PubMed
    83. 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.
      View in: PubMed
    84. 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.
      View in: PubMed
    85. 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.
      View in: PubMed
    86. 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.
      View in: PubMed
    87. 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.
      View in: PubMed
    88. 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.
      View in: PubMed
    89. 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.
      View in: PubMed
    90. 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.
      View in: PubMed
    91. 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.
      View in: PubMed
    92. 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.
      View in: PubMed
    93. 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.
      View in: PubMed
    94. 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.
      View in: PubMed
    95. 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.
      View in: PubMed
    96. 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.
      View in: PubMed
    97. 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.
      View in: PubMed
    98. Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013 Jul; 1830(7):3987-4003. PMID: 22986150.
      View in: PubMed
    99. 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.
      View in: PubMed
    100. 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.
      View in: PubMed
    101. 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.
      View in: PubMed
    102. 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.
      View in: PubMed
    103. 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.
      View in: PubMed
    104. 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.
      View in: PubMed
    105. 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.
      View in: PubMed
    106. 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.
      View in: PubMed
    107. 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.
      View in: PubMed
    108. Grasberger H, Refetoff S. Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr. 2011 Aug; 23(4):421-8. PMID: 21543982.
      View in: PubMed
    109. Dumitrescu AM, Refetoff S. Inherited defects of thyroid hormone metabolism. Ann Endocrinol (Paris). 2011 Apr; 72(2):95-8. PMID: 21511232.
      View in: PubMed
    110. 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.
      View in: PubMed
    111. Hermanns P, Grasberger H, Refetoff S, Pohlenz J. Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. J Clin Endocrinol Metab. 2011 Jun; 96(6):E977-81. PMID: 21450989.
      View in: PubMed
    112. Hulur I, Hermanns P, Nestoris C, Heger S, Refetoff S, Pohlenz J, Grasberger H. A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. J Clin Endocrinol Metab. 2011 May; 96(5):E841-5. PMID: 21367925.
      View in: PubMed
    113. 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.
      View in: PubMed
    114. 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.
      View in: PubMed
    115. 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.
      View in: PubMed
    116. 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.
      View in: PubMed
    117. 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.
      View in: PubMed
    118. 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.
      View in: PubMed
    119. 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.
      View in: PubMed
    120. 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.
      View in: PubMed
    121. 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.
      View in: PubMed
    122. 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.
      View in: PubMed
    123. 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.
      View in: PubMed
    124. 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.
      View in: PubMed
    125. 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.
      View in: PubMed
    126. Di Cosmo C, Liao XH, Dumitrescu AM, Weiss RE, Refetoff S. A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology. 2009 Sep; 150(9):4450-8. PMID: 19497976.
      View in: PubMed
    127. 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.
      View in: PubMed
    128. 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.
      View in: PubMed
    129. 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.
      View in: PubMed
    130. 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.
      View in: PubMed
    131. 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.
      View in: PubMed
    132. 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.
      View in: PubMed
    133. 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.
      View in: PubMed
    134. 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.
      View in: PubMed
    135. 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.
      View in: PubMed
    136. Papadimitriou A, Dumitrescu AM, Papavasiliou A, Fretzayas A, Nicolaidou P, Refetoff S. A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics. 2008 Jan; 121(1):e199-202. PMID: 18166539.
      View in: PubMed
    137. Refetoff S. Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone. Nat Clin Pract Endocrinol Metab. 2008 Jan; 4(1):1. PMID: 18084342.
      View in: PubMed
    138. 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.
      View in: PubMed
    139. 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.
      View in: PubMed
    140. 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.
      View in: PubMed
    141. 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.
      View in: PubMed
    142. 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.
      View in: PubMed
    143. Moeller LC, Alonso M, Liao X, Broach V, Dumitrescu A, Van Sande J, Montanelli L, Skjei S, Goodwin C, Grasberger H, Refetoff S, Weiss RE. Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats. Endocrinology. 2007 Oct; 148(10):4727-33. PMID: 17640981.
      View in: PubMed
    144. Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007 Jun; 21(2):277-305. PMID: 17574009.
      View in: PubMed
    145. 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.
      View in: PubMed
    146. 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.
      View in: PubMed
    147. 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.
      View in: PubMed
    148. Dumitrescu AM, Refetoff S. Novel biological and clinical aspects of thyroid hormone metabolism. Endocr Dev. 2007; 10:127-139. PMID: 17684394.
      View in: PubMed
    149. 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.
      View in: PubMed
    150. 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.
      View in: PubMed
    151. 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.
      View in: PubMed
    152. 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.
      View in: PubMed
    153. 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.
      View in: PubMed
    154. 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.
      View in: PubMed
    155. 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.
      View in: PubMed
    156. 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.
      View in: PubMed
    157. 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.
      View in: PubMed
    158. 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.
      View in: PubMed
    159. 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.
      View in: PubMed
    160. 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.
      View in: PubMed
    161. Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52. PMID: 16228000.
      View in: PubMed
    162. 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.
      View in: PubMed
    163. 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.
      View in: PubMed
    164. 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.
      View in: PubMed
    165. 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.
      View in: PubMed
    166. 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.
      View in: PubMed
    167. 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.
      View in: PubMed
    168. 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.
      View in: PubMed
    169. 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.
      View in: PubMed
    170. 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.
      View in: PubMed
    171. 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.
      View in: PubMed
    172. 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.
      View in: PubMed
    173. 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.
      View in: PubMed
    174. 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.
      View in: PubMed
    175. 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.
      View in: PubMed
    176. 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.
      View in: PubMed
    177. 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.
      View in: PubMed
    178. 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.
      View in: PubMed
    179. 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.
      View in: PubMed
    180. 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.
      View in: PubMed
    181. 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.
      View in: PubMed
    182. 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.
      View in: PubMed
    183. 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.
      View in: PubMed
    184. 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.
      View in: PubMed
    185. 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.
      View in: PubMed
    186. 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.
      View in: PubMed
    187. 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.
      View in: PubMed
    188. 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.
      View in: PubMed
    189. 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.
      View in: PubMed
    190. 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.
      View in: PubMed
    191. 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.
      View in: PubMed
    192. Refetoff S. The syndrome of resistance to thyroid stimulating hormone. J Chin Med Assoc. 2003 Aug; 66(8):441-52. PMID: 14604307.
      View in: PubMed
    193. Refetoff S. Resistance to thyrotropin. J Endocrinol Invest. 2003 Aug; 26(8):770-9. PMID: 14669836.
      View in: PubMed
    194. 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.
      View in: PubMed
    195. 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.
      View in: PubMed
    196. 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.
      View in: PubMed
    197. 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.
      View in: PubMed
    198. Refetoff S. Resistance to thyroid hormone with and without receptor gene mutations. Ann Endocrinol (Paris). 2003 Feb; 64(1):23-5. PMID: 12707628.
      View in: PubMed
    199. 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.
      View in: PubMed
    200. 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.
      View in: PubMed
    201. 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.
      View in: PubMed
    202. 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.
      View in: PubMed
    203. 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.
      View in: PubMed
    204. 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.
      View in: PubMed
    205. 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.
      View in: PubMed
    206. 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.
      View in: PubMed
    207. 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.
      View in: PubMed
    208. 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.
      View in: PubMed
    209. 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.
      View in: PubMed
    210. 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.
      View in: PubMed
    211. 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.
      View in: PubMed
    212. 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.
      View in: PubMed
    213. 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.
      View in: PubMed
    214. 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.
      View in: PubMed
    215. 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.
      View in: PubMed
    216. 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.
      View in: PubMed
    217. 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.
      View in: PubMed
    218. 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.
      View in: PubMed
    219. 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.
      View in: PubMed
    220. 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.
      View in: PubMed
    221. 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.
      View in: PubMed
    222. 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.
      View in: PubMed
    223. 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.
      View in: PubMed
    224. Weiss RE, Refetoff S. Resistance to thyroid hormone. Rev Endocr Metab Disord. 2000 Jan; 1(1-2):97-108. PMID: 11704998.
      View in: PubMed
    225. 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.
      View in: PubMed
    226. 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.
      View in: PubMed
    227. 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.
      View in: PubMed
    228. 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.
      View in: PubMed
    229. 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.
      View in: PubMed
    230. 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.
      View in: PubMed
    231. 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.
      View in: PubMed
    232. 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.
      View in: PubMed
    233. 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.
      View in: PubMed
    234. 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.
      View in: PubMed
    235. 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.
      View in: PubMed
    236. 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.
      View in: PubMed
    237. 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.
      View in: PubMed
    238. 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.
      View in: PubMed
    239. 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.
      View in: PubMed
    240. 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.
      View in: PubMed
    241. 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.
      View in: PubMed
    242. 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.
      View in: PubMed
    243. 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.
      View in: PubMed
    244. 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.
      View in: PubMed
    245. 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.
      View in: PubMed
    246. 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.
      View in: PubMed
    247. 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.
      View in: PubMed
    248. 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.
      View in: PubMed
    249. 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.
      View in: PubMed
    250. 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.
      View in: PubMed
    251. 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.
      View in: PubMed
    252. Abramowicz MJ, Vassart G, Refetoff S. Probing the cause of thyroid dysgenesis. Thyroid. 1997 Jun; 7(3):325-6. PMID: 9226198.
      View in: PubMed
    253. 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.
      View in: PubMed
    254. 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.
      View in: PubMed
    255. 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.
      View in: PubMed
    256. 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.
      View in: PubMed
    257. Refetoff S. Resistance to thyroid hormone. Curr Ther Endocrinol Metab. 1997; 6:132-4. PMID: 9174721.
      View in: PubMed
    258. 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.
      View in: PubMed
    259. 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.
      View in: PubMed
    260. 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.
      View in: PubMed
    261. 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.
      View in: PubMed
    262. 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.
      View in: PubMed
    263. 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.
      View in: PubMed
    264. 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.
      View in: PubMed
    265. 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.
      View in: PubMed
    266. 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.
      View in: PubMed
    267. 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.
      View in: PubMed
    268. 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.
      View in: PubMed
    269. 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.
      View in: PubMed
    270. 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.
      View in: PubMed
    271. 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.
      View in: PubMed
    272. 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.
      View in: PubMed
    273. 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.
      View in: PubMed
    274. 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.
      View in: PubMed
    275. 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.
      View in: PubMed
    276. 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.
      View in: PubMed
    277. 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.
      View in: PubMed
    278. 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.
      View in: PubMed
    279. 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.
      View in: PubMed
    280. 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.
      View in: PubMed
    281. 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.
      View in: PubMed
    282. 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.
      View in: PubMed
    283. 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.
      View in: PubMed
    284. 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.
      View in: PubMed
    285. 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.
      View in: PubMed
    286. 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.
      View in: PubMed
    287. 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, 10-11 July 1993, Cambridge, UK. Clin Endocrinol (Oxf). 1994 May; 40(5):697-700. PMID: 8013151.
      View in: PubMed
    288. 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.
      View in: PubMed
    289. 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.
      View in: PubMed
    290. 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.
      View in: PubMed
    291. 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. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K. J Endocrinol Invest. 1994 Apr; 17(4):283-7. PMID: 7930382.
      View in: PubMed
    292. 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.
      View in: PubMed
    293. Refetoff S. Resistance to thyroid hormone and its molecular basis. Acta Paediatr Jpn. 1994 Feb; 36(1):1-15. PMID: 8165897.
      View in: PubMed
    294. 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.
      View in: PubMed
    295. 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 10-11th 1993, Cambridge, U.K. Thyroid. 1994; 4(1):135-7. PMID: 8054858.
      View in: PubMed
    296. 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.
      View in: PubMed
    297. Refetoff S. Resistance to thyroid hormone: an historical overview. Thyroid. 1994; 4(3):345-9. PMID: 7833674.
      View in: PubMed
    298. Refetoff S. Resistance to thyroid hormone. Curr Ther Endocrinol Metab. 1994; 5:117-9. PMID: 7704693.
      View in: PubMed
    299. Sunthornthepvarakul T, Hayashi Y, Refetoff S. Polymorphism of a variant human thyrotropin receptor (hTSHR) gene. Thyroid. 1994; 4(2):147-9. PMID: 7919995.
      View in: PubMed
    300. 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.
      View in: PubMed
    301. Refetoff S. Resistance to thyroid hormone. Clin Lab Med. 1993 Sep; 13(3):563-81. PMID: 8222575.
      View in: PubMed
    302. Hayashi Y, Mori Y, Janssen OE, Sunthornthepvarakul T, Weiss RE, Takeda K, Weinberg M, Seo H, Bell GI, Refetoff S. Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation. Mol Endocrinol. 1993 Aug; 7(8):1049-60. PMID: 8232304.
      View in: PubMed
    303. Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev. 1993 Jun; 14(3):348-99. PMID: 8319599.
      View in: PubMed
    304. 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.
      View in: PubMed
    305. 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.
      View in: PubMed
    306. 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.
      View in: PubMed
    307. 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.
      View in: PubMed
    308. 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.
      View in: PubMed
    309. 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.
      View in: PubMed
    310. 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.
      View in: PubMed
    311. Takeda K, Weiss RE, Refetoff S. Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. J Clin Endocrinol Metab. 1992 Apr; 74(4):712-9. PMID: 1548332.
      View in: PubMed
    312. 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.
      View in: PubMed
    313. Janssen OE, Bertenshaw R, Takeda K, Weiss R, Refetoff S. Molecular basis of inherited thyroxine-binding globulin defects. Trends Endocrinol Metab. 1992 Mar; 3(2):49-53. PMID: 18407078.
      View in: PubMed
    314. Weiss RE, Refetoff S. Thyroid hormone resistance. Annu Rev Med. 1992; 43:363-75. PMID: 1580595.
      View in: PubMed
    315. 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.
      View in: PubMed
    316. 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.
      View in: PubMed
    317. Ain KB, Refetoff S, Fein HG, Weintraub BD. Pseudomalabsorption of levothyroxine. JAMA. 1991 Oct 16; 266(15):2118-20. PMID: 1920700.
      View in: PubMed
    318. 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.
      View in: PubMed
    319. 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.
      View in: PubMed
    320. 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.
      View in: PubMed
    321. 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.
      View in: PubMed
    322. 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.
      View in: PubMed
    323. 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.
      View in: PubMed
    324. 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.
      View in: PubMed
    325. 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.
      View in: PubMed
    326. 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.
      View in: PubMed
    327. 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.
      View in: PubMed
    328. 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.
      View in: PubMed
    329. 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.
      View in: PubMed
    330. 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.
      View in: PubMed
    331. 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.
      View in: PubMed
    332. 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.
      View in: PubMed
    333. 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.
      View in: PubMed
    334. 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.
      View in: PubMed
    335. Refetoff S. Inherited thyroxine-binding globulin abnormalities in man. Endocr Rev. 1989 Aug; 10(3):275-93. PMID: 2506004.
      View in: PubMed
    336. 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.
      View in: PubMed
    337. 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.
      View in: PubMed
    338. 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.
      View in: PubMed
    339. 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.
      View in: PubMed
    340. 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.
      View in: PubMed
    341. 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.
      View in: PubMed
    342. Refetoff S. The syndrome of generalized resistance to thyroid hormone (GRTH). Endocr Res. 1989; 15(4):717-43. PMID: 2699456.
      View in: PubMed
    343. 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.
      View in: PubMed
    344. 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.
      View in: PubMed
    345. 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.
      View in: PubMed
    346. 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.
      View in: PubMed
    347. 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.
      View in: PubMed
    348. 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.
      View in: PubMed
    349. Ain KB, Mori Y, Refetoff S. Reduced clearance rate of thyroxine-binding globulin (TBG) with increased sialylation: a mechanism for estrogen-induced elevation of serum TBG concentration. J Clin Endocrinol Metab. 1987 Oct; 65(4):689-96. PMID: 3116030.
      View in: PubMed
    350. 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.
      View in: PubMed
    351. 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.
      View in: PubMed
    352. 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.
      View in: PubMed
    353. 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.
      View in: PubMed
    354. 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.
      View in: PubMed
    355. 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.
      View in: PubMed
    356. 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.
      View in: PubMed
    357. 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.
      View in: PubMed
    358. 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.
      View in: PubMed
    359. 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.
      View in: PubMed
    360. 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.
      View in: PubMed
    361. 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.
      View in: PubMed
    362. 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.
      View in: PubMed
    363. 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.
      View in: PubMed
    364. 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.
      View in: PubMed
    365. 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.
      View in: PubMed
    366. 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.
      View in: PubMed
    367. 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.
      View in: PubMed
    368. 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.
      View in: PubMed
    369. 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.
      View in: PubMed
    370. 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.
      View in: PubMed
    371. 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.
      View in: PubMed
    372. 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.
      View in: PubMed
    373. 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.
      View in: PubMed
    374. Refetoff S, Lever EG. The value of serum thyroglobulin measurement in clinical practice. JAMA. 1983 Nov 04; 250(17):2352-7. PMID: 6355525.
      View in: PubMed
    375. 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.
      View in: PubMed
    376. 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.
      View in: PubMed
    377. 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.
      View in: PubMed
    378. 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.
      View in: PubMed
    379. 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.
      View in: PubMed
    380. 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.
      View in: PubMed
    381. 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.
      View in: PubMed
    382. 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.
      View in: PubMed
    383. Refetoff S. Syndromes of thyroid hormone resistance. Am J Physiol. 1982 Aug; 243(2):E88-98. PMID: 6287848.
      View in: PubMed
    384. 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.
      View in: PubMed
    385. 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.
      View in: PubMed
    386. 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.
      View in: PubMed
    387. 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.
      View in: PubMed
    388. 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.
      View in: PubMed
    389. 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.
      View in: PubMed
    390. 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.
      View in: PubMed
    391. 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.
      View in: PubMed
    392. 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.
      View in: PubMed
    393. 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.
      View in: PubMed
    394. 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.
      View in: PubMed
    395. 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.
      View in: PubMed
    396. 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.
      View in: PubMed
    397. 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.
      View in: PubMed
    398. 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.
      View in: PubMed
    399. 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.
      View in: PubMed
    400. Refetoff S, DeGroot LJ, Skosey C. Postirradiation screening for thyroid nodules. JAMA. 1980 Mar 21; 243(11):1131-2. PMID: 7359658.
      View in: PubMed
    401. 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.
      View in: PubMed
    402. 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.
      View in: PubMed
    403. 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.
      View in: PubMed
    404. 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.
      View in: PubMed
    405. 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.
      View in: PubMed
    406. 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.
      View in: PubMed
    407. 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.
      View in: PubMed
    408. 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.
      View in: PubMed
    409. 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.
      View in: PubMed
    410. 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.
      View in: PubMed
    411. 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.
      View in: PubMed
    412. 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.
      View in: PubMed
    413. 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.
      View in: PubMed
    414. 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.
      View in: PubMed
    415. 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.
      View in: PubMed
    416. 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.
      View in: PubMed
    417. 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.
      View in: PubMed
    418. 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.
      View in: PubMed
    419. Bernal J, Refetoff S. The action of thyroid hormone. Clin Endocrinol (Oxf). 1977 Mar; 6(3):227-49. PMID: 322895.
      View in: PubMed
    420. 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.
      View in: PubMed
    421. 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.
      View in: PubMed
    422. 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.
      View in: PubMed
    423. 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.
      View in: PubMed
    424. 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.
      View in: PubMed
    425. 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.
      View in: PubMed
    426. 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.
      View in: PubMed
    427. 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.
      View in: PubMed
    428. 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.
      View in: PubMed
    429. 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.
      View in: PubMed
    430. Refetoff S. Thyroid hormone therapy. Med Clin North Am. 1975 Sep; 59(5):1147-62. PMID: 1099361.
      View in: PubMed
    431. 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.
      View in: PubMed
    432. 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.
      View in: PubMed
    433. 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.
      View in: PubMed
    434. Scherberg NH, Refetoff S. Radioiodine labeling of ribopolymers for special applications in biology. Methods Cell Biol. 1975; 10:343-59. PMID: 1186506.
      View in: PubMed
    435. 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.
      View in: PubMed
    436. 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.
      View in: PubMed
    437. 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.
      View in: PubMed
    438. 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.
      View in: PubMed
    439. 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.
      View in: PubMed
    440. 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.
      View in: PubMed
    441. 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.
      View in: PubMed
    442. 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.
      View in: PubMed
    443. 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.
      View in: PubMed
    444. 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.
      View in: PubMed
    445. Wall AJ, Levinson JD, Refetoff S. Hyperthyroidism and adult celiac disease. Am J Gastroenterol. 1973 Oct; 60(4):387-93. PMID: 4758296.
      View in: PubMed
    446. Gottesman RL, Refetoff S. Diagnosis and management of thyroid diseases in pregnancy. J Reprod Med. 1973 Jul; 11(1):19-22. PMID: 4717609.
      View in: PubMed
    447. 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.
      View in: PubMed
    448. 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.
      View in: PubMed
    449. 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.
      View in: PubMed
    450. 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.
      View in: PubMed
    451. 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.
      View in: PubMed
    452. 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.
      View in: PubMed
    453. 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.
      View in: PubMed
    454. 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.
      View in: PubMed
    455. 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.
      View in: PubMed
    456. 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.
      View in: PubMed
    457. 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.
      View in: PubMed
    458. 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.
      View in: PubMed
    459. 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.
      View in: PubMed
    460. Alper CA, Robin NI, Refetoff S. Genetic polymorphism in rhesus C3 and Gc globulin. J Immunol. 1971 Jul; 107(1):96-8. PMID: 4103922.
      View in: PubMed
    461. 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.
      View in: PubMed
    462. 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.
      View in: PubMed
    463. 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.
      View in: PubMed
    464. 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.
      View in: PubMed
    465. 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.
      View in: PubMed
    466. 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.
      View in: PubMed
    467. 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.
      View in: PubMed
    468. 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.
      View in: PubMed
    469. 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.
      View in: PubMed
    470. 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.
      View in: PubMed
    471. 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.
      View in: PubMed
    472. Selenkow HA, Refetoff S. Common tests of thyroid function in serum. JAMA. 1967 Oct 09; 202(2):135-6. PMID: 4167374.
      View in: PubMed
    473. Selenkow HA, Wool MS, Refetoff S. Radioimmunoassay of anterior pituitary hormones. Radiol Clin North Am. 1967 Aug; 5(2):317-31. PMID: 4317743.
      View in: PubMed
    474. 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.
      View in: PubMed
    Refetoff's Networks
    Click the "See All" links for more information and interactive visualizations!
    Concepts Expand Description
    See all (1152) concept(s)
    _
    Co-Authors Expand Description
    See all (28) people
    _
    Similar People Expand Description
    See all (60) people
    _
    Same Department Expand Description
    Search Department
    Physical Neighbors Expand Description
    _