Samuel Refetoff - Publications

Affiliations: 
University of Chicago, Chicago, IL 
Area:
Genetics, Human Development, Neuroscience Biology

466 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 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 : Official Journal of the American Thyroid Association. PMID 34652970 DOI: 10.1089/thy.2021.0461  1
2021 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 : Official Journal of the American Thyroid Association. PMID 34470464 DOI: 10.1089/thy.2021.0195  1
2021 Furman AE, Hannoush Z, Barrera Echegoyen FX, Dumitrescu AM, Refetoff S, Weiss RE. Novel DIO1 gene mutation acting as phenotype modifier for novel compound heterozygous TPO gene mutations causing congenital hypothyroidism. Thyroid : Official Journal of the American Thyroid Association. PMID 34128397 DOI: 10.1089/thy.2021.0210  1
2021 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 T3 level and the T3 to reverse T3 ratio in dried blood spot samples at birth may facilitate early detection of monocarboxylate transporter 8 deficiency. Thyroid : Official Journal of the American Thyroid Association. PMID 34049438 DOI: 10.1089/thy.2020.0696  1
2021 Pappa T, Refetoff S. Resistance to Thyroid Hormone Beta: A Focused Review. Frontiers in Endocrinology. 12: 656551. PMID 33868182 DOI: 10.3389/fendo.2021.656551  1
2020 Chaves C, Bruinstroop E, Refetoff S, Yen PM, Anselmo JD. INCREASED HEPATIC FAT CONTENT IN PATIENTS WITH RESISTANCE TO THYROID HORMONE BETA. Thyroid : Official Journal of the American Thyroid Association. PMID 33353459 DOI: 10.1089/thy.2020.0651  1
2020 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, et al. SWI/SNF complex mutations promote thyroid tumor progression and insensitivity to redifferentiation therapies. Cancer Discovery. PMID 33318036 DOI: 10.1158/2159-8290.CD-20-0735  1
2020 Furman AE, Dumitrescu AM, Refetoff S, Weiss RE. Early diagnosis and treatment of an infant with a novel THRA gene (pC380SfsX9) mutation. Thyroid : Official Journal of the American Thyroid Association. PMID 33198587 DOI: 10.1089/thy.2020.0695  1
2020 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 SH. Prenatal treatment of thyroid hormone cell membrane transport defect caused by MCT8 gene mutation. Thyroid : Official Journal of the American Thyroid Association. PMID 32746752 DOI: 10.1089/Thy.2020.0306  1
2020 Franca MM, German A, Gustavo FW, Liao XH, Bianco AC, Refetoff S, Dumitrescu AM. Human type 1 Iodothyronine deiodinase (DIO1) mutations cause abnormal thyroid hormone metabolism. Thyroid : Official Journal of the American Thyroid Association. PMID 32718224 DOI: 10.1089/Thy.2020.0253  1
2020 Ziros PG, Renaud CO, Chartoumpekis DV, Bongiovanni M, Habeos I, 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 : Official Journal of the American Thyroid Association. PMID 32689903 DOI: 10.1089/Thy.2020.0044  1
2020 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. 15: e0236113. PMID 32687511 DOI: 10.1371/Journal.Pone.0236113  1
2020 Refetoff S. Re: "Goiter in Residents of Salta, Argentina: An Artistic Rendition" by Jonklaas et al. (Thyroid 2020:30;34-36). Thyroid : Official Journal of the American Thyroid Association. PMID 32131708 DOI: 10.1089/Thy.2020.0093  0.01
2020 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 TSHβ. Hormone Research in Paediatrics. 1-5. PMID 31914441 DOI: 10.1159/000504981  1
2020 Franca MM, Levine RL, Pappa T, Ilaka-Chibuluzo S, Rothberger GD, Dumitrescu AM, Refetoff S. Non-autoimmune hyperthyroidism caused by a somatic mosaic GNAS gene mutation involving part of the thyroid gland. Thyroid : Official Journal of the American Thyroid Association. PMID 31910104 DOI: 10.1089/Thy.2019.0471  1
2020 Lozanov B, Gorcheva D, Lozanov LB, Koleva V, Refetoff S. INSUFFICIENCY OF LEVOTHYROXINE THERAPY IN AUTOIMMUNE HYPOTHYROIDISM: EFFECT OF GLUCOCORTICOID ADMINISTRATION. Acta Endocrinologica (Bucharest, Romania : 2005). 13: 515-518. PMID 31149227 DOI: 10.4183/aeb.2017.515  0.01
2020 França MM, Liao XH, Fernandes GW, German A, Bianco AC, Refetoff S, Dumitrescu A. OR01-01 Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism Journal of the Endocrine Society. 4. DOI: 10.1210/Jendso/Bvaa046.966  1
2020 Chaves CM, Bruinstroop E, Refetoff S, Yen PM, Anselmo J. OR01-06 Resistance to Thyroid Hormone Beta Is Associated with an Increase in Hepatic Fat Measured by Transient Elastography (Fibroscan®) with Controlled Attenuation Parameter (CAP) Journal of the Endocrine Society. 4. DOI: 10.1210/Jendso/Bvaa046.780  1
2019 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. European Thyroid Journal. 8: 293-297. PMID 31934554 DOI: 10.1159/000503860  1
2019 Bruellman RJ, Watanabe Y, Ebrhim RS, Abdullah MA, Dumitrescu AM, Strauss BS, Refetoff S, Weiss RE. Insertion of an Alu element in the thyroglobulin gene as a novel cause of congenital hypothyroidism. Thyroid : Official Journal of the American Thyroid Association. PMID 31868128 DOI: 10.1089/Thy.2019.0636  1
2019 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. The Journal of Clinical Endocrinology and Metabolism. PMID 31867598 DOI: 10.1210/Clinem/Dgz297  1
2019 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 : Official Journal of the American Thyroid Association. PMID 31856685 DOI: 10.1089/Thy.2018.0703  1
2019 Refetoff S, Scherberg N, 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 : Official Journal of the American Thyroid Association. PMID 31822224 DOI: 10.1089/Thy.2019.0058  1
2019 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. 14: e0226017. PMID 31809508 DOI: 10.1371/Journal.Pone.0226017  1
2019 Grieco G, Wang T, Delcorte O, Spourquet C, Janssens V, Strickaert A, Gaide Chevronnay H, Liao XH, Bilanges B, Refetoff S, Vanhaesebroeck B, Maenhaut C, Courtoy PJ, Pierreux CE. Vps34 PI 3-kinase controls thyroid hormone production by regulating thyroglobulin iodination, lysosomal proteolysis and tissue homeostasis. Thyroid : Official Journal of the American Thyroid Association. PMID 31650902 DOI: 10.1089/Thy.2019.0182  1
2019 Kohler H, Latteyer S, Hoenes S, Theurer S, Liao XH, Christoph S, Zwanziger D, Schulte JH, Kero J, Undeutsch H, Refetoff S, Schmid KW, Fuehrer D, Moeller LC. Increased ALK activity induces a poorly differentiated thyroid carcinoma in mice. Thyroid : Official Journal of the American Thyroid Association. PMID 31526103 DOI: 10.1089/Thy.2018.0526  1
2019 Fujisawa H, Gagné J, Dumitrescu AM, Refetoff S. Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid : Official Journal of the American Thyroid Association. PMID 31432759 DOI: 10.1089/Thy.2019.0095  1
2019 Ikegami K, Refetoff S, Van Cauter E, Yoshimura T. Interconnection between circadian clocks and thyroid function. Nature Reviews. Endocrinology. PMID 31406343 DOI: 10.1038/S41574-019-0237-Z  1
2019 Mimoto MS, Refetoff S. Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations. Journal of Endocrinological Investigation. 43: 31-41. PMID 31352644 DOI: 10.1007/S40618-019-01084-9  1
2019 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 (GSD Ia). Thyroid : Official Journal of the American Thyroid Association. PMID 31337282 DOI: 10.1089/Thy.2019.0007  1
2019 Anselmo JD, Scherberg N, Dumitrescu AM, Refetoff S. Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along Human Male Line. Thyroid : Official Journal of the American Thyroid Association. PMID 30938226 DOI: 10.1089/Thy.2019.0080  1
2019 Anselmo J, Scherberg N, Dumitrescu A, Refetoff S. OR10-5 Reduced Sensitivity to Thyroid Hormone Due to Fetal Exposure to High Thyroid Hormone Levels Is Transmitted along Male Line to Two Subsequent Generations Journal of the Endocrine Society. 3. DOI: 10.1210/Js.2019-Or10-5  1
2018 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 : Official Journal of the American Thyroid Association. PMID 30375286 DOI: 10.1089/Thy.2018.0295  1
2018 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, ... ... Refetoff S, et al. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. Jci Insight. 3. PMID 30333321 DOI: 10.1172/Jci.Insight.99631  1
2018 Pappa T, Refetoff S. Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ). Methods in Molecular Biology (Clifton, N.J.). 1801: 225-240. PMID 29892828 DOI: 10.1007/978-1-4939-7902-8_18  1
2018 Ziros PG, Habeos I, 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, ... ... Refetoff S, et al. The NFE2-related transcription factor 2 (Nrf2) coordinates antioxidant defense with thyroglobulin production and iodination in the thyroid gland. Thyroid : Official Journal of the American Thyroid Association. PMID 29742982 DOI: 10.1089/Thy.2018.0018  1
2018 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 Medical Genetics. 19: 69. PMID 29720101 DOI: 10.1186/S12881-018-0588-7  1
2018 Mimoto MS, Karaca A, Scherberg N, Dumitrescu AM, Refetoff S. Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid : Official Journal of the American Thyroid Association. PMID 29676214 DOI: 10.1089/Thy.2017.0564  1
2018 Williams G, Boelen A, Refetoff S. 13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action. Thyroid : Official Journal of the American Thyroid Association. PMID 29580183 DOI: 10.1089/Thy.2018.0173  0.01
2018 Shareef R, Watanabe Y, Creech MK, Bis DM, Züchner S, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. AB022. *Genetic analysis of 11 Sudanese families with congenital hypothyroidism Pediatric Medicine. 1: AB022-AB022. DOI: 10.21037/pm.2018.AB022  1
2017 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, ... ... Refetoff S, et al. Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo. Proceedings of the National Academy of Sciences of the United States of America. PMID 29229863 DOI: 10.1073/Pnas.1706801115  1
2017 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. The Journal of Clinical Investigation. PMID 29083325 DOI: 10.1172/Jci94417  1
2017 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. Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association. PMID 28954305 DOI: 10.1055/S-0043-119875  1
2017 Pappa T, Anselmo J, Mamanasiri S, Dumitrescu AM, Weiss RE, Refetoff S. Prenatal diagnosis of resistance to thyroid hormone and its clinical implications. The Journal of Clinical Endocrinology and Metabolism. PMID 28938413 DOI: 10.1210/Jc.2017-01251  1
2017 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. European Thyroid Journal. 6: 138-142. PMID 28785540 DOI: 10.1159/000455097  1
2017 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. Molecular and Cellular Endocrinology. PMID 28652169 DOI: 10.1016/J.Mce.2017.06.023  1
2017 Grasberger H, Refetoff S. Resistance to thyrotropin. Best Practice & Research. Clinical Endocrinology & Metabolism. 31: 183-194. PMID 28648507 DOI: 10.1016/J.Beem.2017.03.004  1
2017 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. PMID 28637283 DOI: 10.1210/En.2017-00399  1
2017 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 (TH) levels causes central resistance to TH in adult humans and mice. The Journal of Clinical Endocrinology and Metabolism. PMID 28586435 DOI: 10.1210/Jc.2017-00019  1
2017 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, ... ... Refetoff S, et al. Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier. Cell Stem Cell. PMID 28526555 DOI: 10.1016/J.Stem.2017.04.002  0.01
2017 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. PMID 28472304 DOI: 10.1210/En.2017-00250  1
2017 Ohba K, Sinha RA, Leow MK, Iannucci LF, Singh BK, Zhou J, Kovalik JP, Liao XH, Refetoff S, Sng JCG, Yen PM. Changes in hepatic TRβ protein expression, lipogenic gene expression, and long chain acylcarnitine levels during chronic hyperthyroidism and T3 withdrawal in a mouse model. Thyroid : Official Journal of the American Thyroid Association. PMID 28457184 DOI: 10.1089/Thy.2016.0456  1
2017 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. PMID 28324000 DOI: 10.1210/En.2016-1788  1
2017 Srichomkwun P, Scherberg NH, Jakšić J, Refetoff S. Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies. Aace Clinical Case Reports. 3: e22-e25. PMID 28078322 DOI: 10.4158/Ep151142.Cr  1
2016 Neamţu C, Ţupea C, Păun D, Hoisescu A, Ghemigian A, Refetoff S, Sriphrapradang C. A new TRβ mutation in resistance to thyroid hormone syndrome. Hormones (Athens, Greece). 15: 534-539. PMID 28222413 DOI: 10.14310/Horm.2002.1700  1
2016 Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S. DUOX2 gene mutation manifesting as resistance to thyrotropin (RTSH) phenotype. Thyroid : Official Journal of the American Thyroid Association. PMID 27821020 DOI: 10.1089/Thy.2016.0469  1
2016 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 : Official Journal of the American Thyroid Association. PMID 27758132 DOI: 10.1089/Thy.2016.0450  1
2016 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 IL-4 in the thyroid of transgenic mice upregulates the expression of Duox1 and the anion transporter pendrin. Thyroid : Official Journal of the American Thyroid Association. PMID 27599561 DOI: 10.1089/Thy.2016.0106  1
2016 Iwayama H, Liao XH, Braun L, Bárez-López S, Kaspar B, Weiss R, Dumitrescu AM, Guadaño-Ferraz A, Refetoff S. Adeno associated virus 9-based gene therapy delivers a functional monocarboxylate transporter 8 (MCT8) which improves thyroid hormone availability to brain of Mct8 deficient mice. Thyroid : Official Journal of the American Thyroid Association. PMID 27432638 DOI: 10.1089/Thy.2016.0060  1
2016 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. Hormone Research in Paediatrics. PMID 27207603 DOI: 10.1159/000445891  1
2016 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, et al. Thyroid follicle development requires Smad1/Smad5- and endothelial-dependent basement membrane assembly. Development (Cambridge, England). PMID 27068110 DOI: 10.1242/Jcs.193029  1
2016 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 : Official Journal of the American Thyroid Association. PMID 26914863 DOI: 10.1089/Thy.2015.0034  1
2016 Ohba K, Khee-Shing Leow M, Singh BK, Sinha RA, Lesmana R, Liao XH, Ghosh S, Refetoff S, Ghee Sng JC, Yen PM. Desensitization and incomplete recovery of hepatic target genes after chronic thyroid hormone treatment and withdrawal in male adult mice. Endocrinology. en20151848. PMID 26866609 DOI: 10.1210/En.2015-1848  1
2016 Chevronnay HP, Janssens V, Van Der Smissen P, Rocca C, Liao XH, Refetoff S, Pierreux CE, Cherqui S, Courtoy PJ. Hematopoietic stem cells transplantation can normalize thyroid function in a cystinosis mouse model. Endocrinology. en20151762. PMID 26812160 DOI: 10.1210/En.2015-1762  1
2016 Leung EK, Yi X, Refetoff S, Yeo KT. Diiodothyropropionic acid (DITPA) cross-reacts with thyroid function assays on different immunoassay platforms. Clinica Chimica Acta; International Journal of Clinical Chemistry. 453: 203-4. PMID 26683355 DOI: 10.1016/J.Cca.2015.12.008  1
2016 KUTLU O, LARSEN CC, GREENBERG SM, FERRARA AM, SEVİMLİ BURNIK F, REFETOFF S, DURAN C. FALSE ELEVATION OF FREE THYROXINE AND TRIIODOTHYRONINE DUE TO THE PRESENCE OF ANTIBODIES TO IODOTHYRONINES İStanbul TıP FaküLtesi Dergisi. 79: 51. DOI: 10.18017/iuitfd.01011  1
2016 Chevronnay HPG, Janssens V, Van Der Smissen P, Rocca CJ, Liao X, Refetoff S, Pierreux CE, Cherqui S, Courtoy PJ. 163. Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model Molecular Therapy. 24: S64. DOI: 10.1016/S1525-0016(16)32972-0  1
2016 Leung EKY, Yi X, Refetoff S, Yeo KTJ. Diiodothyropropionic acid (DITPA) cross-reacts with thyroid function assays on different immunoassay platforms Clinica Chimica Acta. 453: 203-204. DOI: 10.1016/j.cca.2015.12.008  1
2015 Pappa T, Ferrara AM, Refetoff S. Inherited defects of thyroxine-binding proteins. Best Practice & Research. Clinical Endocrinology & Metabolism. 29: 735-47. PMID 26522458 DOI: 10.1016/J.Beem.2015.09.002  1
2015 Ferrara AM, Liao XH, Ye H, Weiss RE, Dumitrescu AM, Refetoff S. The thyroid hormone analogue DITPA ameliorates metabolic parameters of male mice with Mct8 deficiency. Endocrinology. en20151234. PMID 26322373 DOI: 10.1210/En.2015-1234  1
2015 Pappa T, Johannesen J, Scherberg N, Torrent M, Dumitrescu A, Refetoff S. A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid : Official Journal of the American Thyroid Association. 25: 869-76. PMID 25950606 DOI: 10.1089/Thy.2015.0096  1
2015 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. 156: 2349-64. PMID 25811319 DOI: 10.1210/En.2014-1672  1
2015 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. The Journal of Clinical Endocrinology and Metabolism. 100: E173-81. PMID 25361180 DOI: 10.1210/Jc.2014-3490  1
2015 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. Journal of Pediatric Endocrinology & Metabolism : Jpem. 28: 241-5. PMID 25153218 DOI: 10.1515/Jpem-2014-0019  1
2014 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. International Journal of Pediatric Endocrinology. 2014: 23. PMID 25873976 DOI: 10.1186/1687-9856-2014-23  1
2014 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 Reports. 9: 801-10. PMID 25437536 DOI: 10.1016/J.Celrep.2014.10.006  1
2014 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. The Journal of Clinical Endocrinology and Metabolism. 99: E2799-804. PMID 25222753 DOI: 10.1210/Jc.2014-2162  1
2014 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. 155: 4088-93. PMID 25051435 DOI: 10.1210/En.2014-1085  1
2014 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. Endocrine-Related Cancer. 21: 755-67. PMID 25012986 DOI: 10.1530/Erc-14-0268  1
2014 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, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. European Thyroid Journal. 3: 7-9. PMID 24847459 DOI: 10.1159/000358180  1
2014 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, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. The Journal of Clinical Endocrinology and Metabolism. 99: 768-70. PMID 24823702 DOI: 10.1210/Jc.2013-3393  1
2014 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, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid : Official Journal of the American Thyroid Association. 24: 407-9. PMID 24588711 DOI: 10.1089/Thy.2013.3393.Nomen  1
2014 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 : Official Journal of the American Thyroid Association. 24: 945-50. PMID 24494774 DOI: 10.1089/Thy.2013.0540  1
2014 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, et al. American Thyroid Association Guide to investigating thyroid hormone economy and action in rodent and cell models. Thyroid : Official Journal of the American Thyroid Association. 24: 88-168. PMID 24001133 DOI: 10.1089/Thy.2013.0109  1
2014 Elbüken G, Karaca Z, Tanriverdi F, Unluhizarci K, Refetoff S, Keleştimur F. Circulating antibodies to T4 causing discordant tests of thyroid function: A case report Turkish Journal of Endocrinology and Metabolism. 18: 19-22. DOI: 10.4274/tjem.2290  1
2013 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. 8: e74621. PMID 24098341 DOI: 10.1371/Journal.Pone.0074621  1
2013 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. 154: 4885-95. PMID 24029243 DOI: 10.1210/En.2013-1150  1
2013 Fu J, Refetoff S, Dumitrescu AM. Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings. Current Opinion in Endocrinology, Diabetes, and Obesity. 20: 434-40. PMID 23974772 DOI: 10.1097/01.Med.0000432531.03233.Ad  1
2013 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. 23: 1638-1643. PMID 23806029 DOI: 10.1089/Thy.2013.0174  1
2013 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. 154: 2533-41. PMID 23696569 DOI: 10.1210/En.2012-2031  1
2013 Ferrara AM, Cakir M, Henry PH, Refetoff S. Coexistence of THRB and TBG gene mutations in a Turkish family. The Journal of Clinical Endocrinology and Metabolism. 98: E1148-51. PMID 23633200 DOI: 10.1210/Jc.2013-1413  1
2013 Ünlütürk U, Sriphrapradang C, Erdoğan 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. The Journal of Clinical Endocrinology and Metabolism. 98: 2210-7. PMID 23553855 DOI: 10.1210/Jc.2012-4142  1
2013 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. Journal of Pediatric Endocrinology & Metabolism : Jpem. 26: 119-23. PMID 23457313 DOI: 10.1515/Jpem-2012-0287  1
2013 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 : Official Journal of the American Thyroid Association. 23: 791-6. PMID 23308388 DOI: 10.1089/Thy.2012.0141  1
2013 Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochimica Et Biophysica Acta. 1830: 3987-4003. PMID 22986150 DOI: 10.1016/J.Bbagen.2012.08.005  1
2013 Moeller L, Ferrara A, Görges R, Hakman M, Jaeger A, Refetoff S, Führer D. One novel and one rediscovered mutation in patients with resistance to thyroid hormone Experimental and Clinical Endocrinology & Diabetes. 121. DOI: 10.1055/S-0033-1336649  1
2012 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. 491: 66-71. PMID 23051751 DOI: 10.1038/Nature11525  1
2012 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. 153: 6145-54. PMID 23024261 DOI: 10.1210/En.2011-1435  1
2012 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. The Journal of Clinical Endocrinology and Metabolism. 97: 4515-23. PMID 22993035 DOI: 10.1210/Jc.2012-2556  1
2012 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. 153: 2514-25. PMID 22454152 DOI: 10.1210/En.2011-1365  1
2012 Ferrara AM, Onigata K, Ercan O, Woodhead H, Weiss RE, Refetoff S. Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. The Journal of Clinical Endocrinology and Metabolism. 97: 1328-36. PMID 22319036 DOI: 10.1210/Jc.2011-2642  1
2012 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 : Official Journal of the American Thyroid Association. 22: 252-7. PMID 22313426 DOI: 10.1089/Thy.2011.0402  1
2012 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. Molecular Endocrinology (Baltimore, Md.). 26: 481-92. PMID 22301785 DOI: 10.1210/Me.2011-1320  1
2012 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. 70: 70-80; discussion 80. PMID 21772221 DOI: 10.1227/Neu.0B013E31822Dda2C  1
2012 Yamazaki CA, Camacho CP, Andreoni DM, Padovani RP, Ikejiri ES, Mamone MCOM, Aldighieri FC, Wagner J, Mehanna R, Murphy MS, Sheahan P, Hidal JT, Vieira JGH, Biscolla RPM, Maciel RMB, ... ... Refetoff S, et al. Front & Back Matter European Thyroid Journal. 1. DOI: 10.1159/000341866  1
2011 Plateroti M, Bernal J, Refetoff S, Sachs L. Thyroid hormones and their receptors: from development to disease. Journal of Thyroid Research. 2011: 284737. PMID 22570805 DOI: 10.4061/2011/284737  1
2011 Sriphrapradang C, German A, Dumitrescu AM, Refetoff S. Consecutive Mutational Events in a Thyroid Stimulating Hormone (TSH) Receptor Allele of Arab Families with Resistance to TSH. Thyroid. 22: 252-7. PMID 22313426 DOI: 10.1089/Thy.2011-0402  1
2011 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. 2: 1109-26. PMID 22190384 DOI: 10.18632/Oncotarget.380  1
2011 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. The Journal of Clinical Investigation. 121: 4700-11. PMID 22105174 DOI: 10.1172/Jci46382  1
2011 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. Proceedings of the National Academy of Sciences of the United States of America. 108: E1321-9. PMID 22065740 DOI: 10.1073/Pnas.1109926108  1
2011 Grasberger H, Refetoff S. Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Current Opinion in Pediatrics. 23: 421-8. PMID 21543982 DOI: 10.1097/Mop.0B013E32834726A4  1
2011 Dumitrescu AM, Refetoff S. Inherited defects of thyroid hormone metabolism. Annales D'Endocrinologie. 72: 95-8. PMID 21511232 DOI: 10.1016/J.Ando.2011.03.011  1
2011 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. The Journal of Clinical Endocrinology and Metabolism. 96: E1001-6. PMID 21490078 DOI: 10.1210/Jc.2011-0127  1
2011 Hermanns P, Grasberger H, Refetoff S, Pohlenz J. Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. The Journal of Clinical Endocrinology and Metabolism. 96: E977-81. PMID 21450989 DOI: 10.1210/Jc.2010-2341  1
2011 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. The Journal of Clinical Endocrinology and Metabolism. 96: E841-5. PMID 21367925 DOI: 10.1210/Jc.2010-2321  1
2011 Barca-Mayo O, Liao XH, Alonso M, Di Cosmo C, Hernandez A, Refetoff S, Weiss RE. Thyroid hormone receptor α and regulation of type 3 deiodinase. Molecular Endocrinology (Baltimore, Md.). 25: 575-83. PMID 21292823 DOI: 10.1210/Jcem.96.3.Zeg873  1
2011 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. 152: 1180-91. PMID 21285310 DOI: 10.1210/En.2010-0900  1
2011 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 Proceedings of the National Academy of Sciences of the United States of America. 108: 1615-1620. PMID 21220306 DOI: 10.1073/Pnas.1015557108  1
2011 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 β and phosphatidylinositol 3-kinase activation. Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association. 119: 81-5. PMID 20827662 DOI: 10.1055/S-0030-1262860  1
2010 Di Cosmo C, Liao XH, Dumitrescu AM, Philp NJ, Weiss RE, Refetoff S. Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. The Journal of Clinical Investigation. 120: 3377-88. PMID 20679730 DOI: 10.1172/Jci42113  1
2010 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. 29: 5678-86. PMID 20676139 DOI: 10.1038/Onc.2010.308  1
2010 Weiss RE, Dumitrescu A, Refetoff S. Approach to the patient with resistance to thyroid hormone and pregnancy. The Journal of Clinical Endocrinology and Metabolism. 95: 3094-102. PMID 20610605 DOI: 10.1210/Jc.2010-0409  1
2010 Barkoff MS, Kocherginsky M, Anselmo J, Weiss RE, Refetoff S. Autoimmunity in patients with resistance to thyroid hormone. The Journal of Clinical Endocrinology and Metabolism. 95: 3189-93. PMID 20444926 DOI: 10.1210/Jc.2009-2179  1
2010 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. 5: e9853. PMID 20352046 DOI: 10.1371/Journal.Pone.0009853  1
2010 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. 151: 2381-7. PMID 20211971 DOI: 10.1210/En.2009-0944  1
2010 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. Developmental Medicine and Child Neurology. 52: 475-82. PMID 19811520 DOI: 10.1111/J.1469-8749.2009.03471.X  1
2010 Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S. The syndrome of inherited partial SBP2 deficiency in humans. Antioxidants & Redox Signaling. 12: 905-20. PMID 19769464 DOI: 10.1089/Ars.2009.2892  1
2010 Mirsaeidghazi AA, Refetoff S. 1105 Thyroid Hormone Resistance in An Iranian Family Presenting with Goiter and Neurologic Abnormalities: Report of the Mutation Pediatric Research. 68: 548-548. DOI: 10.1203/00006450-201011001-01105  0.01
2010 Weiss RE, Dumitrescu AM, Refetoff S. Syndromes of Reduced Sensitivity to Thyroid Hormone Genetic Diagnosis of Endocrine Disorders. 105-116+330. DOI: 10.1016/B978-0-12-374430-2.00010-9  1
2009 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). The Journal of Clinical Endocrinology and Metabolism. 94: 4003-9. PMID 19602558 DOI: 10.1210/Jc.2009-0686  1
2009 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. 150: 4450-8. PMID 19497976 DOI: 10.1210/En.2009-0209  1
2009 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 : Official Journal of the American Thyroid Association. 19: 639-44. PMID 19445627 DOI: 10.1089/Thy.2008.0293  1
2009 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. 150: 3927-34. PMID 19406944 DOI: 10.1210/En.2009-0093  1
2009 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 Research. 69: 3689-94. PMID 19351816 DOI: 10.1158/0008-5472.Can-09-0024  1
2009 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 : Official Journal of the American Thyroid Association. 19: 277-81. PMID 19265499 DOI: 10.1089/Thy.2008.0397  1
2009 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. The Journal of Clinical Endocrinology and Metabolism. 94: 1706-12. PMID 19240155 DOI: 10.1210/Jc.2008-1938  1
2009 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 : Official Journal of the American Thyroid Association. 19: 187-91. PMID 19191749 DOI: 10.1089/Thy.2008.0302  1
2009 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. 150: 2491-6. PMID 19147674 DOI: 10.1210/En.2008-1616  1
2009 Janssen OE, Bertenshaw R, Takeda K, Weiss R, Refetoff S. Molecular basis of inherited thyroxine-binding globulin defects. Trends in Endocrinology and Metabolism: Tem. 3: 49-53. PMID 18407078 DOI: 10.1016/1043-2760(92)90043-Z  1
2009 Weiss RE, Refetoff S. Syndromes of resistance to thyroid hormone Clinical Management of Thyroid Disease. 299-315. DOI: 10.1016/B978-1-4160-4745-2.00021-3  1
2008 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. Journal of Pediatric Endocrinology & Metabolism : Jpem. 21: 479-86. PMID 18655531 DOI: 10.1515/Jpem.2008.21.5.479  1
2008 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. Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association. 117: 34-7. PMID 18561095 DOI: 10.1055/S-2008-1076712  1
2008 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. 121: e199-202. PMID 18166539 DOI: 10.1542/Peds.2007-1247  1
2008 Refetoff S. Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone. Nature Clinical Practice. Endocrinology & Metabolism. 4: 1. PMID 18084342 DOI: 10.1038/Ncpendmet0703  0.01
2008 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. The Journal of Clinical Endocrinology and Metabolism. 93: 605-10. PMID 18042646 DOI: 10.1210/Jc.2007-2020  1
2008 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. The Journal of Clinical Endocrinology and Metabolism. 93: 267-77. PMID 17940114 DOI: 10.1210/Jc.2007-0539  1
2008 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. Molecular Endocrinology (Baltimore, Md.). 22: 501-12. PMID 17932107 DOI: 10.1210/Me.2007-0221  1
2007 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. 148: 5680-7. PMID 17823249 DOI: 10.1210/En.2007-0652  1
2007 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. 148: 5305-12. PMID 17690164 DOI: 10.1210/En.2007-0677  1
2007 Dumitrescu AM, Refetoff S. Novel biological and clinical aspects of thyroid hormone metabolism. Endocrine Development. 10: 127-39. PMID 17684394 DOI: 10.1159/000106824  1
2007 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. 148: 4727-33. PMID 17640981 DOI: 10.1210/En.2007-0236  1
2007 Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Practice & Research. Clinical Endocrinology & Metabolism. 21: 277-305. PMID 17574009 DOI: 10.1016/J.Beem.2007.03.005  1
2007 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. The Journal of Clinical Endocrinology and Metabolism. 92: 2816-20. PMID 17456567 DOI: 10.1210/Jc.2007-0366  1
2007 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. Clinical Endocrinology. 66: 695-702. PMID 17381485 DOI: 10.1111/J.1365-2265.2007.02804.X  1
2007 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. Molecular Endocrinology (Baltimore, Md.). 21: 1408-21. PMID 17374849 DOI: 10.1210/Me.2007-0018  1
2007 Moeller L, Janssen S, Jaeger A, Dumitrescu A, Refetoff S, Mann K, Janssen O. A three nucleotide difference in the HNF-1 binding site of the thyroxine-binding globulin (TBG) promoter causes low TBG expression in dog Experimental and Clinical Endocrinology & Diabetes. 115. DOI: 10.1055/S-2007-972272  1
2007 Moeller L, Haselhorst N, Dumitrescu A, Refetoff S, Mann K, Janssen O. Induction of aldo-keto reductase 1C1–3 (AKR1C1–3) by thyroid hormone requires the TRβ and activation of the MAPK pathway Experimental and Clinical Endocrinology & Diabetes. 115. DOI: 10.1055/S-2007-972232  1
2006 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 Pharmacological Reviews. 58: 705-711. PMID 17132849 DOI: 10.1124/Pr.58.4.3  1
2006 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. Journal of Molecular Medicine (Berlin, Germany). 84: 864-71. PMID 16947003 DOI: 10.1007/S00109-006-0078-9  1
2006 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. Nuclear Receptor Signaling. 4: e020. PMID 16862226 DOI: 10.1621/Nrs.04020  1
2006 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. The Journal of Clinical Endocrinology and Metabolism. 91: 3471-7. PMID 16804041 DOI: 10.1210/Jc.2006-0727  1
2006 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. 147: 4036-43. PMID 16709608 DOI: 10.1210/En.2006-0390  1
2006 Grasberger H, Refetoff S. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. The Journal of Biological Chemistry. 281: 18269-72. PMID 16651268 DOI: 10.1074/Jbc.C600095200  1
2006 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. The Journal of Clinical Endocrinology and Metabolism. 91: 1887-95. PMID 16464943 DOI: 10.1210/Jc.2005-2428  1
2006 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). General and Comparative Endocrinology. 146: 236-41. PMID 16426605 DOI: 10.1016/J.Ygcen.2005.11.013  1
2006 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). Molecular Endocrinology (Baltimore, Md.). 20: 893-903. PMID 16339276 DOI: 10.1210/Me.2005-0339  1
2006 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. The Journal of Biological Chemistry. 281: 5000-7. PMID 16339138 DOI: 10.1074/Jbc.M511530200  1
2006 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. American Journal of Physiology. Cell Physiology. 290: C1160-7. PMID 16306127 DOI: 10.1152/Ajpcell.00382.2005  1
2006 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. The Journal of Clinical Endocrinology and Metabolism. 91: 270-6. PMID 16263811 DOI: 10.1210/Jc.2005-2012  1
2006 Moeller L, Ulanowski N, Dumitrescu A, Refetoff S, Mann K, Janssen O. Stanniocalcin 1 is induced by thyroid hormone via cytosolic action of the thyroid hormone receptor β Experimental and Clinical Endocrinology & Diabetes. 114. DOI: 10.1055/S-2006-932883  1
2005 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. Irish Journal of Medical Science. 174: 60-4. PMID 16445164 DOI: 10.1007/Bf03168985  1
2005 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. Nature Genetics. 37: 1247-52. PMID 16228000 DOI: 10.1038/Ng1654  1
2005 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 Human Genetics. 118: 348-355. PMID 16189712 DOI: 10.1007/S00439-005-0036-6  1
2005 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. The Journal of Clinical Investigation. 115: 2517-23. PMID 16100573 DOI: 10.1172/Jci24109  1
2005 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). The Journal of Laboratory and Clinical Medicine. 146: 85-94. PMID 16099238 DOI: 10.1016/J.Lab.2005.04.005  1
2005 Grasberger H, Ringkananont U, Croxson M, Refetoff S. Resistance to thyroid hormone in a patient with thyroid dysgenesis. Thyroid : Official Journal of the American Thyroid Association. 15: 730-3. PMID 16053391 DOI: 10.1089/Thy.2005.15.730  1
2005 Moeller LC, Dumitrescu AM, Refetoff S. Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes. Molecular Endocrinology (Baltimore, Md.). 19: 2955-63. PMID 16051672 DOI: 10.1210/Me.2004-0542  1
2005 Aksoy DY, Gurlek A, Ringkananont U, Weiss RE, Refetoff S. Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family Journal of Endocrinological Investigation. 28: 379-383. PMID 15966514 DOI: 10.1007/Bf03347207  1
2005 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 Research. 65: 4238-45. PMID 15899815 DOI: 10.1158/0008-5472.Can-05-0047  1
2005 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. The Journal of Clinical Endocrinology and Metabolism. 90: 4025-34. PMID 15870119 DOI: 10.1210/Jc.2005-0572  1
2005 Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. Journal of Neurology. 252: 663-6. PMID 15834651 DOI: 10.1007/S00415-005-0713-3  1
2005 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. Molecular Endocrinology (Baltimore, Md.). 19: 1779-91. PMID 15718293 DOI: 10.1210/Me.2004-0426  1
2005 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. The Journal of Clinical Endocrinology and Metabolism. 90: 1760-7. PMID 15598685 DOI: 10.1210/Jc.2004-1488  1
2005 Moeller LC, Dumitrescu AM, Walker RL, Meltzer PS, Refetoff S. Thyroid hormone responsive genes in cultured human fibroblasts. The Journal of Clinical Endocrinology and Metabolism. 90: 936-43. PMID 15507505 DOI: 10.1210/Jc.2004-1768  1
2005 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. Molecular Endocrinology (Baltimore, Md.). 19: 102-12. PMID 15388791 DOI: 10.1210/Me.2004-0093  1
2005 Mohammed IA, Aldasouqi S, Schnute R, Refetoff S, Weiss RE, Iqbal N. The syndrome of resistance to thyroid hormone, misdiagnosed and treated as thyrotoxicosis. Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. 4: 391-5. PMID 15251715 DOI: 10.4158/Ep.4.6.391  1
2005 Brockmann K, Dumitrescu A, Best T, Hanefeld F, Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defective thyroid hormone transporter MCT8 Neuropediatrics. 36. DOI: 10.1055/s-2005-867976  1
2005 Moeller L, Dumitrescu A, Walker R, Meltzer P, Refetoff S. Identification of thyroid hormone target genes in human cells Experimental and Clinical Endocrinology & Diabetes. 113. DOI: 10.1055/S-2005-863002  1
2005 Refetoff S, Weiss RE, Anselmo J. Fetal Loss Associated With Excess Thyroid Hormone Exposure—Reply Jama. 293: 160-161. DOI: 10.1001/Jama.293.2.161-A  1
2004 Kim J, Reutrakul S, Davis DB, Kaplan EL, Refetoff S. Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess. European Journal of Endocrinology / European Federation of Endocrine Societies. 151: 771-7. PMID 15588245 DOI: 10.1530/Eje.0.1510771  1
2004 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. Molecular Endocrinology (Baltimore, Md.). 18: 3020-34. PMID 15319453 DOI: 10.1210/Me.2004-0231  1
2004 Anselmo J, Cao D, Karrison T, Weiss RE, Refetoff S. Fetal loss associated with excess thyroid hormone exposure. Jama. 292: 691-5. PMID 15304465 DOI: 10.1001/Jama.292.6.691  1
2004 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. Journal of Pediatric Endocrinology & Metabolism : Jpem. 17: 1021-9. PMID 15301052 DOI: 10.1515/Jpem.2004.17.7.1021  1
2004 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. The Journal of Clinical Endocrinology and Metabolism. 89: 4136-41. PMID 15292359 DOI: 10.1210/Jc.2004-0494  1
2004 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 β1 (TRβ1) Journal of Endocrinological Investigation. 27: 318-322. PMID 15233549 DOI: 10.1007/Bf03351055  1
2004 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 : Official Journal of the American Thyroid Association. 14: 311-9. PMID 15142366 DOI: 10.1089/105072504323030988  1
2004 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. The Journal of Clinical Endocrinology and Metabolism. 89: 2477-83. PMID 15126580 DOI: 10.1210/Jc.2003-031613  1
2004 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. European Journal of Endocrinology / European Federation of Endocrine Societies. 150: 371-80. PMID 15012624 DOI: 10.1530/Eje.0.1500371  1
2004 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 : Official Journal of the American Thyroid Association. 14: 71-4. PMID 15009917 DOI: 10.1089/105072504322783876  1
2004 Refetoff S. Resistance to thyrotropin. Journal of Endocrinological Investigation. 26: 770-9. PMID 14669836 DOI: 10.1007/Bf03347364  0.01
2004 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. American Journal of Human Genetics. 74: 168-75. PMID 14661163 DOI: 10.1086/380999  1
2004 Moeller L, Cao X, Kambe F, Seo H, Refetoff S. The TRβ mediated non-genomic ZAKI4 α induction is abrogated in resistance to thyroid hormones Experimental and Clinical Endocrinology & Diabetes. 112. DOI: 10.1055/S-2004-819054  1
2003 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. Clinical Endocrinology. 59: 824-5. PMID 14974930 DOI: 10.1046/J.1365-2265.2003.01924.X  1
2003 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. Proceedings of the National Academy of Sciences of the United States of America. 100: 14858-63. PMID 14657389 DOI: 10.1073/Pnas.2432267100  1
2003 Refetoff S. The syndrome of resistance to thyroid stimulating hormone. Journal of the Chinese Medical Association : Jcma. 66: 441-52. PMID 14604307  0.01
2003 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. Clinical Endocrinology. 59: 500-6. PMID 14510914 DOI: 10.1046/J.1365-2265.2003.01877.X  1
2003 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 : Official Journal of the American Thyroid Association. 13: 649-52. PMID 12964970 DOI: 10.1089/105072503322239998  1
2003 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. The Journal of Clinical Investigation. 112: 588-97. PMID 12925699 DOI: 10.1172/Jci18377  1
2003 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. Molecular Endocrinology (Baltimore, Md.). 17: 2295-302. PMID 12907760 DOI: 10.1210/Me.2003-0175  1
2003 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 : Official Journal of the American Thyroid Association. 13: 409-12. PMID 12804112 DOI: 10.1089/105072503321669938  1
2003 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 Reports. 4: 581-7. PMID 12776178 DOI: 10.1038/Sj.Embor.Embor862  1
2003 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. Human Reproduction (Oxford, England). 18: 1094-9. PMID 12721190 DOI: 10.1093/Humrep/Deg210  1
2003 Janssen OE, Quadbeck B, Refetoff S. Resistenz gegen TSH/Resistance to Thyrotropin Laboratoriumsmedizin. 27: 60-66. DOI: 10.1515/LabMed.2003.010  1
2002 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). General and Comparative Endocrinology. 127: 48-58. PMID 12161201 DOI: 10.1016/S0016-6480(02)00021-7  1
2002 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. American Journal of Physiology. Endocrinology and Metabolism. 283: E326-31. PMID 12110538 DOI: 10.1152/Ajpendo.00313.2001  1
2002 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. 143: 1554-7. PMID 11897715 DOI: 10.1210/Endo.143.4.8828  1
2002 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. 143: 1346-52. PMID 11897691 DOI: 10.1210/Endo.143.4.8730  1
2002 Janssen OE, Golcher HM, Grasberger H, Saller B, Mann K, Refetoff S. Characterization of T(4)-binding globulin cleaved by human leukocyte elastase. The Journal of Clinical Endocrinology and Metabolism. 87: 1217-22. PMID 11889191 DOI: 10.1210/Jcem.87.3.8332  1
2002 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 Journal of Clinical Endocrinology and Metabolism. 87: 1045-1051. PMID 11889160 DOI: 10.1210/Jcem.87.3.8275  1
2002 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 Journal of Clinical Investigation. 109: 469-473. PMID 11854318 DOI: 10.1172/Jci14192  1
2002 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. Molecular and Cellular Endocrinology. 186: 27-35. PMID 11850119 DOI: 10.1016/S0303-7207(01)00679-7  1
2002 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. The Journal of Clinical Endocrinology and Metabolism. 87: 336-9. PMID 11788671 DOI: 10.1210/Jcem.87.1.8154  1
2002 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. The Journal of Endocrinology. 172: 177-85. PMID 11786385 DOI: 10.1677/Joe.0.1720177  1
2001 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. The Journal of Pediatrics. 139: 887-91. PMID 11743520 DOI: 10.1067/Mpd.2001.119594  1
2001 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. 142: 5131-9. PMID 11713206 DOI: 10.1210/En.142.12.5131  1
2001 Weiss RE, Refetoff S. Resistance to thyroid hormone. Reviews in Endocrine & Metabolic Disorders. 1: 97-108. PMID 11704998 DOI: 10.1023/A:1010072605757  1
2001 Reutrakul S, Janssen OE, Refetoff S. Three novel mutations causing complete T(4)-binding globulin deficiency. The Journal of Clinical Endocrinology and Metabolism. 86: 5039-44. PMID 11600582 DOI: 10.1210/Jcem.86.10.7916  1
2001 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. The Journal of Clinical Endocrinology and Metabolism. 86: 4273-5. PMID 11549661 DOI: 10.1210/Jcem.86.9.7858  1
2001 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. Molecular Endocrinology (Baltimore, Md.). 15: 1529-38. PMID 11518802 DOI: 10.1210/Mend.15.9.0687  1
2001 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. Molecular and Cellular Biology. 21: 4748-60. PMID 11416150 DOI: 10.1128/Mcb.21.14.4748-4760.2001  1
2001 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. European Journal of Endocrinology. 144: 611-8. PMID 11375795 DOI: 10.1530/Eje.0.1440611  1
2001 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. Proceedings of the National Academy of Sciences of the United States of America. 98: 349-54. PMID 11120878 DOI: 10.1073/Pnas.011306998  1
2000 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. Proceedings of the National Academy of Sciences of the United States of America. 97: 13209-14. PMID 11069286 DOI: 10.1073/Pnas.230285997  1
2000 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. The Journal of Clinical Endocrinology and Metabolism. 85: 3609-17. PMID 11061510 DOI: 10.1210/Jcem.85.10.6873  1
2000 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. The Journal of Clinical Endocrinology and Metabolism. 85: 2786-92. PMID 10946882 DOI: 10.1210/Jcem.85.8.6746  1
2000 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. The Journal of Clinical Endocrinology and Metabolism. 85: 2366-9. PMID 10902780 DOI: 10.1210/Jcem.85.7.6700  1
2000 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 : Official Journal of the American Thyroid Association. 10: 387-91. PMID 10884185 DOI: 10.1089/Thy.2000.10.387  1
2000 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. The Journal of Clinical Investigation. 105: 803-11. PMID 10727449 DOI: 10.1172/Jci7665  1
2000 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 : Official Journal of the American Thyroid Association. 9: 1265-71. PMID 10646670 DOI: 10.1089/Thy.1999.9.1265  1
2000 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. The Journal of Clinical Endocrinology and Metabolism. 85: 368-72. PMID 10634412 DOI: 10.1210/Jcem.85.1.6317  1
2000 Refetoff S, Sadow PM, Reutrakul S, Dennis K, Mannavola D, Pohlenz J, Weiss RE. Resistance to Thyroid Hormone in the Absence of Mutations in the Thyroid Hormone Receptor Genes Current Opinion in Endocrinology & Diabetes. 7: 89-107. DOI: 10.1007/978-1-4020-7852-1_6  1
1999 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 : Official Journal of the American Thyroid Association. 9: 1195-203. PMID 10646658 DOI: 10.1089/Thy.1999.9.1195  1
1999 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 Proceedings of the National Academy of Sciences of the United States of America. 96: 14623-14628. PMID 10588755 DOI: 10.1073/Pnas.96.25.14623  1
1999 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. The Journal of Clinical Endocrinology and Metabolism. 84: 3919-28. PMID 10566629 DOI: 10.1210/Jcem.84.11.6080  1
1999 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 : Official Journal of the American Thyroid Association. 9: 1001-4. PMID 10560954 DOI: 10.1089/Thy.1999.9.1001  1
1999 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 : Official Journal of the American Thyroid Association. 9: 995-1000. PMID 10560953 DOI: 10.1089/Thy.1999.9.995  1
1999 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 : Official Journal of the American Thyroid Association. 9: 959-67. PMID 10524577 DOI: 10.1089/Thy.1999.9.959  1
1999 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 : Official Journal of the American Thyroid Association. 9: 887-94. PMID 10524567 DOI: 10.1089/Thy.1999.9.887  1
1999 Pohlenz J, Refetoff S. Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism. Biochimie. 81: 469-76. PMID 10403177 DOI: 10.1016/S0300-9084(99)80097-2  1
1999 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. The Embo Journal. 18: 1900-4. PMID 10202153 DOI: 10.1093/Emboj/18.7.1900  1
1999 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. The Journal of Clinical Endocrinology and Metabolism. 84: 1061-71. PMID 10084596 DOI: 10.1210/Jcem.84.3.5541  1
1999 Weiss RE, Refetoff S. Treatment of resistance to thyroid hormone--primum non nocere. The Journal of Clinical Endocrinology and Metabolism. 84: 401-4. PMID 10022391 DOI: 10.1210/Jcem.84.2.5534  1
1998 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 β-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. 139: 4945-4952. PMID 28204239 DOI: 10.1210/Endo.139.12.6412  1
1998 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). The Journal of Clinical Endocrinology and Metabolism. 83: 3604-8. PMID 9768672 DOI: 10.1210/Jcem.83.10.5208  1
1998 Sunthornthepvarakul T, Likitmaskul S, Ngowngarmratana S, Angsusingha K, Kitvitayasak S, Scherberg NH, Refetoff S. Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. The Journal of Clinical Endocrinology and Metabolism. 83: 1448-54. PMID 9589637 DOI: 10.1210/Jcem.83.5.4815  1
1998 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. Biochemical and Biophysical Research Communications. 245: 204-10. PMID 9535809 DOI: 10.1006/Bbrc.1998.8396  1
1998 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 : Official Journal of the American Thyroid Association. 8: 161-5. PMID 9510125 DOI: 10.1089/Thy.1998.8.161  1
1998 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. The Journal of Clinical Investigation. 101: 1028-35. PMID 9486973 DOI: 10.1172/Jci1504  1
1998 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 : Official Journal of the American Thyroid Association. 7: 905-7. PMID 9459636 DOI: 10.1089/Thy.1997.7.905  1
1998 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. The Journal of Clinical Endocrinology and Metabolism. 82: 3933-40. PMID 9398691 DOI: 10.1210/Jcem.82.12.4418  1
1997 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. Biochemical and Biophysical Research Communications. 240: 488-91. PMID 9388506 DOI: 10.1006/Bbrc.1997.7594  1
1997 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 : Official Journal of the American Thyroid Association. 7: 771-3. PMID 9349582 DOI: 10.1089/Thy.1997.7.771  1
1997 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. 138: 3624-9. PMID 9275045 DOI: 10.1210/Endo.138.9.5412  1
1997 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. Molecular and Cellular Endocrinology. 131: 59-66. PMID 9256364 DOI: 10.1016/S0303-7207(97)00089-0  1
1997 Sreenan S, Caro JF, Refetoff S. Thyroid dysfunction is not associated with alterations in serum leptin levels. Thyroid : Official Journal of the American Thyroid Association. 7: 407-9. PMID 9226211 DOI: 10.1089/Thy.1997.7.407  1
1997 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. 7: 389-393. PMID 9226208 DOI: 10.1089/Thy.1997.7.389  1
1997 Abramowicz MJ, Vassart G, Refetoff S. Probing the cause of thyroid dysgenesis. Thyroid : Official Journal of the American Thyroid Association. 7: 325-6. PMID 9226198 DOI: 10.1089/Thy.1997.7.325  1
1997 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. The Journal of Clinical Endocrinology and Metabolism. 82: 1608-14. PMID 9141558 DOI: 10.1210/Jcem.82.5.3945  1
1997 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 : Official Journal of the American Thyroid Association. 7: 35-8. PMID 9086567 DOI: 10.1089/Thy.1997.7.35  1
1997 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 : Official Journal of the American Thyroid Association. 6: 589-93. PMID 9001193 DOI: 10.1089/Thy.1996.6.589  0.01
1997 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 : Official Journal of the American Thyroid Association. 6: 571-3. PMID 9001191 DOI: 10.1089/Thy.1996.6.571  1
1997 Weiss RE, Refetoff S. Effect of thyroid hormone on growth. Lessons from the syndrome of resistance to thyroid hormone. Endocrinology and Metabolism Clinics of North America. 25: 719-30. PMID 8879995 DOI: 10.1016/S0889-8529(05)70349-2  1
1997 Heptulla R, Marchione KE, Shaywitz SE, Shaywitz BA, Sakurai A, Refetoff S, Carpenter TO. NEUROCOGNITIVE STUDIES OF A KINDRED WITH RESISTANCE TO THYROID HORMONE (RTH) REVEAL ABNORMALITIES IN LANGUAGE DECODING SKILLS. † 389 Pediatric Research. 41: 67-67. DOI: 10.1203/00006450-199704001-00409  1
1996 Refetoff S, Murata Y, Mori Y, Janssen OE, Takeda K, Hayashi Y. Thyroxine-binding globulin: organization of the gene and variants. Hormone Research. 45: 128-38. PMID 8964571 DOI: 10.1159/000184775  1
1996 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 α or β genes may be due to a defective cofactor Journal of Clinical Endocrinology and Metabolism. 81: 4196-4203. PMID 8954015 DOI: 10.1210/Jcem.81.12.8954015  1
1996 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 : Official Journal of the American Thyroid Association. 6: 311-2. PMID 8875752 DOI: 10.1089/Thy.1996.6.311  1
1996 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. The Journal of Clinical Endocrinology and Metabolism. 81: 3802-6. PMID 8855841 DOI: 10.1210/Jc.81.10.3802  1
1996 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. Molecular Endocrinology (Baltimore, Md.). 10: 100-6. PMID 8838149 DOI: 10.1210/Mend.10.1.8838149  1
1996 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. The Journal of Clinical Endocrinology and Metabolism. 81: 3335-40. PMID 8784093 DOI: 10.1210/Jcem.81.9.8784093  1
1996 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 : Official Journal of the American Thyroid Association. 6: 23-8. PMID 8777380 DOI: 10.1089/Thy.1996.6.23  1
1996 Tonacchera M, Cetani F, Costagliola S, Van Sande J, Refetoff S, Vassart G. Functional characteristics of a variant thyrotropin receptor. European Journal of Biochemistry. 238: 490-4. PMID 8681963 DOI: 10.1111/J.1432-1033.1996.0490Z.X  1
1996 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. The Journal of Clinical Endocrinology and Metabolism. 80: 3744-9. PMID 8530628 DOI: 10.1210/Jcem.80.12.8530628  1
1996 Janssen OE, Chen B, Büttner C, Refetoff S, Scriba PC. Molecular and structural characterization of the heat-resistant thyroxine-binding globulin-Chicago. The Journal of Biological Chemistry. 270: 28234-8. PMID 7499319 DOI: 10.1074/Jbc.270.47.28234  1
1996 Rosenfield RL, Rosenthal IM, Refetoff S, Rich BH, Barnes RB, Sunthornthepvarakul T, Parma J. CLINICAL-MOLECULAR CORRELATES IN A MOTHER AND 2 SONS WITH A CONSTITUTIVELY ACTIVATING MUTATION OF THE LUTEINIZING HORMONE (LH) RECEPTOR (LHR). † 569 Pediatric Research. 39: 97-97. DOI: 10.1203/00006450-199604001-00590  1
1995 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. The American Journal of Physiology. 269: E1006-16. PMID 8572190 DOI: 10.1152/Ajpendo.1995.269.6.E1006  1
1995 Refetoff S. Resistance to thyroid hormone: an historical overview. Thyroid : Official Journal of the American Thyroid Association. 4: 345-9. PMID 7833674 DOI: 10.1089/Thy.1994.4.345  0.01
1995 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 : Official Journal of the American Thyroid Association. 4: 249-54. PMID 7833659 DOI: 10.1089/Thy.1994.4.249  1
1995 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. The Journal of Clinical Endocrinology and Metabolism. 80: 116-21. PMID 7829599 DOI: 10.1210/Jcem.80.1.7829599  1
1995 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. 136: 2845-51. PMID 7789309 DOI: 10.1210/Endo.136.7.7789309  1
1995 Bergmann BM, Gilliland MA, Balzano S, Refetoff S, Rechtschaffen A. Sleep deprivation in the rat: XIX. Effects of thyroxine administration. Sleep. 18: 317-24. PMID 7676163 DOI: 10.1093/Sleep/18.5.317  1
1995 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. The Biochemical Journal. 309: 837-43. PMID 7639700 DOI: 10.1042/Bj3090837  1
1995 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? The Journal of Clinical Endocrinology and Metabolism. 80: 3246-56. PMID 7593433 DOI: 10.1210/Jcem.80.11.7593433  1
1995 Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. The New England Journal of Medicine. 332: 155-60. PMID 7528344 DOI: 10.1056/Nejm199501193320305  1
1995 STEIN MA, WEISS RE, REFETOFF S. Neurocognitive Characteristics of Individuals with Resistance to Thyroid Hormone Journal of Developmental & Behavioral Pediatrics. 16: 406???411. DOI: 10.1097/00004703-199512000-00003  1
1995 Refetoff S. Thyrotropin-receptor gene Biomedicine & Pharmacotherapy. 49: 312. DOI: 10.1016/0753-3322(96)82653-9  0.01
1994 Refetoff S. How clinical observations of a congenital disease can be translated in terms of molecular biology. Perspectives in Biology and Medicine. 37: 315-26. PMID 8202340 DOI: 10.1353/Pbm.1994.0043  0.01
1994 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 β gene Journal of Clinical Endocrinology and Metabolism. 78: 1525-1528. PMID 8200958 DOI: 10.1210/Jcem.78.6.8200958  1
1994 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. The Journal of Clinical Endocrinology and Metabolism. 78: 1253-6. PMID 8175986 DOI: 10.1210/Jcem.78.5.8175986  1
1994 Refetoff S. Resistance to thyroid hormone and its molecular basis. Acta Paediatrica Japonica : Overseas Edition. 36: 1-15. PMID 8165897 DOI: 10.1111/J.1442-200X.1994.Tb03121.X  0.01
1994 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. European Journal of Endocrinology / European Federation of Endocrine Societies. 130: 426-8. PMID 8162176 DOI: 10.1530/Eje.0.1300426  1
1994 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. The Journal of Clinical Endocrinology and Metabolism. 78: 990-3. PMID 8157732 DOI: 10.1210/Jcem.78.4.8157732  1
1994 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. Clinical Endocrinology. 40: 221-6. PMID 8137521 DOI: 10.1111/J.1365-2265.1994.Tb02472.X  1
1994 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 : Official Journal of the American Thyroid Association. 4: 135-7. PMID 8054858 DOI: 10.1089/Thy.1994.4.135  1
1994 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. Biochemical and Biophysical Research Communications. 202: 781-7. PMID 8048949 DOI: 10.1006/Bbrc.1994.1998  1
1994 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. Journal of Clinical Investigation. 94: 607-615. PMID 8040316 DOI: 10.1172/Jci117376  1
1994 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. The American Journal of Physiology. 266: E964-74. PMID 8023928 DOI: 10.1152/Ajpendo.1994.266.6.E964  1
1994 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. The American Journal of Physiology. 266: E953-63. PMID 8023927 DOI: 10.1152/Ajpendo.1994.266.6.E953  1
1994 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. Clinical Endocrinology. 40: 697-700. PMID 8013151 DOI: 10.1111/J.1365-2265.1994.Tb03024.X  1
1994 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. Journal of Endocrinological Investigation. 17: 283-7. PMID 7930382 DOI: 10.1007/BF03348977  1
1994 Sunthornthepvarakul T, Hayashi Y, Refetoff S. Polymorphism of a variant human thyrotropin receptor (hTSHR) gene. Thyroid : Official Journal of the American Thyroid Association. 4: 147-9. PMID 7919995 DOI: 10.1089/Thy.1994.4.147  1
1994 Refetoff S. Resistance to thyroid hormone is a manifestation of thyroid hormone receptor defects Current Opinion in Endocrinology and Diabetes. 1: 155-166. DOI: 10.1097/00060793-199400010-00029  0.01
1993 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. The Journal of Clinical Investigation. 91: 2408-15. PMID 8514853 DOI: 10.1172/Jci116474  1
1993 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. The Journal of Clinical Endocrinology and Metabolism. 76: 64-9. PMID 8421105 DOI: 10.1210/Jcem.76.1.8421105  1
1993 Weiss RE, Marcocci C, Bruno-Bossio G, Refetoff S. Multiple genetic factors in the heterogeneity of thyroid hormone resistance. The Journal of Clinical Endocrinology and Metabolism. 76: 257-9. PMID 8421095 DOI: 10.1210/Jcem.76.1.8421095  1
1993 Weiss RE, Stein MA, Trommer B, Refetoff S. Attention-deficit hyperactivity disorder and thyroid function The Journal of Pediatrics. 123: 539-545. PMID 8410504 DOI: 10.1016/S0022-3476(05)80947-3  1
1993 Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocrine Reviews. 14: 348-99. PMID 8319599 DOI: 10.1210/Edrv-14-3-348  1
1993 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. Molecular Endocrinology (Baltimore, Md.). 7: 1049-60. PMID 8232304 DOI: 10.1210/Mend.7.8.8232304  1
1993 Refetoff S. Resistance to Thyroid Hormone Clinics in Laboratory Medicine. 13: 563-581. DOI: 10.1016/B978-0-12-801238-3.96013-6  0.01
1992 Usala SJ, Bercu BB, Refetoff S. Diverse abnormalities of the c-erbA beta thyroid hormone receptor gene in generalized thyroid hormone resistance. Advances in Experimental Medicine and Biology. 299: 251-8. PMID 1810141 DOI: 10.1007/978-1-4684-5973-9_15  1
1992 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-β gene Journal of Clinical Endocrinology and Metabolism. 74: 49-55. PMID 1727829 DOI: 10.1210/Jcem.74.1.1727829  1
1992 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. Molecular Endocrinology (Baltimore, Md.). 6: 443-9. PMID 1584218 DOI: 10.1210/Mend.6.3.1584218  1
1992 Weiss RE, Refetoff S. Thyroid hormone resistance. Annual Review of Medicine. 43: 363-75. PMID 1580595 DOI: 10.1146/Annurev.Me.43.020192.002051  1
1992 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. The Journal of Clinical Endocrinology and Metabolism. 74: 712-9. PMID 1548332 DOI: 10.1210/Jcem.74.4.1548332  1
1992 Bertenshaw R, Sarne D, Tornari J, Weinberg M, Refetoff S. Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions. Biochimica Et Biophysica Acta. 1139: 307-10. PMID 1515456 DOI: 10.1016/0925-4439(92)90105-V  1
1992 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. The Journal of Clinical Investigation. 90: 1825-31. PMID 1430208 DOI: 10.1172/Jci116058  1
1992 Refetoff S. Clinical and Genetic Aspects of Resistance to Thyroid Hormone The Endocrinologist. 2: 261-272. DOI: 10.1097/00019616-199207000-00008  0.01
1991 Robin NI, Hagen SR, Collaço F, Refetoff S, Selenkow HA. Serum tests for measurement of thyroid function. Hormones. 2: 266-79. PMID 5006665 DOI: 10.1159/000178240  1
1991 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 β gene and the detection of a new mutation Journal of Clinical Investigation. 87: 496-502. PMID 1991834 DOI: 10.1172/Jci115023  1
1991 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: Clinical and Experimental. 40: 1231-4. PMID 1943753 DOI: 10.1016/0026-0495(91)90221-H  1
1991 Ain KB, Refetoff S, Fein HG, Weintraub BD. Pseudomalabsorption of Levothyroxine Jama: the Journal of the American Medical Association. 266: 2118-2120. PMID 1920700 DOI: 10.1001/Jama.1991.03470150090036  1
1991 Janssen OE, Takeda K, Refetoff S. Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency. Human Genetics. 87: 119-22. PMID 1906047 DOI: 10.1007/Bf00204164  1
1991 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. 14: 201-10. PMID 1896721 DOI: 10.1093/sleep/14.3.201  1
1991 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. The Journal of Clinical Investigation. 88: 934-42. PMID 1885778 DOI: 10.1172/Jci115396  1
1991 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 Journal of Clinical Endocrinology and Metabolism. 73: 843-849. PMID 1653784 DOI: 10.1210/Jcem-73-4-843  1
1990 Refetoff S. The syndrome of generalized resistance to thyroid hormone (GRTH). Endocrine Research. 15: 717-43. PMID 2699456 DOI: 10.3109/07435808909036358  0.01
1990 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. 127: 882-90. PMID 2373059 DOI: 10.1210/endo-127-2-882  1
1990 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. 13: 218-31. PMID 2356394 DOI: 10.1093/Sleep/13.3.218  1
1990 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 Journal of Clinical Endocrinology and Metabolism. 70: 804-809. PMID 2155256 DOI: 10.1210/Jcem-70-3-804  1
1990 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. Journal of Endocrinological Investigation. 13: 343-9. PMID 2115061 DOI: 10.1007/Bf03349576  1
1990 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. The Journal of Clinical Endocrinology and Metabolism. 70: 1305-11. PMID 2110573 DOI: 10.1210/Jcem-70-5-1305  1
1990 Sakurai A, Miyamoto T, Refetoff S, DeGroot LJ. Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-β in a family with generalized resistance to thyroid hormone Molecular Endocrinology. 4: 1988-1994. PMID 2082193 DOI: 10.1210/Mend-4-12-1988  1
1989 Sarne DH, Refetoff S. Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin. The Journal of Clinical Endocrinology and Metabolism. 67: 1166-70. PMID 3142912 DOI: 10.1210/Jcem-67-6-1166  1
1989 Barsano CP, Angulo M, Burke SF, Refetoff S. Leukocyte alkaline phosphatase in hypothyroidism and hyperthyroidism. Response to initiation of thyroxine replacement therapy. Metabolism: Clinical and Experimental. 38: 311-4. PMID 2725274 DOI: 10.1016/0026-0495(89)90116-9  1
1989 Everson CA, Gilliland MA, Kushida CA, Pilcher JJ, Fang VS, Refetoff S, Bergmann BM, Rechtschaffen A. Sleep deprivation in the rat: IX. Recovery. Sleep. 12: 60-7. PMID 2538911 DOI: 10.1093/Sleep/12.1.60  1
1989 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. 12: 31-41. PMID 2538910 DOI: 10.1093/Sleep/12.1.31  1
1989 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 β Proceedings of the National Academy of Sciences of the United States of America. 86: 8977-8981. PMID 2510172 DOI: 10.1073/Pnas.86.22.8977  1
1989 Refetoff S. Inherited thyroxine-binding globulin abnormalities in man. Endocrine Reviews. 10: 275-93. PMID 2506004 DOI: 10.1210/Edrv-10-3-275  0.01
1989 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. Molecular Endocrinology (Baltimore, Md.). 3: 575-9. PMID 2501669 DOI: 10.1210/Mend-3-3-575  1
1989 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. The Journal of Clinical Investigation. 83: 1344-8. PMID 2495303 DOI: 10.1172/Jci114021  1
1989 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. The Journal of Clinical Endocrinology and Metabolism. 68: 114-9. PMID 2491856 DOI: 10.1210/Jcem-68-1-114  1
1988 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. The Journal of Clinical Endocrinology and Metabolism. 66: 740-6. PMID 3346353 DOI: 10.1210/Jcem-66-4-740  1
1988 Ain KB, Refetoff S. Relationship of oligosaccharide modification to the cause of serum thyroxine-binding globulin excess. The Journal of Clinical Endocrinology and Metabolism. 66: 1037-43. PMID 3129446 DOI: 10.1210/Jcem-66-5-1037  1
1988 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. The Journal of Clinical Endocrinology and Metabolism. 67: 727-33. PMID 2901429 DOI: 10.1210/Jcem-67-4-727  1
1988 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. Molecular Endocrinology (Baltimore, Md.). 2: 313-23. PMID 2837662 DOI: 10.1210/Mend-2-4-313  1
1987 Murata Y, Ceccarelli P, Refetoff S, Horwitz AL, Matsui N. Thyroid hormone inhibits fibronectin synthesis by cultured human skin fibroblasts. The Journal of Clinical Endocrinology and Metabolism. 64: 334-9. PMID 3793852 DOI: 10.1210/Jcem-64-2-334  1
1987 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. The Journal of Clinical Endocrinology and Metabolism. 65: 242-6. PMID 3597704 DOI: 10.1210/Jcem-65-2-242  1
1987 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. The Journal of Clinical Endocrinology and Metabolism. 65: 689-96. PMID 3116030 DOI: 10.1210/Jcem-65-4-689  1
1987 Takamatsu J, Refetoff S, Charbonneau M, Dussault JH. Two new inherited defects of the thyroxine-binding globulin (TBG) molecule presenting as partial TBG deficiency. The Journal of Clinical Investigation. 79: 833-40. PMID 3102557 DOI: 10.1172/Jci112891  1
1986 Refetoff S, Dwulet FE, Benson MD. Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy. The Journal of Clinical Endocrinology and Metabolism. 63: 1432-7. PMID 3097057 DOI: 10.1210/Jcem-63-6-1432  0.01
1986 Takamatsu J, Refetoff S. Inherited heat-stable variant thyroxine-binding globulin (TBG-Chicago). The Journal of Clinical Endocrinology and Metabolism. 63: 1140-4. PMID 3093522 DOI: 10.1210/Jcem-63-5-1140  1
1986 Takamatsu J, Ando M, Weinberg M, Refetoff S. Isoelectric focusing variant thyroxine-binding globulin in American blacks: increased heat lability and reduced serum concentration. The Journal of Clinical Endocrinology and Metabolism. 63: 80-7. PMID 3086361 DOI: 10.1210/Jcem-63-1-80  1
1986 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. The New England Journal of Medicine. 314: 694-9. PMID 3081807 DOI: 10.1056/Nejm198603133141107  1
1986 Murata Y, Magner JA, Refetoff S. The role of glycosylation in the molecular conformation and secretion of thyroxine-binding globulin. Endocrinology. 118: 1614-21. PMID 3081330 DOI: 10.1210/Endo-118-4-1614  1
1986 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. 35: 861-868. PMID 3018426 DOI: 10.1016/0026-0495(86)90229-5  1
1986 Schroeder HR, Johnson PK, Dean CL, Morris DL, Smith D, Refetoff S. Homogeneous apoenzyme reactivation immunoassay for thyroxin-binding globulin in serum. Clinical Chemistry. 32: 826-830. DOI: 10.1093/Clinchem/32.5.826  0.01
1985 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. The Journal of Clinical Endocrinology and Metabolism. 61: 1046-52. PMID 3932446 DOI: 10.1210/jcem-61-6-1046  1
1985 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. Journal of Endocrinological Investigation. 8: 225-32. PMID 3928734 DOI: 10.1007/Bf03348482  1
1985 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. Journal of Endocrinological Investigation. 8: 217-24. PMID 3928733 DOI: 10.1007/Bf03348481  1
1985 Scherberg NH, Barokas K, Murata Y, Refetoff S. Direct application of radioiodinated aminoacyl tRNA for radiolabeling nascent proteins. Analytical Biochemistry. 147: 503-10. PMID 3925814 DOI: 10.1016/0003-2697(85)90305-7  1
1985 Refetoff S, Murata Y. X-chromosome-linked inheritance of the variant thyroxine-binding globulin in Australian aborigines. The Journal of Clinical Endocrinology and Metabolism. 60: 356-60. PMID 3917459 DOI: 10.1210/Jcem-60-2-356  1
1985 Van Cauter E, Refetoff S. Evidence for two subtypes of Cushing's disease based on the analysis of episodic cortisol secretion New England Journal of Medicine. 312: 1343-1349. PMID 3873008 DOI: 10.1056/Nejm198505233122102  1
1985 Van Cauter E, Refetoff S. Multifactorial control of the 24-hour secretory profiles of pituitary hormones Journal of Endocrinological Investigation: Official Journal of the Italian Society of Endocrinology. 8: 381-391. PMID 2999212 DOI: 10.1007/Bf03348519  1
1985 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 Journal of Clinical Endocrinology and Metabolism. 60: 527-535. PMID 2982900 DOI: 10.1210/Jcem-60-3-527  1
1985 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. The Journal of Clinical Endocrinology and Metabolism. 60: 472-8. PMID 2982897 DOI: 10.1210/Jcem-60-3-472  1
1984 Van Heuverswyn B, Streydio C, Brocas H, Refetoff S, Dumont J, Vassart G. Thyrotropin controls transcription of the thyroglobulin gene. Proceedings of the National Academy of Sciences of the United States of America. 81: 5941-5. PMID 6592596 DOI: 10.1073/Pnas.81.19.5941  1
1984 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. The Journal of Clinical Endocrinology and Metabolism. 59: 269-77. PMID 6429183 DOI: 10.1210/Jcem-59-2-269  1
1984 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. 114: 280-6. PMID 6317348 DOI: 10.1210/Endo-114-1-280  1
1983 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: Clinical and Experimental. 32: 822-34. PMID 6865780 DOI: 10.1016/0026-0495(83)90114-2  1
1983 Lever EG, Refetoff S, Scherberg NH, Carr K. The influence of percutaneous fine needle aspiration on serum thyroglobulin. The Journal of Clinical Endocrinology and Metabolism. 56: 26-9. PMID 6847872 DOI: 10.1210/Jcem-56-1-26  1
1983 DeGroot LJ, Reilly M, Pinnameneni K, Refetoff S. Retrospective and prospective study of radiation-induced thyroid disease The American Journal of Medicine. 74: 852-862. PMID 6837608 DOI: 10.1016/0002-9343(83)91077-X  1
1983 Golstein J, van Cauter E, Desir D, Noël P, Spire JP, Refetoff S, Copinschi G. Effects of 'jet lag' on hormonal patterns. IV. Time shifts increase growth hormone release Journal of Clinical Endocrinology and Metabolism. 56: 433-440. PMID 6822645 DOI: 10.1210/Jcem-56-3-433  1
1983 Murata Y, Refetoff S, Horwitz AL, Smith TJ. Hormonal regulation of glycosaminoglycan accumulation in fibroblasts from patients with resistance to thyroid hormone. The Journal of Clinical Endocrinology and Metabolism. 57: 1233-9. PMID 6630416 DOI: 10.1210/Jcem-57-6-1233  1
1983 Pacini F, Sridama V, Refetoff S. Multiple complications of propylthiouracil treatment: granulocytopenia, eosinophilia, skin reaction and hepatitis with lymphocyte sensitization. Journal of Endocrinological Investigation. 5: 403-7. PMID 6221046 DOI: 10.1007/Bf03350541  1
1983 Sarne D, Barokas K, Scherberg NH, Refetoff S. Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. The Journal of Clinical Endocrinology and Metabolism. 57: 665-7. PMID 6192141 DOI: 10.1210/jcem-57-3-665  1
1983 Fang VS, Refetoff S. Heterogeneous human prolactin from a giant pituitary tumor in a patient with panhypopituitarism. The Journal of Clinical Endocrinology and Metabolism. 47: 780-7. PMID 263324 DOI: 10.1210/Jcem-47-4-780  1
1983 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. The Journal of Clinical Endocrinology and Metabolism. 47: 1266-72. PMID 233694 DOI: 10.1210/Jcem-47-6-1266  1
1983 Refetoff S. The Value of Serum Thyroglobulin Measurement in Clinical Practice Jama: the Journal of the American Medical Association. 250: 2352. DOI: 10.1001/Jama.1983.03340170078037  0.01
1982 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. The American Journal of Physiology. 241: E355-63. PMID 7304739 DOI: 10.1152/Ajpendo.1981.241.5.E355  1
1982 Scherberg NH, Vassart G, Lecocq R, Dumont JE, Refetoff S. Modulation of thyroglobulin messenger RNA accumulation in the rat thyroid. Endocrinology. 109: 1650-6. PMID 7297497 DOI: 10.1210/Endo-109-5-1650  1
1982 Desir 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 Journal of Clinical Endocrinology and Metabolism. 55: 849-857. PMID 7119086 DOI: 10.1210/Jcem-55-5-849  1
1982 Barsano CP, Skosey C, Degroot LJ, Refetoff S. Serum Thyroglobulin in the Management of Patients with Thyroid Cancer Archives of Internal Medicine. 142: 763-767. PMID 7073416 DOI: 10.1001/Archinte.1982.00340170119020  1
1982 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 Journal of Clinical Endocrinology and Metabolism. 54: 70-75. PMID 7054220 DOI: 10.1210/Jcem-54-1-70  1
1982 Smith TJ, Murata Y, Horwitz AL, Philipson L, Refetoff S. Regulation of glycosaminoglycan synthesis by thyroid hormone in vitro. The Journal of Clinical Investigation. 70: 1066-73. PMID 6813355 DOI: 10.1172/Jci110694  1
1982 Refetoff S. Syndromes of thyroid hormone resistance. The American Journal of Physiology. 243: E88-98. PMID 6287848 DOI: 10.1152/Ajpendo.1982.243.2.E88  0.01
1982 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 Endocrinologica. 99: 174-8. PMID 6277127 DOI: 10.1530/Acta.0.0990174  0.01
1981 Seo H, Wunderlich C, Vassart G, Refetoff S. Growth hormone responses to thyroid hormone in the neonatal rat: resistance and anamnestic response. The Journal of Clinical Investigation. 67: 569-74. PMID 7462429 DOI: 10.1172/Jci110068  1
1981 Brocas H, van Coevorden A, Seo H, Refetoff S, Vassart G. Dopaminergic control of prolactin mRNA accumulation in the pituitary of the male rat. Molecular and Cellular Endocrinology. 22: 25-30. PMID 7238998 DOI: 10.1016/0303-7207(81)90099-X  1
1981 Pochet R, Brocas H, Vassart G, Toubeau G, Seo H, Refetoff S, Dumont J, Pasteels JL. Radioautographic localization of prolactin messenger RNA on histological sections by in situ hybridization. Brain Research. 211: 433-438. PMID 7237132 DOI: 10.1016/0006-8993(81)90969-0  1
1981 Smith TJ, Horwitz AL, Refetoff S. The effect of thyroid hormone on glycosaminoglycan accumulation in human skin fibroblasts. Endocrinology. 108: 2397-9. PMID 7227312 DOI: 10.1210/Endo-108-6-2397  1
1981 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 Journal of Clinical Endocrinology and Metabolism. 52: 642-649. PMID 7204537 DOI: 10.1210/Jcem-52-4-642  1
1981 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. Proceedings of the National Academy of Sciences of the United States of America. 77: 4345-8. PMID 6776526 DOI: 10.1073/Pnas.77.7.4345  1
1981 Lim VS, Henriquez C, Seo H, Refetoff S, Martino E. Thyroid function in a uremic rat model. Evidence suggesting tissue hypothyroidism. The Journal of Clinical Investigation. 66: 946-54. PMID 6776147 DOI: 10.1172/Jci109963  1
1981 Désir D, van Cauter E, Golstein J, Fang VS, Leclercq R, Refetoff S, Copinschi G. Circadian and ultradian variations of ACTH and cortisol secretion. Hormone Research. 13: 302-16. PMID 6268516 DOI: 10.1159/000179297  1
1981 Desir 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 Journal of Clinical Endocrinology and Metabolism. 52: 628-641. PMID 6259189 DOI: 10.1210/Jcem-52-4-628  1
1981 Bigazzi M, Ronga R, Olivotti AL, Scarselli G, Refetoff S. Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female. Journal of Endocrinological Investigation. 3: 349-52. PMID 6162876 DOI: 10.1007/Bf03349369  1
1980 Brown ME, Refetoff S. Transient elevation of serum thyroid hormone concentration after initiation of replacement therapy in myxedema. Annals of Internal Medicine. 92: 491-5. PMID 7362153 DOI: 10.7326/0003-4819-92-4-491  0.01
1980 Refetoff S, Degroot LJ, Barsano CP. Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone. The Journal of Clinical Endocrinology and Metabolism. 51: 41-5. PMID 6769941 DOI: 10.1210/Jcem-51-1-41  1
1980 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. 105: 1481-7. PMID 499085 DOI: 10.1210/Endo-105-6-1481  1
1980 Refetoff S. Postirradiation Screening for Thyroid Nodules Jama: the Journal of the American Medical Association. 243: 1131. DOI: 10.1001/Jama.1980.03300370011007  0.01
1979 Seo H, Brocas H, Vassart G, Refetoff S. Early in vitro induction of rat pituitary GH mRNA by T31. Endocrinology. 103: 1506-9. PMID 744163 DOI: 10.1210/Endo-103-4-1506  1
1979 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. 104: 1083-90. PMID 436750 DOI: 10.1210/Endo-104-4-1083  1
1979 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. Proceedings of the National Academy of Sciences of the United States of America. 76: 824-8. PMID 284404 DOI: 10.1073/Pnas.76.2.824  1
1979 DeGroot LJ, Refetoff S, Bernal J, Rue PA, Coleoni AH. Nuclear receptors for thyroid hormone. Journal of Endocrinological Investigation. 1: 79-88. PMID 226575 DOI: 10.1007/Bf03346775  1
1979 Martino E, Seo H, Refetoff S. Loss of bioreactivity and preservation of immunoreactivity of iodothyrotropin-releasing hormone. Endocrinology. 103: 246-53. PMID 105887 DOI: 10.1210/Endo-103-1-246  1
1978 DeGroot LJ, Hoye K, Refetoff S, Van Herle AJ, Asteris GT, Rochman H. Serum albumin and antibodies in the diagnosis of thyroid cancer. The Journal of Clinical Endocrinology and Metabolism. 45: 1220-3. PMID 591616 DOI: 10.1210/jcem-45-6-1220  1
1978 Barbato AL, Bekerman C, Refetoff S. Transient iodide trapping defect in Hashimoto's thyroiditis detected by the combination of radionuclide and fluorescent scanning. The British Journal of Radiology. 50: 827-30. PMID 579322 DOI: 10.1259/0007-1285-50-599-827  1
1978 Martino E, Lernmark A, Seo H, Steiner DF, Refetoff S. High concentration of thyrotropin-releasing hormone in pancreatic islets. Proceedings of the National Academy of Sciences of the United States of America. 75: 4265-7. PMID 100783 DOI: 10.1073/Pnas.75.9.4265  1
1977 Brocas H, Seo H, Refetoff S, Vassart G. Simultaneous translation of growth hormone and prolactin messenger RNA from rat pituitary tumor cells. Febs Letters. 70: 175-9. PMID 992060 DOI: 10.1016/0014-5793(76)80752-1  1
1977 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. Clinical Endocrinology. 6: 27-39. PMID 844215 DOI: 10.1111/J.1365-2265.1977.Tb01993.X  1
1977 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. The Journal of Clinical Investigation. 60: 522-34. PMID 408377 DOI: 10.1172/Jci108804  1
1977 Yoshimura M, Hachiya T, Ochi Y, Nagasaka A, Takeda A, Hidaka H, Refetoff S, Fang VS. Suppression of Elevated Serum TSH Levels in Hypothyroidism by Fusaric Acid The Journal of Clinical Endocrinology and Metabolism. 45: 95-98. PMID 406275 DOI: 10.1210/Jcem-45-1-95  1
1977 Horwitz DL, Refetoff S. Graves' disease associated with familial deficiency of thyroxine-binding globulin. The Journal of Clinical Endocrinology and Metabolism. 44: 242-7. PMID 402376 DOI: 10.1210/Jcem-44-2-242  0.01
1977 Seo H, Refetoff S, Fang VS. Induction of hypothyroidism and hypoprolactinemia by growth hormone producing rat pituitary tumors. Endocrinology. 100: 216-26. PMID 401484 DOI: 10.1210/Endo-100-1-216  1
1977 Bernal J, Refetoff S. The action of thyroid hormone. Clinical Endocrinology. 6: 227-49. PMID 322895 DOI: 10.1111/J.1365-2265.1977.Tb03319.X  1
1977 Seo H, Vassart G, Brocas H, Refetoff S. Triiodothyronine stimulates specifically growth hormone mRNA in rat pituitary tumor cells. Proceedings of the National Academy of Sciences of the United States of America. 74: 2054-8. PMID 266726 DOI: 10.1073/Pnas.74.5.2054  1
1977 DeGroot LJ, Coleoni AH, Rue PA, Seo H, Martino E, Refetoff S. Reduced nuclear triiodothyronine receptors in starvation-induced hypothyroidism. Biochemical and Biophysical Research Communications. 79: 173-8. PMID 200237 DOI: 10.1016/0006-291X(77)90076-6  1
1977 Scherberg N, Refetoff S. Iodination-deiodination. A radiochemical method for detection of structure and changes in structure in RNA. Biochimica Et Biophysica Acta. 475: 337-51. PMID 14687 DOI: 10.1016/0005-2787(77)90024-7  1
1976 Siegler M, Refetoff S. Pretibial myxedema--a reversible cause of foot drop due to entrapment of the peroneal nerve. The New England Journal of Medicine. 294: 1383-4. PMID 1264177 DOI: 10.1056/Nejm197606172942507  0.01
1976 Scherberg NH, Refetoff S. Radioiodine labeling of ribopolymers for special applications in biology. Methods in Cell Biology. 10: 343-59. PMID 1186506 DOI: 10.1016/S0091-679X(08)60745-1  1
1976 Vassart G, Refetoff S, Brocas H, Dinsart C, Dumont JE. Translation of thyroglobulin 33S messenger RNA as a means of determining thyroglobulin quaternary structure. Proceedings of the National Academy of Sciences of the United States of America. 72: 3839-43. PMID 1060067 DOI: 10.1073/Pnas.72.10.3839  1
1976 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. Clinical Endocrinology. 5: 115-25. PMID 773572 DOI: 10.1111/J.1365-2265.1976.Tb02822.X  1
1976 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. The Journal of Clinical Investigation. 57: 485-95. PMID 56342 DOI: 10.1172/Jci108301  1
1975 Degroot LJ, Refetoff S, Strausser J, Barsano C. Nuclear triiodothyronine-binding protein: partial characterization and binding to chromatin. Proceedings of the National Academy of Sciences of the United States of America. 71: 4042-6. PMID 4530284 DOI: 10.1073/Pnas.71.10.4042  1
1975 Refetoff S. Thyroid hormone therapy. The Medical Clinics of North America. 59: 1147-62. PMID 1099361 DOI: 10.1016/S0025-7125(16)31964-2  0.01
1975 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. The Journal of Clinical Investigation. 56: 177-87. PMID 806610 DOI: 10.1172/Jci108066  1
1975 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. The New England Journal of Medicine. 292: 171-5. PMID 122783 DOI: 10.1056/Nejm197501232920402  1
1974 Scherberg NH, Refetoff S. The preparation of carrier-free iodine isotope-substituted cytosine nucleotides. Biochimica Et Biophysica Acta. 340: 446-51. PMID 4598736 DOI: 10.1016/0005-2787(74)90065-3  1
1974 Fang VS, Refetoff S, Rosenfield RL. Hypogonadism induced by a transplantable, prolactin-producing tumor in male rats: hormonal and morphological studies. Endocrinology. 95: 991-8. PMID 4413745 DOI: 10.1210/Endo-95-4-991  1
1974 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. The Journal of Clinical Endocrinology and Metabolism. 38: 450-7. PMID 4205563 DOI: 10.1210/Jcem-38-3-450  1
1974 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. The Journal of Pediatrics. 85: 240-4. PMID 4135477 DOI: 10.1016/S0022-3476(74)80404-X  1
1974 Fang VS, Refetoff S. Radioimmunoassay for Serum Triiodothyronine: Evaluation of Simple Techniques to Control Interference from Binding Proteins Clinical Chemistry. 20: 1150-1154. DOI: 10.1093/Clinchem/20.9.1150  1
1973 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. The Journal of Clinical Endocrinology and Metabolism. 37: 574-80. PMID 4742538 DOI: 10.1210/Jcem-37-4-574  1
1973 Robin NI, Selenkow HA, Fang VS, Refetoff S, Piasecki G, Rauschecker H, Jackson BT. Bidirectional thyroxine exchange in pregnant sheep. Hormones. 3: 235-49. PMID 4653182 DOI: 10.1159/000178274  1
1973 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. The Journal of Clinical Endocrinology and Metabolism. 36: 256-62. PMID 4630270 DOI: 10.1097/00006254-197307000-00016  1
1973 Scherberg NH, Refetoff S. Hybridization of RNA labelled with 125 I to high specific activity. Nature: New Biology. 242: 142-5. PMID 4512652 DOI: 10.1038/Newbio242142A0  1
1973 Niepomniszcze H, Castells S, DeGroot LJ, Refetoff S, Kim OS, Rapoport B, Hati R. Peroxidase defect in congenital goiter with complete organification block. The Journal of Clinical Endocrinology and Metabolism. 36: 347-57. PMID 4345693 DOI: 10.1210/Jcem-36-2-347  1
1973 Refetoff S, Block MB, Ehrlich EN, Friesen HG. Chiari-Frommel syndrome in a patient with primary adrenocortical insufficiency. The New England Journal of Medicine. 287: 1326-8. PMID 4344040 DOI: 10.1056/Nejm197212282872605  1
1973 RAPOPORT B, REFETOFF S, FANG VS, FRIESEN HG. SUPPRESSION OF SERUM THYROTROPIN (TSH) BY L-DOPA IN CHRONIC HYPOTHYROIDISM Obstetrical & Gynecological Survey. 28: 500. DOI: 10.1097/00006254-197307000-00016  1
1973 Hoffer PB, Bekerman C, Refetoff S, Fang VS, Lathrop KA. Radioiodinated Antibody to Carcinoembryonic Antigen (CEA) A Potentially Tumor Specific Scanning Agent Investigative Radiology. 8: 288. DOI: 10.1097/00004424-197307000-00072  1
1972 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. 91: 934-47. PMID 5065814 DOI: 10.1210/Endo-91-4-934  1
1972 Refetoff S, DeGroot LJ, Benard B, DeWind LT. Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism: Clinical and Experimental. 21: 723-56. PMID 5047916 DOI: 10.1016/0026-0495(72)90121-7  1
1972 Refetoff S, Robin NI, Alper CA. Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus. The Journal of Clinical Investigation. 51: 848-67. PMID 4111366 DOI: 10.1172/Jci106880  1
1972 Refetoff S. Thyroiditis and Thyroid Function: Clinical, Morphological, and Physiopathological Studies Jama: the Journal of the American Medical Association. 222: 586. DOI: 10.1001/Jama.1972.03210050058026  0.01
1971 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. American Journal of Obstetrics and Gynecology. 108: 1269-76. PMID 5482861 DOI: 10.1016/0002-9378(70)90103-1  1
1971 De Costre P, Buhler U, DeGroot LJ, Refetoff S. Diurnal rhythm in total serum thyroxine levels. Metabolism: Clinical and Experimental. 20: 782-91. PMID 4105484 DOI: 10.1016/S0026-0495(71)80008-2  1
1970 Refetoff S, Sönksen PH. Disappearance rate of endogenous and exogenous human growth hormone in man. The Journal of Clinical Endocrinology and Metabolism. 30: 386-92. PMID 5412545 DOI: 10.1210/Jcem-30-3-386  0.01
1970 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. 86: 793-805. PMID 4189857 DOI: 10.1210/Endo-86-4-793  1
1969 Stanbury JB, Fierro-Benitez R, Estrella E, Milutinovic PS, Tellez MU, Refetoff S. Endemic goiter with hypothyroidism in three generations. The Journal of Clinical Endocrinology and Metabolism. 29: 1596-600. PMID 5347689 DOI: 10.1210/Jcem-29-12-1596  1
1969 Alper CA, Robin NI, Refetoff S. Genetic polymorphism of rhesus thyroxine-binding prealbumin: evidence for tetrameric structure in primates. Proceedings of the National Academy of Sciences of the United States of America. 63: 775-81. PMID 4981529 DOI: 10.1073/Pnas.63.3.775  1
1969 Robin NI, Refetoff S, Fang V, Selenkow HA. Parameters of thyroid function in maternal and cord serum at term pregnancy. The Journal of Clinical Endocrinology and Metabolism. 29: 1276-80. PMID 4980117 DOI: 10.1210/Jcem-29-9-1276  1
1968 Saxena BN, Refetoff S, Emerson K, Selenkow HA. A rapid radioimmunoassay for human placental lactogen. Application to normal and pathologic pregnancies. American Journal of Obstetrics and Gynecology. 101: 874-85. PMID 4298214 DOI: 10.1016/0002-9378(68)90269-X  1
1968 Refetoff S, Selenkow HA. Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred. The New England Journal of Medicine. 278: 1081-7. PMID 4171474 DOI: 10.1056/Nejm196805162782002  1
1968 Harrison M, Fierro-Benitez R, Ramirez I, Refetoff S, Stanbury J. IMMUNOREACTIVE GROWTH HORMONE IN ENDEMIC CRETINS IN ECUADOR The Lancet. 291: 936-940. DOI: 10.1016/S0140-6736(68)90900-8  1
1968 Selenkow HA, Refetoff S. Common Tests of Thyroid Function in Serum Journal of Occupational and Environmental Medicine. 10: 375. DOI: 10.1001/Jama.1967.03130150103020  1
1967 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. The Journal of Clinical Endocrinology and Metabolism. 27: 279-94. PMID 4163616 DOI: 10.1210/Jcem-27-2-279  1
1966 Refetoff S. Iatrogenic hydrothorax. Report of a case. Annals of Internal Medicine. 63: 869-72. PMID 5848633 DOI: 10.7326/0003-4819-63-5-869  0.01
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