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Samuel Refetoff

TitleEmeritus/Emerita
InstitutionUniversity of Chicago
DepartmentMedicine-Endocrinology
AddressChicago IL 60637
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    R13DK052942     (REFETOFF, SAMUEL)Jul 1, 1997 - Jun 30, 1998
    NIH
    3RD INTERNATL WORKSHOP ON RESISTANCE TO THYROID HORMONE
    Role: Principal Investigator
    R37DK015070     (REFETOFF, SAMUEL)Jul 15, 1979 - Jun 30, 2017
    NIH
    THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERS
    Role: Principal Investigator
    R01DK015070     (REFETOFF, SAMUEL)Jul 1, 1979 - Dec 31, 2027
    NIH
    Thyroid Physiology Studies of Inherited Disorders
    Role: Principal Investigator
    R01AM015070     (REFETOFF, SAMUEL)Jul 1, 1979 - Jun 30, 1989
    NIH
    STUDIES ON REGULATION AND MECHANISM OF HORMONE ACTION
    Role: Principal Investigator
    T32DK007011     (MIRMIRA, RAGHAVENDRA G)Jul 1, 1975 - Jun 30, 2026
    NIH
    Integrated Clinical and Basic Endocrinology Research
    Role: Co-Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Weiss RE, Lemos JRN, Dumitrescu AM, Islam MS, Hirani K, Refetoff S. Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients. Thyroid. 2024 Nov; 34(11):1435-1443. PMID: 39283825; PMCID: PMC11631802.
      Citations:    Fields:    Translation:Humans
    2. Persani L, Rodien P, Moran C, Edward Visser W, Groeneweg S, Peeters R, Refetoff S, Gurnell M, Beck-Peccoz P, Chatterjee K, Visser WE. 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action. Eur Thyroid J. 2024 Aug 01; 13(4). PMID: 38963712; PMCID: PMC11301568.
      Citations: 1     Fields:    Translation:Humans
    3. Grasberger H, Dumitrescu AM, Liao XH, Swanson EG, Weiss RE, Srichomkwun P, Pappa T, Chen J, Yoshimura T, Hoffmann P, França MM, Tagett R, Onigata K, Costagliola S, Ranchalis J, Vollger MR, Stergachis AB, Chong JX, Bamshad MJ, Smits G, Vassart G, Refetoff S. STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179. Nat Genet. 2024 May; 56(5):877-888. PMID: 38714869; PMCID: PMC11472772.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    4. Salas-Lucia F, Escamilla S, Bianco AC, Dumitrescu A, Refetoff S. Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome. JCI Insight. 2024 Feb 20; 9(7). PMID: 38376950; PMCID: PMC11128209.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    5. Salas-Lucia F, Stan MN, James H, Rajwani A, Liao XH, Dumitrescu AM, Refetoff S. Effect of the Fetal THRB Genotype on the Placenta. J Clin Endocrinol Metab. 2023 09 18; 108(10):e944-e948. PMID: 37149816; PMCID: PMC10505537.
      Citations: 7     Fields:    Translation:Humans
    6. Salas-Lucia F, Liao XH, Jiang H, Dumitrescu AM, Refetoff S, Anselmo J. The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function. Thyroid. 2023 10; 33(10):1255-1258. PMID: 37597194; PMCID: PMC10611961.
      Citations:    Fields:    Translation:Humans
    7. Peng Z, Ziros PG, Martini T, Liao XH, Stoop R, Refetoff S, Albrecht U, Sykiotis GP, Kellenberger S. ASIC1a affects hypothalamic signaling and regulates the daily rhythm of body temperature in mice. Commun Biol. 2023 08 17; 6(1):857. PMID: 37591947; PMCID: PMC10435469.
      Citations:    Translation:Animals
    8. Refetoff S, Persani L, Visser WE. Increased cardiovascular morbidity and mortality in patients with resistance to thyroid hormone. Lancet Diabetes Endocrinol. 2023 09; 11(9):628-629. PMID: 37475120.
      Citations: 1     Fields:    Translation:Humans
    9. Zhang X, Young C, Liao XH, Refetoff S, Torres M, Tomer Y, Stefan-Lifshitz M, Zhang H, Larkin D, Fang D, Qi L, Arvan P. Perturbation of endoplasmic reticulum proteostasis triggers tissue injury in the thyroid gland. JCI Insight. 2023 06 22; 8(12). PMID: 37345654; PMCID: PMC10371246.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    10. Alikhani P, Alcaina Y, Salas-Lucia F, Liao XH, Bertolini A, Martin D, Moratilla A, Mora R, Mani AR, Saba A, Refetoff S, Zucchi R, González-Guerrero C, Borsò M, García-Giménez J, Buño-Soto A, Bernal J, de Miguel MP, Moreno JC. Iodotyrosines Are Biomarkers for Preclinical Stages of Iodine-Deficient Hypothyroidism in Dehal1-Knockout Mice. Thyroid. 2023 06; 33(6):752-761. PMID: 36879468; PMCID: PMC10280220.
      Citations: 3     Fields:    Translation:Animals
    11. Duan J, Matute JD, Unger LW, Hanley T, Schnell A, Lin X, Krupka N, Griebel P, Lambden C, Sit B, Grootjans J, Pyzik M, Sommer F, Kaiser S, Falk-Paulsen M, Grasberger H, Kao JY, Li H, Paik D, Lee Y, Refetoff S, Glickman JN, Paton AW, Bry L, Paton JC, Macpherson AJ, Rosenstiel P, Kuchroo VK, Waldor MK, Huh JR, Kaser A, Blumberg RS, Fuhrer T, Sauer U. Endoplasmic reticulum stress in the intestinal epithelium initiates purine metabolite synthesis and promotes Th17 cell differentiation in the gut. Immunity. 2023 05 09; 56(5):1115-1131.e9. PMID: 36917985; PMCID: PMC10175221.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    12. Shareef R, Furman A, Watanabe Y, Bruellman R, Abdullah MA, Dumitresu AM, Refetoff S, Bertolini A, Saba A, Zucchi R, Weiss RE, Borsò M. Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid. 2023 02; 33(2):261-266. PMID: 36633921; PMCID: PMC9963472.
      Citations:    Fields:    Translation:Humans
    13. Liao XH, Refetoff S, Romitti M, Tourneur A, de Faria da Fonseca B, Doumont G, Gillotay P, Eski SE, Van Simaeys G, Chomette L, Lasolle H, Monestier O, Kasprzyk DF, Detours V, Singh SP, Goldman S, Costagliola S. Transplantable human thyroid organoids generated from embryonic stem cells to rescue hypothyroidism. Nat Commun. 2022 11 17; 13(1):7057. PMID: 36396935; PMCID: PMC9672394.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    14. Lim G, Widiapradja A, Levick SP, McKelvey KJ, Liao XH, Refetoff S, Bullock M, Clifton-Bligh RJ. Foxe1 Deletion in the Adult Mouse Is Associated With Increased Thyroidal Mast Cells and Hypothyroidism. Endocrinology. 2022 10 23; 163(12). PMID: 36156081; PMCID: PMC9618408.
      Citations: 4     Fields:    Translation:AnimalsCells
    15. Reeve L, Dumitrescu AM, de Bock M, Refetoff S, França MM. A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002. PMID: 35611983; PMCID: PMC9419960.
      Citations:    Fields:    Translation:Humans
    16. Zhang X, Malik B, Young C, Zhang H, Larkin D, Liao XH, Refetoff S, Liu M, Arvan P. Maintaining the thyroid gland in mutant thyroglobulin-induced hypothyroidism requires thyroid cell proliferation that must continue in adulthood. J Biol Chem. 2022 07; 298(7):102066. PMID: 35618019; PMCID: PMC9213252.
      Citations: 2     Fields:    Translation:Animals
    17. Liao XH, Avalos P, Shelest O, Ofan R, Shilo M, Bresee C, Likhite S, Vit JP, Heuer H, Kaspar B, Meyer K, Dumitrescu AM, Refetoff S, Svendsen CN, Vatine GD. AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency. Thyroid. 2022 07; 32(7):849-859. PMID: 35350867; PMCID: PMC9469747.
      Citations: 9     Fields:    Translation:AnimalsCells
    18. Cho HR, Sugihara J, Shimizu H, Xiang YY, Bai X, Wang Y, Liao XH, Asa SL, Refetoff S, Liu M. Pathogenesis of Multinodular Goiter in Elderly XB130-Deficient Mice: Alteration of Thyroperoxidase Affinity with Iodide and Hydrogen Peroxide. Thyroid. 2022 04; 32(4):385-396. PMID: 34915750; PMCID: PMC9048175.
      Citations: 2     Fields:    Translation:HumansAnimals
    19. Sugihara J, Wong A, Shimizu H, Zhao J, Cho HR, Wang Y, Refetoff S, Arvan P, Liu M. Thyroidal Transcriptomic Profiles of Pathoadaptive Responses to Congenital Hypothyroidism in XB130 Knockout Mice. Cells. 2022 03 12; 11(6). PMID: 35326426; PMCID: PMC8947158.
      Citations: 3     Fields:    Translation:AnimalsCells
    20. Salas-Lucia F, Amrhein JA, Weir JE, Dumitrescu AM, Refetoff S, França MM. Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid. 2022 03; 32(3):336-339. PMID: 34969265; PMCID: PMC8971974.
      Citations: 5     Fields:    Translation:Humans
    21. Chan SL, Refetoff S, Babic N, Jin M, Garg U, Yeo KJ. Triiodothyroacetic Acid Cross-Reacts With Measurement of Triiodothyronine (T3) on Various Immunoassay Platforms. Am J Clin Pathol. 2022 02 03; 157(2):156-158. PMID: 34542585; PMCID: PMC8824589.
      Citations: 3     Fields:    Translation:Humans
    22. Shaki D, Eskin-Schwartz M, Hadar N, Bosin E, Carmon L, Refetoff S, Hershkovitz E, Birk OS, Haim A. TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. Eur Thyroid J. 2022 01 07; 11(1). PMID: 34981755; PMCID: PMC9142811.
      Citations: 1     Fields:    
    23. Wang Y, Xiang YY, Sugihara J, Lu WY, Liao XH, Arvan P, Refetoff S, Liu M. XB130 Plays an Essential Role in Folliculogenesis Through Mediating Interactions Between Microfilament and Microtubule Systems in Thyrocytes. Thyroid. 2022 02; 32(2):128-137. PMID: 34652970; PMCID: PMC8861928.
      Citations: 5     Fields:    Translation:Animals
    24. Wang Y, Shimizu H, Xiang YY, Sugihara J, Lu WY, Liao XH, Cho HR, Toba H, Bai XH, Asa SL, Arvan P, Refetoff S, Liu M. XB130 Deficiency Causes Congenital Hypothyroidism in Mice due to Disorganized Apical Membrane Structure and Function of Thyrocytes. Thyroid. 2021 11; 31(11):1650-1661. PMID: 34470464; PMCID: PMC8917886.
      Citations: 4     Fields:    Translation:AnimalsCells
    25. Furman A, Hannoush Z, Echegoyen FB, Dumitrescu A, Refetoff S, Weiss RE. Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism. Thyroid. 2021 10; 31(10):1589-1591. PMID: 34128397; PMCID: PMC8917882.
      Citations: 3     Fields:    Translation:Humans
    26. Iwayama H, Kakita H, Iwasa M, Adachi S, Takano K, Kikuchi M, Fujisawa Y, Osaka H, Yamada Y, Okumura A, Hirani K, Weiss RE, Refetoff S. Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency. Thyroid. 2021 09; 31(9):1316-1321. PMID: 34049438; PMCID: PMC8558056.
      Citations: 12     Fields:    Translation:HumansPHPublic Health
    27. Pappa T, Refetoff S. Resistance to Thyroid Hormone Beta: A Focused Review. Front Endocrinol (Lausanne). 2021; 12:656551. PMID: 33868182; PMCID: PMC8044682.
      Citations: 40     Fields:    Translation:Humans
    28. Bruinstroop E, Refetoff S, Yen PM, Chaves C, Anselmo J. Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid. 2021 07; 31(7):1127-1134. PMID: 33353459; PMCID: PMC8290309.
      Citations: 13     Fields:    Translation:Humans
    29. Saqcena M, Leandro-Garcia LJ, Maag JLV, Tchekmedyian V, Krishnamoorthy GP, Tamarapu PP, Tiedje V, Reuter V, Knauf JA, de Stanchina E, Xu B, Liao XH, Refetoff S, Ghossein R, Chi P, Ho AL, Koche RP, Fagin JA. SWI/SNF Complex Mutations Promote Thyroid Tumor Progression and Insensitivity to Redifferentiation Therapies. Cancer Discov. 2021 05; 11(5):1158-1175. PMID: 33318036; PMCID: PMC8102308.
      Citations: 53     Fields:    Translation:AnimalsCells
    30. Furman AE, Dumitrescu AM, Refetoff S, Weiss RE. Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation. Thyroid. 2021 06; 31(6):1003-1005. PMID: 33198587; PMCID: PMC8215396.
      Citations: 4     Fields:    Translation:Humans
    31. German A, Fernandes GW, Liao XH, Bianco AC, Refetoff S, Dumitrescu AM, França MM. Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207. PMID: 32718224; PMCID: PMC7891200.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    32. Refetoff S, Pappa T, Williams MK, Matheus MG, Liao XH, Hansen K, Nicol L, Pierce M, Blasco PA, Wiebers Jensen M, Bernal J, Weiss RE, Dumitrescu AM, LaFranchi S. Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation. Thyroid. 2021 05; 31(5):713-720. PMID: 32746752; PMCID: PMC8110025.
      Citations: 14     Fields:    Translation:Humans
    33. Ziros PG, Chartoumpekis DV, Bongiovanni M, Habeos IG, Liao XH, Refetoff S, Kopp PA, Brix K, Sykiotis GP, Renaud CO. Mice Hypomorphic for Keap1, a Negative Regulator of the Nrf2 Antioxidant Response, Show Age-Dependent Diffuse Goiter with Elevated Thyrotropin Levels. Thyroid. 2021 01; 31(1):23-35. PMID: 32689903; PMCID: PMC7840308.
      Citations: 11     Fields:    Translation:AnimalsCells
    34. Refetoff S, Frey WH, Grijota-Martínez C, Bárez-López S, Ausó E, Guadaño-Ferraz A. Intranasal delivery of Thyroid hormones in MCT8 deficiency. PLoS One. 2020; 15(7):e0236113. PMID: 32687511; PMCID: PMC7371167.
      Citations: 4     Fields:    Translation:AnimalsCells
    35. Bruellman RJ, Watanabe Y, Ebrhim RS, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2020 05 01; 105(5). PMID: 31867598; PMCID: PMC7093074.
      Citations: 5     Fields:    Translation:Humans
    36. Refetoff S. Re: "Goiter in Residents of Salta, Argentina: An Artistic Rendition" by Jonklaas et al. (Thyroid 2020:30;34-36. DOI: 10.1089/thy.2019.0639). Thyroid. 2020 05; 30(5):783-784. PMID: 32131708; PMCID: PMC7232650.
      Citations:    Fields:    Translation:Humans
    37. Levine RL, Pappa T, Ilaka-Chibuluzo S, Rothberger GD, Dumitrescu AM, Refetoff S, França MM. Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland. Thyroid. 2020 04; 30(4):640-642. PMID: 31910104; PMCID: PMC7187975.
      Citations: 1     Fields:    Translation:Humans
    38. Bruellman R, Watanabe Y, Shareef R, Abdullah MA, Dumitrescu A, Strauss BS, Refetoff S, Weiss RE. Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism. Thyroid. 2020 05; 30(5):780-782. PMID: 31868128; PMCID: PMC7232585.
      Citations: 1     Fields:    Translation:HumansCells
    39. Fu J, Korwutthikulrangsri M, Ramos-Platt L, Pierson TM, Liao XH, Refetoff S, Weiss RE, Dumitrescu AM. Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants. Thyroid. 2020 03; 30(3):463-465. PMID: 31856685; PMCID: PMC7074892.
      Citations: 4     Fields:    Translation:Humans
    40. Ebrhim RS, Bruellman RJ, Watanabe Y, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß. Horm Res Paediatr. 2019; 92(6):390-394. PMID: 31914441; PMCID: PMC7308213.
      Citations: 1     Fields:    Translation:HumansCells
    41. Refetoff S, Scherberg NH, Yuan C, Wu W, Wu Z, McPhaul MJ. Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement. Thyroid. 2020 01; 30(1):37-41. PMID: 31822224; PMCID: PMC6983746.
      Citations: 6     Fields:    Translation:Humans
    42. Liao XH, Refetoff S, Bárez-López S, Grijota-Martínez C, Guadaño-Ferraz A. Intracerebroventricular administration of the thyroid hormone analog TRIAC increases its brain content in the absence of MCT8. PLoS One. 2019; 14(12):e0226017. PMID: 31809508; PMCID: PMC6897405.
      Citations: 7     Fields:    Translation:Animals
    43. Liao XH, Refetoff S, Vanhaesebroeck B, Grieco G, Wang T, Delcorte O, Spourquet C, Janssens V, Strickaert A, Gaide Chevronnay HP, Bilanges B, Maenhaut C, Courtoy PJ, Pierreux CE. Class III PI3K Vps34 Controls Thyroid Hormone Production by Regulating Thyroglobulin Iodination, Lysosomal Proteolysis, and Tissue Homeostasis. Thyroid. 2020 01; 30(1):133-146. PMID: 31650902; PMCID: PMC6983755.
      Citations: 3     Fields:    
    44. Korwutthikulrangsri M, Dosiou C, Dumitrescu AM, Refetoff S. A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance. Eur Thyroid J. 2019 Dec; 8(6):293-297. PMID: 31934554; PMCID: PMC6944928.
      Citations: 4     Fields:    
    45. Kohler H, Latteyer S, Theurer S, Liao XH, Christoph S, Zwanziger D, Kero J, Undeutsch H, Refetoff S, Schmid KW, Moeller LC, Hönes GS, Schulte JH, Führer D. Increased Anaplastic Lymphoma Kinase Activity Induces a Poorly Differentiated Thyroid Carcinoma in Mice. Thyroid. 2019 10; 29(10):1438-1446. PMID: 31526103; PMCID: PMC8935483.
      Citations: 5     Fields:    Translation:Animals
    46. Fujisawa H, Dumitrescu AM, Refetoff S, Gagné J. Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid. 2019 10; 29(10):1518-1520. PMID: 31432759; PMCID: PMC6797074.
      Citations: 4     Fields:    Translation:HumansCells
    47. Refetoff S, Van Cauter E, Yoshimura T, Ikegami K. Interconnection between circadian clocks and thyroid function. Nat Rev Endocrinol. 2019 10; 15(10):590-600. PMID: 31406343; PMCID: PMC7288350.
      Citations: 89     Fields:    Translation:HumansAnimals
    48. Zhou J, Waskowicz LR, Lim A, Liao XH, Lian B, Masamune H, Refetoff S, Tran B, Koeberl DD, Yen PM. A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia. Thyroid. 2019 08; 29(8):1158-1167. PMID: 31337282; PMCID: PMC6707038.
      Citations: 27     Fields:    Translation:AnimalsCells
    49. Mimoto MS, Refetoff S. Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations. J Endocrinol Invest. 2020 Jan; 43(1):31-41. PMID: 31352644; PMCID: PMC6954308.
      Citations: 6     Fields:    Translation:Humans
    50. Scherberg NH, Dumitrescu AM, Refetoff S, Anselmo J. Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line. Thyroid. 2019 06; 29(6):778-782. PMID: 30938226; PMCID: PMC6588120.
      Citations: 16     Fields:    Translation:Humans
    51. Watanabe Y, Bruellman RJ, Ebrhim RS, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304. PMID: 30375286; PMCID: PMC6389765.
      Citations: 6     Fields:    Translation:Humans
    52. Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Patyra K, Williams ED, UK10K Consortium, Soleimani M, Barrett T, Maher ER, Chatterjee VK, Refetoff S, Schoenmakers N, Jääskeläinen J, Löf C. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight. 2018 10 18; 3(20). PMID: 30333321; PMCID: PMC6237461.
      Citations: 25     Fields:    
    53. Ziros PG, Habeos IG, Chartoumpekis DV, Ntalampyra E, Somm E, Bongiovanni M, Trougakos IP, Yamamoto M, Kensler TW, Carrasco N, Ris-Stalpers C, Liao XH, Rossich L, Thomasz L, Juvenal GJ, Refetoff S, Sykiotis GP, Renaud CO, Santisteban P, Amendola E. NFE2-Related Transcription Factor 2 Coordinates Antioxidant Defense with Thyroglobulin Production and Iodination in the Thyroid Gland. Thyroid. 2018 06; 28(6):780-798. PMID: 29742982; PMCID: PMC5994681.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    54. Mimoto MS, Karaca A, Scherberg N, Dumitrescu AM, Refetoff S. Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid. 2018 06; 28(6):811-814. PMID: 29676214; PMCID: PMC5994679.
      Citations:    Fields:    Translation:Humans
    55. Watanabe Y, Sharwood E, Goodwin B, Creech MK, Hassan HY, Netea MG, Jaeger M, Dumitrescu A, Refetoff S, Huynh T, Weiss RE. A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. BMC Med Genet. 2018 05 02; 19(1):69. PMID: 29720101; PMCID: PMC5932782.
      Citations: 8     Fields:    Translation:HumansCells
    56. Williams GR, Boelen A, Refetoff S. 13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action. Thyroid. 2018 06; 28(6):690-691. PMID: 29580183.
      Citations:    Fields:    Translation:Humans
    57. Pappa T, Refetoff S. Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHß). Methods Mol Biol. 2018; 1801:225-240. PMID: 29892828.
      Citations: 17     Fields:    Translation:HumansCells
    58. Rakov H, Logan J, Liao XH, Werbenko E, Pollard AS, Gassen J, Engels K, Strucksberg KH, Kleinbongard P, Zwanziger D, Klein-Hitpass L, Armstrong DL, Bassett JHD, Williams GR, Refetoff S, Moeller LC, Hönes GS, Præstholm SM, Siersbæk MS, Rijntjes E, Latteyer S, Rozman J, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Köhrle J, Grøntved L, Führer D. Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo. Proc Natl Acad Sci U S A. 2017 12 26; 114(52):E11323-E11332. PMID: 29229863; PMCID: PMC5748168.
      Citations: 55     Fields:    
    59. Kang HS, Kumar D, Liao G, Lichti-Kaiser K, Gerrish K, Liao XH, Refetoff S, Jothi R, Jetten AM. GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation. J Clin Invest. 2017 12 01; 127(12):4326-4337. PMID: 29083325; PMCID: PMC5707155.
      Citations: 21     Fields:    
    60. Pappa T, Mamanasiri S, Dumitrescu AM, Weiss RE, Refetoff S, Anselmo J. Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017 10 01; 102(10):3775-3782. PMID: 28938413; PMCID: PMC5630247.
      Citations: 10     Fields:    Translation:Humans
    61. Hermanns P, Kumorowicz-Czoch M, Grasberger H, Refetoff S, Pohlenz J. Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome. Exp Clin Endocrinol Diabetes. 2018 02; 126(2):85-90. PMID: 28954305.
      Citations: 5     Fields:    Translation:Humans
    62. Srichomkwun P, Liao XH, Moeller LC, Alonso-Sampedro M, Weiss RE, Dumitrescu AM, Refetoff S, Anselmo J, Hönes GS. Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice. J Clin Endocrinol Metab. 2017 09 01; 102(9):3234-3240. PMID: 28586435; PMCID: PMC5587072.
      Citations: 19     Fields:    Translation:HumansAnimals
    63. Leitch VD, Di Cosmo C, Liao XH, O'Boy S, Galliford TM, Evans H, Croucher PI, Boyde A, Dumitrescu A, Weiss RE, Refetoff S, Williams GR, Bassett JHD. An Essential Physiological Role for MCT8 in Bone in Male Mice. Endocrinology. 2017 09 01; 158(9):3055-3066. PMID: 28637283; PMCID: PMC5659673.
      Citations: 4     Fields:    
    64. Cheng SY, Hollenberg AN, Moeller LC, Wondisford FE, Yen PM, Refetoff S, Flamant F, Samarut J. Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature. Endocrinology. 2017 07 01; 158(7):2052-2057. PMID: 28472304; PMCID: PMC6283428.
      Citations: 63     Fields:    Translation:HumansAnimalsCells
    65. Bellelli R, Vitagliano D, Federico G, Marotta P, Tamburrino A, Salerno P, Paciello O, Papparella S, Knauf JA, Fagin JA, Refetoff S, Santoro M, Troncone G. Oncogene-induced senescence and its evasion in a mouse model of thyroid neoplasia. Mol Cell Endocrinol. 2018 01 15; 460:24-35. PMID: 28652169; PMCID: PMC5741508.
      Citations: 8     Fields:    Translation:AnimalsCells
    66. Ohba K, Sinha RA, Singh BK, Iannucci LF, Zhou J, Kovalik JP, Liao XH, Refetoff S, Sng JCG, Leow MK, Yen PM. Changes in Hepatic TRß Protein Expression, Lipogenic Gene Expression, and Long-Chain Acylcarnitine Levels During Chronic Hyperthyroidism and Triiodothyronine Withdrawal in a Mouse Model. Thyroid. 2017 06; 27(6):852-860. PMID: 28457184; PMCID: PMC5467114.
      Citations: 6     Fields:    Translation:AnimalsCells
    67. Vatine GD, Al-Ahmad A, Barriga BK, Svendsen S, Salim A, Garcia L, Garcia VJ, Ho R, Yucer N, Qian T, Lim RG, Wu J, Thompson LM, Spivia WR, Chen Z, Van Eyk J, Palecek SP, Refetoff S, Shusta EV, Svendsen CN. Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier. Cell Stem Cell. 2017 06 01; 20(6):831-843.e5. PMID: 28526555; PMCID: PMC6659720.
      Citations: 116     Fields:    Translation:HumansCells
    68. Turgeon MO, Silander TL, Liao XH, Rigden M, Ongaro L, Zhou X, Joustra SD, Wit JM, Wade MG, Refetoff S, Bernard DJ, Doycheva D, Heuer H. TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice. Endocrinology. 2017 04 01; 158(4):815-830. PMID: 28324000; PMCID: PMC5460797.
      Citations: 15     Fields:    Translation:AnimalsCells
    69. Grasberger H, Refetoff S. Resistance to thyrotropin. Best Pract Res Clin Endocrinol Metab. 2017 03; 31(2):183-194. PMID: 28648507; PMCID: PMC5569899.
      Citations: 12     Fields:    Translation:Humans
    70. Pappa T, Moeller LC, Edidin DV, Pannain S, Refetoff S. A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families. Eur Thyroid J. 2017 Jul; 6(3):138-142. PMID: 28785540; PMCID: PMC5527229.
      Citations: 5     Fields:    
    71. Srichomkwun P, Scherberg NH, Refetoff S, Jakšic J. Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies. AACE Clin Case Rep. 2017; 3(1):e22-e25. PMID: 28078322; PMCID: PMC5222615.
      Citations: 4     
    72. Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S. DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. Thyroid. 2017 01; 27(1):129-131. PMID: 27821020; PMCID: PMC5206697.
      Citations: 9     Fields:    Translation:Humans
    73. Sriphrapradang C, Srichomkwun P, Refetoff S, Mamanasiri S. A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma. Thyroid. 2016 12; 26(12):1804-1806. PMID: 27758132; PMCID: PMC5175442.
      Citations: 10     Fields:    Translation:Humans
    74. Refetoff S, Liao XH, Eskalli Z, Achouri Y, Hahn S, Many MC, Craps J, Dumont JE, Van Sande J, Corvilain B, Miot F, De Deken X. Overexpression of Interleukin-4 in the Thyroid of Transgenic Mice Upregulates the Expression of Duox1 and the Anion Transporter Pendrin. Thyroid. 2016 10; 26(10):1499-1512. PMID: 27599561; PMCID: PMC5067804.
      Citations: 11     Fields:    Translation:AnimalsCells
    75. Neamtu C, Tupea C, Paun D, Hoisescu A, Ghemigian A, Refetoff S, Sriphrapradang C. A new TRß mutation in resistance to thyroid hormone syndrome. Hormones (Athens). 2016 Oct; 15(4):534-539. PMID: 28222413.
      Citations: 6     Fields:    Translation:Humans
    76. Iwayama H, Liao XH, Braun L, Kaspar B, Weiss RE, Dumitrescu AM, Refetoff S, Bárez-López S, Guadaño-Ferraz A. Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice. Thyroid. 2016 09; 26(9):1311-9. PMID: 27432638; PMCID: PMC5036314.
      Citations: 20     Fields:    Translation:AnimalsCells
    77. Srichomkwun P, Admoni O, Refetoff S, de Vries L. A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. Horm Res Paediatr. 2016; 86(2):137-142. PMID: 27207603; PMCID: PMC5061635.
      Citations: 7     Fields:    Translation:Humans
    78. Umans L, de Sousa Lopes SC, Sasaki T, Refetoff S, Zwijsen A, Villacorte M, Delmarcelle AS, Lernoux M, Bouquet M, Lemoine P, Bolsée J, Van Der Smissen P, Bommer G, Henriet P, Lemaigre FP, Courtoy PJ, Pierreux CE. Thyroid follicle development requires Smad1/5- and endothelial cell-dependent basement membrane assembly. Development. 2016 06 01; 143(11):1958-70. PMID: 27068110; PMCID: PMC4920163.
      Citations: 23     Fields:    Translation:AnimalsCells
    79. Amano I, Takatsuru Y, Toya S, Haijima A, Iwasaki T, Grasberger H, Refetoff S, Koibuchi N. Aberrant Cerebellar Development in Mice Lacking Dual Oxidase Maturation Factors. Thyroid. 2016 05; 26(5):741-52. PMID: 26914863; PMCID: PMC4860669.
      Citations: 11     Fields:    Translation:AnimalsCells
    80. Ohba K, Leow MK, Singh BK, Sinha RA, Lesmana R, Liao XH, Ghosh S, Refetoff S, Sng JC, Yen PM. Desensitization and Incomplete Recovery of Hepatic Target Genes After Chronic Thyroid Hormone Treatment and Withdrawal in Male Adult Mice. Endocrinology. 2016 Apr; 157(4):1660-72. PMID: 26866609; PMCID: PMC4816733.
      Citations: 15     Fields:    Translation:AnimalsCells
    81. Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Rocca CJ, Liao XH, Refetoff S, Pierreux CE, Cherqui S, Courtoy PJ. Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. Endocrinology. 2016 Apr; 157(4):1363-71. PMID: 26812160; PMCID: PMC4816724.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    82. Leung EK, Yi X, Refetoff S, Yeo KT. Diiodothyropropionic acid (DITPA) cross-reacts with thyroid function assays on different immunoassay platforms. Clin Chim Acta. 2016 Jan 30; 453:203-4. PMID: 26683355; PMCID: PMC5819893.
      Citations: 1     Fields:    
    83. Pappa T, Ferrara AM, Refetoff S. Inherited defects of thyroxine-binding proteins. Best Pract Res Clin Endocrinol Metab. 2015 Oct; 29(5):735-47. PMID: 26522458; PMCID: PMC4632647.
      Citations: 39     Fields:    Translation:Humans
    84. Ferrara AM, Liao XH, Ye H, Weiss RE, Dumitrescu AM, Refetoff S. The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency. Endocrinology. 2015 Nov; 156(11):3889-94. PMID: 26322373; PMCID: PMC4606752.
      Citations: 14     Fields:    Translation:HumansAnimals
    85. Pappa T, Johannesen J, Scherberg N, Torrent M, Dumitrescu A, Refetoff S. A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid. 2015 Aug; 25(8):869-76. PMID: 25950606; PMCID: PMC4533086.
      Citations: 10     Fields:    Translation:HumansCells
    86. Janssens V, Van Der Smissen P, Liao XH, Abid Y, Nevo N, Antignac C, Refetoff S, Cherqui S, Pierreux CE, Courtoy PJ, Gaide Chevronnay HP. A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing. Endocrinology. 2015 Jun; 156(6):2349-64. PMID: 25811319; PMCID: PMC4430621.
      Citations: 22     Fields:    Translation:AnimalsCells
    87. Tenenbaum-Rakover Y, Almashanu S, Hess O, Admoni O, Hag-Dahood Mahameed A, Schwartz N, Allon-Shalev S, Bercovich D, Refetoff S. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid. 2015 Mar; 25(3):292-9. PMID: 25557138; PMCID: PMC4361004.
      Citations: 18     Fields:    Translation:HumansPHPublic Health
    88. Choudhary A, Sriphrapradang C, Refetoff S, Antal Z. Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading. J Pediatr Endocrinol Metab. 2015 Jan; 28(1-2):241-5. PMID: 25153218; PMCID: PMC5796804.
      Citations: 5     Fields:    Translation:Humans
    89. Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff S. A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81. PMID: 25361180; PMCID: PMC4283011.
      Citations: 7     Fields:    Translation:HumansCells
    90. Morales-Bastos C, Liao XH, Lev D, Sugo E, Verge CF, Refetoff S, Bernal J, López-Espíndola D, Grijota-Martínez C, Guadaño-Ferraz A. Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination. J Clin Endocrinol Metab. 2014 Dec; 99(12):E2799-804. PMID: 25222753; PMCID: PMC4255116.
      Citations: 58     Fields:    Translation:HumansCells
    91. Karaviti LP, Seghers V, Weiss RE, Refetoff S, Dumitrescu AM, Larsen CC. A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. Int J Pediatr Endocrinol. 2014; 2014(1):23. PMID: 25873976; PMCID: PMC4396564.
      Citations: 3     
    92. Ikegami K, Liao XH, Hoshino Y, Ono H, Ota W, Ito Y, Nishiwaki-Ohkawa T, Sato C, Kitajima K, Iigo M, Shigeyoshi Y, Yamada M, Murata Y, Refetoff S, Yoshimura T. Tissue-specific posttranslational modification allows functional targeting of thyrotropin. Cell Rep. 2014 Nov 06; 9(3):801-10. PMID: 25437536; PMCID: PMC4251493.
      Citations: 39     Fields:    Translation:AnimalsCells
    93. Liao XH, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S, Ferrara AM, Gil-Ibáñez P. Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice. Endocrinology. 2014 Oct; 155(10):4088-93. PMID: 25051435; PMCID: PMC4164925.
      Citations: 13     Fields:    Translation:Animals
    94. Champa D, Russo MA, Liao XH, Refetoff S, Ghossein RA, Di Cristofano A. Obatoclax overcomes resistance to cell death in aggressive thyroid carcinomas by countering Bcl2a1 and Mcl1 overexpression. Endocr Relat Cancer. 2014 Oct; 21(5):755-67. PMID: 25012986; PMCID: PMC4152557.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    95. Greenberg SM, Ferrara AM, Nicholas ES, Dumitrescu AM, Cody V, Weiss RE, Refetoff S. A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. Thyroid. 2014 Jun; 24(6):945-50. PMID: 24494774; PMCID: PMC4046191.
      Citations: 12     Fields:    Translation:Humans
    96. Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid. 2014 Mar; 24(3):407-9. PMID: 24588711; PMCID: PMC3950730.
      Citations: 15     Fields:    
    97. Refetoff S, Bassett JH, Beck-Peccoz P, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Weiss RE, Williams GR, Yen PM, Bernal J, Samarut J. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Eur Thyroid J. 2014 Mar; 3(1):7-9. PMID: 24847459; PMCID: PMC4005262.
      Citations: 11     Fields:    
    98. Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM, Refetoff S. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. J Clin Endocrinol Metab. 2014 Mar; 99(3):768-70. PMID: 24823702; PMCID: PMC3942236.
      Citations: 21     Fields:    
    99. Bianco AC, Anderson G, Forrest D, Galton VA, Kim BW, Kopp PA, Liao XH, Obregon MJ, Peeters RP, Refetoff S, Sharlin DS, Simonides WS, Weiss RE, Williams GR, American Thyroid Association Task Force on Approaches and Strategies to Investigate Thyroid Hormone , Gereben B. American Thyroid Association Guide to investigating thyroid hormone economy and action in rodent and cell models. Thyroid. 2014 Jan; 24(1):88-168. PMID: 24001133; PMCID: PMC3887458.
      Citations: 91     Fields:    
    100. Fu J, Refetoff S, Dumitrescu AM. Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings. Curr Opin Endocrinol Diabetes Obes. 2013 Oct; 20(5):434-40. PMID: 23974772; PMCID: PMC4061907.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    101. Rodrigues TB, Ceballos A, Refetoff S, Morte B, Bernal J, Grijota-Martínez C, Nuñez B, Cerdán S. Increased oxidative metabolism and neurotransmitter cycling in the brain of mice lacking the thyroid hormone transporter SLC16A2 (MCT8). PLoS One. 2013; 8(10):e74621. PMID: 24098341; PMCID: PMC3788064.
      Citations: 7     Fields:    Translation:AnimalsCells
    102. Dumitrescu A, Vazquez-Mellado A, Vinogradova M, Fletterick R, Refetoff S, Weiss RE, Larsen CC, Guerra-Argüero LM, Gállego-Suárez C. Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease. Thyroid. 2013 Dec; 23(12):1638-43. PMID: 23806029; PMCID: PMC3868256.
      Citations: 7     Fields:    Translation:Humans
    103. Di Cosmo C, Liao XH, Ye H, Ferrara AM, Weiss RE, Refetoff S, Dumitrescu AM. Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels. Endocrinology. 2013 Dec; 154(12):4885-95. PMID: 24029243; PMCID: PMC3836073.
      Citations: 23     Fields:    Translation:AnimalsCells
    104. Ferrara AM, Liao XH, Marcinkowski T, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S, Gil-Ibáñez P. Changes in thyroid status during perinatal development of MCT8-deficient male mice. Endocrinology. 2013 Jul; 154(7):2533-41. PMID: 23696569; PMCID: PMC3689279.
      Citations: 40     Fields:    Translation:Animals
    105. Ferrara AM, Cakir M, Henry PH, Refetoff S. Coexistence of THRB and TBG gene mutations in a Turkish family. J Clin Endocrinol Metab. 2013 Jun; 98(6):E1148-51. PMID: 23633200; PMCID: PMC3667268.
      Citations: 4     Fields:    Translation:Humans
    106. Sriphrapradang C, Erdogan MF, Emral R, Refetoff S, Ünlütürk U, Güldiken S, Güllü S. Management of differentiated thyroid cancer in the presence of resistance to thyroid hormone and TSH-secreting adenomas: a report of four cases and review of the literature. J Clin Endocrinol Metab. 2013 Jun; 98(6):2210-7. PMID: 23553855; PMCID: PMC3667261.
      Citations: 16     Fields:    Translation:Humans
    107. Hermanns P, Grasberger H, Cohen R, Freiberg C, Refetoff S, Pohlenz J, Dörr HG. Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms. Thyroid. 2013 Jul; 23(7):791-6. PMID: 23308388; PMCID: PMC3704082.
      Citations: 12     Fields:    Translation:Humans
    108. Hermanns P, Refetoff S, Sriphrapradang C, Pohlenz J, Okamato J, Slyper L, Slyper AH. A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies. J Pediatr Endocrinol Metab. 2013; 26(1-2):119-23. PMID: 23457313; PMCID: PMC4061902.
      Citations: 5     Fields:    Translation:HumansCells
    109. Kasprzyk DF, Opitz R, Iacovino M, Liao XH, Dumitrescu AM, Refetoff S, Peremans K, Manto M, Kyba M, Costagliola S, Antonica F. Generation of functional thyroid from embryonic stem cells. Nature. 2012 Nov 01; 491(7422):66-71. PMID: 23051751; PMCID: PMC3687105.
      Citations: 142     Fields:    Translation:HumansAnimalsCells
    110. Chung S, Liao XH, Di Cosmo C, Van Sande J, Wang Z, Refetoff S, Civelli O. Disruption of the melanin-concentrating hormone receptor 1 (MCH1R) affects thyroid function. Endocrinology. 2012 Dec; 153(12):6145-54. PMID: 23024261; PMCID: PMC3512057.
      Citations: 3     Fields:    Translation:Animals
    111. Verge CF, Konrad D, Cohen M, Di Cosmo C, Dumitrescu AM, Marcinkowski T, Hameed S, Hamilton J, Weiss RE, Refetoff S. Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab. 2012 Dec; 97(12):4515-23. PMID: 22993035; PMCID: PMC3513545.
      Citations: 52     Fields:    Translation:Humans
    112. Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013 Jul; 1830(7):3987-4003. PMID: 22986150; PMCID: PMC3528849.
      Citations: 79     Fields:    Translation:Humans
    113. Bernal J, Refetoff S, Sachs L, Plateroti M. Thyroid hormones and their receptors: from development to disease. J Thyroid Res. 2011; 2011:284737. PMID: 22570805; PMCID: PMC3337623.
      Citations:    
    114. Ozaki T, Matsubara T, Seo D, Okamoto M, Nagashima K, Sasaki Y, Hayase S, Murata T, Liao XH, Hanson J, Rodriguez-Canales J, Thorgeirsson SS, Kakudo K, Refetoff S, Kimura S. Thyroid regeneration: characterization of clear cells after partial thyroidectomy. Endocrinology. 2012 May; 153(5):2514-25. PMID: 22454152; PMCID: PMC3339649.
      Citations: 17     Fields:    
    115. Ferrara AM, Onigata K, Ercan O, Woodhead H, Weiss RE, Refetoff S. Homozygous thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. J Clin Endocrinol Metab. 2012 Apr; 97(4):1328-36. PMID: 22319036; PMCID: PMC3319181.
      Citations: 40     Fields:    Translation:Humans
    116. Sriphrapradang C, German A, Dumitrescu AM, Refetoff S. Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. Thyroid. 2012 Mar; 22(3):252-7. PMID: 22313426; PMCID: PMC3286805.
      Citations: 1     Fields:    Translation:Humans
    117. Grasberger H, De Deken X, Mayo OB, Raad H, Weiss M, Liao XH, Refetoff S. Mice deficient in dual oxidase maturation factors are severely hypothyroid. Mol Endocrinol. 2012 Mar; 26(3):481-92. PMID: 22301785; PMCID: PMC3286189.
      Citations: 38     Fields:    Translation:Animals
    118. Ciric I, Zhao JC, Du H, Findling JW, Molitch ME, Weiss RE, Refetoff S, Kerr WD, Meyer J. Transsphenoidal surgery for Cushing disease: experience with 136 patients. Neurosurgery. 2012 Jan; 70(1):70-80; discussion 80-1. PMID: 21772221; PMCID: PMC4051420.
      Citations: 32     Fields:    Translation:Humans
    119. Antico Arciuch VG, Russo MA, Dima M, Kang KS, Dasrath F, Liao XH, Refetoff S, Montagna C, Di Cristofano A. Thyrocyte-specific inactivation of p53 and Pten results in anaplastic thyroid carcinomas faithfully recapitulating human tumors. Oncotarget. 2011 Dec; 2(12):1109-26. PMID: 22190384; PMCID: PMC3282070.
      Citations: 47     Fields:    Translation:HumansAnimalsCells
    120. Chakravarty D, Santos E, Ryder M, Knauf JA, Liao XH, West BL, Bollag G, Kolesnick R, Thin TH, Rosen N, Zanzonico P, Larson SM, Refetoff S, Ghossein R, Fagin JA. Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activation. J Clin Invest. 2011 Dec; 121(12):4700-11. PMID: 22105174; PMCID: PMC3225989.
      Citations: 181     Fields:    Translation:HumansAnimalsCells
    121. Barca-Mayo O, Liao XH, DiCosmo C, Dumitrescu A, Moreno-Vinasco L, Wade MS, Sammani S, Mirzapoiazova T, Garcia JG, Refetoff S, Weiss RE. Role of type 2 deiodinase in response to acute lung injury (ALI) in mice. Proc Natl Acad Sci U S A. 2011 Dec 06; 108(49):E1321-9. PMID: 22065740; PMCID: PMC3241808.
      Citations: 22     Fields:    Translation:AnimalsCells
    122. Grasberger H, Refetoff S. Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr. 2011 Aug; 23(4):421-8. PMID: 21543982; PMCID: PMC3263319.
      Citations: 56     
    123. Dumitrescu AM, Refetoff S. Inherited defects of thyroid hormone metabolism. Ann Endocrinol (Paris). 2011 Apr; 72(2):95-8. PMID: 21511232; PMCID: PMC3094475.
      Citations: 9     Fields:    
    124. Sriphrapradang C, Tenenbaum-Rakover Y, Weiss M, Barkoff MS, Admoni O, Kawthar D, Caltabiano G, Pardo L, Dumitrescu AM, Refetoff S. The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation. J Clin Endocrinol Metab. 2011 Jun; 96(6):E1001-6. PMID: 21490078; PMCID: PMC3100752.
      Citations: 15     Fields:    Translation:Humans
    125. Hermanns P, Grasberger H, Refetoff S, Pohlenz J. Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. J Clin Endocrinol Metab. 2011 Jun; 96(6):E977-81. PMID: 21450989; PMCID: PMC3100746.
      Citations: 11     Fields:    Translation:HumansCells
    126. Hulur I, Hermanns P, Nestoris C, Heger S, Refetoff S, Pohlenz J, Grasberger H. A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. J Clin Endocrinol Metab. 2011 May; 96(5):E841-5. PMID: 21367925; PMCID: PMC3085204.
      Citations: 23     Fields:    Translation:HumansCells
    127. Barca-Mayo O, Liao XH, Alonso M, Di Cosmo C, Hernandez A, Refetoff S, Weiss RE. Thyroid hormone receptor a and regulation of type 3 deiodinase. Mol Endocrinol. 2011 Apr; 25(4):575-83. PMID: 21292823; PMCID: PMC3063087.
      Citations: 24     Fields:    Translation:AnimalsCells
    128. Liao XH, Di Cosmo C, Dumitrescu AM, Hernandez A, Van Sande J, St Germain DL, Weiss RE, Galton VA, Refetoff S. Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes. Endocrinology. 2011 Mar; 152(3):1180-91. PMID: 21285310; PMCID: PMC3040057.
      Citations: 35     Fields:    Translation:Animals
    129. Franco AT, Malaguarnera R, Refetoff S, Liao XH, Lundsmith E, Kimura S, Pritchard C, Marais R, Davies TF, Weinstein LS, Chen M, Rosen N, Ghossein R, Knauf JA, Fagin JA. Thyrotrophin receptor signaling dependence of Braf-induced thyroid tumor initiation in mice. Proc Natl Acad Sci U S A. 2011 Jan 25; 108(4):1615-20. PMID: 21220306; PMCID: PMC3029699.
      Citations: 111     Fields:    
    130. Moeller LC, Haselhorst NE, Dumitrescu AM, Cao X, Seo H, Refetoff S, Mann K, Janssen OE. Stanniocalcin 1 induction by thyroid hormone depends on thyroid hormone receptor ß and phosphatidylinositol 3-kinase activation. Exp Clin Endocrinol Diabetes. 2011 Feb; 119(2):81-5. PMID: 20827662; PMCID: PMC5800749.
      Citations: 6     Fields:    Translation:HumansCells
    131. Di Cosmo C, Liao XH, Dumitrescu AM, Philp NJ, Weiss RE, Refetoff S. Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. J Clin Invest. 2010 Sep; 120(9):3377-88. PMID: 20679730; PMCID: PMC2929715.
      Citations: 62     Fields:    
    132. Antico-Arciuch VG, Dima M, Liao XH, Refetoff S, Di Cristofano A. Cross-talk between PI3K and estrogen in the mouse thyroid predisposes to the development of follicular carcinomas with a higher incidence in females. Oncogene. 2010 Oct 21; 29(42):5678-86. PMID: 20676139; PMCID: PMC2967724.
      Citations: 36     Fields:    
    133. Weiss RE, Dumitrescu A, Refetoff S. Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010 Jul; 95(7):3094-102. PMID: 20610605; PMCID: PMC2928892.
      Citations: 17     Fields:    Translation:Humans
    134. Barkoff MS, Kocherginsky M, Weiss RE, Refetoff S, Anselmo J. Autoimmunity in patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 2010 Jul; 95(7):3189-93. PMID: 20444926; PMCID: PMC2928894.
      Citations: 27     Fields:    Translation:Humans
    135. Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S. The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20. PMID: 19769464; PMCID: PMC2864657.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    136. Wang D, Xia X, Weiss RE, Refetoff S, Yen PM. Distinct and histone-specific modifications mediate positive versus negative transcriptional regulation of TSHalpha promoter. PLoS One. 2010 Mar 24; 5(3):e9853. PMID: 20352046; PMCID: PMC2844428.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    137. Morte B, Ceballos A, Diez D, Dumitrescu AM, Di Cosmo C, Galton VA, Refetoff S, Bernal J, Grijota-Martínez C. Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice. Endocrinology. 2010 May; 151(5):2381-7. PMID: 20211971; PMCID: PMC2869252.
      Citations: 51     Fields:    Translation:Animals
    138. 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, Jungbluth H, Bönnemann CG. White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Dev Med Child Neurol. 2010 May; 52(5):475-82. PMID: 19811520; PMCID: PMC5800746.
      Citations: 28     Fields:    Translation:HumansCells
    139. Di Cosmo C, McLellan N, Liao XH, Khanna KK, Weiss RE, Papp L, Refetoff S. Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). J Clin Endocrinol Metab. 2009 Oct; 94(10):4003-9. PMID: 19602558; PMCID: PMC2758735.
      Citations: 47     Fields:    Translation:HumansCells
    140. Di Cosmo C, Liao XH, Dumitrescu AM, Weiss RE, Refetoff S. A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology. 2009 Sep; 150(9):4450-8. PMID: 19497976; PMCID: PMC2736078.
      Citations: 43     Fields:    Translation:Animals
    141. Moeller LC, Wardrip C, Niekrasz M, Refetoff S, Weiss RE. Comparison of thyroidectomized calf serum and stripped serum for the study of thyroid hormone action in human skin fibroblasts in vitro. Thyroid. 2009 Jun; 19(6):639-44. PMID: 19445627; PMCID: PMC2857443.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    142. Alonso M, Goodwin C, Liao X, Ortiga-Carvalho T, Machado DS, Wondisford FE, Refetoff S, Weiss RE. In vivo interaction of steroid receptor coactivator (SRC)-1 and the activation function-2 domain of the thyroid hormone receptor (TR) beta in TRbeta E457A knock-in and SRC-1 knockout mice. Endocrinology. 2009 Aug; 150(8):3927-34. PMID: 19406944; PMCID: PMC2717870.
      Citations: 14     Fields:    Translation:AnimalsCells
    143. Miller KA, Yeager N, Baker K, Liao XH, Refetoff S, Di Cristofano A. Oncogenic Kras requires simultaneous PI3K signaling to induce ERK activation and transform thyroid epithelial cells in vivo. Cancer Res. 2009 Apr 15; 69(8):3689-94. PMID: 19351816; PMCID: PMC2669852.
      Citations: 70     Fields:    
    144. Dumitrescu AM, Liao XH, Bin-Abbas B, Hoeflich J, Refetoff S, Schomburg L, Köhrle J. Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid. 2009 Mar; 19(3):277-81. PMID: 19265499; PMCID: PMC2858371.
      Citations: 20     Fields:    Translation:Humans
    145. Tenenbaum-Rakover Y, Grasberger H, Mamanasiri S, Ringkananont U, Montanelli L, Barkoff MS, Dahood AM, Refetoff S. Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community. J Clin Endocrinol Metab. 2009 May; 94(5):1706-12. PMID: 19240155; PMCID: PMC2684469.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    146. Kohn B, Grasberger H, Lam LL, Ferrara AM, Refetoff S. A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant. Thyroid. 2009 Feb; 19(2):187-91. PMID: 19191749; PMCID: PMC2858372.
      Citations: 1     Fields:    Translation:Humans
    147. Belinchon MM, Sanchez-Mendoza E, Grijota-Martinez C, Dumitrescu AM, Refetoff S, Morte B, Bernal J, Ceballos A. Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. Endocrinology. 2009 May; 150(5):2491-6. PMID: 19147674; PMCID: PMC2671898.
      Citations: 62     Fields:    Translation:AnimalsCells
    148. Bayraktaroglu T, Noel J, Alagol F, Colak N, Mukaddes NM, Refetoff S. Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone. Exp Clin Endocrinol Diabetes. 2009 Jan; 117(1):34-7. PMID: 18561095; PMCID: PMC5796805.
      Citations: 3     Fields:    Translation:Humans
    149. Chester J, Rotenstein D, Ringkananont U, Steuer G, Carlin B, Stewart L, Grasberger H, Refetoff S. Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene. J Pediatr Endocrinol Metab. 2008 May; 21(5):479-86. PMID: 18655531; PMCID: PMC5800789.
      Citations: 6     Fields:    Translation:Humans
    150. Refetoff S. Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone. Nat Clin Pract Endocrinol Metab. 2008 Jan; 4(1):1. PMID: 18084342.
      Citations: 14     Fields:    Translation:Humans
    151. Papadimitriou A, Dumitrescu AM, Papavasiliou A, Fretzayas A, Nicolaidou P, Refetoff S. A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics. 2008 Jan; 121(1):e199-202. PMID: 18166539.
      Citations: 20     Fields:    Translation:Humans
    152. Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab. 2008 Feb; 93(2):605-10. PMID: 18042646; PMCID: PMC2243227.
      Citations: 58     Fields:    Translation:HumansCells
    153. Araujo-Vilar D, 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, Palos F, García-Rendueles ME, Obregon MJ. Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. J Clin Endocrinol Metab. 2008 Jan; 93(1):267-77. PMID: 17940114; PMCID: PMC2190748.
      Citations: 11     Fields:    Translation:HumansCells
    154. Bassett JH, Williams AJ, Murphy E, Boyde A, Howell PG, Swinhoe R, Archanco M, Samarut J, Costagliola S, Vassart G, Weiss RE, Refetoff S, Williams GR, Flamant F. A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism. Mol Endocrinol. 2008 Feb; 22(2):501-12. PMID: 17932107; PMCID: PMC2234586.
      Citations: 41     Fields:    
    155. Hernandez A, Martinez ME, Liao XH, Van Sande J, Refetoff S, Galton VA, St Germain DL. Type 3 deiodinase deficiency results in functional abnormalities at multiple levels of the thyroid axis. Endocrinology. 2007 Dec; 148(12):5680-7. PMID: 17823249.
      Citations: 40     Fields:    Translation:Animals
    156. Alonso M, Goodwin C, Liao X, Page D, Refetoff S, Weiss RE. Effects of maternal levels of thyroid hormone (TH) on the hypothalamus-pituitary-thyroid set point: studies in TH receptor beta knockout mice. Endocrinology. 2007 Nov; 148(11):5305-12. PMID: 17690164.
      Citations: 15     Fields:    Translation:HumansAnimals
    157. Moeller LC, Alonso M, Liao X, Broach V, Dumitrescu A, Van Sande J, Montanelli L, Skjei S, Goodwin C, Grasberger H, Refetoff S, Weiss RE. Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats. Endocrinology. 2007 Oct; 148(10):4727-33. PMID: 17640981.
      Citations: 8     Fields:    Translation:AnimalsCells
    158. Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007 Jun; 21(2):277-305. PMID: 17574009.
      Citations: 77     Fields:    Translation:HumansAnimals
    159. Grasberger H, Van Sande J, Hag-Dahood Mahameed A, Tenenbaum-Rakover Y, Refetoff S. A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis. J Clin Endocrinol Metab. 2007 Jul; 92(7):2816-20. PMID: 17456567.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    160. Tenenbaum-Rakover Y, Mamanasiri S, Ris-Stalpers C, German A, Sack J, Allon-Shalev S, Pohlenz J, Refetoff S. Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. Clin Endocrinol (Oxf). 2007 May; 66(5):695-702. PMID: 17381485.
      Citations: 8     Fields:    Translation:Humans
    161. Grasberger H, De Deken X, Miot F, Pohlenz J, Refetoff S. Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. Mol Endocrinol. 2007 Jun; 21(6):1408-21. PMID: 17374849.
      Citations: 35     Fields:    Translation:HumansAnimalsCells
    162. Dumitrescu AM, Refetoff S. Novel biological and clinical aspects of thyroid hormone metabolism. Endocr Dev. 2007; 10:127-139. PMID: 17684394.
      Citations: 2     Fields:    Translation:HumansAnimals
    163. Baxter JD, Forrest D, Refetoff S, Samuels H, Scanlan TS, Samarut J, Flamant F, Vennström B. International Union of Pharmacology. LIX. The pharmacology and classification of the nuclear receptor superfamily: thyroid hormone receptors. Pharmacol Rev. 2006 Dec; 58(4):705-11. PMID: 17132849.
      Citations: 49     Fields:    Translation:HumansAnimals
    164. Mannavola D, Vannucchi G, Fugazzola L, Cirello V, Campi I, Radetti G, Persani L, Refetoff S, Beck-Peccoz P. TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. J Mol Med (Berl). 2006 Oct; 84(10):864-71. PMID: 16947003.
      Citations: 8     Fields:    Translation:HumansCells
    165. Moeller LC, Cao X, Dumitrescu AM, Seo H, Refetoff S. Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor beta through the phosphatidylinositol 3-kinase pathway. Nucl Recept Signal. 2006; 4:e020. PMID: 16862226; PMCID: PMC1513074.
      Citations: 36     Fields:    
    166. Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff S. Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 Sep; 91(9):3471-7. PMID: 16804041.
      Citations: 15     Fields:    Translation:HumansCells
    167. Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology. 2006 Sep; 147(9):4036-43. PMID: 16709608.
      Citations: 106     Fields:    Translation:HumansAnimals
    168. Grasberger H, Refetoff S. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. J Biol Chem. 2006 Jul 07; 281(27):18269-72. PMID: 16651268.
      Citations: 112     Fields:    Translation:HumansAnimalsCells
    169. Wu SY, Cohen RN, Simsek E, Senses DA, Yar NE, Grasberger H, Noel J, Refetoff S, Weiss RE. A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 May; 91(5):1887-95. PMID: 16464943.
      Citations: 13     Fields:    Translation:HumansCells
    170. Takeuchi Y, Suzuki D, Oda S, Refetoff S, Seki K, Tsunekawa K, Kasahara T, Murakami M, Murata Y. Unique regulation of thyroid hormone metabolism during fasting in the house musk shrew (Suncus murinus, Insectivora: Soricidae). Gen Comp Endocrinol. 2006 May 01; 146(3):236-41. PMID: 16426605.
      Citations: 1     Fields:    Translation:Animals
    171. Nikrodhanond AA, Ortiga-Carvalho TM, Shibusawa N, Hashimoto K, Liao XH, Refetoff S, Yamada M, Mori M, Wondisford FE. Dominant role of thyrotropin-releasing hormone in the hypothalamic-pituitary-thyroid axis. J Biol Chem. 2006 Feb 24; 281(8):5000-7. PMID: 16339138.
      Citations: 18     Fields:    Translation:Animals
    172. Ringkananont U, Van Durme J, Montanelli L, Ugrasbul F, Yu YM, Weiss RE, Refetoff S, Grasberger H. Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I). Mol Endocrinol. 2006 Apr; 20(4):893-903. PMID: 16339276.
      Citations: 11     Fields:    Translation:HumansCells
    173. Lisi S, Botta R, Pinchera A, Collins AB, Refetoff S, Arvan P, Bu G, Grasso L, Marshansky V, Bechoua S, Hurtado-Lorenzo A, Marcocci C, Brown D, McCluskey RT, Marinò M. Defective thyroglobulin storage in LDL receptor-associated protein-deficient mice. Am J Physiol Cell Physiol. 2006 Apr; 290(4):C1160-7. PMID: 16306127.
      Citations: 4     Fields:    Translation:HumansAnimals
    174. Qin K, Ehrmann DA, Cox N, Refetoff S, Rosenfield RL. Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome. J Clin Endocrinol Metab. 2006 Jan; 91(1):270-6. PMID: 16263811; PMCID: PMC1522092.
      Citations: 20     Fields:    Translation:Humans
    175. Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52. PMID: 16228000.
      Citations: 124     Fields:    Translation:HumansCells
    176. McDermott JH, Agha A, McMahon M, Gasparro D, Moeller L, Dumitrescu AM, Refetoff S, Sreenan S. A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta. Ir J Med Sci. 2005 Oct-Dec; 174(4):60-4. PMID: 16445164.
      Citations:    Fields:    Translation:Humans
    177. Grasberger H, Vaxillaire M, Pannain S, Beck JC, Mimouni-Bloch A, Vatin V, Vassart G, Froguel P, Refetoff S. Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. Hum Genet. 2005 Dec; 118(3-4):348-55. PMID: 16189712.
      Citations: 6     Fields:    
    178. Ortiga-Carvalho TM, Shibusawa N, Nikrodhanond A, Oliveira KJ, Machado DS, Liao XH, Cohen RN, Refetoff S, Wondisford FE. Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface. J Clin Invest. 2005 Sep; 115(9):2517-23. PMID: 16100573; PMCID: PMC1184039.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    179. Wu SY, Sadow PM, Refetoff S, Weiss RE. Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T). J Lab Clin Med. 2005 Aug; 146(2):85-94. PMID: 16099238.
      Citations: 8     Fields:    Translation:Humans
    180. Moeller LC, Dumitrescu AM, Refetoff S. Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes. Mol Endocrinol. 2005 Dec; 19(12):2955-63. PMID: 16051672.
      Citations: 35     Fields:    Translation:HumansCells
    181. Grasberger H, Ringkananont U, Croxson M, Refetoff S. Resistance to thyroid hormone in a patient with thyroid dysgenesis. Thyroid. 2005 Jul; 15(7):730-3. PMID: 16053391.
      Citations: 5     Fields:    Translation:Humans
    182. Knauf JA, Ma X, Smith EP, Zhang L, Mitsutake N, Liao XH, Refetoff S, Nikiforov YE, Fagin JA. Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation. Cancer Res. 2005 May 15; 65(10):4238-45. PMID: 15899815.
      Citations: 136     Fields:    Translation:HumansAnimalsCells
    183. Grasberger H, Mimouni-Bloch A, Vantyghem MC, van Vliet G, Abramowicz M, Metzger DL, Abdullatif H, Rydlewski C, Macchia PE, Scherberg NH, van Sande J, Mimouni M, Weiss RE, Vassart G, Refetoff S. Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci. J Clin Endocrinol Metab. 2005 Jul; 90(7):4025-34. PMID: 15870119.
      Citations: 11     Fields:    Translation:Humans
    184. Dumitrescu AM, Best TT, Hanefeld F, Refetoff S, Brockmann K. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol. 2005 Jun; 252(6):663-6. PMID: 15834651.
      Citations: 25     Fields:    Translation:Humans
    185. Aksoy DY, Gurlek A, Ringkananont U, Weiss RE, Refetoff S. Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family. J Endocrinol Invest. 2005 Apr; 28(4):379-83. PMID: 15966514.
      Citations: 10     Fields:    Translation:Humans
    186. Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol Endocrinol. 2005 Jul; 19(7):1779-91. PMID: 15718293.
      Citations: 27     Fields:    Translation:HumansCells
    187. Lado-Abeal J, Dumitrescu AM, Liao XH, Cohen RN, Pohlenz J, Weiss RE, Lebrethon MC, Verloes A, Refetoff S. A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab. 2005 Mar; 90(3):1760-7. PMID: 15598685.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    188. Kim J, Reutrakul S, Davis DB, Kaplan EL, Refetoff S. Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess. Eur J Endocrinol. 2004 Dec; 151(6):771-7. PMID: 15588245.
      Citations: 9     Fields:    Translation:Humans
    189. Moeller LC, Dumitrescu AM, Walker RL, Meltzer PS, Refetoff S. Thyroid hormone responsive genes in cultured human fibroblasts. J Clin Endocrinol Metab. 2005 Feb; 90(2):936-43. PMID: 15507505.
      Citations: 27     Fields:    Translation:HumansCells
    190. Cao X, Kambe F, Moeller LC, Refetoff S, Seo H. Thyroid hormone induces rapid activation of Akt/protein kinase B-mammalian target of rapamycin-p70S6K cascade through phosphatidylinositol 3-kinase in human fibroblasts. Mol Endocrinol. 2005 Jan; 19(1):102-12. PMID: 15388791.
      Citations: 80     Fields:    Translation:HumansCells
    191. Bonomi M, Morgenthaler NG, Van Durme J, Refetoff S, Vassart G, Costagliola S, Panneels V. Delineation of the discontinuous-conformational epitope of a monoclonal antibody displaying full in vitro and in vivo thyrotropin activity. Mol Endocrinol. 2004 Dec; 18(12):3020-34. PMID: 15319453.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    192. Cao D, Karrison T, Weiss RE, Refetoff S, Anselmo J. Fetal loss associated with excess thyroid hormone exposure. JAMA. 2004 Aug 11; 292(6):691-5. PMID: 15304465.
      Citations: 57     Fields:    Translation:Humans
    193. Borck G, Topaloglu AK, Korsch E, Wildhardt G, Onenli-Mungan N, Yuksel B, Aumann U, Koch G, Ozer G, Scherberg NH, Refetoff S, Pohlenz J, Martiné U, Pfäffle R. Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. J Clin Endocrinol Metab. 2004 Aug; 89(8):4136-41. PMID: 15292359.
      Citations: 12     Fields:    Translation:Humans
    194. Bereket A, Liao XH, Turoglu T, Aribal E, Refetoff S. Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter. J Pediatr Endocrinol Metab. 2004 Jul; 17(7):1021-9. PMID: 15301052.
      Citations: 1     Fields:    Translation:HumansCells
    195. Fingerhut A, Reutrakul S, Knuedeler SD, Moeller LC, Greenlee C, Refetoff S, Janssen OE. Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide. J Clin Endocrinol Metab. 2004 May; 89(5):2477-83. PMID: 15126580.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    196. Reutrakul S, Hathout EH, Janner D, Hara M, Donfack J, Bass J, Refetoff S. Familial juvenile autoimmune hypothyroidism, pituitary enlargement, obesity, and insulin resistance. Thyroid. 2004 Apr; 14(4):311-9. PMID: 15142366.
      Citations: 1     Fields:    Translation:Humans
    197. Mannavola D, Moeller LC, Beck-Peccoz P, Persani L, Weiss RE, Refetoff S. A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1). J Endocrinol Invest. 2004 Apr; 27(4):318-22. PMID: 15233549.
      Citations:    Fields:    Translation:HumansCells
    198. Mizuno Y, Kanou Y, Rogatcheva M, Imai T, Refetoff S, Seo H, Murata Y. Genomic organization of mouse ZAKI-4 gene that encodes ZAKI-4 alpha and beta isoforms, endogenous calcineurin inhibitors, and changes in the expression of these isoforms by thyroid hormone in adult mouse brain and heart. Eur J Endocrinol. 2004 Mar; 150(3):371-80. PMID: 15012624.
      Citations: 7     Fields:    Translation:AnimalsCells
    199. Refetoff S, Anselmo J. Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid. 2004 Jan; 14(1):71-4. PMID: 15009917.
      Citations: 13     Fields:    Translation:Humans
    200. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004 Jan; 74(1):168-75. PMID: 14661163; PMCID: PMC1181904.
      Citations: 211     Fields:    Translation:HumansCells
    201. Lisi S, Pinchera A, McCluskey RT, Willnow TE, Refetoff S, Marcocci C, Vitti P, Menconi F, Grasso L, Luchetti F, Collins AB, Marino M. Preferential megalin-mediated transcytosis of low-hormonogenic thyroglobulin: a control mechanism for thyroid hormone release. Proc Natl Acad Sci U S A. 2003 Dec 09; 100(25):14858-63. PMID: 14657389; PMCID: PMC299828.
      Citations: 16     Fields:    Translation:HumansAnimals
    202. Narendran P, Lado-Abeal J, Moeller LC, Refetoff S. Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene. Clin Endocrinol (Oxf). 2003 Dec; 59(6):824-5. PMID: 14974930.
      Citations: 1     Fields:    Translation:HumansCells
    203. 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, Tonacchera M. Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. Clin Endocrinol (Oxf). 2003 Oct; 59(4):500-6. PMID: 14510914.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    204. Moeller LC, Kimura S, Kusakabe T, Liao XH, Van Sande J, Refetoff S. Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor. Mol Endocrinol. 2003 Nov; 17(11):2295-302. PMID: 12907760.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    205. Shibusawa N, Hashimoto K, Nikrodhanond AA, Liberman MC, Applebury ML, Liao XH, Robbins JT, Refetoff S, Cohen RN, Wondisford FE. Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo. J Clin Invest. 2003 Aug; 112(4):588-97. PMID: 12925699; PMCID: PMC171393.
      Citations: 32     Fields:    Translation:AnimalsCells
    206. Refetoff S. Resistance to thyrotropin. J Endocrinol Invest. 2003 Aug; 26(8):770-9. PMID: 14669836.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    207. Refetoff S. The syndrome of resistance to thyroid stimulating hormone. J Chin Med Assoc. 2003 Aug; 66(8):441-52. PMID: 14604307.
      Citations: 2     Fields:    Translation:HumansCells
    208. Lado-Abeal J, Molinaro E, DeValk E, Pacini F, Refetoff S. The effect of short-term treatment with recombinant human thyroid-stimulating hormones on leydig cell function in men. Thyroid. 2003 Jul; 13(7):649-52. PMID: 12964970.
      Citations:    Fields:    Translation:HumansCells
    209. Yen PM, Feng X, Flamant F, Chen Y, Walker RL, Weiss RE, Chassande O, Samarut J, Refetoff S, Meltzer PS. Effects of ligand and thyroid hormone receptor isoforms on hepatic gene expression profiles of thyroid hormone receptor knockout mice. EMBO Rep. 2003 Jun; 4(6):581-7. PMID: 12776178; PMCID: PMC1319202.
      Citations: 38     Fields:    Translation:AnimalsCells
    210. Matalon ST, Blank M, Levy Y, Carp HJ, Arad A, Burek L, Grunebaum E, Sherer Y, Ornoy A, Refetoff S, Weiss RE, Rose NR, Shoenfeld Y. The pathogenic role of anti-thyroglobulin antibody on pregnancy: evidence from an active immunization model in mice. Hum Reprod. 2003 May; 18(5):1094-9. PMID: 12721190.
      Citations: 21     Fields:    Translation:HumansAnimalsPHPublic Health
    211. Ishay A, Dumitrescu A, Luboshitzky R, Rakover Y, Refetoff S. A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child. Thyroid. 2003 Apr; 13(4):409-12. PMID: 12804112.
      Citations: 1     Fields:    Translation:Humans
    212. Refetoff S. Resistance to thyroid hormone with and without receptor gene mutations. Ann Endocrinol (Paris). 2003 Feb; 64(1):23-5. PMID: 12707628.
      Citations: 7     Fields:    Translation:HumansAnimals
    213. Macchia PE, Jiang P, Yuan YD, Chandarardna RA, Weiss RE, Chassande O, Samarut J, Refetoff S, Burant CF. RXR receptor agonist suppression of thyroid function: central effects in the absence of thyroid hormone receptor. Am J Physiol Endocrinol Metab. 2002 Aug; 283(2):E326-31. PMID: 12110538.
      Citations: 6     Fields:    Translation:AnimalsCells
    214. Rogatcheva M, Hayashi Y, Oda S, Seo H, Cua K, Refetoff S, Murakami M, Mori M, Murata Y. Type 1 iodothyronine deiodinase in the house musk shrew (Suncus murinus, Insectivora: Soricidae): cloning and characterization of complementary DNA, unique tissue distribution and regulation by T(3). Gen Comp Endocrinol. 2002 Jun 01; 127(1):48-58. PMID: 12161201.
      Citations:    Fields:    Translation:AnimalsCells
    215. Takeuchi Y, Murata Y, Sadow P, Hayashi Y, Seo H, Xu J, O'Malley BW, Weiss RE, Refetoff S. Steroid receptor coactivator-1 deficiency causes variable alterations in the modulation of T(3)-regulated transcription of genes in vivo. Endocrinology. 2002 Apr; 143(4):1346-52. PMID: 11897691.
      Citations: 17     Fields:    Translation:Animals
    216. Weiss RE, Gehin M, Xu J, Sadow PM, O'Malley BW, Chambon P, Refetoff S. Thyroid function in mice with compound heterozygous and homozygous disruptions of SRC-1 and TIF-2 coactivators: evidence for haploinsufficiency. Endocrinology. 2002 Apr; 143(4):1554-7. PMID: 11897715.
      Citations: 9     Fields:    Translation:Animals
    217. Takeuchi Y, Murata Y, Sadow P, Hayashi Y, Seo H, Xu J, O'Malley BW, Weiss RE, Refetoff S. Steroid Receptor Coactivator-1 Deficiency Causes Variable Alterations in the Modulation of T3-Regulated Transcription of Genes in Vivo. Endocrinology. 2002 Apr 01; 143(4):1346-1352. PMID: 28201486.
      Citations:    
    218. Janssen OE, Golcher HM, Grasberger H, Saller B, Mann K, Refetoff S. Characterization of T(4)-binding globulin cleaved by human leukocyte elastase. J Clin Endocrinol Metab. 2002 Mar; 87(3):1217-22. PMID: 11889191.
      Citations: 6     Fields:    Translation:HumansCells
    219. Reutrakul S, Dumitrescu A, Macchia PE, Moll GW, Vierhapper H, Refetoff S. Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping. J Clin Endocrinol Metab. 2002 Mar; 87(3):1045-51. PMID: 11889160.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    220. Pohlenz J, Dumitrescu A, Zundel D, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S, Martiné U, Schönberger W. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002 Feb; 109(4):469-73. PMID: 11854318; PMCID: PMC150877.
      Citations: 58     Fields:    Translation:HumansAnimalsCells
    221. Janssen OE, Lahner H, Grasberger H, Spring SA, Saller B, Mann K, Refetoff S, Einspanier R. Characterization and primary structures of bovine and porcine thyroxine-binding globulin. Mol Cell Endocrinol. 2002 Jan 15; 186(1):27-35. PMID: 11850119.
      Citations: 2     Fields:    Translation:AnimalsCells
    222. Weiss RE, Chassande O, Koo EK, Macchia PE, Cua K, Samarut J, Refetoff S. Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes. J Endocrinol. 2002 Jan; 172(1):177-85. PMID: 11786385.
      Citations: 3     Fields:    Translation:AnimalsCells
    223. Pohlenz J, Dumitrescu A, Aumann U, Koch G, Melchior R, Prawitt D, Refetoff S. Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. J Clin Endocrinol Metab. 2002 Jan; 87(1):336-9. PMID: 11788671.
      Citations: 11     Fields:    Translation:HumansCells
    224. Refetoff S, Robaye B, Dumont JE, Schurmans S, Clément S. Low TSH requirement and goiter in transgenic mice overexpressing IGF-I and IGF-Ir receptor in the thyroid gland. Endocrinology. 2001 Dec; 142(12):5131-9. PMID: 11713206.
      Citations: 29     Fields:    Translation:HumansAnimals
    225. Pohlenz J, Sadow PM, Koffler T, Weiss RE, Refetoff S, Schönberger W. Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. J Pediatr. 2001 Dec; 139(6):887-91. PMID: 11743520.
      Citations: 2     Fields:    Translation:Humans
    226. Reutrakul S, Janssen OE, Refetoff S. Three novel mutations causing complete T(4)-binding globulin deficiency. J Clin Endocrinol Metab. 2001 Oct; 86(10):5039-44. PMID: 11600582.
      Citations: 6     Fields:    Translation:HumansCells
    227. Anselmo J, Kay T, Dennis K, Szmulewitz R, Refetoff S, Weiss RE. Resistance to thyroid hormone does not abrogate the transient thyrotoxicosis associated with gestation: report of a case. J Clin Endocrinol Metab. 2001 Sep; 86(9):4273-5. PMID: 11549661.
      Citations: 5     Fields:    Translation:Humans
    228. Ando S, Sarlis NJ, Krishnan J, Feng X, Refetoff S, Zhang MQ, Oldfield EH, Yen PM. Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance. Mol Endocrinol. 2001 Sep; 15(9):1529-38. PMID: 11518802.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    229. Plateroti M, Harvey CB, Williams GR, Weiss RE, Refetoff S, Willott JF, Sundin V, Roux JP, Malaval L, Hara M, Samarut J, Chassande O, Gauthier K. Genetic analysis reveals different functions for the products of the thyroid hormone receptor alpha locus. Mol Cell Biol. 2001 Jul; 21(14):4748-60. PMID: 11416150; PMCID: PMC87157.
      Citations: 52     Fields:    Translation:HumansAnimalsCells
    230. Agretti P, Ceccarini G, Lenza R, Refetoff S, Santini F, Pinchera A, Chiovato L, Vitti P, Tonacchera M. Autoantibodies from patients with autoimmune thyroid disease do not interfere with the activity of the human iodide symporter gene stably transfected in CHO cells. Eur J Endocrinol. 2001 Jun; 144(6):611-8. PMID: 11375795.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    231. Macchia PE, Takeuchi Y, Kawai T, Cua K, Gauthier K, Chassande O, Seo H, Hayashi Y, Samarut J, Murata Y, Weiss RE, Refetoff S. Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha. Proc Natl Acad Sci U S A. 2001 Jan 02; 98(1):349-54. PMID: 11120878; PMCID: PMC14593.
      Citations: 37     Fields:    Translation:Animals
    232. Kaneshige M, Kaneshige K, Zhu X, Dace A, Garrett L, Carter TA, Kazlauskaite R, Pankratz DG, Wynshaw-Boris A, Refetoff S, Weintraub B, Willingham MC, Barlow C, Cheng S. Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone. Proc Natl Acad Sci U S A. 2000 Nov 21; 97(24):13209-14. PMID: 11069286; PMCID: PMC27204.
      Citations: 92     Fields:    Translation:Animals
    233. Reutrakul S, Sadow PM, Pannain S, Pohlenz J, Carvalho GA, Macchia PE, Weiss RE, Refetoff S. Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. J Clin Endocrinol Metab. 2000 Oct; 85(10):3609-17. PMID: 11061510.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    234. Pannain S, Feldman M, Eiholzer U, Weiss RE, Scherberg NH, Refetoff S. Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine. J Clin Endocrinol Metab. 2000 Aug; 85(8):2786-92. PMID: 10946882.
      Citations: 12     Fields:    Translation:Humans
    235. Pohlenz J, Duprez L, Weiss RE, Vassart G, Refetoff S, Costagliola S. Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters. J Clin Endocrinol Metab. 2000 Jul; 85(7):2366-9. PMID: 10902780.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    236. Parma J, Scherberg NH, Delange F, Van Vliet G, Duprez L, Bourdoux P, Bergmann P, Vassart G, Refetoff S, Heinrichs C. Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene. Thyroid. 2000 May; 10(5):387-91. PMID: 10884185.
      Citations: 9     Fields:    Translation:HumansCells
    237. Many MC, Denef JF, Pohlenz J, Refetoff S, Vassart G, Costagliola S. Genetic immunization of outbred mice with thyrotropin receptor cDNA provides a model of Graves' disease. J Clin Invest. 2000 Mar; 105(6):803-11. PMID: 10727449; PMCID: PMC377458.
      Citations: 41     Fields:    Translation:HumansAnimalsCellsPHPublic Health
    238. Weiss RE, Refetoff S. Resistance to thyroid hormone. Rev Endocr Metab Disord. 2000 Jan; 1(1-2):97-108. PMID: 11704998.
      Citations: 50     Fields:    Translation:Humans
    239. Janssen OE, Astner ST, Grasberger H, Gunn SK, Refetoff S. Identification of thyroxine-binding globulin-San Diego in a family from Houston and its characterization by in vitro expression using Xenopus oocytes. J Clin Endocrinol Metab. 2000 Jan; 85(1):368-72. PMID: 10634412.
      Citations: 2     Fields:    Translation:HumansAnimalsCellsCTClinical Trials
    240. Gavrilova O, Leon LR, Marcus-Samuels B, Mason MM, Castle AL, Refetoff S, Vinson C, Reitman ML. Torpor in mice is induced by both leptin-dependent and -independent mechanisms. Proc Natl Acad Sci U S A. 1999 Dec 07; 96(25):14623-8. PMID: 10588755; PMCID: PMC24486.
      Citations: 63     Fields:    Translation:Animals
    241. Pohlenz J, Manders L, Sadow PM, Kansal PC, Refetoff S, Weiss RE. A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone. Thyroid. 1999 Dec; 9(12):1195-203. PMID: 10646658.
      Citations: 1     Fields:    Translation:Humans
    242. Pohlenz J, Maqueem A, Cua K, Weiss RE, Van Sande J, Refetoff S. Improved radioimmunoassay for measurement of mouse thyrotropin in serum: strain differences in thyrotropin concentration and thyrotroph sensitivity to thyroid hormone. Thyroid. 1999 Dec; 9(12):1265-71. PMID: 10646670.
      Citations: 68     Fields:    Translation:HumansAnimalsCells
    243. Pohlenz J, Weiss RE, Macchia PE, Pannain S, Lau IT, Ho H, Refetoff S. Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1999 Nov; 84(11):3919-28. PMID: 10566629.
      Citations: 20     Fields:    Translation:Humans
    244. Pohlenz J, Koffler T, Refetoff S, Schönberger W. Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene. Thyroid. 1999 Oct; 9(10):1001-4. PMID: 10560954.
      Citations: 3     Fields:    Translation:HumansCells
    245. Costagliola S, Sunthorntepvarakul T, Migeotte I, Van Sande J, Kajava AM, Refetoff S, Vassart G. Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene. Thyroid. 1999 Oct; 9(10):995-1000. PMID: 10560953.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    246. Tiosano D, Pannain S, Vassart G, Parma J, Gershoni-Baruch R, Mandel H, Lotan R, Zaharan Y, Pery M, Weiss RE, Refetoff S, Hochberg Z. The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor. Thyroid. 1999 Sep; 9(9):887-94. PMID: 10524567.
      Citations: 14     Fields:    Translation:HumansCells
    247. Menjo M, Yamaguchi S, Murata Y, Hayashi Y, Nagaya T, Ohmori S, Refetoff S, Seo H. Responsiveness to thyroid hormone is enhanced in rat hepatocytes cultured as spheroids compared with that in monolayers: altered responsiveness to thyroid hormone possibly involves complex formed on thyroid hormone response elements. Thyroid. 1999 Sep; 9(9):959-67. PMID: 10524577.
      Citations: 6     Fields:    Translation:AnimalsCells
    248. Pohlenz J, Refetoff S. Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism. Biochimie. 1999 May; 81(5):469-76. PMID: 10403177.
      Citations: 15     Fields:    Translation:HumansAnimals
    249. Weiss RE, Xu J, Ning G, Pohlenz J, O'Malley BW, Refetoff S. Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone. EMBO J. 1999 Apr 01; 18(7):1900-4. PMID: 10202153; PMCID: PMC1171275.
      Citations: 61     Fields:    Translation:Animals
    250. Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J Clin Endocrinol Metab. 1999 Mar; 84(3):1061-71. PMID: 10084596.
      Citations: 15     Fields:    Translation:Humans
    251. Weiss RE, Refetoff S. Treatment of resistance to thyroid hormone--primum non nocere. J Clin Endocrinol Metab. 1999 Feb; 84(2):401-4. PMID: 10022391.
      Citations: 13     Fields:    Translation:HumansAnimals
    252. Weiss RE, Murata Y, Cua K, Hayashi Y, Seo H, Refetoff S. Thyroid hormone action on liver, heart, and energy expenditure in thyroid hormone receptor beta-deficient mice. Endocrinology. 1998 Dec; 139(12):4945-52. PMID: 9832432.
      Citations: 38     Fields:    Translation:Animals
    253. Weiss RE, Murata Y, Cua K, Hayashi Y, Seo H, Refetoff S. Thyroid Hormone Action on Liver, Heart, and Energy Expenditure in Thyroid Hormone Receptor ß-Deficient Mice* * Presented in part at the 69th Annual Meeting of the American Thyroid Association Meeting, November 14-17, 1996, San Diego, California. This study was supported in part by the National Institutes of Health Grant DK-17050 and the Seymour J. Abrams Thyroid Research Center; a grant from the Ministry of Health and Welfare, Japan (to H.S.); and Grant-in-Aid for Scientific Research (09671044) from the Ministry of Education, Science and Culture of Japan. Endocrinology. 1998 Dec 01; 139(12):4945-4952. PMID: 28204239.
      Citations:    
    254. Mohammed IA, Aldasouqi S, Schnute R, Refetoff S, Weiss RE, Iqbal N. The syndrome of resistance to thyroid hormone, misdiagnosed and treated as thyrotoxicosis. Endocr Pract. 1998 Nov-Dec; 4(6):391-5. PMID: 15251715.
      Citations:    Fields:    
    255. Carvalho GA, Weiss RE, Refetoff S. Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). J Clin Endocrinol Metab. 1998 Oct; 83(10):3604-8. PMID: 9768672.
      Citations: 6     Fields:    Translation:HumansCells
    256. Sunthornthepvarakul T, Likitmaskul S, Ngowngarmratana S, Angsusingha K, Kitvitayasak S, Scherberg NH, Refetoff S. Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. J Clin Endocrinol Metab. 1998 May; 83(5):1448-54. PMID: 9589637.
      Citations: 14     Fields:    Translation:Humans
    257. Hayashi Y, Xie J, Weiss RE, Pohlenz J, Refetoff S. Selective pituitary resistance to thyroid hormone produced by expression of a mutant thyroid hormone receptor beta gene in the pituitary gland of transgenic mice. Biochem Biophys Res Commun. 1998 Apr 07; 245(1):204-10. PMID: 9535809.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    258. Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S. Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. J Clin Invest. 1998 Mar 01; 101(5):1028-35. PMID: 9486973; PMCID: PMC508654.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    259. Carvalho GA, Weiss RE, Vladutiu AO, Refetoff S. Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. Thyroid. 1998 Feb; 8(2):161-5. PMID: 9510125.
      Citations: 5     Fields:    Translation:HumansCells
    260. Sunthornthepvarakul T, Angsusingha K, Likitmaskul S, Ngowngarmratana S, Refetoff S. Mutation in the thyroid hormone receptor beta gene (A317T) in a Thai subject with resistance to thyroid hormone. Thyroid. 1997 Dec; 7(6):905-7. PMID: 9459636.
      Citations: 1     Fields:    Translation:Humans
    261. Xie J, Pannain S, Pohlenz J, Weiss RE, Moltz K, Morlot M, Asteria C, Persani L, Beck-Peccoz P, Parma J, Vassart G, Refetoff S. Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. J Clin Endocrinol Metab. 1997 Dec; 82(12):3933-40. PMID: 9398691.
      Citations: 9     Fields:    Translation:HumansCells
    262. Pohlenz J, Medeiros-Neto G, Gross JL, Silveiro SP, Knobel M, Refetoff S. Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. Biochem Biophys Res Commun. 1997 Nov 17; 240(2):488-91. PMID: 9388506.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    263. Nagashima T, Yagi H, Nagashima K, Sakurai A, Onigata K, Nomura Y, Morikawa A, Matazow G, Couch RM, Weiss RE, Refetoff S. A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone. Thyroid. 1997 Oct; 7(5):771-3. PMID: 9349582.
      Citations: 2     Fields:    Translation:Humans
    264. Weiss RE, Forrest D, Pohlenz J, Cua K, Curran T, Refetoff S. Thyrotropin regulation by thyroid hormone in thyroid hormone receptor beta-deficient mice. Endocrinology. 1997 Sep; 138(9):3624-9. PMID: 9275045.
      Citations: 28     Fields:    Translation:Animals
    265. Hayashi Y, Yamaguchi S, Pohlenz J, Murata Y, Refetoff S, Seo H. Modification of thyroid hormone and 9-cis retinoic acid signaling by overexpression of their cognate receptors using adenoviral vector. Mol Cell Endocrinol. 1997 Jul 04; 131(1):59-66. PMID: 9256364.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    266. Weiss RE, Stein MA, Refetoff S. Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone. Thyroid. 1997 Jun; 7(3):389-93. PMID: 9226208.
      Citations: 12     Fields:    Translation:HumansCTClinical Trials
    267. Sreenan S, Caro JF, Refetoff S. Thyroid dysfunction is not associated with alterations in serum leptin levels. Thyroid. 1997 Jun; 7(3):407-9. PMID: 9226211.
      Citations: 9     Fields:    Translation:HumansCTClinical Trials
    268. Abramowicz MJ, Vassart G, Refetoff S. Probing the cause of thyroid dysgenesis. Thyroid. 1997 Jun; 7(3):325-6. PMID: 9226198.
      Citations: 4     Fields:    Translation:Humans
    269. Yagi H, Pohlenz J, Hayashi Y, Sakurai A, Refetoff S. Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity. J Clin Endocrinol Metab. 1997 May; 82(5):1608-14. PMID: 9141558.
      Citations: 62     Fields:    Translation:HumansAnimalsCells
    270. Weiss RE, Tunca H, Knapple WL, Faas FH, Refetoff S. Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C). Thyroid. 1997 Feb; 7(1):35-8. PMID: 9086567.
      Citations: 7     Fields:    Translation:Humans
    271. Refetoff S. Resistance to thyroid hormone. Curr Ther Endocrinol Metab. 1997; 6:132-4. PMID: 9174721.
      Citations: 1     Fields:    Translation:Humans
    272. Refetoff S, Tunca H, Wilansky DL, Mussey VC, Weiss RE. Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH). Thyroid. 1996 Dec; 6(6):571-3. PMID: 9001191.
      Citations: 5     Fields:    Translation:Humans
    273. Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, Tunca H, Seo H, Refetoff S. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. J Clin Endocrinol Metab. 1996 Dec; 81(12):4196-203. PMID: 8954015.
      Citations: 17     Fields:    Translation:Humans
    274. Ghazi AA, Refetoff S. Evaluation of pituitary and peripheral tissue markers of thyroid hormone action in an Iranian family with resistance to thyroid hormone. Thyroid. 1996 Dec; 6(6):589-93. PMID: 9001193.
      Citations:    Fields:    Translation:Humans
    275. Rosenthal IM, Refetoff S, Rich B, Barnes RB, Sunthornthepvarakul T, Parma J, Rosenfield RL. Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study. J Clin Endocrinol Metab. 1996 Oct; 81(10):3802-6. PMID: 8855841.
      Citations: 7     Fields:    Translation:Humans
    276. Weiss RE, Refetoff S. Effect of thyroid hormone on growth. Lessons from the syndrome of resistance to thyroid hormone. Endocrinol Metab Clin North Am. 1996 Sep; 25(3):719-30. PMID: 8879995.
      Citations: 8     Fields:    Translation:Humans
    277. Refetoff S, Marinov VS, Tunca H, Byrne MM, Sunthornthepvarakul T, Weiss RE. A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. J Clin Endocrinol Metab. 1996 Sep; 81(9):3335-40. PMID: 8784093.
      Citations: 7     Fields:    Translation:HumansCells
    278. Weiss RE, Tunca H, Gerstein HC, Refetoff S. A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH). Thyroid. 1996 Aug; 6(4):311-2. PMID: 8875752.
      Citations: 2     Fields:    Translation:Humans
    279. Cetani F, Costagliola S, Van Sande J, Refetoff S, Vassart G, Tonacchera M. Functional characteristics of a variant thyrotropin receptor. Eur J Biochem. 1996 Jun 01; 238(2):490-4. PMID: 8681963.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    280. Hidaka Y, Hayashi Y, Fisfalen ME, Suzuki S, Takeda T, Refetoff S, DeGroot LJ. Expression of thyroid peroxidase in EBV-transformed B cell lines using adenovirus. Thyroid. 1996 Feb; 6(1):23-8. PMID: 8777380.
      Citations:    Fields:    Translation:HumansCells
    281. Hayashi Y, Mangoura D, Refetoff S. A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor. Mol Endocrinol. 1996 Jan; 10(1):100-6. PMID: 8838149.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    282. Refetoff S, Sunthornthepvarakul T, Gottschalk ME, Hayashi Y. Resistance to thyrotropin and other abnormalities of the thyrotropin receptor. Recent Prog Horm Res. 1996; 51:97-120; discussion 120-2. PMID: 8701094.
      Citations: 1     Fields:    Translation:HumansCells
    283. Refetoff S, Murata Y, Mori Y, Janssen OE, Takeda K, Hayashi Y. Thyroxine-binding globulin: organization of the gene and variants. Horm Res. 1996; 45(3-5):128-38. PMID: 8964571.
      Citations: 15     Fields:    Translation:HumansCells
    284. Frank SA, Roland DC, Sturis J, Byrne MM, Refetoff S, Polonsky KS, Van Cauter E. Effects of aging on glucose regulation during wakefulness and sleep. Am J Physiol. 1995 Dec; 269(6 Pt 1):E1006-16. PMID: 8572190.
      Citations: 7     Fields:    Translation:Humans
    285. Stein MA, Weiss RE, Refetoff S. Neurocognitive characteristics of individuals with resistance to thyroid hormone: comparisons with individuals with attention-deficit hyperactivity disorder. J Dev Behav Pediatr. 1995 Dec; 16(6):406-11. PMID: 8746549.
      Citations: 13     Fields:    Translation:Humans
    286. Macchia PE, Harrison HH, Scherberg NH, Sunthornthepfvarakul T, Jaeken J, Refetoff S. Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. J Clin Endocrinol Metab. 1995 Dec; 80(12):3744-9. PMID: 8530628.
      Citations: 8     Fields:    Translation:Humans
    287. Janssen OE, Chen B, Refetoff S, Scriba PC, Büttner C. Molecular and structural characterization of the heat-resistant thyroxine-binding globulin-Chicago. J Biol Chem. 1995 Nov 24; 270(47):28234-8. PMID: 7499319.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    288. Hayashi Y, Weiss RE, Sarne DH, Yen PM, Sunthornthepvarakul T, Marcocci C, Chin WW, Refetoff S. Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? J Clin Endocrinol Metab. 1995 Nov; 80(11):3246-56. PMID: 7593433.
      Citations: 15     Fields:    Translation:HumansCells
    289. Denef JF, Labbe O, Hayashi Y, Refetoff S, Vassart G, Parmentier M, Libert F, Eggerickx D. Molecular cloning of an orphan G-protein-coupled receptor that constitutively activates adenylate cyclase. Biochem J. 1995 Aug 01; 309 ( Pt 3):837-43. PMID: 7639700; PMCID: PMC1135708.
      Citations: 50     Fields:    Translation:HumansAnimalsCells
    290. Hershkovitz E, Leiberman E, Refetoff S, Pilpell D, Phillip M. High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel. Isr J Med Sci. 1995 Aug; 31(8):500-2. PMID: 7635701.
      Citations:    Fields:    Translation:Humans
    291. Yen PM, Wilcox EC, Hayashi Y, Refetoff S, Chin WW. Studies on the repression of basal transcription (silencing) by artificial and natural human thyroid hormone receptor-beta mutants. Endocrinology. 1995 Jul; 136(7):2845-51. PMID: 7789309.
      Citations: 5     Fields:    Translation:HumansCells
    292. Bergmann BM, Gilliland MA, Balzano S, Refetoff S, Rechtschaffen A. Sleep deprivation in the rat: XIX. Effects of thyroxine administration. Sleep. 1995 Jun; 18(5):317-24. PMID: 7676163.
      Citations: 3     Fields:    Translation:Animals
    293. Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 1995 01 19; 332(3):155-60. PMID: 7528344.
      Citations: 45     Fields:    Translation:HumansCells
    294. Weiss RE, Sunthornthepvarakul T, Angkeow P, Marcus-Bagley D, Cox N, Alper CA, Refetoff S. Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. J Clin Endocrinol Metab. 1995 Jan; 80(1):116-21. PMID: 7829599.
      Citations: 4     Fields:    Translation:HumansCells
    295. Hayashi Y, DePaoli AM, Burant CF, Refetoff S. Expression of a thyroid hormone-responsive recombinant gene introduced into adult mice livers by replication-defective adenovirus can be regulated by endogenous thyroid hormone receptor. J Biol Chem. 1994 Sep 30; 269(39):23872-5. PMID: 7929032.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    296. Hayashi Y, Sunthornthepvarakul T, Refetoff S. Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone. J Clin Invest. 1994 Aug; 94(2):607-15. PMID: 8040316; PMCID: PMC296137.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    297. Sunthornthepvarakul T, Angkeow P, Weiss RE, Hayashi Y, Refetoff S. An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. Biochem Biophys Res Commun. 1994 Jul 29; 202(2):781-7. PMID: 8048949.
      Citations: 18     Fields:    Translation:Humans
    298. Sturis J, Byrne MM, Blackman JD, Leproult R, Oliner C, Refetoff S, Turek FW, Van Cauter E, Van Reeth O, L'Hermite-Balériaux M. Nocturnal exercise phase delays circadian rhythms of melatonin and thyrotropin secretion in normal men. Am J Physiol. 1994 Jun; 266(6 Pt 1):E964-74. PMID: 8023928.
      Citations: 41     Fields:    Translation:Humans
    299. Sturis J, Byrne MM, Blackman JD, Leproult R, Ofek G, Refetoff S, Turek FW, Van Reeth O, Van Cauter E, L'Hermite-Balériaux M. Demonstration of rapid light-induced advances and delays of the human circadian clock using hormonal phase markers. Am J Physiol. 1994 Jun; 266(6 Pt 1):E953-63. PMID: 8023927.
      Citations: 20     Fields:    Translation:Humans
    300. Weiss RE, Stein MA, Duck SC, Chyna B, Phillips W, O'Brien T, Gutermuth L, Refetoff S. Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1994 Jun; 78(6):1525-8. PMID: 8200958.
      Citations: 8     Fields:    Translation:HumansCells
    301. Weiss RE, Chyna B, Duell PB, Hayashi Y, Sunthornthepvarakul T, Refetoff S. A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. J Clin Endocrinol Metab. 1994 May; 78(5):1253-6. PMID: 8175986.
      Citations: 5     Fields:    Translation:HumansCells
    302. Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD. Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK. Clin Endocrinol (Oxf). 1994 May; 40(5):697-700. PMID: 8013151.
      Citations: 4     Fields:    Translation:Humans
    303. Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD. Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom. J Clin Endocrinol Metab. 1994 Apr; 78(4):990-3. PMID: 8157732.
      Citations: 11     Fields:    Translation:Humans
    304. Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD. Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK. Eur J Endocrinol. 1994 Apr; 130(4):426-8. PMID: 8162176.
      Citations: 1     Fields:    Translation:Humans
    305. Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD. Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K. J Endocrinol Invest. 1994 Apr; 17(4):283-7. PMID: 7930382.
      Citations: 3     Fields:    Translation:Humans
    306. Takeda K, Iyota K, Mori Y, Tamura Y, Suehiro T, Kubo Y, Refetoff S, Hashimoto K. Gene screening in Japanese families with complete deficiency of thyroxine-binding globulin demonstrates that a nucleotide deletion at codon 352 may be a race specific mutation. Clin Endocrinol (Oxf). 1994 Feb; 40(2):221-6. PMID: 8137521.
      Citations: 2     Fields:    Translation:HumansCells
    307. Refetoff S. Resistance to thyroid hormone and its molecular basis. Acta Paediatr Jpn. 1994 Feb; 36(1):1-15. PMID: 8165897.
      Citations: 2     Fields:    Translation:Humans
    308. Refetoff S. How clinical observations of a congenital disease can be translated in terms of molecular biology. Perspect Biol Med. 1994; 37(3):315-26. PMID: 8202340.
      Citations:    Fields:    Translation:Humans
    309. Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD. Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K. Thyroid. 1994; 4(1):135-7. PMID: 8054858.
      Citations: 1     Fields:    Translation:Humans
    310. Refetoff S. Resistance to thyroid hormone. Curr Ther Endocrinol Metab. 1994; 5:117-9. PMID: 7704693.
      Citations:    Fields:    Translation:Humans
    311. Refetoff S, Weiss RE, Wing JR, Sarne D, Chyna B, Hayashi Y. Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine. Thyroid. 1994; 4(3):249-54. PMID: 7833659.
      Citations: 7     Fields:    Translation:HumansCellsCTClinical Trials
    312. Refetoff S. Resistance to thyroid hormone: an historical overview. Thyroid. 1994; 4(3):345-9. PMID: 7833674.
      Citations: 6     Fields:    Translation:Humans
    313. Sunthornthepvarakul T, Hayashi Y, Refetoff S. Polymorphism of a variant human thyrotropin receptor (hTSHR) gene. Thyroid. 1994; 4(2):147-9. PMID: 7919995.
      Citations: 3     Fields:    Translation:HumansCells
    314. Weiss RE, Stein MA, Trommer B, Refetoff S. Attention-deficit hyperactivity disorder and thyroid function. J Pediatr. 1993 Oct; 123(4):539-45. PMID: 8410504.
      Citations: 20     Fields:    Translation:Humans
    315. Refetoff S. Resistance to thyroid hormone. Clin Lab Med. 1993 Sep; 13(3):563-81. PMID: 8222575.
      Citations: 6     Fields:    Translation:HumansCells
    316. Hayashi Y, Mori Y, Janssen OE, Sunthornthepvarakul T, Weiss RE, Takeda K, Weinberg M, Seo H, Bell GI, Refetoff S. Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation. Mol Endocrinol. 1993 Aug; 7(8):1049-60. PMID: 8232304.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    317. Weiss RE, Weinberg M, Refetoff S. Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families. J Clin Invest. 1993 Jun; 91(6):2408-15. PMID: 8514853; PMCID: PMC443299.
      Citations: 29     Fields:    Translation:HumansCells
    318. Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev. 1993 Jun; 14(3):348-99. PMID: 8319599.
      Citations: 159     Fields:    Translation:HumansCells
    319. Weiss RE, Marcocci C, Bruno-Bossio G, Refetoff S. Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab. 1993 Jan; 76(1):257-9. PMID: 8421095.
      Citations: 14     Fields:    Translation:HumansCells
    320. Hayashi Y, Janssen OE, Weiss RE, Murata Y, Seo H, Refetoff S. The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products. J Clin Endocrinol Metab. 1993 Jan; 76(1):64-9. PMID: 8421105.
      Citations: 11     Fields:    Translation:HumansCells
    321. Van Cauter E, Sturis J, Byrne MM, Blackman JD, Scherberg NH, Leproult R, Refetoff S, Van Reeth O. Preliminary studies on the immediate phase-shifting effects of light and exercise on the human circadian clock. J Biol Rhythms. 1993; 8 Suppl:S99-108. PMID: 8274769.
      Citations: 4     Fields:    Translation:Humans
    322. Yen PM, Sugawara A, Refetoff S, Chin WW. New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone. J Clin Invest. 1992 Nov; 90(5):1825-31. PMID: 1430208; PMCID: PMC443242.
      Citations: 16     Fields:    Translation:Animals
    323. Bertenshaw R, Sarne D, Tornari J, Weinberg M, Refetoff S. Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions. Biochim Biophys Acta. 1992 Aug 25; 1139(4):307-10. PMID: 1515456.
      Citations: 3     Fields:    Translation:HumansCells
    324. Janssen OE, Refetoff S. In vitro expression of thyroxine-binding globulin (TBG) variants. Impaired secretion of TBGPRO-227 but not TBGPRO-113. J Biol Chem. 1992 Jul 15; 267(20):13998-4004. PMID: 1378434.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    325. Takeda K, Weiss RE, Refetoff S. Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. J Clin Endocrinol Metab. 1992 Apr; 74(4):712-9. PMID: 1548332.
      Citations: 15     Fields:    Translation:HumansCells
    326. Kambe F, Seo H, Mori Y, Murata Y, Janssen OE, Refetoff S, Matsui N. An additional carbohydrate chain in the variant thyroxine-binding globulin-Gary (TBGAsn-96) impairs its secretion. Mol Endocrinol. 1992 Mar; 6(3):443-9. PMID: 1584218.
      Citations: 4     Fields:    Translation:AnimalsCells
    327. Janssen OE, Bertenshaw R, Takeda K, Weiss R, Refetoff S. Molecular basis of inherited thyroxine-binding globulin defects. Trends Endocrinol Metab. 1992 Mar; 3(2):49-53. PMID: 18407078.
      Citations: 5     Fields:    
    328. Weiss RE, Refetoff S. Thyroid hormone resistance. Annu Rev Med. 1992; 43:363-75. PMID: 1580595.
      Citations: 3     Fields:    Translation:Humans
    329. Takeda K, Sakurai A, DeGroot LJ, Refetoff S. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. J Clin Endocrinol Metab. 1992 Jan; 74(1):49-55. PMID: 1727829.
      Citations: 37     Fields:    Translation:HumansCells
    330. Li P, Janssen OE, Takeda K, Bertenshaw RH, Refetoff S. Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene. Metabolism. 1991 Nov; 40(11):1231-4. PMID: 1943753.
      Citations: 7     Fields:    Translation:HumansCells
    331. Ain KB, Refetoff S, Fein HG, Weintraub BD. Pseudomalabsorption of levothyroxine. JAMA. 1991 Oct 16; 266(15):2118-20. PMID: 1920700.
      Citations: 23     Fields:    Translation:Humans
    332. Lewis GF, Alessi CA, Imperial JG, Refetoff S. Low serum free thyroxine index in ambulating elderly is due to a resetting of the threshold of thyrotropin feedback suppression. J Clin Endocrinol Metab. 1991 Oct; 73(4):843-9. PMID: 1653784.
      Citations: 10     Fields:    Translation:Humans
    333. Van Cauter E, Blackman JD, Roland D, Spire JP, Refetoff S, Polonsky KS. Modulation of glucose regulation and insulin secretion by circadian rhythmicity and sleep. J Clin Invest. 1991 Sep; 88(3):934-42. PMID: 1885778; PMCID: PMC295490.
      Citations: 118     Fields:    Translation:Humans
    334. Imamura S, Mori Y, Murata Y, Yamamori I, Miura Y, Oiso Y, Seo H, Matsui N, Refetoff S. Molecular cloning and primary structure of rat thyroxine-binding globulin. Biochemistry. 1991 Jun 04; 30(22):5406-11. PMID: 1903654.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    335. Pilcher JJ, Bergmann BM, Refetoff S, Fang VS, Rechtschaffen A. Sleep deprivation in the rat: XIII. The effect of hypothyroidism on sleep deprivation symptoms. Sleep. 1991 Jun; 14(3):201-10. PMID: 1896721.
      Citations: 1     Fields:    Translation:Animals
    336. Janssen OE, Takeda K, Refetoff S. Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency. Hum Genet. 1991 Jun; 87(2):119-22. PMID: 1906047.
      Citations: 4     Fields:    Translation:HumansCells
    337. Bertenshaw R, Takeda K, Refetoff S. Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions. Am J Hum Genet. 1991 Apr; 48(4):741-4. PMID: 1901689; PMCID: PMC1682945.
      Citations: 5     Fields:    Translation:HumansCells
    338. Harrison H, Miller K, Ober C, Refetoff S, Dick M, Elias S. Identification of a serum protein polymorphism via two-dimensional electrophoresis. Family and population studies in two genetically isolated groups: North American Hutterites and Australian aborigines. Am J Hum Genet. 1991 Feb; 48(2):362-9. PMID: 1990842; PMCID: PMC1683015.
      Citations:    Fields:    Translation:Humans
    339. Takeda K, Balzano S, Sakurai A, DeGroot LJ, Refetoff S. Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation. J Clin Invest. 1991 Feb; 87(2):496-502. PMID: 1991834; PMCID: PMC296336.
      Citations: 16     Fields:    Translation:HumansCells
    340. Usala SJ, Bercu BB, Refetoff S. Diverse abnormalities of the c-erbA beta thyroid hormone receptor gene in generalized thyroid hormone resistance. Adv Exp Med Biol. 1991; 299:251-8. PMID: 1810141.
      Citations: 3     Fields:    Translation:Humans
    341. Sakurai A, Miyamoto T, Refetoff S, DeGroot LJ. Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone. Mol Endocrinol. 1990 Dec; 4(12):1988-94. PMID: 2082193.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    342. Weiss RE, Balzano S, Scherberg NH, Refetoff S. Neonatal detection of generalized resistance to thyroid hormone. JAMA. 1990 Nov 07; 264(17):2245-50. PMID: 2120481.
      Citations: 5     Fields:    Translation:Humans
    343. Balzano S, Bergmann BM, Gilliland MA, Silva JE, Rechtschaffen A, Refetoff S. Effect of total sleep deprivation on 5'-deiodinase activity of rat brown adipose tissue. Endocrinology. 1990 Aug; 127(2):882-90. PMID: 2373059.
      Citations: 11     Fields:    Translation:Animals
    344. Pilcher JJ, Bergmann BM, Fang VS, Refetoff S, Rechtschaffen A. Sleep deprivation in the rat: XI. The effect of guanethidine-induced sympathetic blockade on the sleep deprivation syndrome. Sleep. 1990 Jun; 13(3):218-31. PMID: 2356394.
      Citations: 3     Fields:    Translation:Animals
    345. Sarne DH, Sobieszczyk S, Ain KB, Refetoff S. Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: responses to thyrotropin-releasing hormone stimulation and short term triiodothyronine suppression. J Clin Endocrinol Metab. 1990 May; 70(5):1305-11. PMID: 2110573.
      Citations: 5     Fields:    Translation:Humans
    346. Waltz MR, Pullman TN, Takeda K, Sobieszczyk P, Refetoff S. Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks. J Endocrinol Invest. 1990 Apr; 13(4):343-9. PMID: 2115061.
      Citations: 8     Fields:    Translation:HumansCells
    347. Mori Y, Takeda K, Charbonneau M, Refetoff S. Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect. J Clin Endocrinol Metab. 1990 Mar; 70(3):804-9. PMID: 2155256.
      Citations: 10     Fields:    Translation:HumansCells
    348. Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, Seino S, Bell GI, Refetoff S, DeGroot LJ. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. Proc Natl Acad Sci U S A. 1989 Nov; 86(22):8977-81. PMID: 2510172; PMCID: PMC298414.
      Citations: 63     Fields:    Translation:HumansCells
    349. Refetoff S. Inherited thyroxine-binding globulin abnormalities in man. Endocr Rev. 1989 Aug; 10(3):275-93. PMID: 2506004.
      Citations: 22     Fields:    Translation:HumansCells
    350. Barsano CP, Angulo M, Burke SF, Refetoff S. Leukocyte alkaline phosphatase in hypothyroidism and hyperthyroidism. Response to initiation of thyroxine replacement therapy. Metabolism. 1989 Apr; 38(4):311-4. PMID: 2725274.
      Citations:    Fields:    Translation:HumansCells
    351. Takeda K, Mori Y, Sobieszczyk S, Seo H, Dick M, Watson F, Flink IL, Seino S, Bell GI, Refetoff S. Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties. J Clin Invest. 1989 Apr; 83(4):1344-8. PMID: 2495303; PMCID: PMC303827.
      Citations: 13     Fields:    Translation:HumansCells
    352. Mori Y, Seino S, Takeda K, Flink IL, Murata Y, Bell GI, Refetoff S. A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule. Mol Endocrinol. 1989 Mar; 3(3):575-9. PMID: 2501669.
      Citations: 14     Fields:    Translation:HumansCells
    353. Bergmann BM, Everson CA, Kushida CA, Fang VS, Leitch CA, Schoeller DA, Refetoff S, Rechtschaffen A. Sleep deprivation in the rat: V. Energy use and mediation. Sleep. 1989 Feb; 12(1):31-41. PMID: 2538910.
      Citations: 37     Fields:    Translation:Animals
    354. Everson CA, Gilliland MA, Kushida CA, Pilcher JJ, Fang VS, Refetoff S, Bergmann BM, Rechtschaffen A. Sleep deprivation in the rat: IX. Recovery. Sleep. 1989 Feb; 12(1):60-7. PMID: 2538911.
      Citations: 25     Fields:    Translation:Animals
    355. Sarne DH, Refetoff S, Nelson JC, Linarelli LG. A new inherited abnormality of thyroxine-binding globulin (TBG-San Diego) with decreased affinity for thyroxine and triiodothyronine. J Clin Endocrinol Metab. 1989 Jan; 68(1):114-9. PMID: 2491856.
      Citations: 7     Fields:    Translation:HumansAnimals
    356. Refetoff S. The syndrome of generalized resistance to thyroid hormone (GRTH). Endocr Res. 1989; 15(4):717-43. PMID: 2699456.
      Citations: 4     Fields:    Translation:Humans
    357. Sarne DH, Refetoff S. Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin. J Clin Endocrinol Metab. 1988 Dec; 67(6):1166-70. PMID: 3142912.
      Citations: 2     Fields:    Translation:HumansCells
    358. Mori Y, Refetoff S, Flink IL, Charbonneau M, Murata Y, Seo H, Morkin E, Dussault JH. Detection of the thyroxine-binding globulin (TBG) gene in six unrelated families with complete TBG deficiency. J Clin Endocrinol Metab. 1988 Oct; 67(4):727-33. PMID: 2901429.
      Citations: 2     Fields:    Translation:HumansCells
    359. Ain KB, Refetoff S. Relationship of oligosaccharide modification to the cause of serum thyroxine-binding globulin excess. J Clin Endocrinol Metab. 1988 May; 66(5):1037-43. PMID: 3129446.
      Citations: 3     Fields:    Translation:HumansCells
    360. Sarne DH, Refetoff S, Rosenfield RL, Farriaux JP. Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration. J Clin Endocrinol Metab. 1988 Apr; 66(4):740-6. PMID: 3346353.
      Citations: 12     Fields:    Translation:Humans
    361. Ain KB, Refetoff S, Sarne DH, Murata Y. Effect of estrogen on the synthesis and secretion of thyroxine-binding globulin by a human hepatoma cell line, Hep G2. Mol Endocrinol. 1988 Apr; 2(4):313-23. PMID: 2837662.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    362. Dussault JH, Refetoff S, Takamatsu J, Letarte J, Laberge C, Charbonneau M. A study on the inheritance of thyroxine-binding globulin (TBG) deficiency from data obtained in 13 families detected by a neonatal screening program. Clin Invest Med. 1988 Feb; 11(1):34-9. PMID: 3130208.
      Citations:    Fields:    Translation:HumansCellsPHPublic Health
    363. Ain KB, Mori Y, Refetoff S. Reduced clearance rate of thyroxine-binding globulin (TBG) with increased sialylation: a mechanism for estrogen-induced elevation of serum TBG concentration. J Clin Endocrinol Metab. 1987 Oct; 65(4):689-96. PMID: 3116030.
      Citations: 45     Fields:    Translation:HumansAnimals
    364. Ceccarelli P, Refetoff S, Murata Y. Resistance to thyroid hormone diagnosed by the reduced response of fibroblasts to the triiodothyronine-induced suppression of fibronectin synthesis. J Clin Endocrinol Metab. 1987 Aug; 65(2):242-6. PMID: 3597704.
      Citations: 4     Fields:    Translation:HumansCells
    365. Takamatsu J, Refetoff S, Charbonneau M, Dussault JH. Two new inherited defects of the thyroxine-binding globulin (TBG) molecule presenting as partial TBG deficiency. J Clin Invest. 1987 Mar; 79(3):833-40. PMID: 3102557; PMCID: PMC424213.
      Citations: 8     Fields:    Translation:HumansCells
    366. Murata Y, Ceccarelli P, Refetoff S, Horwitz AL, Matsui N. Thyroid hormone inhibits fibronectin synthesis by cultured human skin fibroblasts. J Clin Endocrinol Metab. 1987 Feb; 64(2):334-9. PMID: 3793852.
      Citations: 9     Fields:    Translation:HumansCells
    367. Refetoff S, Dwulet FE, Benson MD. Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy. J Clin Endocrinol Metab. 1986 Dec; 63(6):1432-7. PMID: 3097057.
      Citations: 10     Fields:    Translation:HumansCells
    368. Takamatsu J, Refetoff S. Inherited heat-stable variant thyroxine-binding globulin (TBG-Chicago). J Clin Endocrinol Metab. 1986 Nov; 63(5):1140-4. PMID: 3093522.
      Citations: 5     Fields:    Translation:HumansCells
    369. Ichikawa K, DeGroot LJ, Refetoff S, Horwitz AL, Pollak ER. Nuclear thyroid hormone receptors in cultured human fibroblasts: improved method of isolation, partial characterization, and interaction with chromatin. Metabolism. 1986 Sep; 35(9):861-8. PMID: 3018426.
      Citations: 3     Fields:    Translation:HumansCells
    370. Takamatsu J, Ando M, Weinberg M, Refetoff S. Isoelectric focusing variant thyroxine-binding globulin in American blacks: increased heat lability and reduced serum concentration. J Clin Endocrinol Metab. 1986 Jul; 63(1):80-7. PMID: 3086361.
      Citations: 4     Fields:    Translation:HumansCells
    371. Schroeder HR, Johnson PK, Dean CL, Morris DL, Smith D, Refetoff S. Homogeneous apoenzyme reactivation immunoassay for thyroxin-binding globulin in serum. Clin Chem. 1986 May; 32(5):826-30. PMID: 3084130.
      Citations:    Fields:    Translation:Humans
    372. Murata Y, Magner JA, Refetoff S. The role of glycosylation in the molecular conformation and secretion of thyroxine-binding globulin. Endocrinology. 1986 Apr; 118(4):1614-21. PMID: 3081330.
      Citations: 6     Fields:    Translation:HumansCells
    373. Murata Y, Takamatsu J, Refetoff S. Inherited abnormality of thyroxine-binding globulin with no demonstrable thyroxine-binding activity and high serum levels of denatured thyroxine-binding globulin. N Engl J Med. 1986 Mar 13; 314(11):694-9. PMID: 3081807.
      Citations: 7     Fields:    Translation:HumansCells
    374. Sarne DH, Refetoff S. Measurement of thyroxine uptake from serum by cultured human hepatocytes as an index of thyroid status: reduced thyroxine uptake from serum of patients with nonthyroidal illness. J Clin Endocrinol Metab. 1985 Dec; 61(6):1046-52. PMID: 3932446.
      Citations: 4     Fields:    Translation:HumansCells
    375. Van Cauter E, Refetoff S. Multifactorial control of the 24-hour secretory profiles of pituitary hormones. J Endocrinol Invest. 1985 Aug; 8(4):381-91. PMID: 2999212.
      Citations: 18     Fields:    Translation:Humans
    376. Sarne DH, Refetoff S, Murata Y, Dick M, Watson F. Variant thyroxine-binding globulin in serum of Australian aborigines: a comparison with familial TBG deficiency in Caucasians and American blacks. J Endocrinol Invest. 1985 Jun; 8(3):217-24. PMID: 3928733.
      Citations: 3     Fields:    Translation:Humans
    377. Murata Y, Refetoff S, Sarne DH, Dick M, Watson F. Variant thyroxine-binding globulin in serum of Australian aborigines: its physical, chemical and biological properties. J Endocrinol Invest. 1985 Jun; 8(3):225-32. PMID: 3928734.
      Citations: 13     Fields:    Translation:HumansCells
    378. Scherberg NH, Barokas K, Murata Y, Refetoff S. Direct application of radioiodinated aminoacyl tRNA for radiolabeling nascent proteins. Anal Biochem. 1985 Jun; 147(2):503-10. PMID: 3925814.
      Citations:    Fields:    Translation:AnimalsCells
    379. Van Cauter E, Refetoff S. Evidence for two subtypes of Cushing's disease based on the analysis of episodic cortisol secretion. N Engl J Med. 1985 May 23; 312(21):1343-9. PMID: 3873008.
      Citations: 19     Fields:    Translation:Humans
    380. Murata Y, Sarne DH, Horwitz AL, Lecocq R, Aden DP, Knowles BB, Refetoff S. Characterization of thyroxine-binding globulin secreted by a human hepatoma cell line. J Clin Endocrinol Metab. 1985 Mar; 60(3):472-8. PMID: 2982897.
      Citations: 6     Fields:    Translation:HumansCells
    381. Refetoff S, Van Cauter E, Fang VS, Laderman C, Graybeal ML, Landau RL. The effect of dexamethasone on the 24-hour profiles of adrenocorticotropin and cortisol in Cushing's syndrome. J Clin Endocrinol Metab. 1985 Mar; 60(3):527-35. PMID: 2982900.
      Citations: 6     Fields:    Translation:Humans
    382. Refetoff S, Murata Y. X-chromosome-linked inheritance of the variant thyroxine-binding globulin in Australian aborigines. J Clin Endocrinol Metab. 1985 Feb; 60(2):356-60. PMID: 3917459.
      Citations: 6     Fields:    Translation:HumansCells
    383. Van Heuverswyn B, Streydio C, Brocas H, Refetoff S, Dumont J, Vassart G. Thyrotropin controls transcription of the thyroglobulin gene. Proc Natl Acad Sci U S A. 1984 Oct; 81(19):5941-5. PMID: 6592596; PMCID: PMC391834.
      Citations: 24     Fields:    Translation:AnimalsCells
    384. Refetoff S, Murata Y, Vassart G, Chandramouli V, Marshall JS. Radioimmunoassays specific for the tertiary and primary structures of thyroxine-binding globulin (TBG): measurement of denatured TBG in serum. J Clin Endocrinol Metab. 1984 Aug; 59(2):269-77. PMID: 6429183.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    385. Lim VS, Passo C, Murata Y, Ferrari E, Nakamura H, Refetoff S. Reduced triiodothyronine content in liver but not pituitary of the uremic rat model: demonstration of changes compatible with thyroid hormone deficiency in liver only. Endocrinology. 1984 Jan; 114(1):280-6. PMID: 6317348.
      Citations: 6     Fields:    Translation:Animals
    386. Lever EG, Refetoff S, Straus FH, Nguyen M, Kaplan EL. Coexisting thyroid and parathyroid disease--are they related? Surgery. 1983 Dec; 94(6):893-900. PMID: 6648801.
      Citations: 15     Fields:    Translation:Humans
    387. Murata Y, Refetoff S, Horwitz AL, Smith TJ. Hormonal regulation of glycosaminoglycan accumulation in fibroblasts from patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 1983 Dec; 57(6):1233-9. PMID: 6630416.
      Citations: 5     Fields:    Translation:HumansCells
    388. Refetoff S, Lever EG. The value of serum thyroglobulin measurement in clinical practice. JAMA. 1983 Nov 04; 250(17):2352-7. PMID: 6355525.
      Citations: 11     Fields:    Translation:Humans
    389. Sarne D, Barokas K, Scherberg NH, Refetoff S. Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. J Clin Endocrinol Metab. 1983 Sep; 57(3):665-7. PMID: 6192141.
      Citations: 4     Fields:    Translation:HumansCells
    390. Refetoff S, Salazar A, Smith TJ, Scherberg NH. The consequences of inappropriate treatment because of failure to recognize the syndrome of pituitary and peripheral tissue resistance to thyroid hormone. Metabolism. 1983 Aug; 32(8):822-34. PMID: 6865780.
      Citations: 6     Fields:    Translation:Humans
    391. DeGroot LJ, Reilly M, Pinnameneni K, Refetoff S. Retrospective and prospective study of radiation-induced thyroid disease. Am J Med. 1983 May; 74(5):852-62. PMID: 6837608.
      Citations: 8     Fields:    Translation:Humans
    392. Golstein J, Van Cauter E, Spire JP, Refetoff S, Copinschi G, Désir D, Noël P. Effects of "jet lag" on hormonal patterns. IV. Time shifts increase growth hormone release. J Clin Endocrinol Metab. 1983 Mar; 56(3):433-40. PMID: 6822645.
      Citations: 10     Fields:    Translation:Humans
    393. Lever EG, Refetoff S, Scherberg NH, Carr K. The influence of percutaneous fine needle aspiration on serum thyroglobulin. J Clin Endocrinol Metab. 1983 Jan; 56(1):26-9. PMID: 6847872.
      Citations: 6     Fields:    Translation:Humans
    394. Smith TJ, Murata Y, Horwitz AL, Philipson L, Refetoff S. Regulation of glycosaminoglycan synthesis by thyroid hormone in vitro. J Clin Invest. 1982 Nov; 70(5):1066-73. PMID: 6813355; PMCID: PMC370319.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    395. Van Cauter E, L'Hermite M, Refetoff S, Jadot C, Caufriez A, Copinschi G, Robyn C, Désir D. Effects of "jet lag" on hormonal patterns. III. Demonstration of an intrinsic circadian rhythmicity in plasma prolactin. J Clin Endocrinol Metab. 1982 Nov; 55(5):849-57. PMID: 7119086.
      Citations: 7     Fields:    Translation:Humans
    396. Pacini F, Sridama V, Refetoff S. Multiple complications of propylthiouracil treatment: granulocytopenia, eosinophilia, skin reaction and hepatitis with lymphocyte sensitization. J Endocrinol Invest. 1982 Nov-Dec; 5(6):403-7. PMID: 6221046.
      Citations: 9     Fields:    Translation:Humans
    397. Refetoff S. Syndromes of thyroid hormone resistance. Am J Physiol. 1982 Aug; 243(2):E88-98. PMID: 6287848.
      Citations: 17     Fields:    Translation:Humans
    398. Barsano CP, Skosey C, DeGroot LJ, Refetoff S. Serum thyroglobulin in the management of patients with thyroid cancer. Arch Intern Med. 1982 Apr; 142(4):763-7. PMID: 7073416.
      Citations: 9     Fields:    Translation:Humans
    399. Sharp B, Melmed S, Goldberg R, Carlson HE, Refetoff S, Hershman JM. Radioimmunoassay detection of endorphins from long-term culture of human pituitary tumour cells. Acta Endocrinol (Copenh). 1982 Feb; 99(2):174-8. PMID: 6277127.
      Citations: 5     Fields:    Translation:HumansCells
    400. Van Cauter E, Desir D, Refetoff S, Spire JP, Neol P, H'Hermite M, Robyn C, Copinschi G. The relationship between episodic variations of plasma prolactin and REM-non-REM cyclicity is an artifact. J Clin Endocrinol Metab. 1982 Jan; 54(1):70-5. PMID: 7054220.
      Citations: 3     Fields:    Translation:Humans
    401. Scherberg NH, Vassart G, Lecocq R, Dumont JE, Refetoff S. Modulation of thyroglobulin messenger RNA accumulation in the rat thyroid. Endocrinology. 1981 Nov; 109(5):1650-6. PMID: 7297497.
      Citations: 4     Fields:    Translation:AnimalsCells
    402. Van Cauter E, L'Hermite M, Copinschi G, Refetoff S, Desir D, Robyn C. Quantitative analysis of spontaneous variations of plasma prolactin in normal man. Am J Physiol. 1981 Nov; 241(5):E355-63. PMID: 7304739.
      Citations: 11     Fields:    Translation:Humans
    403. Smith TJ, Horwitz AL, Refetoff S. The effect of thyroid hormone on glycosaminoglycan accumulation in human skin fibroblasts. Endocrinology. 1981 Jun; 108(6):2397-9. PMID: 7227312.
      Citations: 3     Fields:    Translation:HumansCells
    404. Pochet R, Brocas H, Vassart G, Toubeau G, Seo H, Refetoff S, Dumont JE, Pasteels JL. Radioautographic localization of prolactin messenger RNA on histological sections by in situ hybridization. Brain Res. 1981 May 04; 211(2):433-8. PMID: 7237132.
      Citations: 5     Fields:    Translation:AnimalsCells
    405. Van Cauter E, Fang VS, Martino E, Jadot C, Spire JP, Refetoff S, Copinschi G, Golstein J, Désir D, Noël P. Effects of "jet lag" on hormonal patterns. I. Procedures, variations in total plasma proteins, and disruption of adrenocorticotropin-cortisol periodicity. J Clin Endocrinol Metab. 1981 Apr; 52(4):628-41. PMID: 6259189.
      Citations: 17     Fields:    Translation:Humans
    406. Van Cauter E, Refetoff S, Tourniaire J, Copinschi G, Fève-Montange M, Désir D. Effects of "jet lag" on hormonal patterns. II. Adaptation of melatonin circadian periodicity. J Clin Endocrinol Metab. 1981 Apr; 52(4):642-9. PMID: 7204537.
      Citations: 12     Fields:    Translation:Humans
    407. Brocas H, van Coevorden A, Seo H, Refetoff S, Vassart G. Dopaminergic control of prolactin mRNA accumulation in the pituitary of the male rat. Mol Cell Endocrinol. 1981 Apr; 22(1):25-30. PMID: 7238998.
      Citations: 3     Fields:    Translation:Animals
    408. Seo H, Wunderlich C, Vassart G, Refetoff S. Growth hormone responses to thyroid hormone in the neonatal rat: resistance and anamnestic response. J Clin Invest. 1981 Feb; 67(2):569-74. PMID: 7462429; PMCID: PMC370601.
      Citations: 3     Fields:    Translation:Animals
    409. Lim VS, Henriquez C, Seo H, Refetoff S, Martino E. Thyroid function in a uremic rat model. Evidence suggesting tissue hypothyroidism. J Clin Invest. 1980 Nov; 66(5):946-54. PMID: 6776147; PMCID: PMC371530.
      Citations: 11     Fields:    Translation:HumansAnimals
    410. Bigazzi M, Ronga R, Olivotti AL, Scarselli G, Refetoff S. Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female. J Endocrinol Invest. 1980 Oct-Dec; 3(4):349-52. PMID: 6162876.
      Citations: 1     Fields:    Translation:HumansCells
    411. Refetoff S, Degroot LJ, Barsano CP. Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone. J Clin Endocrinol Metab. 1980 Jul; 51(1):41-5. PMID: 6769941.
      Citations: 6     Fields:    Translation:Humans
    412. Martino E, Seo H, Lernmark A, Refetoff S. Ontogenetic patterns of thyrotropin-releasing hormone-like material in rat hypothalamus, pancreas, and retina: selective effect of light deprivation. Proc Natl Acad Sci U S A. 1980 Jul; 77(7):4345-8. PMID: 6776526; PMCID: PMC349831.
      Citations: 17     Fields:    Translation:Animals
    413. Brown ME, Refetoff S. Transient elevation of serum thyroid hormone concentration after initiation of replacement therapy in myxedema. Ann Intern Med. 1980 Apr; 92(4):491-5. PMID: 7362153.
      Citations: 3     Fields:    Translation:Humans
    414. Refetoff S, DeGroot LJ, Skosey C. Postirradiation screening for thyroid nodules. JAMA. 1980 Mar 21; 243(11):1131-2. PMID: 7359658.
      Citations: 1     Fields:    Translation:Humans
    415. van Cauter E, Golstein J, Fang VS, Leclercq R, Refetoff S, Copinschi G, Désir D. Circadian and ultradian variations of ACTH and cortisol secretion. Horm Res. 1980; 13(4-5):302-16. PMID: 6268516.
      Citations: 7     Fields:    Translation:HumansAnimals
    416. Seo H, Refetoff S, Scherberg N, Brocas H, Vassart G. Isolation of rat prolactin messenger ribonucleic acid and synthesis of the complementary deoxyribonucleic acid. Endocrinology. 1979 Dec; 105(6):1481-7. PMID: 499085.
      Citations: 1     Fields:    Translation:AnimalsCells
    417. Seo H, Refetoff S, Martino E, Vassart G, Brocas H. The differential stimulatory effect of thyroid hormone on growth hormone synthesis and estrogen on prolactin synthesis due to accumulation of specific messenger ribonucleic acids. Endocrinology. 1979 Apr; 104(4):1083-90. PMID: 436750.
      Citations: 8     Fields:    Translation:AnimalsCells
    418. Seo H, Refetoff S, Vassart G, Brocas H. Comparison of primary and secondary stimulation of male rats by estradiol in terms of prolactin synthesis and mRNA accumulation in the pituitary. Proc Natl Acad Sci U S A. 1979 Feb; 76(2):824-8. PMID: 284404; PMCID: PMC383063.
      Citations: 4     Fields:    Translation:AnimalsCells
    419. Bernal J, Refetoff S, DeGroot LJ. Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral tissue resistance to thyroid hormone action. J Clin Endocrinol Metab. 1978 Dec; 47(6):1266-72. PMID: 233694.
      Citations: 17     Fields:    Translation:HumansCells
    420. Fang VS, Refetoff S. Heterogeneous human prolactin from a giant pituitary tumor in a patient with panhypopituitarism. J Clin Endocrinol Metab. 1978 Oct; 47(4):780-7. PMID: 263324.
      Citations: 6     Fields:    Translation:Humans
    421. Seo H, Brocas H, Vassart G, Refetoff S. Early in vitro induction of rat pituitary GH mRNA by T31. Endocrinology. 1978 Oct; 103(4):1506-9. PMID: 744163.
      Citations: 2     Fields:    Translation:AnimalsCells
    422. Brocas H, Vassart G, Seo H, Refetoff S. Reverse transcription of purified prolactin messenger RNA [proceedings]. Arch Int Physiol Biochim. 1978 Oct; 86(4):906-7. PMID: 84612.
      Citations:    Fields:    
    423. Martino E, Lernmark A, Seo H, Steiner DF, Refetoff S. High concentration of thyrotropin-releasing hormone in pancreatic islets. Proc Natl Acad Sci U S A. 1978 Sep; 75(9):4265-7. PMID: 100783; PMCID: PMC336093.
      Citations: 20     Fields:    Translation:Animals
    424. Martino E, Seo H, Refetoff S. Loss of bioreactivity and preservation of immunoreactivity of iodothyrotropin-releasing hormone. Endocrinology. 1978 Jul; 103(1):246-53. PMID: 105887.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    425. DeGroot LJ, Refetoff S, Bernal J, Rue PA, Coleoni AH. Nuclear receptors for thyroid hormone. J Endocrinol Invest. 1978 Jan; 1(1):79-88. PMID: 226575.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    426. DeGroot LJ, Hoye K, Refetoff S, Van Herle AJ, Asteris GT, Rochman H. Serum albumin and antibodies in the diagnosis of thyroid cancer. J Clin Endocrinol Metab. 1977 Dec; 45(6):1220-3. PMID: 591616.
      Citations: 4     Fields:    Translation:HumansCells
    427. DeGroot LJ, Coleoni AH, Rue PA, Seo H, Martino E, Refetoff S. Reduced nuclear triiodothyronine receptors in starvation-induced hypothyroidism. Biochem Biophys Res Commun. 1977 Nov 07; 79(1):173-8. PMID: 200237.
      Citations: 9     Fields:    Translation:AnimalsCells
    428. Barbato AL, Bekerman C, Refetoff S. Transient iodide trapping defect in Hashimoto's thyroiditis detected by the combination of radionuclide and fluorescent scanning. Br J Radiol. 1977 Nov; 50(599):827-30. PMID: 579322.
      Citations:    Fields:    Translation:Humans
    429. Lim VS, Fang VS, Katz AI, Refetoff S. Thyroid dysfunction in chronic renal failure. A study of the pituitary-thyroid axis and peripheral turnover kinetics of thyroxine and triiodothyronine. J Clin Invest. 1977 Sep; 60(3):522-34. PMID: 408377; PMCID: PMC372397.
      Citations: 37     Fields:    Translation:HumansCTClinical Trials
    430. Seo H, Vassart G, Brocas H, Refetoff S. Triiodothyronine stimulates specifically growth hormone mRNA in rat pituitary tumor cells. Proc Natl Acad Sci U S A. 1977 May; 74(5):2054-8. PMID: 266726; PMCID: PMC431072.
      Citations: 27     Fields:    Translation:Cells
    431. Brocas H, Seo H, Refetoff S, Vassart G, Dumont JE. Translation of prolactin and growth hormone messenger RNA from rat pituitary tumour cells. Stimulation of GH mRNA activity by triiodothyronine [proceedings]. Arch Int Physiol Biochim. 1977 Apr; 85(2):387. PMID: 71098.
      Citations:    Fields:    Translation:Cells
    432. Scherberg N, Refetoff S. Iodination-deiodination. A radiochemical method for detection of structure and changes in structure in RNA. Biochim Biophys Acta. 1977 Mar 18; 475(2):337-51. PMID: 14687.
      Citations: 1     Fields:    Translation:AnimalsCells
    433. Bernal J, Refetoff S. The action of thyroid hormone. Clin Endocrinol (Oxf). 1977 Mar; 6(3):227-49. PMID: 322895.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    434. Horwitz DL, Refetoff S. Graves' disease associated with familial deficiency of thyroxine-binding globulin. J Clin Endocrinol Metab. 1977 Feb; 44(2):242-7. PMID: 402376.
      Citations: 9     Fields:    Translation:Humans
    435. Seo H, Refetoff S, Fang VS. Induction of hypothyroidism and hypoprolactinemia by growth hormone producing rat pituitary tumors. Endocrinology. 1977 Jan; 100(1):216-26. PMID: 401484.
      Citations: 5     Fields:    Translation:AnimalsCells
    436. Niepomniszcze H, Medeiros-Neto GA, Refetoff S, Degroot LJ, Fang VS. Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase. Clin Endocrinol (Oxf). 1977 Jan; 6(1):27-39. PMID: 844215.
      Citations: 4     Fields:    Translation:Humans
    437. Refetoff S, Demeester-Mirkine N, Ermans AM, DeGroot LJ. Rapid control of thyrotoxicosis with combined 131I, anthithyroid drugs and KI therapy. J Nucl Med Allied Sci. 1977 Jan-Jun; 21(1-2):23-9. PMID: 578811.
      Citations: 4     Fields:    Translation:Humans
    438. Brocas H, Seo H, Refetoff S, Vassart G. Simultaneous translation of growth hormone and prolactin messenger RNA from rat pituitary tumor cells. FEBS Lett. 1976 Nov; 70(1):175-9. PMID: 992060.
      Citations: 2     Fields:    Translation:AnimalsCells
    439. Siegler M, Refetoff S. Pretibial myxedema--a reversible cause of foot drop due to entrapment of the peroneal nerve. N Engl J Med. 1976 Jun 17; 294(25):1383-4. PMID: 1264177.
      Citations: 4     Fields:    Translation:Humans
    440. Amino N, Hagen SR, Yamada N, Refetoff S. Measurement of circulating thyroid microsomal antibodies by the tanned red cell haemagglutination technique: its usefulness in the diagnosis of autoimmune thyroid diseases. Clin Endocrinol (Oxf). 1976 Mar; 5(2):115-25. PMID: 773572.
      Citations: 46     Fields:    Translation:HumansCells
    441. Refetoff S, Fang VS, Marshall JS, Robin NI. Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess. J Clin Invest. 1976 Feb; 57(2):485-95. PMID: 56342; PMCID: PMC436674.
      Citations: 5     Fields:    Translation:HumansCells
    442. Rochman H, deGroot LJ, Rieger CH, Varnavides LA, Refetoff S, Joung JI, Hoye K. Carcinoembryonic antigen and humoral antibody response in patients with thyroid carcinoma. Cancer Res. 1975 Oct; 35(10):2689-92. PMID: 1157044.
      Citations: 6     Fields:    Translation:HumansCells
    443. Vassart G, Refetoff S, Brocas H, Dinsart C, Dumont JE. Translation of thyroglobulin 33S messenger RNA as a means of determining thyroglobulin quaternary structure. Proc Natl Acad Sci U S A. 1975 Oct; 72(10):3839-43. PMID: 1060067; PMCID: PMC433091.
      Citations: 8     Fields:    Translation:AnimalsCells
    444. Refetoff S. Thyroid hormone therapy. Med Clin North Am. 1975 Sep; 59(5):1147-62. PMID: 1099361.
      Citations: 1     Fields:    Translation:Humans
    445. Refetoff S, Fang VS, Marshall JS. Studies on human thyroxine-binding globulin (TBG). IX. Some physical, chemical, and biological properties of radioiodinated TBG and partially desialylated TBG. J Clin Invest. 1975 Jul; 56(1):177-87. PMID: 806610; PMCID: PMC436568.
      Citations: 7     Fields:    Translation:HumansAnimalsCellsPHPublic Health
    446. Refetoff S, Harrison J, Karanfilski BT, Kaplan EL, De Groot LJ, Bekerman C. Continuing occurrence of thyroid carcinoma after irradiation to the neck in infancy and childhood. N Engl J Med. 1975 Jan 23; 292(4):171-5. PMID: 122783.
      Citations: 20     Fields:    Translation:HumansCells
    447. Niepomniszcze H, Rosenbloom AL, Degroot LJ, Shimaoka K, Refetoff S, Yamamoto K. Differentiation of two abnormalities in thyroid peroxidase causing organification defect and goitrous hypothyroidism. Metabolism. 1975 Jan; 24(1):57-67. PMID: 162974.
      Citations: 3     Fields:    Translation:HumansCells
    448. Scherberg NH, Refetoff S. Radioiodine labeling of ribopolymers for special applications in biology. Methods Cell Biol. 1975; 10:343-59. PMID: 1186506.
      Citations: 3     Fields:    Translation:Cells
    449. Degroot LJ, Refetoff S, Strausser J, Barsano C. Nuclear triiodothyronine-binding protein: partial characterization and binding to chromatin. Proc Natl Acad Sci U S A. 1974 Oct; 71(10):4042-6. PMID: 4530284; PMCID: PMC434324.
      Citations: 12     Fields:    Translation:AnimalsCells
    450. Fang VS, Refetoff S, Rosenfield RL. Hypogonadism induced by a transplantable, prolactin-producing tumor in male rats: hormonal and morphological studies. Endocrinology. 1974 Oct; 95(4):991-8. PMID: 4413745.
      Citations: 7     Fields:    Translation:AnimalsCells
    451. Fang VS, Refetoff S. Radioimmunoassay for serum triiodothyronine: evaluation of simple techniques to control interference from binding proteins. Clin Chem. 1974 Sep; 20(9):1150-4. PMID: 4213341.
      Citations: 4     Fields:    Translation:HumansCells
    452. Refetoff S, Ochi Y, Selenkow HA, Rosenfield RL. Neonatal hypothyroidism and goiter in one infant of each of two sets of twins due to maternal therapy with antithyroid drugs. J Pediatr. 1974 Aug; 85(2):240-4. PMID: 4135477.
      Citations: 1     Fields:    Translation:Humans
    453. Hoffer PB, Lathrop K, Bekerman C, Fang VS, Refetoff S. Use of 131-I-CEA antibody as a tumor scanning agent. J Nucl Med. 1974 May; 15(5):323-7. PMID: 4132666.
      Citations: 5     Fields:    Translation:Animals
    454. Scherberg NH, Refetoff S. The radioiodination of ribopolymers for use in hybridizational and molecular analyses. J Biol Chem. 1974 Apr 10; 249(7):2143-50. PMID: 4594497.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    455. Scherberg NH, Refetoff S. The preparation of carrier-free iodine isotope-substituted cytosine nucleotides. Biochim Biophys Acta. 1974 Apr 10; 340(4):446-51. PMID: 4598736.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    456. Refetoff S, Fang VS, Rapoport B, Friesen HG. Interrelationships in the regulation of TSH and prolactin secretion in man: effects of L-dopa, TRH and thyroid hormone in various combinations. J Clin Endocrinol Metab. 1974 Mar; 38(3):450-7. PMID: 4205563.
      Citations: 14     Fields:    Translation:Humans
    457. Fang VS, Refetoff S. Effects of 7, 12-dimethylbenz(a)anthracene and estrogen on the transplantation and growth of a rat pituitary tumor. Cancer Res. 1974 Jan; 34(1):225-9. PMID: 4809460.
      Citations:    Fields:    Translation:Animals
    458. Rosenfield RL, Fang VS, Dupon C, Kim MH, Refetoff S. The effects of low doses of depot estradiol and testosterone in teenagers with ovarian failure and Turner's syndrome. J Clin Endocrinol Metab. 1973 Oct; 37(4):574-80. PMID: 4742538.
      Citations: 2     Fields:    Translation:HumansCells
    459. Wall AJ, Levinson JD, Refetoff S. Hyperthyroidism and adult celiac disease. Am J Gastroenterol. 1973 Oct; 60(4):387-93. PMID: 4758296.
      Citations: 3     Fields:    Translation:Humans
    460. Gottesman RL, Refetoff S. Diagnosis and management of thyroid diseases in pregnancy. J Reprod Med. 1973 Jul; 11(1):19-22. PMID: 4717609.
      Citations:    Fields:    Translation:Humans
    461. Scherberg NH, Refetoff S. Hybridization of RNA labelled with 125 I to high specific activity. Nat New Biol. 1973 Apr 04; 242(118):142-5. PMID: 4512652.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    462. Porter BA, Refetoff S, Rosenfeld RL, De Groat LJ, Lang US, Stark O. Abnormal thyroxine metabolism in hyposomatotrophic dwarfism and inhibition of responsiveness to TRH during GH therapy. Pediatrics. 1973 Apr; 51(4):668-74. PMID: 4633266.
      Citations: 10     Fields:    Translation:Humans
    463. Niepomniszcze H, Castells S, DeGroot LJ, Refetoff S, Kim OS, Rapoport B, Hati R. Peroxidase defect in congenital goiter with complete organification block. J Clin Endocrinol Metab. 1973 Feb; 36(2):347-57. PMID: 4345693.
      Citations: 4     Fields:    Translation:HumansCells
    464. Rapoport B, Refetoff S, Fang VS, Friesen HG. Suppression of serum thyrotropin (TSH) by L-dopa in chronic hypothyroidism: interrelationships in the regulation of TSH and prolactin secretion. J Clin Endocrinol Metab. 1973 Feb; 36(2):256-62. PMID: 4630270.
      Citations: 6     Fields:    Translation:Humans
    465. Refetoff S, Block MB, Ehrlich EN, Friesen HG. Chiari-Frommel syndrome in a patient with primary adrenocortical insufficiency. N Engl J Med. 1972 Dec 28; 287(26):1326-8. PMID: 4344040.
      Citations: 1     Fields:    Translation:Humans
    466. Refetoff S, Matalon R, Bigazzi M. Metabolism of L-thyroxine (T4) and L-triiodothyronine (T3) by human fibroblasts in tissue culture: evidence for cellular binding proteins and conversion of T4 to T3. Endocrinology. 1972 Oct; 91(4):934-47. PMID: 5065814.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    467. Refetoff S, DeGroot LJ, Benard B, DeWind LT. Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism. 1972 Aug; 21(8):723-56. PMID: 5047916.
      Citations: 22     Fields:    Translation:HumansCells
    468. Refetoff S, Robin NI, Alper CA. Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus. J Clin Invest. 1972 Apr; 51(4):848-67. PMID: 4111366; PMCID: PMC302199.
      Citations: 19     Fields:    Translation:HumansCells
    469. Robin NI, Selenkow HA, Fang VS, Refetoff S, Piasecki G, Rauschecker H, Jackson BT. Bidirectional thyroxine exchange in pregnant sheep. Hormones. 1972; 3(4):235-49. PMID: 4653182.
      Citations:    Fields:    Translation:AnimalsCells
    470. Refetoff S, Hagen SR, Selenkow HA. Estimation of the T 4 binding capacity of serum TBG and TBPA by a single T 4 load ion exchange resin method. J Nucl Med. 1972 Jan; 13(1):2-12. PMID: 4621446.
      Citations: 15     Fields:    Translation:Humans
    471. Refetoff S, Landau RL. Alterations in thyroxine (T 4 ) and tri-iodothyronine (T 3 ) binding to serum proteins by heat. J Lab Clin Med. 1971 Dec; 78(6):999-1000. PMID: 5002270.
      Citations:    Fields:    Translation:HumansCells
    472. Robin NI, Refetoff S, Selenkow HA. The computer in the diagnosis of thyroid disease. J Nucl Med. 1971 Sep; 12(9):620-4. PMID: 4999075.
      Citations:    Fields:    Translation:HumansCTClinical Trials
    473. De Costre P, Buhler U, DeGroot LJ, Refetoff S. Diurnal rhythm in total serum thyroxine levels. Metabolism. 1971 Aug; 20(8):782-91. PMID: 4105484.
      Citations: 5     Fields:    Translation:Humans
    474. Alper CA, Robin NI, Refetoff S. Genetic polymorphism in rhesus C3 and Gc globulin. J Immunol. 1971 Jul; 107(1):96-8. PMID: 4103922.
      Citations: 2     Fields:    Translation:HumansAnimals
    475. Robin NI, Hagen SR, Refetoff S, Selenkow HA, Collaço F. Serum tests for measurement of thyroid function. Hormones. 1971; 2(5):266-79. PMID: 5006665.
      Citations: 16     Fields:    Translation:Humans
    476. Robin NI, Refetoff S, Gleason RE, Selenkow HA. Thyroid hormone relationships between maternal and fetal circulations in human pregnancy at term: a study in patients with normal and abnormal thyroid function. Am J Obstet Gynecol. 1970 Dec 15; 108(8):1269-76. PMID: 5482861.
      Citations:    Fields:    Translation:HumansCells
    477. Sterling K, Refetoff S, Selenkow HA. T3 thyrotoxicosis. Thyrotoxicosis due to elevated serum triiodothyronine levels. JAMA. 1970 Jul 27; 213(4):571-5. PMID: 4193903.
      Citations: 20     Fields:    Translation:Humans
    478. Refetoff S, Robin NI, Fang VS. Parameters of thyroid function in serum of 16 selected vertebrate species: a study of PBI, serum T4, free T4, and the pattern of T4 and T3 binding to serum proteins. Endocrinology. 1970 Apr; 86(4):793-805. PMID: 4189857.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    479. Refetoff S, Sönksen PH. Disappearance rate of endogenous and exogenous human growth hormone in man. J Clin Endocrinol Metab. 1970 Mar; 30(3):386-92. PMID: 5412545.
      Citations: 7     Fields:    Translation:Humans
    480. Stanbury JB, Fierro-Benitez R, Estrella E, Milutinovic PS, Tellez MU, Refetoff S. Endemic goiter with hypothyroidism in three generations. J Clin Endocrinol Metab. 1969 Dec; 29(12):1596-600. PMID: 5347689.
      Citations: 2     Fields:    Translation:HumansCells
    481. Robin NI, Refetoff S, Fang V, Selenkow HA. Parameters of thyroid function in maternal and cord serum at term pregnancy. J Clin Endocrinol Metab. 1969 Sep; 29(9):1276-80. PMID: 4980117.
      Citations: 3     Fields:    Translation:HumansCells
    482. Alper CA, Robin NI, Refetoff S. Genetic polymorphism of rhesus thyroxine-binding prealbumin: evidence for tetrameric structure in primates. Proc Natl Acad Sci U S A. 1969 Jul; 63(3):775-81. PMID: 4981529; PMCID: PMC223519.
      Citations: 3     Fields:    Translation:Animals
    483. Saxena BN, Refetoff S, Emerson K, Selenkow HA. A rapid radioimmunoassay for human placental lactogen. Application to normal and pathologic pregnancies. Am J Obstet Gynecol. 1968 Aug 01; 101(7):874-85. PMID: 4298214.
      Citations: 4     Fields:    Translation:Humans
    484. Refetoff S, Selenkow HA. Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred. N Engl J Med. 1968 May 16; 278(20):1081-7. PMID: 4171474.
      Citations: 21     Fields:    Translation:HumansCells
    485. Harrison MR, Fierro-Benitez R, Ramirez I, Refetoff S, Stanbury JB. Immunoreactive growth hormone in endemic cretins in Ecuador. Lancet. 1968 May 04; 1(7549):937-40. PMID: 4171581.
      Citations: 1     Fields:    Translation:Humans
    486. Selenkow HA, Refetoff S. Common tests of thyroid function in serum. JAMA. 1967 Oct 09; 202(2):135-6. PMID: 4167374.
      Citations: 1     Fields:    Translation:Humans
    487. Selenkow HA, Wool MS, Refetoff S. Radioimmunoassay of anterior pituitary hormones. Radiol Clin North Am. 1967 Aug; 5(2):317-31. PMID: 4317743.
      Citations:    Fields:    Translation:Humans
    488. Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967 Feb; 27(2):279-94. PMID: 4163616.
      Citations: 129     Fields:    Translation:Humans
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