Refetoff, Samuel

Classification and Proposed Nomenclature for Inherited Defects of Thyroid Hormone Action, Cell Transport, and Metabolism*

Refetoff, S., Bassett, J. H. D., Beck-Peccoz, P., Bernal, J., Brent, G., Chatterjee, K., De Groot, L. J., Dumitrescu, A. M., Jameson, J. L., Kopp, P. A., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 79

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

Cangul, H., Liao, X.-H., Schoenmakers, E., Kero, J., Barone, S., Srichomkwun, P., Iwayama, H., Serra, E. G., Saglam, H., Eren, E., et al. (2018) · JCI Insight

Thyroid Disorders and TreatmentsChemical Analysis and Environmental Impact

Cited by 69

Quantitative analysis of spontaneous variations of plasma prolactin in normal man

Van Cauter, E., L'Hermite, M., Copinschi, G., Refetoff, S., Desir, D., & Robyn, C. (1981) · American Journal of Physiology-Endocrinology and Metabolism

Growth Hormone and Insulin-like Growth FactorsHypothalamic control of reproductive hormones

Cited by 67

Transplantable human thyroid organoids generated from embryonic stem cells to rescue hypothyroidism

Romitti, M., Tourneur, A., de Faria da Fonseca, B., Doumont, G., Gillotay, P., Liao, X.-H., Eski, S. E., Van Simaeys, G., Chomette, L., Lasolle, H., et al. (2022) · Nature Communications

Pluripotent Stem Cells ResearchThyroid Disorders and Treatments

Cited by 64

A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia

Zhou, J., Waskowicz, L. R., Lim, A., Liao, X.-H., Lian, B., Masamune, H., Refetoff, S., Tran, B., Koeberl, D. D., & Yen, P. M. (2019) · Thyroid®

Glycogen Storage Diseases and MyoclonusMetabolism and Genetic Disorders

Cited by 60

Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta

Chaves, C., Bruinstroop, E., Refetoff, S., Yen, P. M., & Anselmo, J. (2021) · Thyroid®

Liver Disease Diagnosis and TreatmentThyroid Disorders and Treatments

Cited by 55

Low Serum Free Thyroxine Index in Ambulating Elderly Is due to a Resetting of the Threshold of Thyrotropin Feedback Suppression*

LEWIS, G. F., ALESSI, C. A., IMPERIAL, J. G., & REFETOFF, S. (1991) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGrowth Hormone and Insulin-like Growth Factors

Cited by 51

The effect of dexamethasone on the 24-hour profiles of adrenocorticotropin and cortisol in Cushing's syndrome.

REFETOFF, S., VAN CAUTER, E., FANG, V. S., LADERMAN, C., GRAYBEAL, M. L., & LANDAU, R. L. (1985) · The Journal of Clinical Endocrinology & Metabolism

Pituitary Gland Disorders and TreatmentsAdrenal Hormones and Disorders

Cited by 46

The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency

Ferrara, A. M., Liao, X.-H., Ye, H., Weiss, R. E., Dumitrescu, A. M., & Refetoff, S. (2015) · Endocrinology

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

Cited by 32

Effects of maternal levels of thyroid hormone (TH) on the hypothalamus-pituitary-thyroid set point: studies in TH receptor β knockout mice

Alonso, M., Goodwin, C., Liao, X., Page, D., Refetoff, S., & Weiss, R. E. (2007) · Endocrinology

Thyroid Disorders and TreatmentsBirth, Development, and Health

Cited by 31

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

Srichomkwun, P., Takamatsu, J., University of Washington Center for Mendelian Genomics, Nickerson, D. A., Bamshad, M. J., Chong, J. X., & Refetoff, S. (2017) · Thyroid

Thyroid Disorders and TreatmentsThyroid Cancer Diagnosis and Treatment

Cited by 25

A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications

Pappa, T., Johannesen, J., Scherberg, N., Torrent, M., Dumitrescu, A., & Refetoff, S. (2015) · Thyroid

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 19