Samuel Refetoff

A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene

Alexandra M. Dumitrescu, Xiao-Hui Liao, Thomas B. Best et al. · The American Journal of Human Genetics · 2004 · 705 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Familial Syndrome Combining Deaf-Mutism, Stippled Epiphyses, Goiter and Abnormally High PBI: Possible Target Organ Refractoriness to Thyroid Hormone¹²

Samuel Refetoff, Loren T. DeWind, Leslie J. DeGroot · The Journal of Clinical Endocrinology & Metabolism · 1967 · 575 citations

Medicine, Endocrinology, Nuclear Medicine +17

Modulation of glucose regulation and insulin secretion by circadian rhythmicity and sleep.

Eve Van Cauter, John D Blackman, Dominique Roland et al. · Journal of Clinical Investigation · 1991 · 444 citations · Full text

Life Sciences, Endocrinology, Physiology +17

Targeted Expression of BRAFV600E in Thyroid Cells of Transgenic Mice Results in Papillary Thyroid Cancers that Undergo Dedifferentiation

Jeffrey A. Knauf, Xiaolan Ma, Eric P. Smith et al. · Cancer Research · 2005 · 417 citations

Medicine, Genetics, Oncology +16

Mutations in SECISBP2 result in abnormal thyroid hormone metabolism

Alexandra M. Dumitrescu, Xiao-Hui Liao, Mohamed S Y Abdullah et al. · Nature Genetics · 2005 · 408 citations

Life Sciences, Genetics, Molecular Genetics +12