Samuel Refetoff

University of Chicago, Chicago, IL 
Genetics, Human Development, Neuroscience Biology
"Samuel Refetoff"
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Watanabe Y, Bruellman RJ, Ebrhim RS, et al. (2018) Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid : Official Journal of the American Thyroid Association
Cangul H, Liao XH, Schoenmakers E, et al. (2018) Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. Jci Insight. 3
Pappa T, Refetoff S. (2018) Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ). Methods in Molecular Biology (Clifton, N.J.). 1801: 225-240
Ziros PG, Habeos I, Chartoumpekis DV, et al. (2018) The NFE2-related transcription factor 2 (Nrf2) coordinates antioxidant defense with thyroglobulin production and iodination in the thyroid gland. Thyroid : Official Journal of the American Thyroid Association
Mimoto MS, Karaca A, Scherberg N, et al. (2018) Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid : Official Journal of the American Thyroid Association
Hönes GS, Rakov H, Logan J, et al. (2017) Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo. Proceedings of the National Academy of Sciences of the United States of America
Kang HS, Kumar D, Liao G, et al. (2017) GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation. The Journal of Clinical Investigation
Pappa T, Anselmo J, Mamanasiri S, et al. (2017) Prenatal diagnosis of resistance to thyroid hormone and its clinical implications. The Journal of Clinical Endocrinology and Metabolism
Pappa T, Moeller LC, Edidin DV, et al. (2017) A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families. European Thyroid Journal. 6: 138-142
Leitch VD, Di Cosmo C, Liao XH, et al. (2017) An essential physiological role for MCT8 in bone in male mice. Endocrinology
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