Samuel Refetoff

Affiliations: 
University of Chicago, Chicago, IL 
Area:
Genetics, Human Development, Neuroscience Biology
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"Samuel Refetoff"
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Publications

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Refetoff S, Pappa T, Williams MK, et al. (2020) Prenatal treatment of thyroid hormone cell membrane transport defect caused by MCT8 gene mutation. Thyroid : Official Journal of the American Thyroid Association
Franca MM, German A, Gustavo FW, et al. (2020) Human type 1 Iodothyronine deiodinase (DIO1) mutations cause abnormal thyroid hormone metabolism. Thyroid : Official Journal of the American Thyroid Association
Ziros PG, Renaud CO, Chartoumpekis DV, et al. (2020) Mice hypomorphic for Keap1, a negative regulator of the Nrf2 antioxidant response, show age-dependent diffuse goiter with elevated thyrotropin levels. Thyroid : Official Journal of the American Thyroid Association
Ebrhim RS, Bruellman RJ, Watanabe Y, et al. (2020) Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHβ. Hormone Research in Paediatrics. 1-5
Franca MM, Levine RL, Pappa T, et al. (2020) Non-autoimmune hyperthyroidism caused by a somatic mosaic GNAS gene mutation involving part of the thyroid gland. Thyroid : Official Journal of the American Thyroid Association
França MM, Liao XH, Fernandes GW, et al. (2020) OR01-01 Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism Journal of the Endocrine Society. 4
Chaves CM, Bruinstroop E, Refetoff S, et al. (2020) OR01-06 Resistance to Thyroid Hormone Beta Is Associated with an Increase in Hepatic Fat Measured by Transient Elastography (Fibroscan®) with Controlled Attenuation Parameter (CAP) Journal of the Endocrine Society. 4
Korwutthikulrangsri M, Dosiou C, Dumitrescu AM, et al. (2019) A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance. European Thyroid Journal. 8: 293-297
Bruellman RJ, Watanabe Y, Ebrhim RS, et al. (2019) Insertion of an Alu element in the thyroglobulin gene as a novel cause of congenital hypothyroidism. Thyroid : Official Journal of the American Thyroid Association
Bruellman RJ, Watanabe Y, Ebrhim RS, et al. (2019) Increased prevalence of TG and TPO mutations in Sudanese children with congenital hypothyroidism. The Journal of Clinical Endocrinology and Metabolism
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