SamuelRefetoffMD
Endocrinology • Chicago, ILProfessor of Medicine and Pediatrics, University of Chicago Medicine
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Office
5841 S. MARYLAND AVE.
M/C 3090
Chicago, IL 60637Phone+1 773-702-6939Fax+1 773-702-6940
Education & Training
Brigham and Women's HospitalResidency, Internal Medicine, 1966 - 1968
Lahey ClinicResidency, Internal Medicine, 1965 - 1966
Good Samaritan HospitalInternship, Internal Medicine, 1964 - 1965
McGill University Faculty of MedicineClass of 1963
Certifications & Licensure
IL State Medical License 1969 - 2026
CA State Medical License 1964 - 2025
Awards, Honors, & Recognition
- CMS Meaningful Use Stage 1 Certification EpicCare Ambulatory EMR, Epic Systems Corporation, 2012-2013
- Elected Member The American Society for Clinical Investigation, 1973
- Super Doctor SuperDoctors.com
Clinical Trials
- TSH Receptor Mutations Among a Consanguineous Community Start of enrollment: 2005 Dec 01
Publications & Presentations
PubMed
- Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.Roy E Weiss, Joana R N Lemos, Alexandra M Dumitrescu, Mohammad S Islam, Khemraj Hirani
Thyroid. 2024-11-01 - 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.Luca Persani, Patrice Rodien, Carla Moran, W Edward Visser, Stefan Groeneweg
European Thyroid Journal. 2024-08-01 - 2 citationsSTR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.Helmut Grasberger, Alexandra M Dumitrescu, Xiao-Hui Liao, Elliott G Swanson, Roy E Weiss
Nature Genetics. 2024-05-01
Journal Articles
- Homozygous Loss-of-Function Mutations in SLC26A7 Cause Goitrous Congenital HypothyroidismManoocher Soleimani, Samuel Refetoff, The Journal of Clinical Investigation
Other
- GLIS3 Is Indispensable for TSH/TSHR-dependent Thyroid Hormone Biosynthesis and Follicular Cell ProliferationSamuel Refetoff, MD, The Journal of Clinical Investigation
https://www.doximity.com/articles/8de05f02-9d30-435f-83d2-b93b5e8f058f
UpToDate, Wolters Kluwer Health - 2012-08-03 - GLIS3 Is Indispensable for TSH/TSHR-dependent Thyroid Hormone Biosynthesis and Follicular Cell ProliferationSamuel Refetoff, MD, The Journal of Clinical Investigation
https://www.doximity.com/articles/8de05f02-9d30-435f-83d2-b93b5e8f058f
UpToDate, Wolters Kluwer Health - 2013-01-24 - GLIS3 Is Indispensable for TSH/TSHR-dependent Thyroid Hormone Biosynthesis and Follicular Cell ProliferationSamuel Refetoff, MD, The Journal of Clinical Investigation
https://www.doximity.com/articles/8de05f02-9d30-435f-83d2-b93b5e8f058f
UpToDate, Wolters Kluwer Health - 2012-05-30
Press Mentions
RARE Drug Development Symposium: Emerging Models & PartnershipsJune 3rd, 2022- Scientists Gain Ground on Rare Congenital Neurological DisorderMay 20th, 2022
Leslie DeGroot, Thyroid Specialist at University of Chicago, DiesNovember 4th, 2018- Join now to see all
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