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SAMUEL REFETOFF, MD
MD
Endocrinology, Diabetes & Metabolism Physician
NPI: 1518020031IndividualAccepts Medicare
Specialties, Licenses & Credentials
Endocrinology, Diabetes & Metabolism PhysicianPrimary
Internal Medicine — Endocrinology, Diabetes & Metabolism
Code: 207RE0101X
Education
OTHER
Class of 1963
Research & Publications (20)
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
PMID 17574009·Best Pract Res Clin Endocrinol Metab·2007
6-review
Resistance to thyroid hormone with and without receptor gene mutations.
PMID 12707628·Ann Endocrinol (Paris)·2003
6-review
The syndrome of resistance to thyroid stimulating hormone.
PMID 14604307·J Chin Med Assoc·2003
6-review
Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine.
PMID 19147674·Endocrinology·2009
7-preclinical
Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
PMID 19240155·J Clin Endocrinol Metab·2009
7-preclinical
A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant.
PMID 19191749·Thyroid·2009
5-case
A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.
PMID 19497976·Endocrinology·2009
7-preclinical
In vivo interaction of steroid receptor coactivator (SRC)-1 and the activation function-2 domain of the thyroid hormone receptor (TR) beta in TRbeta E457A knock-in and SRC-1 knockout mice.
PMID 19406944·Endocrinology·2009
7-preclinical
Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
PMID 19602558·J Clin Endocrinol Metab·2009
5-case
Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
PMID 19265499·Thyroid·2009
8-other
Comparison of thyroidectomized calf serum and stripped serum for the study of thyroid hormone action in human skin fibroblasts in vitro.
PMID 19445627·Thyroid·2009
4-observational
Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.
PMID 18561095·Exp Clin Endocrinol Diabetes·2009
5-case
Oncogenic Kras requires simultaneous PI3K signaling to induce ERK activation and transform thyroid epithelial cells in vivo.
PMID 19351816·Cancer Res·2009
7-preclinical
Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone.
PMID 18084342·Nat Clin Pract Endocrinol Metab·2008
8-other
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
PMID 18042646·J Clin Endocrinol Metab·2008
5-case
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
PMID 17940114·J Clin Endocrinol Metab·2008
5-case
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.
PMID 18166539·Pediatrics·2008
5-case
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
PMID 18655531·J Pediatr Endocrinol Metab·2008
5-case
A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism.
PMID 17932107·Mol Endocrinol·2008
7-preclinical
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 180 HARVESTER DR STE 110
BURR RIDGE, IL 60527 - Phone
- (773) 834-4064
Quick Facts
- NPI
- 1518020031
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Accepted
- Specialties
- 1
- Locations
- 1
- Years in Practice
- 63
- Publications
- 20
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