Samuel Refetoff

Samuel Refetoff

Pediatric Endocrinology | Endocrinology

5758 S. Maryland Ave.
Chicago, IL 60637

Last Updated: 09/26/2026

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Found 132 publications

THRB splice site variants lead to exon 4 skipping and TRβ1 gain-of-function syndrome.

THRB splice site variants lead to exon 4 skipping and TRβ1 gain-of-function syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: May 04, 2026

Foxe1 deficiency impairs thyroid fate while supporting lung differentiation.

Foxe1 deficiency impairs thyroid fate while supporting lung differentiation.

Journal: EMBO reports

Published: March 23, 2026

Thyroid Hormone Synthesis Without Thyroglobulin.

Thyroid Hormone Synthesis Without Thyroglobulin.

Journal: Thyroid : official journal of the American Thyroid Association

Published: March 09, 2026

Measuring deiodinase activity: a need for standardization?

Measuring deiodinase activity: a need for standardization?

Journal: European thyroid journal

Published: October 13, 2025

Reply to the letter by Dr Karlsson 'Rationale behind the European Thyroid Association 2024 Guideline to treat the Allan-Herndon-Dudley syndrome with tiratricol?'

Reply to the letter by Dr Karlsson 'Rationale behind the European Thyroid Association 2024 Guideline to treat the Allan-Herndon-Dudley syndrome with tiratricol?'

Journal: European thyroid journal

Published: August 20, 2025

A Genetically-Engineered Thyroid Gland Built for Selective Triiodothyronine Secretion.

A Genetically-Engineered Thyroid Gland Built for Selective Triiodothyronine Secretion.

Journal: International journal of molecular sciences

Published: May 13, 2025

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.

Journal: Endocrine

Published: April 30, 2025

Functional Domain Mapping of TPO: Insights from Six Variants in Sudanese Kindreds with Congenital Hypothyroidism.

Functional Domain Mapping of TPO: Insights from Six Variants in Sudanese Kindreds with Congenital Hypothyroidism.

Journal: The Journal of clinical endocrinology and metabolism

Published: April 28, 2025

Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism.

Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism.

Journal: The Journal of clinical endocrinology and metabolism

Published: April 28, 2025

Thyroidal expression of ER molecular chaperone GRP170 is required for efficient TSH-mediated thyroid hormone synthesis.

Thyroidal expression of ER molecular chaperone GRP170 is required for efficient TSH-mediated thyroid hormone synthesis.

Journal: JCI insight

Published: January 29, 2025

Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.

Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.

Journal: Thyroid : official journal of the American Thyroid Association

Published: September 16, 2024

Stimulated thyroid hormone synthesis machinery drives thyrocyte cell death independent of ER stress.

Stimulated thyroid hormone synthesis machinery drives thyrocyte cell death independent of ER stress.

Journal: The Journal of clinical investigation

Published: September 12, 2024

Showing 1-12 of 132

Last Updated: 09/26/2026