1-20 of 85
Authors: Samuel Refetoff
Journal Article
Effect of the Fetal THRB Genotype on the Placenta
The Journal of Clinical Endocrinology & Metabolism, Volume 108, Issue 10, October 2023, Pages e944–e948, https://doi.org/10.1210/clinem/dgad243
Published: 07 May 2023
Journal Article
Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism
The Journal of Clinical Endocrinology & Metabolism, Volume 105, Issue 5, May 2020, Pages 1564–1572, https://doi.org/10.1210/clinem/dgz297
Published: 23 December 2019
Journal Article
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 10, 1 October 2017, Pages 3775–3782, https://doi.org/10.1210/jc.2017-01251
Published: 04 August 2017
Journal Article
Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 9, 1 September 2017, Pages 3234–3240, https://doi.org/10.1210/jc.2017-00019
Published: 06 June 2017
Journal Article
A Novel Mechanism of Inherited TBG Deficiency: Mutation in a Liver-Specific Enhancer Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 100, Issue 1, 1 January 2015, Pages E173–E181, https://doi.org/10.1210/jc.2014-3490
Published: 01 January 2015
Journal Article
Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 99, Issue 12, December 2014, Pages E2799–E2804, https://doi.org/10.1210/jc.2014-2162
Published: 01 December 2014
Journal Article
Classification and Proposed Nomenclature for Inherited Defects of Thyroid Hormone Action, Cell Transport, and Metabolism Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 99, Issue 3, 1 March 2014, Pages 768–770, https://doi.org/10.1210/jc.2013-3393
Published: 01 March 2014
Journal Article
Management of Differentiated Thyroid Cancer in the Presence of Resistance to Thyroid Hormone and TSH-Secreting Adenomas: A Report of Four Cases and Review of the Literature Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 98, Issue 6, 1 June 2013, Pages 2210–2217, https://doi.org/10.1210/jc.2012-4142
Published: 01 June 2013
Journal Article
Coexistence of THRB and TBG Gene Mutations in a Turkish Family Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 98, Issue 6, 1 June 2013, Pages E1148–E1151, https://doi.org/10.1210/jc.2013-1413
Published: 01 June 2013
Journal Article
Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 12, 1 December 2012, Pages 4515–4523, https://doi.org/10.1210/jc.2012-2556
Published: 01 December 2012
Journal Article
Homozygous Thyroid Hormone Receptor β-Gene Mutations in Resistance to Thyroid Hormone: Three New Cases and Review of the Literature Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 4, 1 April 2012, Pages 1328–1336, https://doi.org/10.1210/jc.2011-2642
Published: 01 April 2012
Journal Article
The Coexistence of a Novel Inactivating Mutant Thyrotropin Receptor Allele with Two Thyroid Peroxidase Mutations: A Genotype-Phenotype Correlation Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 6, 1 June 2011, Pages E1001–E1006, https://doi.org/10.1210/jc.2011-0127
Published: 01 June 2011
Journal Article
Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 6, 1 June 2011, Pages E977–E981, https://doi.org/10.1210/jc.2010-2341
Published: 01 June 2011
Journal Article
A Single Copy of the Recently Identified Dual Oxidase Maturation Factor (DUOXA) 1 Gene Produces Only Mild Transient Hypothyroidism in a Patient with a Novel Biallelic DUOXA2 Mutation and Monoallelic DUOXA1 Deletion Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 5, 1 May 2011, Pages E841–E845, https://doi.org/10.1210/jc.2010-2321
Published: 01 May 2011
Journal Article
Thyroid Hormone Receptor α and Regulation of Type 3 Deiodinase Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 3, 1 March 2011, Page 873, https://doi.org/10.1210/jcem.96.3.zeg873
Published: 01 March 2011
Journal Article
Approach to the Patient with Resistance to Thyroid Hormone and Pregnancy Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 7, 1 July 2010, Pages 3094–3102, https://doi.org/10.1210/jc.2010-0409
Published: 01 July 2010
Journal Article
Autoimmunity in Patients with Resistance to Thyroid Hormone Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 7, 1 July 2010, Pages 3189–3193, https://doi.org/10.1210/jc.2009-2179
Published: 01 July 2010
Journal Article
Clinical and Molecular Characterization of a Novel Selenocysteine Insertion Sequence-Binding Protein 2 (SBP2) Gene Mutation (R128X) Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 94, Issue 10, 1 October 2009, Pages 4003–4009, https://doi.org/10.1210/jc.2009-0686
Published: 01 October 2009
Journal Article
Loss-of-Function Mutations in the Thyrotropin Receptor Gene as a Major Determinant of Hyperthyrotropinemia in a Consanguineous Community Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 94, Issue 5, 1 May 2009, Pages 1706–1712, https://doi.org/10.1210/jc.2008-1938
Published: 01 May 2009
Journal Article
Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 93, Issue 2, 1 February 2008, Pages 605–610, https://doi.org/10.1210/jc.2007-2020
Published: 01 February 2008
