1-13 of 13
Authors: S Refetoff
Journal Article
Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 81, Issue 12, 1 December 1996, Pages 4196–4203, https://doi.org/10.1210/jcem.81.12.8954015
Published: 01 December 1996
Journal Article
Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 81, Issue 10, 1 October 1996, Pages 3802–3806, https://doi.org/10.1210/jcem.81.10.8855841
Published: 01 October 1996
Journal Article
A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 81, Issue 9, 1 September 1996, Pages 3335–3340, https://doi.org/10.1210/jcem.81.9.8784093
Published: 01 September 1996
Journal Article
Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 80, Issue 12, 1 December 1995, Pages 3744–3749, https://doi.org/10.1210/jcem.80.12.8530628
Published: 01 December 1995
Journal Article
Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 80, Issue 11, 1 November 1995, Pages 3246–3256, https://doi.org/10.1210/jcem.80.11.7593433
Published: 01 November 1995
Journal Article
Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 80, Issue 1, 1 January 1995, Pages 116–121, https://doi.org/10.1210/jcem.80.1.7829599
Published: 01 January 1995
Journal Article
Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 78, Issue 6, 1 June 1994, Pages 1525–1528, https://doi.org/10.1210/jcem.78.6.8200958
Published: 01 June 1994
Journal Article
A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 78, Issue 5, 1 May 1994, Pages 1253–1256, https://doi.org/10.1210/jcem.78.5.8175986
Published: 01 May 1994
Journal Article
Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 78, Issue 4, 1 April 1994, Pages 990–993, https://doi.org/10.1210/jcem.78.4.8157732
Published: 01 April 1994
Journal Article
The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products. Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 76, Issue 1, 1 January 1993, Pages 64–69, https://doi.org/10.1210/jcem.76.1.8421105
Published: 01 January 1993
Journal Article
Multiple genetic factors in the heterogeneity of thyroid hormone resistance. Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 76, Issue 1, 1 January 1993, Pages 257–259, https://doi.org/10.1210/jcem.76.1.8421095
Published: 01 January 1993
Journal Article
Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 74, Issue 4, 1 April 1992, Pages 712–719, https://doi.org/10.1210/jcem.74.4.1548332
Published: 01 April 1992
Journal Article
Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 74, Issue 1, 1 January 1992, Pages 49–55, https://doi.org/10.1210/jcem.74.1.1727829
Published: 01 January 1992
