Search filters

List of works by Samuel Refetoff

A Novel Point Mutation of Thyroid Hormone Receptor β Gene in a Family with Resistance to Thyroid Hormone ⬇️

scientific article published on 01 October 1997

A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies ⬇️

scientific article published on January 1, 2013

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

scientific article

Behavioral Effects of Liothyronine (L-T3) in Children with Attention Deficit Hyperactivity Disorder in the Presence and Absence of Resistance to Thyroid Hormone ⬇️

scientific article published on 01 June 1997

Changes in Thyroid Status During Perinatal Development of MCT8-Deficient Male Mice ⬇️

scientific article published on May 21, 2013

Coexistence ofTHRBandTBGGene Mutations in a Turkish Family ⬇️

scientific article published on April 30, 2013

Complete Deficiency of Thyroxine-Binding Globulin (TBG-CD Buffalo) Caused by a New Nonsense Mutation in the Thyroxine-Binding Globulin Gene ⬇️

scientific article published on February 1, 1998

Complete Thyroxine-Binding Globulin (TBG) Deficiency Produced by a Mutation in Acceptor Splice Site Causing Frameshift and Early Termination of Translation (TBG-Kankakee)12 ⬇️

scientific article published on October 1, 1998

Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene

scientific article

Congenital Secondary Hypothyroidism Caused by Exon Skipping due to a Homozygous Donor Splice Site Mutation in the TSHβ-Subunit Gene ⬇️

scientific article published on January 1, 2002

Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site

scientific article

Disruption of the Melanin-Concentrating Hormone Receptor 1 (MCH1R) Affects Thyroid Function ⬇️

scientific article published on September 28, 2012

Diverse Abnormalities of the c-erbAβ Thyroid Hormone Receptor Gene in Generalized Thyroid Hormone Resistance ⬇️

scientific article published on January 1, 1991

Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? ⬇️

scientific article published on November 1, 1995

Effects of “Jet Lag” on Hormonal Patterns. I. Procedures, Variations in Total Plasma Proteins, and Disruption of Adrenocorticotropin-Cortisol Periodicity* ⬇️

scientific article published on 01 April 1981

Familial Dysalbuminemic Hypertriiodothyroninemia: A New, Dominantly Inherited Albumin Defect1 ⬇️

scientific article published on 01 May 1998

Genetic analysis reveals different functions for the products of the thyroid hormone receptor alpha locus

scientific article

Genetic causes of congenital hypothyroidism due to dyshormonogenesis ⬇️

scientific article published on August 1, 2011

Hypothyroidism in a Brazilian Kindred Due to Iodide Trapping Defect Caused by a Homozygous Mutation in the Sodium/Iodide Symporter Gene ⬇️

scientific article published on November 17, 1997

Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families

scientific article published on June 1993

Incidental Identification of a Thyroid Hormone Receptor Beta (THRB) Gene Variant in a Family with Autoimmune Thyroid Disease ⬇️

scientific article published on September 13, 2013

Inherited defects of thyroid hormone metabolism ⬇️

scientific article published on April 21, 2011

Interconnection between circadian clocks and thyroid function

scientific article published on 12 August 2019

Isolation of rat prolactin messenger ribonucleic acid and synthesis of the complementary deoxyribonucleic acid

scientific article published on 01 December 1979

Low Serum Free Thyroxine Index in Ambulating Elderly Is due to a Resetting of the Threshold of Thyrotropin Feedback Suppression* ⬇️

scientific article published on October 1, 1991

Low TSH Requirement and Goiter in Transgenic Mice Overexpressing IGF-I and IGF-I Receptor in the Thyroid Gland ⬇️

scientific article published on December 1, 2001

Mice Deficient in Dual Oxidase Maturation Factors Are Severely Hypothyroid ⬇️

scientific article published on February 2, 2012

Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion

scientific article

Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier.

scientific article

Modulation of glucose regulation and insulin secretion by circadian rhythmicity and sleep

scientific article

Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks

scientific article

Multiple complications of propylthiouracil treatment: granulocytopenia, eosinophilia, skin reaction and hepatitis with lymphocyte sensitization ⬇️

scientific article published on 01 November 1982

Mutation in the Thyroid Hormone Receptor β Gene (A317T) in a Thai Subject with Resistance to Thyroid Hormone ⬇️

scientific article published on December 1, 1997

Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface.

scientific article

New insights on the mechanism(s) of the dominant negative effect of mutant thyroid hormone receptor in generalized resistance to thyroid hormone.

scientific article published on November 1992

Obatoclax overcomes resistance to cell death in aggressive thyroid carcinomas by countering Bcl2a1 and Mcl1 overexpression.

scientific article

Oncogenic Kras requires simultaneous PI3K signaling to induce ERK activation and transform thyroid epithelial cells in vivo

scientific article

Orcadian and Ultradian Variations of ACTH and Cortisol Secretion ⬇️

scientific article published on 01 January 1980

Probing the Cause of Thyroid Dysgenesis ⬇️

scientific article published on 01 June 1997

Radioautographic localization of prolactin messenger RNA on histological sections by in situ hybridization ⬇️

scientific article published on 01 May 1981

Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance

scientific article published on April 1, 1992

Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene ⬇️

scientific article published on January 1, 1992

Reduced Triiodothyronine Content in Liver but Not Pituitary of the Uremic Rat Model: Demonstration of Changes Compatible with Thyroid Hormone Deficiency in Liver Only* ⬇️

scientific article published on January 1, 1984

Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation

scientific article

Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency

scientific article

Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties

scientific article

Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions

scientific article

Sleep Deprivation in the Rat: XIX. Effects of Thyroxine Administration

scientific article published on June 1, 1995

Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activation

scientific article published on 21 November 2011

The Differential Stimulatory Effect of Thyroid Hormone on Growth Hormone Synthesis and Estrogen on Prolactin Synthesis due to Accumulation of Specific Messenger Ribonucleic Acids* ⬇️

scientific article published on April 1, 1979

The Value of Serum Thyroglobulin Measurement in Clinical Practice ⬇️

scientific article published on November 4, 1983

The effect of thyroid hormone on glycosaminoglycan accumulation in human skin fibroblasts ⬇️

scientific article published on 01 June 1981

The syndromes of reduced sensitivity to thyroid hormone ⬇️

scientific article published on August 16, 2012

Thyrocyte-specific inactivation of p53 and Pten results in anaplastic thyroid carcinomas faithfully recapitulating human tumors ⬇️

scientific article published on December 1, 2011

Thyroid Dysfunction Is Not Associated with Alterations in Serum Leptin Levels ⬇️

scientific article published on 01 June 1997

Thyroid Hormone Receptor α and Regulation of Type 3 Deiodinase ⬇️

scientific article published on February 3, 2011

Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo

scientific article

Two Cases of Thyroid Dysgenesis Caused by Different Novel PAX8 Mutations in the DNA-Binding Region: In Vitro Studies Reveal Different Pathogenic Mechanisms ⬇️

scientific article published on January 11, 2013

Two new inherited defects of the thyroxine-binding globulin (TBG) molecule presenting as partial TBG deficiency

scientific article

XB130 Deficiency Causes Congenital Hypothyroidism in Mice due to Disorganized Apical Membrane Structure and Function of Thyrocytes

scientific article published in 2021

Paulina is supported by:

About Paulina

Help