Samuel Refetoff to Humans
This is a "connection" page, showing publications Samuel Refetoff has written about Humans.
Connection Strength
1.830
-
Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome. JCI Insight. 2024 Feb 20; 9(7).
Score: 0.032
-
Effect of the Fetal THRB Genotype on the Placenta. J Clin Endocrinol Metab. 2023 09 18; 108(10):e944-e948.
Score: 0.031
-
Increased cardiovascular morbidity and mortality in patients with resistance to thyroid hormone. Lancet Diabetes Endocrinol. 2023 09; 11(9):628-629.
Score: 0.031
-
Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency. Thyroid. 2021 09; 31(9):1316-1321.
Score: 0.027
-
Resistance to Thyroid Hormone Beta: A Focused Review. Front Endocrinol (Lausanne). 2021; 12:656551.
Score: 0.026
-
Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation. Thyroid. 2021 05; 31(5):713-720.
Score: 0.025
-
Re: "Goiter in Residents of Salta, Argentina: An Artistic Rendition" by Jonklaas et al. (Thyroid 2020:30;34-36. DOI: 10.1089/thy.2019.0639). Thyroid. 2020 05; 30(5):783-784.
Score: 0.025
-
Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement. Thyroid. 2020 01; 30(1):37-41.
Score: 0.024
-
Interconnection between circadian clocks and thyroid function. Nat Rev Endocrinol. 2019 10; 15(10):590-600.
Score: 0.023
-
Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations. J Endocrinol Invest. 2020 Jan; 43(1):31-41.
Score: 0.023
-
Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid. 2018 06; 28(6):811-814.
Score: 0.022
-
13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action. Thyroid. 2018 06; 28(6):690-691.
Score: 0.021
-
Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHß). Methods Mol Biol. 2018; 1801:225-240.
Score: 0.021
-
Resistance to thyrotropin. Best Pract Res Clin Endocrinol Metab. 2017 03; 31(2):183-194.
Score: 0.020
-
DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. Thyroid. 2017 01; 27(1):129-131.
Score: 0.019
-
Inherited defects of thyroxine-binding proteins. Best Pract Res Clin Endocrinol Metab. 2015 Oct; 29(5):735-47.
Score: 0.018
-
The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency. Endocrinology. 2015 Nov; 156(11):3889-94.
Score: 0.018
-
A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid. 2015 Aug; 25(8):869-76.
Score: 0.018
-
Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid. 2015 Mar; 25(3):292-9.
Score: 0.017
-
A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81.
Score: 0.017
-
A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. Thyroid. 2014 Jun; 24(6):945-50.
Score: 0.016
-
Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid. 2014 Mar; 24(3):407-9.
Score: 0.016
-
Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. J Clin Endocrinol Metab. 2014 Mar; 99(3):768-70.
Score: 0.016
-
Coexistence of THRB and TBG gene mutations in a Turkish family. J Clin Endocrinol Metab. 2013 Jun; 98(6):E1148-51.
Score: 0.015
-
Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab. 2012 Dec; 97(12):4515-23.
Score: 0.015
-
The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013 Jul; 1830(7):3987-4003.
Score: 0.014
-
Homozygous thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. J Clin Endocrinol Metab. 2012 Apr; 97(4):1328-36.
Score: 0.014
-
Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. Thyroid. 2012 Mar; 22(3):252-7.
Score: 0.014
-
Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr. 2011 Aug; 23(4):421-8.
Score: 0.013
-
Inherited defects of thyroid hormone metabolism. Ann Endocrinol (Paris). 2011 Apr; 72(2):95-8.
Score: 0.013
-
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation. J Clin Endocrinol Metab. 2011 Jun; 96(6):E1001-6.
Score: 0.013
-
Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010 Jul; 95(7):3094-102.
Score: 0.012
-
The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
Score: 0.012
-
Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). J Clin Endocrinol Metab. 2009 Oct; 94(10):4003-9.
Score: 0.012
-
Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community. J Clin Endocrinol Metab. 2009 May; 94(5):1706-12.
Score: 0.011
-
A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant. Thyroid. 2009 Feb; 19(2):187-91.
Score: 0.011
-
Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone. Exp Clin Endocrinol Diabetes. 2009 Jan; 117(1):34-7.
Score: 0.011
-
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene. J Pediatr Endocrinol Metab. 2008 May; 21(5):479-86.
Score: 0.011
-
Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone. Nat Clin Pract Endocrinol Metab. 2008 Jan; 4(1):1.
Score: 0.010
-
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics. 2008 Jan; 121(1):e199-202.
Score: 0.010
-
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007 Jun; 21(2):277-305.
Score: 0.010
-
A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis. J Clin Endocrinol Metab. 2007 Jul; 92(7):2816-20.
Score: 0.010
-
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. Clin Endocrinol (Oxf). 2007 May; 66(5):695-702.
Score: 0.010
-
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. Mol Endocrinol. 2007 Jun; 21(6):1408-21.
Score: 0.010
-
Novel biological and clinical aspects of thyroid hormone metabolism. Endocr Dev. 2007; 10:127-139.
Score: 0.010
-
Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 Sep; 91(9):3471-7.
Score: 0.009
-
Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology. 2006 Sep; 147(9):4036-43.
Score: 0.009
-
Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. J Biol Chem. 2006 Jul 07; 281(27):18269-72.
Score: 0.009
-
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52.
Score: 0.009
-
Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. Hum Genet. 2005 Dec; 118(3-4):348-55.
Score: 0.009
-
Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes. Mol Endocrinol. 2005 Dec; 19(12):2955-63.
Score: 0.009
-
Resistance to thyroid hormone in a patient with thyroid dysgenesis. Thyroid. 2005 Jul; 15(7):730-3.
Score: 0.009
-
Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci. J Clin Endocrinol Metab. 2005 Jul; 90(7):4025-34.
Score: 0.009
-
Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family. J Endocrinol Invest. 2005 Apr; 28(4):379-83.
Score: 0.009
-
Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol Endocrinol. 2005 Jul; 19(7):1779-91.
Score: 0.009
-
A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab. 2005 Mar; 90(3):1760-7.
Score: 0.008
-
Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess. Eur J Endocrinol. 2004 Dec; 151(6):771-7.
Score: 0.008
-
Thyroid hormone responsive genes in cultured human fibroblasts. J Clin Endocrinol Metab. 2005 Feb; 90(2):936-43.
Score: 0.008
-
Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter. J Pediatr Endocrinol Metab. 2004 Jul; 17(7):1021-9.
Score: 0.008
-
Familial juvenile autoimmune hypothyroidism, pituitary enlargement, obesity, and insulin resistance. Thyroid. 2004 Apr; 14(4):311-9.
Score: 0.008
-
A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1). J Endocrinol Invest. 2004 Apr; 27(4):318-22.
Score: 0.008
-
Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid. 2004 Jan; 14(1):71-4.
Score: 0.008
-
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004 Jan; 74(1):168-75.
Score: 0.008
-
Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene. Clin Endocrinol (Oxf). 2003 Dec; 59(6):824-5.
Score: 0.008
-
The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function. Thyroid. 2023 10; 33(10):1255-1258.
Score: 0.008
-
Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor. Mol Endocrinol. 2003 Nov; 17(11):2295-302.
Score: 0.008
-
The syndrome of resistance to thyroid stimulating hormone. J Chin Med Assoc. 2003 Aug; 66(8):441-52.
Score: 0.008
-
Resistance to thyrotropin. J Endocrinol Invest. 2003 Aug; 26(8):770-9.
Score: 0.008
-
The effect of short-term treatment with recombinant human thyroid-stimulating hormones on leydig cell function in men. Thyroid. 2003 Jul; 13(7):649-52.
Score: 0.008
-
Perturbation of endoplasmic reticulum proteostasis triggers tissue injury in the thyroid gland. JCI Insight. 2023 06 22; 8(12).
Score: 0.008
-
A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child. Thyroid. 2003 Apr; 13(4):409-12.
Score: 0.008
-
Endoplasmic reticulum stress in the intestinal epithelium initiates purine metabolite synthesis and promotes Th17 cell differentiation in the gut. Immunity. 2023 05 09; 56(5):1115-1131.e9.
Score: 0.008
-
Resistance to thyroid hormone with and without receptor gene mutations. Ann Endocrinol (Paris). 2003 Feb; 64(1):23-5.
Score: 0.007
-
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid. 2023 02; 33(2):261-266.
Score: 0.007
-
Transplantable human thyroid organoids generated from embryonic stem cells to rescue hypothyroidism. Nat Commun. 2022 11 17; 13(1):7057.
Score: 0.007
-
A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002.
Score: 0.007
-
Pathogenesis of Multinodular Goiter in Elderly XB130-Deficient Mice: Alteration of Thyroperoxidase Affinity with Iodide and Hydrogen Peroxide. Thyroid. 2022 04; 32(4):385-396.
Score: 0.007
-
Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping. J Clin Endocrinol Metab. 2002 Mar; 87(3):1045-51.
Score: 0.007
-
Characterization of T(4)-binding globulin cleaved by human leukocyte elastase. J Clin Endocrinol Metab. 2002 Mar; 87(3):1217-22.
Score: 0.007
-
Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid. 2022 03; 32(3):336-339.
Score: 0.007
-
Triiodothyroacetic Acid Cross-Reacts With Measurement of Triiodothyronine (T3) on Various Immunoassay Platforms. Am J Clin Pathol. 2022 02 03; 157(2):156-158.
Score: 0.007
-
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. J Clin Endocrinol Metab. 2002 Jan; 87(1):336-9.
Score: 0.007
-
Low TSH requirement and goiter in transgenic mice overexpressing IGF-I and IGF-Ir receptor in the thyroid gland. Endocrinology. 2001 Dec; 142(12):5131-9.
Score: 0.007
-
Three novel mutations causing complete T(4)-binding globulin deficiency. J Clin Endocrinol Metab. 2001 Oct; 86(10):5039-44.
Score: 0.007
-
Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism. Thyroid. 2021 10; 31(10):1589-1591.
Score: 0.007
-
Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid. 2021 07; 31(7):1127-1134.
Score: 0.007
-
Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation. Thyroid. 2021 06; 31(6):1003-1005.
Score: 0.006
-
Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes. J Clin Endocrinol Metab. 2000 Oct; 85(10):3609-17.
Score: 0.006
-
Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207.
Score: 0.006
-
Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine. J Clin Endocrinol Metab. 2000 Aug; 85(8):2786-92.
Score: 0.006
-
Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2020 05 01; 105(5).
Score: 0.006
-
Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland. Thyroid. 2020 04; 30(4):640-642.
Score: 0.006
-
Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism. Thyroid. 2020 05; 30(5):780-782.
Score: 0.006
-
Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants. Thyroid. 2020 03; 30(3):463-465.
Score: 0.006
-
Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß. Horm Res Paediatr. 2019; 92(6):390-394.
Score: 0.006
-
Identification of thyroxine-binding globulin-San Diego in a family from Houston and its characterization by in vitro expression using Xenopus oocytes. J Clin Endocrinol Metab. 2000 Jan; 85(1):368-72.
Score: 0.006
-
Resistance to thyroid hormone. Rev Endocr Metab Disord. 2000 Jan; 1(1-2):97-108.
Score: 0.006
-
Improved radioimmunoassay for measurement of mouse thyrotropin in serum: strain differences in thyrotropin concentration and thyrotroph sensitivity to thyroid hormone. Thyroid. 1999 Dec; 9(12):1265-71.
Score: 0.006
-
Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene. J Clin Endocrinol Metab. 1999 Nov; 84(11):3919-28.
Score: 0.006
-
Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid. 2019 10; 29(10):1518-1520.
Score: 0.006
-
Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line. Thyroid. 2019 06; 29(6):778-782.
Score: 0.006
-
Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism. Biochimie. 1999 May; 81(5):469-76.
Score: 0.006
-
Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J Clin Endocrinol Metab. 1999 Mar; 84(3):1061-71.
Score: 0.006
-
Treatment of resistance to thyroid hormone--primum non nocere. J Clin Endocrinol Metab. 1999 Feb; 84(2):401-4.
Score: 0.006
-
Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
Score: 0.006
-
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight. 2018 10 18; 3(20).
Score: 0.006
-
Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee). J Clin Endocrinol Metab. 1998 Oct; 83(10):3604-8.
Score: 0.006
-
NFE2-Related Transcription Factor 2 Coordinates Antioxidant Defense with Thyroglobulin Production and Iodination in the Thyroid Gland. Thyroid. 2018 06; 28(6):780-798.
Score: 0.005
-
A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. BMC Med Genet. 2018 05 02; 19(1):69.
Score: 0.005
-
Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. J Clin Endocrinol Metab. 1998 May; 83(5):1448-54.
Score: 0.005
-
Selective pituitary resistance to thyroid hormone produced by expression of a mutant thyroid hormone receptor beta gene in the pituitary gland of transgenic mice. Biochem Biophys Res Commun. 1998 Apr 07; 245(1):204-10.
Score: 0.005
-
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. J Clin Invest. 1998 Mar 01; 101(5):1028-35.
Score: 0.005
-
Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene. Thyroid. 1998 Feb; 8(2):161-5.
Score: 0.005
-
Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH. J Clin Endocrinol Metab. 1997 Dec; 82(12):3933-40.
Score: 0.005
-
Mutation in the thyroid hormone receptor beta gene (A317T) in a Thai subject with resistance to thyroid hormone. Thyroid. 1997 Dec; 7(6):905-7.
Score: 0.005
-
Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. Biochem Biophys Res Commun. 1997 Nov 17; 240(2):488-91.
Score: 0.005
-
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017 10 01; 102(10):3775-3782.
Score: 0.005
-
A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone. Thyroid. 1997 Oct; 7(5):771-3.
Score: 0.005
-
Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome. Exp Clin Endocrinol Diabetes. 2018 02; 126(2):85-90.
Score: 0.005
-
Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice. J Clin Endocrinol Metab. 2017 09 01; 102(9):3234-3240.
Score: 0.005
-
Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature. Endocrinology. 2017 07 01; 158(7):2052-2057.
Score: 0.005
-
Probing the cause of thyroid dysgenesis. Thyroid. 1997 Jun; 7(3):325-6.
Score: 0.005
-
Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone. Thyroid. 1997 Jun; 7(3):389-93.
Score: 0.005
-
Thyroid dysfunction is not associated with alterations in serum leptin levels. Thyroid. 1997 Jun; 7(3):407-9.
Score: 0.005
-
Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier. Cell Stem Cell. 2017 06 01; 20(6):831-843.e5.
Score: 0.005
-
Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity. J Clin Endocrinol Metab. 1997 May; 82(5):1608-14.
Score: 0.005
-
Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C). Thyroid. 1997 Feb; 7(1):35-8.
Score: 0.005
-
Resistance to thyroid hormone. Curr Ther Endocrinol Metab. 1997; 6:132-4.
Score: 0.005
-
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. J Clin Endocrinol Metab. 1996 Dec; 81(12):4196-203.
Score: 0.005
-
Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH). Thyroid. 1996 Dec; 6(6):571-3.
Score: 0.005
-
Evaluation of pituitary and peripheral tissue markers of thyroid hormone action in an Iranian family with resistance to thyroid hormone. Thyroid. 1996 Dec; 6(6):589-93.
Score: 0.005
-
A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma. Thyroid. 2016 12; 26(12):1804-1806.
Score: 0.005
-
A new TRß mutation in resistance to thyroid hormone syndrome. Hormones (Athens). 2016 Oct; 15(4):534-539.
Score: 0.005
-
A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. J Clin Endocrinol Metab. 1996 Sep; 81(9):3335-40.
Score: 0.005
-
Effect of thyroid hormone on growth. Lessons from the syndrome of resistance to thyroid hormone. Endocrinol Metab Clin North Am. 1996 Sep; 25(3):719-30.
Score: 0.005
-
A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH). Thyroid. 1996 Aug; 6(4):311-2.
Score: 0.005
-
A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. Horm Res Paediatr. 2016; 86(2):137-142.
Score: 0.005
-
Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. Endocrinology. 2016 Apr; 157(4):1363-71.
Score: 0.005
-
Resistance to thyrotropin and other abnormalities of the thyrotropin receptor. Recent Prog Horm Res. 1996; 51:97-120; discussion 120-2.
Score: 0.005
-
A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor. Mol Endocrinol. 1996 Jan; 10(1):100-6.
Score: 0.005
-
Thyroxine-binding globulin: organization of the gene and variants. Horm Res. 1996; 45(3-5):128-38.
Score: 0.005
-
Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. J Clin Endocrinol Metab. 1995 Dec; 80(12):3744-9.
Score: 0.005
-
Neurocognitive characteristics of individuals with resistance to thyroid hormone: comparisons with individuals with attention-deficit hyperactivity disorder. J Dev Behav Pediatr. 1995 Dec; 16(6):406-11.
Score: 0.005
-
Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors? J Clin Endocrinol Metab. 1995 Nov; 80(11):3246-56.
Score: 0.005
-
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 1995 01 19; 332(3):155-60.
Score: 0.004
-
Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. J Clin Endocrinol Metab. 1995 Jan; 80(1):116-21.
Score: 0.004
-
Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading. J Pediatr Endocrinol Metab. 2015 Jan; 28(1-2):241-5.
Score: 0.004
-
Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination. J Clin Endocrinol Metab. 2014 Dec; 99(12):E2799-804.
Score: 0.004
-
Expression of a thyroid hormone-responsive recombinant gene introduced into adult mice livers by replication-defective adenovirus can be regulated by endogenous thyroid hormone receptor. J Biol Chem. 1994 Sep 30; 269(39):23872-5.
Score: 0.004
-
Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone. J Clin Invest. 1994 Aug; 94(2):607-15.
Score: 0.004
-
An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families. Biochem Biophys Res Commun. 1994 Jul 29; 202(2):781-7.
Score: 0.004
-
Obatoclax overcomes resistance to cell death in aggressive thyroid carcinomas by countering Bcl2a1 and Mcl1 overexpression. Endocr Relat Cancer. 2014 Oct; 21(5):755-67.
Score: 0.004
-
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. J Clin Endocrinol Metab. 1994 Jun; 78(6):1525-8.
Score: 0.004
-
A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. J Clin Endocrinol Metab. 1994 May; 78(5):1253-6.
Score: 0.004
-
Resistance to thyroid hormone and its molecular basis. Acta Paediatr Jpn. 1994 Feb; 36(1):1-15.
Score: 0.004
-
Resistance to thyroid hormone. Curr Ther Endocrinol Metab. 1994; 5:117-9.
Score: 0.004
-
Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine. Thyroid. 1994; 4(3):249-54.
Score: 0.004
-
Resistance to thyroid hormone: an historical overview. Thyroid. 1994; 4(3):345-9.
Score: 0.004
-
Polymorphism of a variant human thyrotropin receptor (hTSHR) gene. Thyroid. 1994; 4(2):147-9.
Score: 0.004
-
How clinical observations of a congenital disease can be translated in terms of molecular biology. Perspect Biol Med. 1994; 37(3):315-26.
Score: 0.004
-
American Thyroid Association Guide to investigating thyroid hormone economy and action in rodent and cell models. Thyroid. 2014 Jan; 24(1):88-168.
Score: 0.004
-
Attention-deficit hyperactivity disorder and thyroid function. J Pediatr. 1993 Oct; 123(4):539-45.
Score: 0.004
-
Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings. Curr Opin Endocrinol Diabetes Obes. 2013 Oct; 20(5):434-40.
Score: 0.004
-
Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease. Thyroid. 2013 Dec; 23(12):1638-43.
Score: 0.004
-
Resistance to thyroid hormone. Clin Lab Med. 1993 Sep; 13(3):563-81.
Score: 0.004
-
Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation. Mol Endocrinol. 1993 Aug; 7(8):1049-60.
Score: 0.004
-
The syndromes of resistance to thyroid hormone. Endocr Rev. 1993 Jun; 14(3):348-99.
Score: 0.004
-
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. J Clin Invest. 1993 Jun; 91(6):2408-15.
Score: 0.004
-
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. J Clin Endocrinol Metab. 2013 Jun; 98(6):2210-7.
Score: 0.004
-
Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms. Thyroid. 2013 Jul; 23(7):791-6.
Score: 0.004
-
A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies. J Pediatr Endocrinol Metab. 2013; 26(1-2):119-23.
Score: 0.004
-
Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab. 1993 Jan; 76(1):257-9.
Score: 0.004
-
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. J Clin Endocrinol Metab. 1993 Jan; 76(1):64-9.
Score: 0.004
-
Generation of functional thyroid from embryonic stem cells. Nature. 2012 Nov 01; 491(7422):66-71.
Score: 0.004
-
Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions. Biochim Biophys Acta. 1992 Aug 25; 1139(4):307-10.
Score: 0.004
-
In vitro expression of thyroxine-binding globulin (TBG) variants. Impaired secretion of TBGPRO-227 but not TBGPRO-113. J Biol Chem. 1992 Jul 15; 267(20):13998-4004.
Score: 0.004
-
Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. J Clin Endocrinol Metab. 1992 Apr; 74(4):712-9.
Score: 0.004
-
Thyroid hormone resistance. Annu Rev Med. 1992; 43:363-75.
Score: 0.003
-
Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. J Clin Endocrinol Metab. 1992 Jan; 74(1):49-55.
Score: 0.003
-
Transsphenoidal surgery for Cushing disease: experience with 136 patients. Neurosurgery. 2012 Jan; 70(1):70-80; discussion 80-1.
Score: 0.003
-
Thyrocyte-specific inactivation of p53 and Pten results in anaplastic thyroid carcinomas faithfully recapitulating human tumors. Oncotarget. 2011 Dec; 2(12):1109-26.
Score: 0.003
-
Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activation. J Clin Invest. 2011 Dec; 121(12):4700-11.
Score: 0.003
-
Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene. Metabolism. 1991 Nov; 40(11):1231-4.
Score: 0.003
-
Low serum free thyroxine index in ambulating elderly is due to a resetting of the threshold of thyrotropin feedback suppression. J Clin Endocrinol Metab. 1991 Oct; 73(4):843-9.
Score: 0.003
-
Molecular cloning and primary structure of rat thyroxine-binding globulin. Biochemistry. 1991 Jun 04; 30(22):5406-11.
Score: 0.003
-
Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency. Hum Genet. 1991 Jun; 87(2):119-22.
Score: 0.003
-
Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions. Am J Hum Genet. 1991 Apr; 48(4):741-4.
Score: 0.003
-
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis. J Clin Endocrinol Metab. 2011 Jun; 96(6):E977-81.
Score: 0.003
-
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. J Clin Endocrinol Metab. 2011 May; 96(5):E841-5.
Score: 0.003
-
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. J Clin Invest. 1991 Feb; 87(2):496-502.
Score: 0.003
-
Thyrotrophin receptor signaling dependence of Braf-induced thyroid tumor initiation in mice. Proc Natl Acad Sci U S A. 2011 Jan 25; 108(4):1615-20.
Score: 0.003
-
Diverse abnormalities of the c-erbA beta thyroid hormone receptor gene in generalized thyroid hormone resistance. Adv Exp Med Biol. 1991; 299:251-8.
Score: 0.003
-
Neonatal detection of generalized resistance to thyroid hormone. JAMA. 1990 Nov 07; 264(17):2245-50.
Score: 0.003
-
Stanniocalcin 1 induction by thyroid hormone depends on thyroid hormone receptor ß and phosphatidylinositol 3-kinase activation. Exp Clin Endocrinol Diabetes. 2011 Feb; 119(2):81-5.
Score: 0.003
-
Autoimmunity in patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 2010 Jul; 95(7):3189-93.
Score: 0.003
-
Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: responses to thyrotropin-releasing hormone stimulation and short term triiodothyronine suppression. J Clin Endocrinol Metab. 1990 May; 70(5):1305-11.
Score: 0.003
-
Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks. J Endocrinol Invest. 1990 Apr; 13(4):343-9.
Score: 0.003
-
Distinct and histone-specific modifications mediate positive versus negative transcriptional regulation of TSHalpha promoter. PLoS One. 2010 Mar 24; 5(3):e9853.
Score: 0.003
-
Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect. J Clin Endocrinol Metab. 1990 Mar; 70(3):804-9.
Score: 0.003
-
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Dev Med Child Neurol. 2010 May; 52(5):475-82.
Score: 0.003
-
Inherited thyroxine-binding globulin abnormalities in man. Endocr Rev. 1989 Aug; 10(3):275-93.
Score: 0.003
-
Comparison of thyroidectomized calf serum and stripped serum for the study of thyroid hormone action in human skin fibroblasts in vitro. Thyroid. 2009 Jun; 19(6):639-44.
Score: 0.003
-
Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties. J Clin Invest. 1989 Apr; 83(4):1344-8.
Score: 0.003
-
Leukocyte alkaline phosphatase in hypothyroidism and hyperthyroidism. Response to initiation of thyroxine replacement therapy. Metabolism. 1989 Apr; 38(4):311-4.
Score: 0.003
-
Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid. 2009 Mar; 19(3):277-81.
Score: 0.003
-
A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule. Mol Endocrinol. 1989 Mar; 3(3):575-9.
Score: 0.003
-
The syndrome of generalized resistance to thyroid hormone (GRTH). Endocr Res. 1989; 15(4):717-43.
Score: 0.003
-
Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin. J Clin Endocrinol Metab. 1988 Dec; 67(6):1166-70.
Score: 0.003
-
Relationship of oligosaccharide modification to the cause of serum thyroxine-binding globulin excess. J Clin Endocrinol Metab. 1988 May; 66(5):1037-43.
Score: 0.003
-
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab. 2008 Feb; 93(2):605-10.
Score: 0.003
-
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. J Clin Endocrinol Metab. 2008 Jan; 93(1):267-77.
Score: 0.003
-
Reduced clearance rate of thyroxine-binding globulin (TBG) with increased sialylation: a mechanism for estrogen-induced elevation of serum TBG concentration. J Clin Endocrinol Metab. 1987 Oct; 65(4):689-96.
Score: 0.003
-
Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy. J Clin Endocrinol Metab. 1986 Dec; 63(6):1432-7.
Score: 0.002
-
International Union of Pharmacology. LIX. The pharmacology and classification of the nuclear receptor superfamily: thyroid hormone receptors. Pharmacol Rev. 2006 Dec; 58(4):705-11.
Score: 0.002
-
Inherited heat-stable variant thyroxine-binding globulin (TBG-Chicago). J Clin Endocrinol Metab. 1986 Nov; 63(5):1140-4.
Score: 0.002
-
TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature. J Mol Med (Berl). 2006 Oct; 84(10):864-71.
Score: 0.002
-
Isoelectric focusing variant thyroxine-binding globulin in American blacks: increased heat lability and reduced serum concentration. J Clin Endocrinol Metab. 1986 Jul; 63(1):80-7.
Score: 0.002
-
Homogeneous apoenzyme reactivation immunoassay for thyroxin-binding globulin in serum. Clin Chem. 1986 May; 32(5):826-30.
Score: 0.002
-
The role of glycosylation in the molecular conformation and secretion of thyroxine-binding globulin. Endocrinology. 1986 Apr; 118(4):1614-21.
Score: 0.002
-
Inherited abnormality of thyroxine-binding globulin with no demonstrable thyroxine-binding activity and high serum levels of denatured thyroxine-binding globulin. N Engl J Med. 1986 Mar 13; 314(11):694-9.
Score: 0.002
-
A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 May; 91(5):1887-95.
Score: 0.002
-
Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I). Mol Endocrinol. 2006 Apr; 20(4):893-903.
Score: 0.002
-
Measurement of thyroxine uptake from serum by cultured human hepatocytes as an index of thyroid status: reduced thyroxine uptake from serum of patients with nonthyroidal illness. J Clin Endocrinol Metab. 1985 Dec; 61(6):1046-52.
Score: 0.002
-
Defective thyroglobulin storage in LDL receptor-associated protein-deficient mice. Am J Physiol Cell Physiol. 2006 Apr; 290(4):C1160-7.
Score: 0.002
-
Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome. J Clin Endocrinol Metab. 2006 Jan; 91(1):270-6.
Score: 0.002
-
A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta. Ir J Med Sci. 2005 Oct-Dec; 174(4):60-4.
Score: 0.002
-
Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface. J Clin Invest. 2005 Sep; 115(9):2517-23.
Score: 0.002
-
Multifactorial control of the 24-hour secretory profiles of pituitary hormones. J Endocrinol Invest. 1985 Aug; 8(4):381-91.
Score: 0.002
-
Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T). J Lab Clin Med. 2005 Aug; 146(2):85-94.
Score: 0.002
-
Evidence for two subtypes of Cushing's disease based on the analysis of episodic cortisol secretion. N Engl J Med. 1985 May 23; 312(21):1343-9.
Score: 0.002
-
Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation. Cancer Res. 2005 May 15; 65(10):4238-45.
Score: 0.002
-
X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol. 2005 Jun; 252(6):663-6.
Score: 0.002
-
Characterization of thyroxine-binding globulin secreted by a human hepatoma cell line. J Clin Endocrinol Metab. 1985 Mar; 60(3):472-8.
Score: 0.002
-
The effect of dexamethasone on the 24-hour profiles of adrenocorticotropin and cortisol in Cushing's syndrome. J Clin Endocrinol Metab. 1985 Mar; 60(3):527-35.
Score: 0.002
-
X-chromosome-linked inheritance of the variant thyroxine-binding globulin in Australian aborigines. J Clin Endocrinol Metab. 1985 Feb; 60(2):356-60.
Score: 0.002
-
Thyroid hormone induces rapid activation of Akt/protein kinase B-mammalian target of rapamycin-p70S6K cascade through phosphatidylinositol 3-kinase in human fibroblasts. Mol Endocrinol. 2005 Jan; 19(1):102-12.
Score: 0.002
-
Delineation of the discontinuous-conformational epitope of a monoclonal antibody displaying full in vitro and in vivo thyrotropin activity. Mol Endocrinol. 2004 Dec; 18(12):3020-34.
Score: 0.002
-
Fetal loss associated with excess thyroid hormone exposure. JAMA. 2004 Aug 11; 292(6):691-5.
Score: 0.002
-
Radioimmunoassays specific for the tertiary and primary structures of thyroxine-binding globulin (TBG): measurement of denatured TBG in serum. J Clin Endocrinol Metab. 1984 Aug; 59(2):269-77.
Score: 0.002
-
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect. J Clin Endocrinol Metab. 2004 Aug; 89(8):4136-41.
Score: 0.002
-
Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide. J Clin Endocrinol Metab. 2004 May; 89(5):2477-83.
Score: 0.002
-
Preferential megalin-mediated transcytosis of low-hormonogenic thyroglobulin: a control mechanism for thyroid hormone release. Proc Natl Acad Sci U S A. 2003 Dec 09; 100(25):14858-63.
Score: 0.002
-
The value of serum thyroglobulin measurement in clinical practice. JAMA. 1983 Nov 04; 250(17):2352-7.
Score: 0.002
-
Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. Clin Endocrinol (Oxf). 2003 Oct; 59(4):500-6.
Score: 0.002
-
Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. J Clin Endocrinol Metab. 1983 Sep; 57(3):665-7.
Score: 0.002
-
The consequences of inappropriate treatment because of failure to recognize the syndrome of pituitary and peripheral tissue resistance to thyroid hormone. Metabolism. 1983 Aug; 32(8):822-34.
Score: 0.002
-
The pathogenic role of anti-thyroglobulin antibody on pregnancy: evidence from an active immunization model in mice. Hum Reprod. 2003 May; 18(5):1094-9.
Score: 0.002
-
Retrospective and prospective study of radiation-induced thyroid disease. Am J Med. 1983 May; 74(5):852-62.
Score: 0.002
-
Multiple complications of propylthiouracil treatment: granulocytopenia, eosinophilia, skin reaction and hepatitis with lymphocyte sensitization. J Endocrinol Invest. 1982 Nov-Dec; 5(6):403-7.
Score: 0.002
-
Regulation of glycosaminoglycan synthesis by thyroid hormone in vitro. J Clin Invest. 1982 Nov; 70(5):1066-73.
Score: 0.002
-
Syndromes of thyroid hormone resistance. Am J Physiol. 1982 Aug; 243(2):E88-98.
Score: 0.002
-
Serum thyroglobulin in the management of patients with thyroid cancer. Arch Intern Med. 1982 Apr; 142(4):763-7.
Score: 0.002
-
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002 Feb; 109(4):469-73.
Score: 0.002
-
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene. J Pediatr. 2001 Dec; 139(6):887-91.
Score: 0.002
-
Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance. Mol Endocrinol. 2001 Sep; 15(9):1529-38.
Score: 0.002
-
Resistance to thyroid hormone does not abrogate the transient thyrotoxicosis associated with gestation: report of a case. J Clin Endocrinol Metab. 2001 Sep; 86(9):4273-5.
Score: 0.002
-
Genetic analysis reveals different functions for the products of the thyroid hormone receptor alpha locus. Mol Cell Biol. 2001 Jul; 21(14):4748-60.
Score: 0.002
-
The effect of thyroid hormone on glycosaminoglycan accumulation in human skin fibroblasts. Endocrinology. 1981 Jun; 108(6):2397-9.
Score: 0.002
-
Autoantibodies from patients with autoimmune thyroid disease do not interfere with the activity of the human iodide symporter gene stably transfected in CHO cells. Eur J Endocrinol. 2001 Jun; 144(6):611-8.
Score: 0.002
-
Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female. J Endocrinol Invest. 1980 Oct-Dec; 3(4):349-52.
Score: 0.002
-
Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone. J Clin Endocrinol Metab. 1980 Jul; 51(1):41-5.
Score: 0.002
-
Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters. J Clin Endocrinol Metab. 2000 Jul; 85(7):2366-9.
Score: 0.002
-
Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene. Thyroid. 2000 May; 10(5):387-91.
Score: 0.002
-
Transient elevation of serum thyroid hormone concentration after initiation of replacement therapy in myxedema. Ann Intern Med. 1980 Apr; 92(4):491-5.
Score: 0.002
-
Postirradiation screening for thyroid nodules. JAMA. 1980 Mar 21; 243(11):1131-2.
Score: 0.002
-
Genetic immunization of outbred mice with thyrotropin receptor cDNA provides a model of Graves' disease. J Clin Invest. 2000 Mar; 105(6):803-11.
Score: 0.002
-
A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone. Thyroid. 1999 Dec; 9(12):1195-203.
Score: 0.001
-
Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene. Thyroid. 1999 Oct; 9(10):995-1000.
Score: 0.001
-
Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene. Thyroid. 1999 Oct; 9(10):1001-4.
Score: 0.001
-
The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor. Thyroid. 1999 Sep; 9(9):887-94.
Score: 0.001
-
Heterogeneous human prolactin from a giant pituitary tumor in a patient with panhypopituitarism. J Clin Endocrinol Metab. 1978 Oct; 47(4):780-7.
Score: 0.001
-
Loss of bioreactivity and preservation of immunoreactivity of iodothyrotropin-releasing hormone. Endocrinology. 1978 Jul; 103(1):246-53.
Score: 0.001
-
Transient iodide trapping defect in Hashimoto's thyroiditis detected by the combination of radionuclide and fluorescent scanning. Br J Radiol. 1977 Nov; 50(599):827-30.
Score: 0.001
-
Thyroid dysfunction in chronic renal failure. A study of the pituitary-thyroid axis and peripheral turnover kinetics of thyroxine and triiodothyronine. J Clin Invest. 1977 Sep; 60(3):522-34.
Score: 0.001
-
Modification of thyroid hormone and 9-cis retinoic acid signaling by overexpression of their cognate receptors using adenoviral vector. Mol Cell Endocrinol. 1997 Jul 04; 131(1):59-66.
Score: 0.001
-
The action of thyroid hormone. Clin Endocrinol (Oxf). 1977 Mar; 6(3):227-49.
Score: 0.001
-
Graves' disease associated with familial deficiency of thyroxine-binding globulin. J Clin Endocrinol Metab. 1977 Feb; 44(2):242-7.
Score: 0.001
-
Rapid control of thyrotoxicosis with combined 131I, anthithyroid drugs and KI therapy. J Nucl Med Allied Sci. 1977 Jan-Jun; 21(1-2):23-9.
Score: 0.001
-
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. J Clin Endocrinol Metab. 1996 Oct; 81(10):3802-6.
Score: 0.001
-
Pretibial myxedema--a reversible cause of foot drop due to entrapment of the peroneal nerve. N Engl J Med. 1976 Jun 17; 294(25):1383-4.
Score: 0.001
-
Functional characteristics of a variant thyrotropin receptor. Eur J Biochem. 1996 Jun 01; 238(2):490-4.
Score: 0.001
-
Measurement of circulating thyroid microsomal antibodies by the tanned red cell haemagglutination technique: its usefulness in the diagnosis of autoimmune thyroid diseases. Clin Endocrinol (Oxf). 1976 Mar; 5(2):115-25.
Score: 0.001
-
Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess. J Clin Invest. 1976 Feb; 57(2):485-95.
Score: 0.001
-
Expression of thyroid peroxidase in EBV-transformed B cell lines using adenovirus. Thyroid. 1996 Feb; 6(1):23-8.
Score: 0.001
-
Effects of aging on glucose regulation during wakefulness and sleep. Am J Physiol. 1995 Dec; 269(6 Pt 1):E1006-16.
Score: 0.001
-
Molecular and structural characterization of the heat-resistant thyroxine-binding globulin-Chicago. J Biol Chem. 1995 Nov 24; 270(47):28234-8.
Score: 0.001
-
Thyroid hormone therapy. Med Clin North Am. 1975 Sep; 59(5):1147-62.
Score: 0.001
-
High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel. Isr J Med Sci. 1995 Aug; 31(8):500-2.
Score: 0.001
-
Molecular cloning of an orphan G-protein-coupled receptor that constitutively activates adenylate cyclase. Biochem J. 1995 Aug 01; 309 ( Pt 3):837-43.
Score: 0.001
-
Studies on human thyroxine-binding globulin (TBG). IX. Some physical, chemical, and biological properties of radioiodinated TBG and partially desialylated TBG. J Clin Invest. 1975 Jul; 56(1):177-87.
Score: 0.001
-
Studies on the repression of basal transcription (silencing) by artificial and natural human thyroid hormone receptor-beta mutants. Endocrinology. 1995 Jul; 136(7):2845-51.
Score: 0.001
-
Continuing occurrence of thyroid carcinoma after irradiation to the neck in infancy and childhood. N Engl J Med. 1975 Jan 23; 292(4):171-5.
Score: 0.001
-
Radioimmunoassay for serum triiodothyronine: evaluation of simple techniques to control interference from binding proteins. Clin Chem. 1974 Sep; 20(9):1150-4.
Score: 0.001
-
Neonatal hypothyroidism and goiter in one infant of each of two sets of twins due to maternal therapy with antithyroid drugs. J Pediatr. 1974 Aug; 85(2):240-4.
Score: 0.001
-
Demonstration of rapid light-induced advances and delays of the human circadian clock using hormonal phase markers. Am J Physiol. 1994 Jun; 266(6 Pt 1):E953-63.
Score: 0.001
-
Nocturnal exercise phase delays circadian rhythms of melatonin and thyrotropin secretion in normal men. Am J Physiol. 1994 Jun; 266(6 Pt 1):E964-74.
Score: 0.001
-
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK. Clin Endocrinol (Oxf). 1994 May; 40(5):697-700.
Score: 0.001
-
The radioiodination of ribopolymers for use in hybridizational and molecular analyses. J Biol Chem. 1974 Apr 10; 249(7):2143-50.
Score: 0.001
-
The preparation of carrier-free iodine isotope-substituted cytosine nucleotides. Biochim Biophys Acta. 1974 Apr 10; 340(4):446-51.
Score: 0.001
-
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K. J Endocrinol Invest. 1994 Apr; 17(4):283-7.
Score: 0.001
-
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. J Clin Endocrinol Metab. 1994 Apr; 78(4):990-3.
Score: 0.001
-
Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK. Eur J Endocrinol. 1994 Apr; 130(4):426-8.
Score: 0.001
-
Interrelationships in the regulation of TSH and prolactin secretion in man: effects of L-dopa, TRH and thyroid hormone in various combinations. J Clin Endocrinol Metab. 1974 Mar; 38(3):450-7.
Score: 0.001
-
Gene screening in Japanese families with complete deficiency of thyroxine-binding globulin demonstrates that a nucleotide deletion at codon 352 may be a race specific mutation. Clin Endocrinol (Oxf). 1994 Feb; 40(2):221-6.
Score: 0.001
-
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K. Thyroid. 1994; 4(1):135-7.
Score: 0.001
-
The effects of low doses of depot estradiol and testosterone in teenagers with ovarian failure and Turner's syndrome. J Clin Endocrinol Metab. 1973 Oct; 37(4):574-80.
Score: 0.001
-
Hyperthyroidism and adult celiac disease. Am J Gastroenterol. 1973 Oct; 60(4):387-93.
Score: 0.001
-
Diagnosis and management of thyroid diseases in pregnancy. J Reprod Med. 1973 Jul; 11(1):19-22.
Score: 0.001
-
Hybridization of RNA labelled with 125 I to high specific activity. Nat New Biol. 1973 Apr 04; 242(118):142-5.
Score: 0.001
-
Preliminary studies on the immediate phase-shifting effects of light and exercise on the human circadian clock. J Biol Rhythms. 1993; 8 Suppl:S99-108.
Score: 0.001
-
Chiari-Frommel syndrome in a patient with primary adrenocortical insufficiency. N Engl J Med. 1972 Dec 28; 287(26):1326-8.
Score: 0.001
-
Metabolism of L-thyroxine (T4) and L-triiodothyronine (T3) by human fibroblasts in tissue culture: evidence for cellular binding proteins and conversion of T4 to T3. Endocrinology. 1972 Oct; 91(4):934-47.
Score: 0.001
-
Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism. 1972 Aug; 21(8):723-56.
Score: 0.001
-
Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus. J Clin Invest. 1972 Apr; 51(4):848-67.
Score: 0.001
-
Estimation of the T 4 binding capacity of serum TBG and TBPA by a single T 4 load ion exchange resin method. J Nucl Med. 1972 Jan; 13(1):2-12.
Score: 0.001
-
Alterations in thyroxine (T 4 ) and tri-iodothyronine (T 3 ) binding to serum proteins by heat. J Lab Clin Med. 1971 Dec; 78(6):999-1000.
Score: 0.001
-
Pseudomalabsorption of levothyroxine. JAMA. 1991 Oct 16; 266(15):2118-20.
Score: 0.001
-
Modulation of glucose regulation and insulin secretion by circadian rhythmicity and sleep. J Clin Invest. 1991 Sep; 88(3):934-42.
Score: 0.001
-
Diurnal rhythm in total serum thyroxine levels. Metabolism. 1971 Aug; 20(8):782-91.
Score: 0.001
-
Genetic polymorphism in rhesus C3 and Gc globulin. J Immunol. 1971 Jul; 107(1):96-8.
Score: 0.001
-
Identification of a serum protein polymorphism via two-dimensional electrophoresis. Family and population studies in two genetically isolated groups: North American Hutterites and Australian aborigines. Am J Hum Genet. 1991 Feb; 48(2):362-9.
Score: 0.001
-
Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone. Mol Endocrinol. 1990 Dec; 4(12):1988-94.
Score: 0.001
-
Parameters of thyroid function in serum of 16 selected vertebrate species: a study of PBI, serum T4, free T4, and the pattern of T4 and T3 binding to serum proteins. Endocrinology. 1970 Apr; 86(4):793-805.
Score: 0.001
-
Disappearance rate of endogenous and exogenous human growth hormone in man. J Clin Endocrinol Metab. 1970 Mar; 30(3):386-92.
Score: 0.001
-
Endemic goiter with hypothyroidism in three generations. J Clin Endocrinol Metab. 1969 Dec; 29(12):1596-600.
Score: 0.001
-
Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. Proc Natl Acad Sci U S A. 1989 Nov; 86(22):8977-81.
Score: 0.001
-
A new inherited abnormality of thyroxine-binding globulin (TBG-San Diego) with decreased affinity for thyroxine and triiodothyronine. J Clin Endocrinol Metab. 1989 Jan; 68(1):114-9.
Score: 0.001
-
Detection of the thyroxine-binding globulin (TBG) gene in six unrelated families with complete TBG deficiency. J Clin Endocrinol Metab. 1988 Oct; 67(4):727-33.
Score: 0.001
-
Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred. N Engl J Med. 1968 May 16; 278(20):1081-7.
Score: 0.001
-
Effect of estrogen on the synthesis and secretion of thyroxine-binding globulin by a human hepatoma cell line, Hep G2. Mol Endocrinol. 1988 Apr; 2(4):313-23.
Score: 0.001
-
Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration. J Clin Endocrinol Metab. 1988 Apr; 66(4):740-6.
Score: 0.001
-
A study on the inheritance of thyroxine-binding globulin (TBG) deficiency from data obtained in 13 families detected by a neonatal screening program. Clin Invest Med. 1988 Feb; 11(1):34-9.
Score: 0.001
-
Common tests of thyroid function in serum. JAMA. 1967 Oct 09; 202(2):135-6.
Score: 0.001
-
Radioimmunoassay of anterior pituitary hormones. Radiol Clin North Am. 1967 Aug; 5(2):317-31.
Score: 0.001
-
Resistance to thyroid hormone diagnosed by the reduced response of fibroblasts to the triiodothyronine-induced suppression of fibronectin synthesis. J Clin Endocrinol Metab. 1987 Aug; 65(2):242-6.
Score: 0.001
-
Two new inherited defects of the thyroxine-binding globulin (TBG) molecule presenting as partial TBG deficiency. J Clin Invest. 1987 Mar; 79(3):833-40.
Score: 0.001
-
Thyroid hormone inhibits fibronectin synthesis by cultured human skin fibroblasts. J Clin Endocrinol Metab. 1987 Feb; 64(2):334-9.
Score: 0.001
-
Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967 Feb; 27(2):279-94.
Score: 0.001
-
Nuclear thyroid hormone receptors in cultured human fibroblasts: improved method of isolation, partial characterization, and interaction with chromatin. Metabolism. 1986 Sep; 35(9):861-8.
Score: 0.001
-
Variant thyroxine-binding globulin in serum of Australian aborigines: a comparison with familial TBG deficiency in Caucasians and American blacks. J Endocrinol Invest. 1985 Jun; 8(3):217-24.
Score: 0.001
-
Variant thyroxine-binding globulin in serum of Australian aborigines: its physical, chemical and biological properties. J Endocrinol Invest. 1985 Jun; 8(3):225-32.
Score: 0.001
-
Hormonal regulation of glycosaminoglycan accumulation in fibroblasts from patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 1983 Dec; 57(6):1233-9.
Score: 0.000
-
Coexisting thyroid and parathyroid disease--are they related? Surgery. 1983 Dec; 94(6):893-900.
Score: 0.000
-
Effects of "jet lag" on hormonal patterns. IV. Time shifts increase growth hormone release. J Clin Endocrinol Metab. 1983 Mar; 56(3):433-40.
Score: 0.000
-
The influence of percutaneous fine needle aspiration on serum thyroglobulin. J Clin Endocrinol Metab. 1983 Jan; 56(1):26-9.
Score: 0.000
-
Effects of "jet lag" on hormonal patterns. III. Demonstration of an intrinsic circadian rhythmicity in plasma prolactin. J Clin Endocrinol Metab. 1982 Nov; 55(5):849-57.
Score: 0.000
-
Radioimmunoassay detection of endorphins from long-term culture of human pituitary tumour cells. Acta Endocrinol (Copenh). 1982 Feb; 99(2):174-8.
Score: 0.000
-
The relationship between episodic variations of plasma prolactin and REM-non-REM cyclicity is an artifact. J Clin Endocrinol Metab. 1982 Jan; 54(1):70-5.
Score: 0.000
-
Quantitative analysis of spontaneous variations of plasma prolactin in normal man. Am J Physiol. 1981 Nov; 241(5):E355-63.
Score: 0.000
-
Effects of "jet lag" on hormonal patterns. I. Procedures, variations in total plasma proteins, and disruption of adrenocorticotropin-cortisol periodicity. J Clin Endocrinol Metab. 1981 Apr; 52(4):628-41.
Score: 0.000
-
Effects of "jet lag" on hormonal patterns. II. Adaptation of melatonin circadian periodicity. J Clin Endocrinol Metab. 1981 Apr; 52(4):642-9.
Score: 0.000
-
Thyroid function in a uremic rat model. Evidence suggesting tissue hypothyroidism. J Clin Invest. 1980 Nov; 66(5):946-54.
Score: 0.000
-
Circadian and ultradian variations of ACTH and cortisol secretion. Horm Res. 1980; 13(4-5):302-16.
Score: 0.000
-
Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral tissue resistance to thyroid hormone action. J Clin Endocrinol Metab. 1978 Dec; 47(6):1266-72.
Score: 0.000
-
Nuclear receptors for thyroid hormone. J Endocrinol Invest. 1978 Jan; 1(1):79-88.
Score: 0.000
-
Serum albumin and antibodies in the diagnosis of thyroid cancer. J Clin Endocrinol Metab. 1977 Dec; 45(6):1220-3.
Score: 0.000
-
Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase. Clin Endocrinol (Oxf). 1977 Jan; 6(1):27-39.
Score: 0.000
-
Carcinoembryonic antigen and humoral antibody response in patients with thyroid carcinoma. Cancer Res. 1975 Oct; 35(10):2689-92.
Score: 0.000
-
Differentiation of two abnormalities in thyroid peroxidase causing organification defect and goitrous hypothyroidism. Metabolism. 1975 Jan; 24(1):57-67.
Score: 0.000
-
Abnormal thyroxine metabolism in hyposomatotrophic dwarfism and inhibition of responsiveness to TRH during GH therapy. Pediatrics. 1973 Apr; 51(4):668-74.
Score: 0.000
-
Peroxidase defect in congenital goiter with complete organification block. J Clin Endocrinol Metab. 1973 Feb; 36(2):347-57.
Score: 0.000
-
Suppression of serum thyrotropin (TSH) by L-dopa in chronic hypothyroidism: interrelationships in the regulation of TSH and prolactin secretion. J Clin Endocrinol Metab. 1973 Feb; 36(2):256-62.
Score: 0.000
-
The computer in the diagnosis of thyroid disease. J Nucl Med. 1971 Sep; 12(9):620-4.
Score: 0.000
-
Serum tests for measurement of thyroid function. Hormones. 1971; 2(5):266-79.
Score: 0.000
-
Thyroid hormone relationships between maternal and fetal circulations in human pregnancy at term: a study in patients with normal and abnormal thyroid function. Am J Obstet Gynecol. 1970 Dec 15; 108(8):1269-76.
Score: 0.000
-
T3 thyrotoxicosis. Thyrotoxicosis due to elevated serum triiodothyronine levels. JAMA. 1970 Jul 27; 213(4):571-5.
Score: 0.000
-
Parameters of thyroid function in maternal and cord serum at term pregnancy. J Clin Endocrinol Metab. 1969 Sep; 29(9):1276-80.
Score: 0.000
-
A rapid radioimmunoassay for human placental lactogen. Application to normal and pathologic pregnancies. Am J Obstet Gynecol. 1968 Aug 01; 101(7):874-85.
Score: 0.000
-
Immunoreactive growth hormone in endemic cretins in Ecuador. Lancet. 1968 May 04; 1(7549):937-40.
Score: 0.000