Samuel Refetoff to Humans
This is a "connection" page, showing publications Samuel Refetoff has written about Humans.
Connection Strength
1.786
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Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients. Thyroid. 2024 Nov; 34(11):1435-1443.
Score: 0.031
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STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179. Nat Genet. 2024 May; 56(5):877-888.
Score: 0.031
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Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome. JCI Insight. 2024 Feb 20; 9(7).
Score: 0.030
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Effect of the Fetal THRB Genotype on the Placenta. J Clin Endocrinol Metab. 2023 09 18; 108(10):e944-e948.
Score: 0.029
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Increased cardiovascular morbidity and mortality in patients with resistance to thyroid hormone. Lancet Diabetes Endocrinol. 2023 09; 11(9):628-629.
Score: 0.029
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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: 0.025
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Resistance to Thyroid Hormone Beta: A Focused Review. Front Endocrinol (Lausanne). 2021; 12:656551.
Score: 0.025
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Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation. Thyroid. 2021 05; 31(5):713-720.
Score: 0.024
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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: 0.023
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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: 0.023
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Interconnection between circadian clocks and thyroid function. Nat Rev Endocrinol. 2019 10; 15(10):590-600.
Score: 0.022
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Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations. J Endocrinol Invest. 2020 Jan; 43(1):31-41.
Score: 0.022
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Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid. 2018 06; 28(6):811-814.
Score: 0.020
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13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action. Thyroid. 2018 06; 28(6):690-691.
Score: 0.020
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Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHß). Methods Mol Biol. 2018; 1801:225-240.
Score: 0.020
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Resistance to thyrotropin. Best Pract Res Clin Endocrinol Metab. 2017 03; 31(2):183-194.
Score: 0.019
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DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. Thyroid. 2017 01; 27(1):129-131.
Score: 0.018
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Inherited defects of thyroxine-binding proteins. Best Pract Res Clin Endocrinol Metab. 2015 Oct; 29(5):735-47.
Score: 0.017
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The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency. Endocrinology. 2015 Nov; 156(11):3889-94.
Score: 0.017
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A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid. 2015 Aug; 25(8):869-76.
Score: 0.016
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Long-term outcome of loss-of-function mutations in thyrotropin receptor gene. Thyroid. 2015 Mar; 25(3):292-9.
Score: 0.016
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A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81.
Score: 0.016
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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: 0.015
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Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid. 2014 Mar; 24(3):407-9.
Score: 0.015
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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: 0.015
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Coexistence of THRB and TBG gene mutations in a Turkish family. J Clin Endocrinol Metab. 2013 Jun; 98(6):E1148-51.
Score: 0.014
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Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab. 2012 Dec; 97(12):4515-23.
Score: 0.014
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The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013 Jul; 1830(7):3987-4003.
Score: 0.014
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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: 0.013
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Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. Thyroid. 2012 Mar; 22(3):252-7.
Score: 0.013
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Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr. 2011 Aug; 23(4):421-8.
Score: 0.013
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Inherited defects of thyroid hormone metabolism. Ann Endocrinol (Paris). 2011 Apr; 72(2):95-8.
Score: 0.012
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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: 0.012
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Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010 Jul; 95(7):3094-102.
Score: 0.012
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The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
Score: 0.011
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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: 0.011
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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
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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
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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: 0.010
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Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene. J Pediatr Endocrinol Metab. 2008 May; 21(5):479-86.
Score: 0.010
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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
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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
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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: 0.009
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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: 0.009
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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: 0.009
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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: 0.009
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Novel biological and clinical aspects of thyroid hormone metabolism. Endocr Dev. 2007; 10:127-139.
Score: 0.009
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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
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Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology. 2006 Sep; 147(9):4036-43.
Score: 0.009
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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
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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52.
Score: 0.008
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Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. Hum Genet. 2005 Dec; 118(3-4):348-55.
Score: 0.008
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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: 0.008
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Resistance to thyroid hormone in a patient with thyroid dysgenesis. Thyroid. 2005 Jul; 15(7):730-3.
Score: 0.008
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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: 0.008
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Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family. J Endocrinol Invest. 2005 Apr; 28(4):379-83.
Score: 0.008
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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: 0.008
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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
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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
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Thyroid hormone responsive genes in cultured human fibroblasts. J Clin Endocrinol Metab. 2005 Feb; 90(2):936-43.
Score: 0.008
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2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action. Eur Thyroid J. 2024 Aug 01; 13(4).
Score: 0.008
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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
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Familial juvenile autoimmune hypothyroidism, pituitary enlargement, obesity, and insulin resistance. Thyroid. 2004 Apr; 14(4):311-9.
Score: 0.008
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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
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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: 0.007
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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: 0.007
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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: 0.007
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The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function. Thyroid. 2023 10; 33(10):1255-1258.
Score: 0.007
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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: 0.007
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The syndrome of resistance to thyroid stimulating hormone. J Chin Med Assoc. 2003 Aug; 66(8):441-52.
Score: 0.007
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Resistance to thyrotropin. J Endocrinol Invest. 2003 Aug; 26(8):770-9.
Score: 0.007
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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: 0.007
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Perturbation of endoplasmic reticulum proteostasis triggers tissue injury in the thyroid gland. JCI Insight. 2023 06 22; 8(12).
Score: 0.007
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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: 0.007
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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: 0.007
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Resistance to thyroid hormone with and without receptor gene mutations. Ann Endocrinol (Paris). 2003 Feb; 64(1):23-5.
Score: 0.007
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Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid. 2023 02; 33(2):261-266.
Score: 0.007
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Transplantable human thyroid organoids generated from embryonic stem cells to rescue hypothyroidism. Nat Commun. 2022 11 17; 13(1):7057.
Score: 0.007
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A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002.
Score: 0.007
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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
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Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid. 2022 03; 32(3):336-339.
Score: 0.007
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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
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Characterization of T(4)-binding globulin cleaved by human leukocyte elastase. J Clin Endocrinol Metab. 2002 Mar; 87(3):1217-22.
Score: 0.007
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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
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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: 0.006
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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: 0.006
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Three novel mutations causing complete T(4)-binding globulin deficiency. J Clin Endocrinol Metab. 2001 Oct; 86(10):5039-44.
Score: 0.006
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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: 0.006
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Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid. 2021 07; 31(7):1127-1134.
Score: 0.006
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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
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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
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Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207.
Score: 0.006
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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
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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
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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
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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
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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
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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
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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
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Resistance to thyroid hormone. Rev Endocr Metab Disord. 2000 Jan; 1(1-2):97-108.
Score: 0.006
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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
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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
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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
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Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line. Thyroid. 2019 06; 29(6):778-782.
Score: 0.005
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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: 0.005
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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: 0.005
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Treatment of resistance to thyroid hormone--primum non nocere. J Clin Endocrinol Metab. 1999 Feb; 84(2):401-4.
Score: 0.005
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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
Score: 0.005
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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight. 2018 10 18; 3(20).
Score: 0.005
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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: 0.005
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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
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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
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Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect. J Clin Endocrinol Metab. 1998 May; 83(5):1448-54.
Score: 0.005
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature. Endocrinology. 2017 07 01; 158(7):2052-2057.
Score: 0.005
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Probing the cause of thyroid dysgenesis. Thyroid. 1997 Jun; 7(3):325-6.
Score: 0.005
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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
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Thyroid dysfunction is not associated with alterations in serum leptin levels. Thyroid. 1997 Jun; 7(3):407-9.
Score: 0.005
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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
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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
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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
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Resistance to thyroid hormone. Curr Ther Endocrinol Metab. 1997; 6:132-4.
Score: 0.005
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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
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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
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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
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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
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A new TRß mutation in resistance to thyroid hormone syndrome. Hormones (Athens). 2016 Oct; 15(4):534-539.
Score: 0.005
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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: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. Endocrinology. 2016 Apr; 157(4):1363-71.
Score: 0.004
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Resistance to thyrotropin and other abnormalities of the thyrotropin receptor. Recent Prog Horm Res. 1996; 51:97-120; discussion 120-2.
Score: 0.004
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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: 0.004
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Thyroxine-binding globulin: organization of the gene and variants. Horm Res. 1996; 45(3-5):128-38.
Score: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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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
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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
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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
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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
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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.
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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.
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Thyroid hormone resistance. Annu Rev Med. 1992; 43:363-75.
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Molecular cloning and primary structure of rat thyroxine-binding globulin. Biochemistry. 1991 Jun 04; 30(22):5406-11.
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Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks. J Endocrinol Invest. 1990 Apr; 13(4):343-9.
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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.
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Relationship of oligosaccharide modification to the cause of serum thyroxine-binding globulin excess. J Clin Endocrinol Metab. 1988 May; 66(5):1037-43.
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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.
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The role of glycosylation in the molecular conformation and secretion of thyroxine-binding globulin. Endocrinology. 1986 Apr; 118(4):1614-21.
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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.
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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
-
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
-
Radioimmunoassay of anterior pituitary hormones. Radiol Clin North Am. 1967 Aug; 5(2):317-31.
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