Co-Authors
This is a "connection" page, showing publications co-authored by Samuel Refetoff and Roy Emanuel Weiss.
Connection Strength
9.848
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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: 0.375
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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: 0.245
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Thyroid function in mice with compound heterozygous and homozygous disruptions of SRC-1 and TIF-2 coactivators: evidence for haploinsufficiency. Endocrinology. 2002 Apr; 143(4):1554-7.
Score: 0.211
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Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes. J Endocrinol. 2002 Jan; 172(1):177-85.
Score: 0.208
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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: 0.201
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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: 0.201
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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: 0.193
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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: 0.190
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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: 0.185
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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: 0.182
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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: 0.181
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Resistance to thyroid hormone. Rev Endocr Metab Disord. 2000 Jan; 1(1-2):97-108.
Score: 0.181
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Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone. EMBO J. 1999 Apr 01; 18(7):1900-4.
Score: 0.172
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Treatment of resistance to thyroid hormone--primum non nocere. J Clin Endocrinol Metab. 1999 Feb; 84(2):401-4.
Score: 0.170
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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304.
Score: 0.168
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Thyroid Hormone Action on Liver, Heart, and Energy Expenditure in Thyroid Hormone Receptor ß-Deficient Mice* * Presented in part at the 69th Annual Meeting of the American Thyroid Association Meeting, November 14-17, 1996, San Diego, California. This study was supported in part by the National Institutes of Health Grant DK-17050 and the Seymour J. Abrams Thyroid Research Center; a grant from the Ministry of Health and Welfare, Japan (to H.S.); and Grant-in-Aid for Scientific Research (09671044) from the Ministry of Education, Science and Culture of Japan. Endocrinology. 1998 Dec 01; 139(12):4945-4952.
Score: 0.168
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Thyroid hormone action on liver, heart, and energy expenditure in thyroid hormone receptor beta-deficient mice. Endocrinology. 1998 Dec; 139(12):4945-52.
Score: 0.168
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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: 0.161
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Thyrotropin regulation by thyroid hormone in thyroid hormone receptor beta-deficient mice. Endocrinology. 1997 Sep; 138(9):3624-9.
Score: 0.154
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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: 0.151
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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: 0.148
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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: 0.146
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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: 0.146
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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: 0.144
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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: 0.144
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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: 0.143
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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: 0.134
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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: 0.128
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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: 0.128
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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: 0.123
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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: 0.122
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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: 0.121
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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: 0.121
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Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Eur Thyroid J. 2014 Mar; 3(1):7-9.
Score: 0.121
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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: 0.121
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Attention-deficit hyperactivity disorder and thyroid function. J Pediatr. 1993 Oct; 123(4):539-45.
Score: 0.117
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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: 0.115
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Multiple genetic factors in the heterogeneity of thyroid hormone resistance. J Clin Endocrinol Metab. 1993 Jan; 76(1):257-9.
Score: 0.111
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Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab. 2012 Dec; 97(12):4515-23.
Score: 0.109
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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: 0.105
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Thyroid hormone resistance. Annu Rev Med. 1992; 43:363-75.
Score: 0.104
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Role of type 2 deiodinase in response to acute lung injury (ALI) in mice. Proc Natl Acad Sci U S A. 2011 Dec 06; 108(49):E1321-9.
Score: 0.103
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Thyroid hormone receptor a and regulation of type 3 deiodinase. Mol Endocrinol. 2011 Apr; 25(4):575-83.
Score: 0.098
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Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes. Endocrinology. 2011 Mar; 152(3):1180-91.
Score: 0.098
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Neonatal detection of generalized resistance to thyroid hormone. JAMA. 1990 Nov 07; 264(17):2245-50.
Score: 0.096
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Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. J Clin Invest. 2010 Sep; 120(9):3377-88.
Score: 0.094
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The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
Score: 0.092
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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: 0.088
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A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology. 2009 Sep; 150(9):4450-8.
Score: 0.087
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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: 0.087
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In vivo interaction of steroid receptor coactivator (SRC)-1 and the activation function-2 domain of the thyroid hormone receptor (TR) beta in TRbeta E457A knock-in and SRC-1 knockout mice. Endocrinology. 2009 Aug; 150(8):3927-34.
Score: 0.086
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Effects of maternal levels of thyroid hormone (TH) on the hypothalamus-pituitary-thyroid set point: studies in TH receptor beta knockout mice. Endocrinology. 2007 Nov; 148(11):5305-12.
Score: 0.077
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Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats. Endocrinology. 2007 Oct; 148(10):4727-33.
Score: 0.076
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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: 0.071
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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: 0.070
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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.
Score: 0.069
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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52.
Score: 0.068
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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: 0.067
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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: 0.065
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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: 0.065
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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: 0.064
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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: 0.061
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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: 0.056
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Steroid Receptor Coactivator-1 Deficiency Causes Variable Alterations in the Modulation of T3-Regulated Transcription of Genes in Vivo. Endocrinology. 2002 Apr 01; 143(4):1346-1352.
Score: 0.053
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Steroid receptor coactivator-1 deficiency causes variable alterations in the modulation of T(3)-regulated transcription of genes in vivo. Endocrinology. 2002 Apr; 143(4):1346-52.
Score: 0.053
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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: 0.051
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Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha. Proc Natl Acad Sci U S A. 2001 Jan 02; 98(1):349-54.
Score: 0.048
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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: 0.048
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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: 0.047
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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: 0.045
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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: 0.045
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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: 0.045
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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: 0.045
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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: 0.043
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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: 0.041
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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: 0.040
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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: 0.040
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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: 0.040
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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: 0.039
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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: 0.039
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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: 0.039
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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: 0.038
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An Essential Physiological Role for MCT8 in Bone in Male Mice. Endocrinology. 2017 09 01; 158(9):3055-3066.
Score: 0.038
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Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice. Thyroid. 2016 09; 26(9):1311-9.
Score: 0.036
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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: 0.034
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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: 0.034
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A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. Int J Pediatr Endocrinol. 2014; 2014(1):23.
Score: 0.032
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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.
Score: 0.031
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Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice. Endocrinology. 2014 Oct; 155(10):4088-93.
Score: 0.031
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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: 0.030
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American Thyroid Association Guide to investigating thyroid hormone economy and action in rodent and cell models. Thyroid. 2014 Jan; 24(1):88-168.
Score: 0.030
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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: 0.029
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Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels. Endocrinology. 2013 Dec; 154(12):4885-95.
Score: 0.029
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Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation. Mol Endocrinol. 1993 Aug; 7(8):1049-60.
Score: 0.029
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The syndromes of resistance to thyroid hormone. Endocr Rev. 1993 Jun; 14(3):348-99.
Score: 0.029
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Changes in thyroid status during perinatal development of MCT8-deficient male mice. Endocrinology. 2013 Jul; 154(7):2533-41.
Score: 0.029
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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: 0.028
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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: 0.026
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Molecular basis of inherited thyroxine-binding globulin defects. Trends Endocrinol Metab. 1992 Mar; 3(2):49-53.
Score: 0.026
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Transsphenoidal surgery for Cushing disease: experience with 136 patients. Neurosurgery. 2012 Jan; 70(1):70-80; discussion 80-1.
Score: 0.026
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Autoimmunity in patients with resistance to thyroid hormone. J Clin Endocrinol Metab. 2010 Jul; 95(7):3189-93.
Score: 0.023
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Distinct and histone-specific modifications mediate positive versus negative transcriptional regulation of TSHalpha promoter. PLoS One. 2010 Mar 24; 5(3):e9853.
Score: 0.023
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A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism. Mol Endocrinol. 2008 Feb; 22(2):501-12.
Score: 0.019
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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: 0.017
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Fetal loss associated with excess thyroid hormone exposure. JAMA. 2004 Aug 11; 292(6):691-5.
Score: 0.016
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Effects of ligand and thyroid hormone receptor isoforms on hepatic gene expression profiles of thyroid hormone receptor knockout mice. EMBO Rep. 2003 Jun; 4(6):581-7.
Score: 0.014
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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: 0.014
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RXR receptor agonist suppression of thyroid function: central effects in the absence of thyroid hormone receptor. Am J Physiol Endocrinol Metab. 2002 Aug; 283(2):E326-31.
Score: 0.014
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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: 0.013
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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: 0.013
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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: 0.013
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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: 0.012
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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: 0.011
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The syndrome of resistance to thyroid hormone, misdiagnosed and treated as thyrotoxicosis. Endocr Pract. 1998 Nov-Dec; 4(6):391-5.
Score: 0.010