Samuel Refetoff to Adult
This is a "connection" page, showing publications Samuel Refetoff has written about Adult.
Connection Strength
0.852
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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: 0.047
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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: 0.045
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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: 0.032
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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: 0.028
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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: 0.024
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The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20.
Score: 0.023
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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: 0.021
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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: 0.021
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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: 0.020
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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: 0.020
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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: 0.018
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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: 0.018
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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: 0.017
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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52.
Score: 0.017
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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: 0.016
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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: 0.016
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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: 0.016
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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: 0.015
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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: 0.015
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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: 0.014
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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: 0.013
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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: 0.012
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Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta. Thyroid. 2021 07; 31(7):1127-1134.
Score: 0.012
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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: 0.011
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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: 0.011
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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: 0.011
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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight. 2018 10 18; 3(20).
Score: 0.010
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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: 0.010
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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: 0.010
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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: 0.010
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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: 0.010
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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: 0.009
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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: 0.009
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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: 0.009
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A new TRß mutation in resistance to thyroid hormone syndrome. Hormones (Athens). 2016 Oct; 15(4):534-539.
Score: 0.009
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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: 0.009
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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: 0.009
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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.008
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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: 0.008
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Resistance to thyroid hormone. Curr Ther Endocrinol Metab. 1994; 5:117-9.
Score: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.007
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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: 0.006
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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: 0.006
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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: 0.005
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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.
Score: 0.005
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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: 0.005
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Inherited heat-stable variant thyroxine-binding globulin (TBG-Chicago). J Clin Endocrinol Metab. 1986 Nov; 63(5):1140-4.
Score: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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X-chromosome-linked inheritance of the variant thyroxine-binding globulin in Australian aborigines. J Clin Endocrinol Metab. 1985 Feb; 60(2):356-60.
Score: 0.004
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Fetal loss associated with excess thyroid hormone exposure. JAMA. 2004 Aug 11; 292(6):691-5.
Score: 0.004
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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: 0.004
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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: 0.004
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The value of serum thyroglobulin measurement in clinical practice. JAMA. 1983 Nov 04; 250(17):2352-7.
Score: 0.004
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Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein. Clin Endocrinol (Oxf). 2003 Oct; 59(4):500-6.
Score: 0.004
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Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency. J Clin Endocrinol Metab. 1983 Sep; 57(3):665-7.
Score: 0.004
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Retrospective and prospective study of radiation-induced thyroid disease. Am J Med. 1983 May; 74(5):852-62.
Score: 0.004
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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: 0.003
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Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female. J Endocrinol Invest. 1980 Oct-Dec; 3(4):349-52.
Score: 0.003
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Transient elevation of serum thyroid hormone concentration after initiation of replacement therapy in myxedema. Ann Intern Med. 1980 Apr; 92(4):491-5.
Score: 0.003
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Postirradiation screening for thyroid nodules. JAMA. 1980 Mar 21; 243(11):1131-2.
Score: 0.003
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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: 0.003
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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: 0.003
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Heterogeneous human prolactin from a giant pituitary tumor in a patient with panhypopituitarism. J Clin Endocrinol Metab. 1978 Oct; 47(4):780-7.
Score: 0.003
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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: 0.002
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Graves' disease associated with familial deficiency of thyroxine-binding globulin. J Clin Endocrinol Metab. 1977 Feb; 44(2):242-7.
Score: 0.002
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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: 0.002
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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: 0.002
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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: 0.002
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Effects of aging on glucose regulation during wakefulness and sleep. Am J Physiol. 1995 Dec; 269(6 Pt 1):E1006-16.
Score: 0.002
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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: 0.002
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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: 0.002
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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: 0.002
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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: 0.002
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Hyperthyroidism and adult celiac disease. Am J Gastroenterol. 1973 Oct; 60(4):387-93.
Score: 0.002
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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: 0.002
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Chiari-Frommel syndrome in a patient with primary adrenocortical insufficiency. N Engl J Med. 1972 Dec 28; 287(26):1326-8.
Score: 0.002
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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: 0.002
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Pseudomalabsorption of levothyroxine. JAMA. 1991 Oct 16; 266(15):2118-20.
Score: 0.002
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Modulation of glucose regulation and insulin secretion by circadian rhythmicity and sleep. J Clin Invest. 1991 Sep; 88(3):934-42.
Score: 0.002
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Disappearance rate of endogenous and exogenous human growth hormone in man. J Clin Endocrinol Metab. 1970 Mar; 30(3):386-92.
Score: 0.001
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Endemic goiter with hypothyroidism in three generations. J Clin Endocrinol Metab. 1969 Dec; 29(12):1596-600.
Score: 0.001
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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
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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
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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
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Radioimmunoassay of anterior pituitary hormones. Radiol Clin North Am. 1967 Aug; 5(2):317-31.
Score: 0.001
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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
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Thyroid hormone inhibits fibronectin synthesis by cultured human skin fibroblasts. J Clin Endocrinol Metab. 1987 Feb; 64(2):334-9.
Score: 0.001
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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
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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
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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: 0.001
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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: 0.001
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The influence of percutaneous fine needle aspiration on serum thyroglobulin. J Clin Endocrinol Metab. 1983 Jan; 56(1):26-9.
Score: 0.001
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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: 0.001
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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: 0.001
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Quantitative analysis of spontaneous variations of plasma prolactin in normal man. Am J Physiol. 1981 Nov; 241(5):E355-63.
Score: 0.001
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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: 0.001
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Effects of "jet lag" on hormonal patterns. II. Adaptation of melatonin circadian periodicity. J Clin Endocrinol Metab. 1981 Apr; 52(4):642-9.
Score: 0.001
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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: 0.001
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Serum albumin and antibodies in the diagnosis of thyroid cancer. J Clin Endocrinol Metab. 1977 Dec; 45(6):1220-3.
Score: 0.001
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Differentiation of two abnormalities in thyroid peroxidase causing organification defect and goitrous hypothyroidism. Metabolism. 1975 Jan; 24(1):57-67.
Score: 0.000
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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
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T3 thyrotoxicosis. Thyrotoxicosis due to elevated serum triiodothyronine levels. JAMA. 1970 Jul 27; 213(4):571-5.
Score: 0.000
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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
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Immunoreactive growth hormone in endemic cretins in Ecuador. Lancet. 1968 May 04; 1(7549):937-40.
Score: 0.000