| Item Type | Name |
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Concept
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Chiari-Frommel Syndrome
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Concept
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Cushing Syndrome
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Concept
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Nerve Compression Syndromes
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Concept
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Nelson Syndrome
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Concept
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Syndrome
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Concept
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Turner Syndrome
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Concept
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Thyroid Hormone Resistance Syndrome
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Concept
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Jet Lag Syndrome
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Concept
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Polycystic Ovary Syndrome
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Concept
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Respiratory Distress Syndrome, Newborn
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Academic Article
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Neurocognitive characteristics of individuals with resistance to thyroid hormone: comparisons with individuals with attention-deficit hyperactivity disorder.
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Academic Article
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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).
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Academic Article
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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.
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Academic Article
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Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I.
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Academic Article
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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.
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Academic Article
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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.
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Academic Article
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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).
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Academic Article
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A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone.
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Academic Article
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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).
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Academic Article
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Evaluation of pituitary and peripheral tissue markers of thyroid hormone action in an Iranian family with resistance to thyroid hormone.
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Academic Article
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Effect of thyroid hormone on growth. Lessons from the syndrome of resistance to thyroid hormone.
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Academic Article
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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.
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Academic Article
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Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.
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Academic Article
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Resistance to thyroid hormone does not abrogate the transient thyrotoxicosis associated with gestation: report of a case.
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Academic Article
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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.
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Academic Article
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Thyroid hormone resistance.
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Academic Article
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Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene.
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Academic Article
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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.
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Academic Article
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Resistance to thyroid hormone with and without receptor gene mutations.
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Academic Article
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Diverse abnormalities of the c-erbA beta thyroid hormone receptor gene in generalized thyroid hormone resistance.
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Academic Article
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Resistance to thyrotropin.
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Academic Article
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A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
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Academic Article
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Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
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Academic Article
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The syndrome of resistance to thyroid hormone, misdiagnosed and treated as thyrotoxicosis.
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Academic Article
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Fetal loss associated with excess thyroid hormone exposure.
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Academic Article
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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.
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Academic Article
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Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.
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Academic Article
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Nuclear receptors for thyroid hormone.
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Academic Article
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Neonatal detection of generalized resistance to thyroid hormone.
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Academic Article
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Abnormalities of triiodothyronine binding to lymphocyte and fibroblast nuclei from a patient with peripheral tissue resistance to thyroid hormone action.
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Academic Article
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The syndrome of resistance to thyroid stimulating hormone.
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Academic Article
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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.
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Academic Article
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Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
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Academic Article
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Sleep deprivation in the rat: XI. The effect of guanethidine-induced sympathetic blockade on the sleep deprivation syndrome.
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Academic Article
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A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1).
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Academic Article
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Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess.
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Academic Article
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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).
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Academic Article
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The syndrome of inherited partial SBP2 deficiency in humans.
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Academic Article
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A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta.
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Academic Article
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Autoimmunity in patients with resistance to thyroid hormone.
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Academic Article
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The syndrome of generalized resistance to thyroid hormone (GRTH).
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Academic Article
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Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
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Academic Article
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Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.
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Academic Article
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Homozygous thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
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Academic Article
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Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone.
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Academic Article
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The effects of low doses of depot estradiol and testosterone in teenagers with ovarian failure and Turner's syndrome.
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Academic Article
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Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone.
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Academic Article
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Resistance to thyroid hormone in a patient with thyroid dysgenesis.
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Academic Article
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The syndromes of resistance to thyroid hormone.
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Academic Article
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Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome.
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Academic Article
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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.
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Academic Article
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Syndromes of thyroid hormone resistance.
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Academic Article
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Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
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Academic Article
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Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone.
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Academic Article
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Stanniocalcin 1 induction by thyroid hormone depends on thyroid hormone receptor ß and phosphatidylinositol 3-kinase activation.
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Academic Article
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Chiari-Frommel syndrome in a patient with primary adrenocortical insufficiency.
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Academic Article
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Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.
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Academic Article
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Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred.
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Academic Article
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How clinical observations of a congenital disease can be translated in terms of molecular biology.
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Academic Article
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Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.
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Academic Article
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Pretibial myxedema--a reversible cause of foot drop due to entrapment of the peroneal nerve.
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Academic Article
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Resistance to thyroid hormone and its molecular basis.
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Academic Article
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White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
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Academic Article
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Approach to the patient with resistance to thyroid hormone and pregnancy.
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Academic Article
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The effect of dexamethasone on the 24-hour profiles of adrenocorticotropin and cortisol in Cushing's syndrome.
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Academic Article
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Evidence for two subtypes of Cushing's disease based on the analysis of episodic cortisol secretion.
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Academic Article
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The consequences of inappropriate treatment because of failure to recognize the syndrome of pituitary and peripheral tissue resistance to thyroid hormone.
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Academic Article
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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.
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Academic Article
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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.
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Academic Article
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Resistance to thyroid hormone.
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Academic Article
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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.
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Academic Article
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Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.
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Academic Article
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Radioimmunoassay detection of endorphins from long-term culture of human pituitary tumour cells.
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Academic Article
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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?
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Academic Article
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Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.
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Academic Article
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The syndromes of reduced sensitivity to thyroid hormone.
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Academic Article
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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.
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Academic Article
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Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
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Academic Article
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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.
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Academic Article
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DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
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Academic Article
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A new TRß mutation in resistance to thyroid hormone syndrome.
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Academic Article
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Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.
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Academic Article
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Resistance to thyrotropin.
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Academic Article
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13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action.
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Academic Article
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Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.
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Academic Article
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Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHß).
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Academic Article
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Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
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Academic Article
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Interconnection between circadian clocks and thyroid function.
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Academic Article
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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.
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Academic Article
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Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation.
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Academic Article
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Increased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta.
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Academic Article
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Resistance to Thyroid Hormone Beta: A Focused Review.
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Academic Article
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Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
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Grant
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THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERS
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Grant
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Thyroid Physiology Studies of Inherited Disorders
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Grant
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STUDIES ON REGULATION AND MECHANISM OF HORMONE ACTION
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Academic Article
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Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
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