| Item Type | Name |
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Concept
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Animals, Newborn
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Concept
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Hearing Loss, Sensorineural
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Concept
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Mass Screening
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Concept
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Infant, Newborn
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Concept
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Kidney Failure, Chronic
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Concept
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Neonatal Screening
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Concept
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Respiratory Distress Syndrome, Newborn
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Concept
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Drug Screening Assays, Antitumor
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Concept
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Infant, Newborn, Diseases
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Academic Article
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Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
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Academic Article
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Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters.
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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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Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor.
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Academic Article
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Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
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Academic Article
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Three novel mutations causing complete T(4)-binding globulin deficiency.
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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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Neonatal detection of generalized resistance to thyroid hormone.
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Academic Article
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Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions.
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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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Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
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Academic Article
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Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine.
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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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Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
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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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A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
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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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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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Resistance to thyroid hormone in a patient with thyroid dysgenesis.
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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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Ontogenetic patterns of thyrotropin-releasing hormone-like material in rat hypothalamus, pancreas, and retina: selective effect of light deprivation.
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Academic Article
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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.
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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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Thyroid function in a uremic rat model. Evidence suggesting tissue hypothyroidism.
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Academic Article
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High prevalence of thyroxine-binding globulin deficiency among Bedouin infants in southern Israel.
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Academic Article
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The value of serum thyroglobulin measurement in clinical practice.
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Academic Article
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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.
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Academic Article
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Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
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Academic Article
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Radioimmunoassays specific for the tertiary and primary structures of thyroxine-binding globulin (TBG): measurement of denatured TBG in serum.
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Academic Article
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Postirradiation screening for thyroid nodules.
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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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Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.
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Academic Article
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Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
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Academic Article
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Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
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Academic Article
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Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice.
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Academic Article
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Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activation.
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Academic Article
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A study on the inheritance of thyroxine-binding globulin (TBG) deficiency from data obtained in 13 families detected by a neonatal screening program.
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Academic Article
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Neonatal hypothyroidism and goiter in one infant of each of two sets of twins due to maternal therapy with antithyroid drugs.
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Academic Article
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Growth hormone responses to thyroid hormone in the neonatal rat: resistance and anamnestic response.
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Academic Article
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Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.
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Academic Article
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Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice.
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Academic Article
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Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
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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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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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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.
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Academic Article
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Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
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Academic Article
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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.
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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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