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Dumitrescu, Alexandra M.
One or more keywords matched the following items that are connected to Dumitrescu, Alexandra M.
Item TypeName
Concept Thyroid Hormones
Academic Article 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.
Academic Article Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Academic Article Novel biological and clinical aspects of thyroid hormone metabolism.
Academic Article Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
Academic Article Thyroid hormone responsive genes in cultured human fibroblasts.
Academic Article X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
Academic Article The syndrome of inherited partial SBP2 deficiency in humans.
Academic Article A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta.
Academic Article Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.
Academic Article Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
Academic Article Inherited defects of thyroid hormone metabolism.
Academic Article Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
Academic Article 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.
Academic Article The syndromes of reduced sensitivity to thyroid hormone.
Academic Article Changes in thyroid status during perinatal development of MCT8-deficient male mice.
Academic Article Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice.
Academic Article Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.
Academic Article Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings.
Academic Article Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
Academic Article Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
Academic Article The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.
Academic Article Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice.
Academic Article Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.
Academic Article An Essential Physiological Role for MCT8 in Bone in Male Mice.
Academic Article Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency.
Academic Article Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Academic Article Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line.
Academic Article Paradigms of Dynamic Control of Thyroid Hormone Signaling.
Academic Article Role of the Thyroid Gland in Expression of the Thyroid Phenotype of Sbp2-Deficient Mice.
Academic Article Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
Academic Article Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.
Academic Article Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Academic Article Effect of the Fetal THRB Genotype on the Placenta.
Academic Article Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
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  • Thyroid Hormones