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Dumitrescu, Alexandra M.
One or more keywords matched the following items that are connected to
Dumitrescu, Alexandra M.
Item Type
Name
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.
Search Criteria
Thyroid Hormones