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Refetoff, Samuel

One or more keywords matched the following items that are connected to Refetoff, Samuel

Item Type	Name
Concept	Genotype
Academic Article	A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH).
Academic Article	Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine.
Academic Article	Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
Academic Article	Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.
Academic Article	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.
Academic Article	Resistance to thyrotropin.
Academic Article	Effects of ligand and thyroid hormone receptor isoforms on hepatic gene expression profiles of thyroid hormone receptor knockout mice.
Academic Article	Fetal loss associated with excess thyroid hormone exposure.
Academic Article	Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.
Academic Article	The syndrome of resistance to thyroid stimulating hormone.
Academic Article	Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
Academic Article	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).
Academic Article	Autoimmunity in patients with resistance to thyroid hormone.
Academic Article	Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
Academic Article	Role of type 2 deiodinase in response to acute lung injury (ALI) in mice.
Academic Article	Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome.
Academic Article	Dominant role of thyrotropin-releasing hormone in the hypothalamic-pituitary-thyroid axis.
Academic Article	The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
Academic Article	A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
Academic Article	Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes.
Academic Article	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.
Academic Article	Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
Academic Article	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.
Academic Article	Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene.
Academic Article	Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.
Academic Article	A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone.
Academic Article	Polymorphism of a variant human thyrotropin receptor (hTSHR) gene.
Academic Article	DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
Academic Article	Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
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	Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
Academic Article	Effect of the Fetal THRB Genotype on the Placenta.
Academic Article	The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function.

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