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Refetoff, Samuel

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

Item Type	Name
Concept	Genetic Linkage
Academic Article	Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
Academic Article	Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
Academic Article	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.
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	Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.
Academic Article	Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.
Academic Article	Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
Academic Article	Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.

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