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Refetoff, Samuel

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

Item Type	Name
Concept	Consanguinity
Academic Article	Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
Academic Article	The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.
Academic Article	Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.
Academic Article	Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
Academic Article	Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
Academic Article	A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies.
Academic Article	A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.

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Consanguinity