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Refetoff, Samuel

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

Item Type	Name
Academic Article	Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
Academic Article	Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.
Academic Article	Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.
Academic Article	A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism.
Academic Article	Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.
Academic Article	Generation of functional thyroid from embryonic stem cells.
Academic Article	Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.
Academic Article	A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals.
Academic Article	Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.
Academic Article	A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
Concept	PAX8 Transcription Factor

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PAX8 Transcription Factor