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Refetoff, Samuel
One or more keywords matched the following items that are connected to
Refetoff, Samuel
Item Type
Name
Concept
Homozygote
Academic Article
Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
Academic Article
Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene.
Academic Article
Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.
Academic Article
Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone.
Academic Article
Thyroid function in mice with compound heterozygous and homozygous disruptions of SRC-1 and TIF-2 coactivators: evidence for haploinsufficiency.
Academic Article
Diverse abnormalities of the c-erbA beta thyroid hormone receptor gene in generalized thyroid hormone resistance.
Academic Article
Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes.
Academic Article
Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo.
Academic Article
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Academic Article
Preferential megalin-mediated transcytosis of low-hormonogenic thyroglobulin: a control mechanism for thyroid hormone release.
Academic Article
Homozygous thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
Academic Article
Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female.
Academic Article
TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.
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
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
Academic Article
Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
Academic Article
A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.
Academic Article
Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Academic Article
Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.
Academic Article
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Search Criteria
Homozygote