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One or more keywords matched the following items that are connected to Refetoff, Samuel
Item TypeName
Concept Heterozygote
Academic Article Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene.
Academic Article Thyroid function in mice with compound heterozygous and homozygous disruptions of SRC-1 and TIF-2 coactivators: evidence for haploinsufficiency.
Academic Article Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.
Academic Article Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes.
Academic Article Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Academic Article Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.
Academic Article A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
Academic Article Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone.
Academic Article Elevated serum thyroglobulin level in congenital thyroxine-binding globulin deficiency.
Academic Article Dominant role of thyrotropin-releasing hormone in the hypothalamic-pituitary-thyroid axis.
Academic Article Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female.
Academic Article Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred.
Academic Article TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.
Academic Article Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
Academic Article Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).
Academic Article Reduced affinity for thyroxine in two of three structural thyroxine-binding prealbumin variants associated with familial amyloidotic polyneuropathy.
Academic Article A study on the inheritance of thyroxine-binding globulin (TBG) deficiency from data obtained in 13 families detected by a neonatal screening program.
Academic Article Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus.
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 Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.
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  • Heterozygote