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Refetoff, Samuel

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

Item Type	Name
Concept	Child, Preschool
Academic Article	Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I.
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	Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine.
Academic Article	Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.
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	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	A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
Academic Article	Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor.
Academic Article	Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
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	X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
Academic Article	Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T).
Academic Article	A new inherited abnormality of thyroxine-binding globulin (TBG-San Diego) with decreased affinity for thyroxine and triiodothyronine.
Academic Article	Homozygous thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
Academic Article	The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
Academic Article	Continuing occurrence of thyroid carcinoma after irradiation to the neck in infancy and childhood.
Academic Article	Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.
Academic Article	TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.
Academic Article	Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene.
Academic Article	Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.
Academic Article	Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
Academic Article	Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase.
Academic Article	Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.
Academic Article	White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
Academic Article	Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study.
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	Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: responses to thyrotropin-releasing hormone stimulation and short term triiodothyronine suppression.
Academic Article	Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors?
Academic Article	Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.
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	Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading.
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	A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals.
Academic Article	DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
Academic Article	Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Academic Article	Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Academic Article	Free Thyroxine Concentrations in Sera of Individuals with Familial Dysalbuminemic Hyperthyroxinemia: A Comparison of Three Methods of Measurement.
Academic Article	Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism.
Academic Article	Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
Academic Article	Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.
Academic Article	Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.

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Child Preschool