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Concept
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Pedigree
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Academic Article
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Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C).
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Academic Article
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Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.
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Academic Article
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A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.
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Academic Article
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Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH).
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Academic Article
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A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone.
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Academic Article
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Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
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Academic Article
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Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
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Academic Article
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A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH).
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Academic Article
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Evaluation of pituitary and peripheral tissue markers of thyroid hormone action in an Iranian family with resistance to thyroid hormone.
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Academic Article
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Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine.
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Academic Article
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Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
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Academic Article
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Identification of thyroxine-binding globulin-San Diego in a family from Houston and its characterization by in vitro expression using Xenopus oocytes.
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Academic Article
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Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.
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Academic Article
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Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee).
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Academic Article
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Resistance to thyroid hormone does not abrogate the transient thyrotoxicosis associated with gestation: report of a case.
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Academic Article
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The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.
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Academic Article
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Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene.
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Academic Article
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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.
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Academic Article
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Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.
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Academic Article
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A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
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Academic Article
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Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene.
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Academic Article
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Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide.
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Academic Article
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Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
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Academic Article
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Fetal loss associated with excess thyroid hormone exposure.
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Academic Article
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A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.
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Academic Article
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A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child.
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Academic Article
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Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.
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Academic Article
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Identification of a serum protein polymorphism via two-dimensional electrophoresis. Family and population studies in two genetically isolated groups: North American Hutterites and Australian aborigines.
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Academic Article
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Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.
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Academic Article
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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
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Academic Article
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Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions.
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Academic Article
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Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
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Academic Article
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Familial juvenile autoimmune hypothyroidism, pituitary enlargement, obesity, and insulin resistance.
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Academic Article
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Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess.
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Academic Article
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Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
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Academic Article
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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).
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Academic Article
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The syndrome of inherited partial SBP2 deficiency in humans.
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Academic Article
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A new inherited abnormality of thyroxine-binding globulin (TBG-San Diego) with decreased affinity for thyroxine and triiodothyronine.
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Academic Article
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A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule.
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Academic Article
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Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
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Academic Article
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Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
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Academic Article
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Homozygous thyroid hormone receptor ß-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
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Academic Article
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Inherited thyroxine-binding globulin abnormalities in man.
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Academic Article
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Two new inherited defects of the thyroxine-binding globulin (TBG) molecule presenting as partial TBG deficiency.
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Academic Article
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Graves' disease associated with familial deficiency of thyroxine-binding globulin.
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Academic Article
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Resistance to thyroid hormone in a patient with thyroid dysgenesis.
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Academic Article
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The syndromes of resistance to thyroid hormone.
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Academic Article
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The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
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Academic Article
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Inherited X chromosome linked thyroxine-binding globulin (TBG) deficiency in a homozygous female.
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Academic Article
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Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
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Academic Article
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A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
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Academic Article
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Endemic goiter with hypothyroidism in three generations.
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Academic Article
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Familial thyroxine-binding globulin deficiency in a patient with Turner's syndrome (XO). Genetic study of a kindred.
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Academic Article
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TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.
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Academic Article
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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.
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Academic Article
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Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
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Academic Article
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Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase.
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Academic Article
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Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.
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Academic Article
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An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.
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Academic Article
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A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant.
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Academic Article
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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.
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Academic Article
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Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
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Academic Article
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Mutation in the thyroid hormone receptor beta gene (A317T) in a Thai subject with resistance to thyroid hormone.
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Academic Article
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Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine.
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Academic Article
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Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
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Academic Article
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Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene.
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Academic Article
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Familial dysalbuminemic hypertriiodothyroninemia: a new, dominantly inherited albumin defect.
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Academic Article
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A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone.
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Academic Article
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Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
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Academic Article
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Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family.
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Academic Article
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Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).
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Academic Article
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A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.
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Academic Article
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Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
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Academic Article
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Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.
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Academic Article
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Metabolism of thyroxine-binding globulin in man. Abnormal rate of synthesis in inherited thyroxine-binding globulin deficiency and excess.
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Academic Article
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A study on the inheritance of thyroxine-binding globulin (TBG) deficiency from data obtained in 13 families detected by a neonatal screening program.
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Academic Article
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Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus.
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Academic Article
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Polymorphism of a variant human thyrotropin receptor (hTSHR) gene.
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Academic Article
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A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies.
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Academic Article
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Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.
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Academic Article
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A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
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Academic Article
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Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading.
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Academic Article
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Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.
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Academic Article
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A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.
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Academic Article
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A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.
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Academic Article
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DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
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Academic Article
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A new TRß mutation in resistance to thyroid hormone syndrome.
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Academic Article
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Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
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Academic Article
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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.
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Academic Article
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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
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Academic Article
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Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
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Academic Article
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Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
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