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Weiss, Roy Emanuel

One or more keywords matched the following items that are connected to Weiss, Roy Emanuel

Item Type	Name
Concept	Pedigree
Academic Article	Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C).
Academic Article	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.
Academic Article	A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.
Academic Article	Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH).
Academic Article	A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone.
Academic Article	Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
Academic Article	Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
Academic Article	A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH).
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	Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee).
Academic Article	Resistance to thyroid hormone does not abrogate the transient thyrotoxicosis associated with gestation: report of a case.
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	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.
Academic Article	Familial dysalbuminemic hyperthyroxinemia: a rare example of albumin polymorphism and its rapid molecular diagnosis.
Academic Article	Fetal loss associated with excess thyroid hormone exposure.
Academic Article	A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.
Academic Article	Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.
Academic Article	Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
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	The syndrome of inherited partial SBP2 deficiency in humans.
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 syndromes of resistance to thyroid hormone.
Academic Article	Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
Academic Article	A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
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	Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.
Academic Article	An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.
Academic Article	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.
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	Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene.
Academic Article	A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone.
Academic Article	Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family.
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	A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.
Academic Article	Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.
Academic Article	A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.
Academic Article	Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Academic Article	A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.
Academic Article	A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism.
Academic Article	Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
Academic Article	Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
Academic Article	Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

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