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One or more keywords matched the following items that are connected to Dumitrescu, Alexandra M.
Item TypeName
Concept Alleles
Concept Amino Acid Sequence
Concept Base Sequence
Concept Molecular Sequence Data
Concept Nucleic Acid Conformation
Concept RNA Splice Sites
Concept Sequence Analysis, DNA
Concept Exome
Concept Oligonucleotide Array Sequence Analysis
Concept Molecular Structure
Concept Genes, erbA
Concept Genes, Insect
Concept Polymorphism, Single Nucleotide
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 Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
Academic Article Thyroid hormone responsive genes in cultured human fibroblasts.
Academic Article Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes.
Academic Article Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
Academic Article Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats.
Academic Article Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice.
Academic Article A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.
Academic Article A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.
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 Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
Academic Article Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
Academic Article Selenocysteine insertion sequence binding protein 2 (Sbp2) in the sex-specific regulation of selenoprotein gene expression in mouse pancreatic islets.
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  • Exome
  • sequencing