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Dumitrescu, Alexandra M.

One or more keywords matched the following items that are connected to Dumitrescu, Alexandra M.

Item Type	Name
Concept	Mutation
Concept	Point Mutation
Concept	Mutation, Missense
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	Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.
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	A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.
Academic Article	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.
Academic Article	Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Academic Article	Novel biological and clinical aspects of thyroid hormone metabolism.
Academic Article	Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
Academic Article	X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
Academic Article	The syndrome of inherited partial SBP2 deficiency in humans.
Academic Article	A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta.
Academic Article	Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
Academic Article	Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone.
Academic Article	The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
Academic Article	Inherited defects of thyroid hormone metabolism.
Academic Article	Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
Academic Article	Approach to the patient with resistance to thyroid hormone and pregnancy.
Academic Article	Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
Academic Article	A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.
Academic Article	The syndromes of reduced sensitivity to thyroid hormone.
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 new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.
Academic Article	A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction.
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	Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.
Academic Article	Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Academic Article	Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line.
Academic Article	Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene.
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	Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.
Academic Article	Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß.
Academic Article	Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.
Academic Article	Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.
Academic Article	Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
Academic Article	Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation.
Academic Article	Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.
Academic Article	Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Academic Article	AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
Academic Article	A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
Academic Article	Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).

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