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Dumitrescu, Alexandra

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

Item Type	Name
Concept	Phenotype
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	Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
Academic Article	The syndrome of inherited partial SBP2 deficiency in humans.
Academic Article	The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
Academic Article	Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes.
Academic Article	Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
Academic Article	The syndromes of reduced sensitivity to thyroid hormone.
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	Dpp and Hh signaling in the Drosophila embryonic eye field.
Academic Article	[Blast study in acute leukemia using monoclonal antibodies].
Academic Article	An Essential Physiological Role for MCT8 in Bone in Male Mice.
Academic Article	Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
Academic Article	Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line.
Academic Article	Role of the Thyroid Gland in Expression of the Thyroid Phenotype of Sbp2-Deficient Mice.
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	Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.
Academic Article	Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Grant	Mouse Sbp2 deficiency models the multi-system syndrome of human SBP2 defects
Grant	The pathophysiology of SBP2 abnormalities

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