Alexandra M. Dumitrescu, Ph.D.
Affiliations: | 2005 | University of Chicago, Chicago, IL |
Area:
Genetics, Human Development, Neuroscience BiologyGoogle:
"Alexandra Dumitrescu"Mean distance: 53433
Parents
Sign in to add mentor| Samuel Refetoff | grad student | 2005 | Chicago | |
| (Identification of inherited defects in thyroid hormone transport and metabolism.) | ||||
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Publications
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| Salas-Lucia F, Escamilla S, Bianco AC, et al. (2024) Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie the Allan-Herndon-Dudley syndrome. Jci Insight |
| Salas-Lucia F, Liao XH, Jiang H, et al. (2023) The Relationship Between Fetal Genotype and Maternal Thyroid Function. Thyroid : Official Journal of the American Thyroid Association. 33: 1255-1258 |
| Salas-Lucia F, Stan MN, James H, et al. (2023) Effect of the Fetal THRB Genotype on the Placenta. The Journal of Clinical Endocrinology and Metabolism |
| Ebrhim RS, Furman AE, Watanabe Y, et al. (2023) Congenital Hypothyroidism in Two Sudanese Families harboring a novel Iodotyrosine deiodinase mutation (IYD R279C). Thyroid : Official Journal of the American Thyroid Association |
| Franca MM, Reeve L, Dumitrescu AM, et al. (2022) A novel pathogenic variant in PAX8 leads to familial congenital hypothyroidism. Thyroid : Official Journal of the American Thyroid Association |
| Liao XH, Avalos P, Shelest O, et al. (2022) AAV9-MCT8 delivery at juvenile stage ameliorates neurological and behavioral deficits in a mouse model of MCT8-deficiency. Thyroid : Official Journal of the American Thyroid Association |
| Salas-Lucia F, França MM, Amrhein JA, et al. (2022) Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid : Official Journal of the American Thyroid Association. 32: 336-339 |
| Furman AE, Hannoush Z, Barrera Echegoyen FX, et al. (2021) Novel DIO1 gene mutation acting as phenotype modifier for novel compound heterozygous TPO gene mutations causing congenital hypothyroidism. Thyroid : Official Journal of the American Thyroid Association |
| Furman AE, Dumitrescu AM, Refetoff S, et al. (2020) Early diagnosis and treatment of an infant with a novel THRA gene (pC380SfsX9) mutation. Thyroid : Official Journal of the American Thyroid Association |
| Refetoff S, Pappa T, Williams MK, et al. (2020) Prenatal treatment of thyroid hormone cell membrane transport defect caused by MCT8 gene mutation. Thyroid : Official Journal of the American Thyroid Association |