Alexandra M. Dumitrescu, Ph.D.

Affiliations: 
2005 University of Chicago, Chicago, IL 
Area:
Genetics, Human Development, Neuroscience Biology
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"Alexandra Dumitrescu"
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Parents

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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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Watanabe Y, Bruellman RJ, Ebrhim RS, et al. (2018) Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid : Official Journal of the American Thyroid Association
Çatli G, Fujisawa H, Kırbıyık Ö, et al. (2018) A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy. Thyroid : Official Journal of the American Thyroid Association
Mimoto MS, Karaca A, Scherberg N, et al. (2018) Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid : Official Journal of the American Thyroid Association
Fu J, Fujisawa H, Follman B, et al. (2017) Thyroid hormone metabolism defects in a mouse model of SBP2 deficiency. Endocrinology
Pappa T, Anselmo J, Mamanasiri S, et al. (2017) Prenatal diagnosis of resistance to thyroid hormone and its clinical implications. The Journal of Clinical Endocrinology and Metabolism
Srichomkwun P, Anselmo J, Liao XH, et al. (2017) Fetal exposure to high maternal thyroid hormone (TH) levels causes central resistance to TH in adult humans and mice. The Journal of Clinical Endocrinology and Metabolism
Iwayama H, Liao XH, Braun L, et al. (2016) Adeno associated virus 9-based gene therapy delivers a functional monocarboxylate transporter 8 (MCT8) which improves thyroid hormone availability to brain of Mct8 deficient mice. Thyroid : Official Journal of the American Thyroid Association
Ferrara AM, Liao XH, Ye H, et al. (2015) The thyroid hormone analogue DITPA ameliorates metabolic parameters of male mice with Mct8 deficiency. Endocrinology. en20151234
Ferrara AM, Pappa T, Fu J, et al. (2015) A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. The Journal of Clinical Endocrinology and Metabolism. 100: E173-81
Larsen CC, Karaviti LP, Seghers V, et al. (2014) A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. International Journal of Pediatric Endocrinology. 2014: 23
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