Alexandra M. Dumitrescu

University of Miami — United States

Medicine · Health Sciences

33h-index5.1kcitations122works6.12yr avg
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Research Topics

Thyroid Disorders and Treatments(85), Growth Hormone and Insulin-like Growth Factors(46), Genetics and Neurodevelopmental Disorders(21), Thyroid Cancer Diagnosis and Treatment(18), Neuroscience of respiration and sleep(10)

Publications122 total

Functional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism
The Journal of Clinical Endocrinology & Metabolism·2025· 1 citedOpen Access
Prevalence of pendrin defects in sudanese families with congenital hypothyroidism
Endocrine·2025Open Access
6398 Activating Mutations in a Primate-Specific Enhancer of MIR7-2/MIR1179 Are a Common Cause of Resistance to Thyrotropin
Journal of the Endocrine Society·2024Open Access
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency
Genetics in Medicine·2024· 8 citedOpen Access
Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients
Thyroid·2024· 2 citedOpen Access
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179
Nature Genetics·2024· 22 citedOpen Access
Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome
JCI Insight·2024· 16 citedOpen Access
P229: Non-coding variants create an enhancer cluster that causes resistance to thyrotropin via long-range interactions with a microRNA promoter
Genetics in Medicine Open·2024Open Access
OR14-03 The Thyroid Hormone Receptor Beta Genotype Of The Fetus Influences The Maternal Thyroid Function During Pregnancy
Journal of the Endocrine Society·2023Open Access
OR14-02 The Thyroid Hormone Analogs DITPA And TRIAC Triggered T3-signalling In Human MCT8-deficient Brain Organoids
Journal of the Endocrine Society·2023Open Access
The Relationship Between Fetal <i>THRB</i> Genotype and Maternal Thyroid Function
Thyroid·2023Open Access
Effect of the Fetal<i>THRB</i>Genotype on the Placenta
The Journal of Clinical Endocrinology & Metabolism·2023· 13 citedOpen Access
Year in Thyroidology: Basic Science
Thyroid·2022Open Access
Year in Thyroidology: Basic Science
VideoEndocrinology·2022
Graves’ disease and papillary thyroid carcinoma: case report and literature review of a single academic center
BMC Endocrine Disorders·2022· 16 citedOpen Access
A Novel Pathogenic Variant in <i>PAX8</i> Leads to Familial Congenital Hypothyroidism
Thyroid·2022· 1 citedOpen Access
AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency
Thyroid·2022· 22 citedOpen Access
AAV9-MCT8 delivery at juvenile stage ameliorates neurological and behavioral deficits in an Allan-Herndon-Dudley Syndrome mouse model
2021
Extended Absorption of Liothyronine from Poly-Zinc-Liothyronine: Results from a Phase 1, Double-Blind, Randomized, and Controlled Study in Humans
Thyroid·2021· 19 citedOpen Access
Novel <i>DIO1</i> Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous <i>TPO</i> Gene Mutations Causing Congenital Hypothyroidism
Thyroid·2021· 4 citedOpen Access
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Frequent Co-authors

Samuel Refetoff(44), Roy E. Weiss(25), Xiao-Hui Liao(14), Juan Bernal(9), Xiao-Hui Liao(6), Lars C. Moeller(6), Caterina Di Cosmo(6), Alfonso Massimiliano Ferrara(6), Θεοδώρα Παππά(4), Beatriz Morte(3), J. H. Duncan Bassett(3), Paolo Beck‐Peccoz(3), Gregory A. Brent(3), Krishna Chatterjee(3), Leslie J. De Groot(3), J. Larry Jameson(3), Peter Kopp(3), Yoshiharu Murata(3), Luca Persani(3), Jacques Samarut(3)