AlexandraMDumitrescuMD

PubMed

• Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
  Federico Salas-Lucia, Sergio Escamilla, Alexandra Dumitrescu, Samuel Refetoff, Antonio C Bianco> ;JCI Insight. 2024 Feb 20
• Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
  Reham Shareef, Aryel Furman, Yui Watanabe, Ryan Bruellman, Mohammed A Abdullah, Alexandra M Dumitresu, Samuel Refetoff, Andrea Bertolini, Marco Borsò, Alessandro Saba,...> ;Thyroid. 2023 Feb 1
• Year in Thyroidology: Basic Science.
  Alexandra Dumitrescu> ;Thyroid. 2023 Jan 1
• 4 citations
  Graves' disease and papillary thyroid carcinoma: case report and literature review of a single academic center.
  Marilyn A Arosemena, Nicole A Cipriani, Alexandra M Dumitrescu> ;BMC Endocrine Disorders. 2022 Aug 9
• A Novel Pathogenic Variant inLeads to Familial Congenital Hypothyroidism.
  Monica Malheiros França, Lucy Reeve, Alexandra M Dumitrescu, Martin de Bock, Samuel Refetoff> ;Thyroid. 2022 Aug 1
• 12 citations
  AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
  Xiao-Hui Liao, Pablo Avalos, Oksana Shelest, Raz Ofan, Michael Shilo, Catherine Bresee, Shibi Likhite, Jean-Philippe Vit, Heike Heuer, Brian Kaspar, Kathrin Meyer, Ale...> ;Thyroid. 2022 Jul 1
• 3 citations
  Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
  Federico Salas-Lucia, Monica M França, James A Amrhein, J Elizabeth Weir, Alexandra M Dumitrescu, Samuel Refetoff> ;Thyroid. 2022 Mar 1
• 5 citations
  EXTENDED ABSORPTION OF LIOTHYRONINE FROM POLY-ZINC-LIOTHYRONINE (PZL): RESULTS FROM A PHASE 1, DOUBLE-BLIND, RANDOMIZED, AND CONTROLLED STUDY IN HUMANS.
  Alexandra M. Dumitrescu, Erin C. Hanlon, Marilyn Arosemena, Olga Duchon, Matthew D Ettleson, Mihai Giurcanu, Antonio C. Bianco> ;Thyroid. 2021 Oct 12
• 3 citations
  Dietary Selenium Deficiency Partially Mimics the Metabolic Effects of Arsenic.
  Christopher M Carmean, Mizuho S. Mimoto, Michael Landeche, Daniel Ruiz, Bijoy Chellan, Lidan Zhao, Margaret C Schulz, Alexandra M. Dumitrescu, Robert M. Sargis> ;Nutrients. 2021 Aug 23
• 2 citations
  Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism
  Aryel Furman, Zeina C. Hannoush, Francisco Barrera Echegoyen, Alexandra M. Dumitrescu, Samuel Refetoff, Roy E. Weiss> ;Thyroid. 2021 Jul 16
• 3 citations
  Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation
  Ary E. Furman, Alexandra M. Dumitrescu, Samuel Refetoff, Roy E. Weiss> ;Thyroid. 2021 Jun 8
• 1 citations
  Selenocysteine insertion sequence binding protein 2 (Sbp2) in the sex-specific regulation of selenoprotein gene expression in mouse pancreatic islets.
  Bijoy Chellan, Lidan Zhao, Michael Landeche, Christopher M Carmean, Alexandra M. Dumitrescu, Robert M. Sargis> ;Scientific Reports. 2020 Oct 29
• 24 citations
  Human type 1 Iodothyronine deiodinase (DIO1) mutations cause abnormal thyroid hormone metabolism.
  Monica M. França, Alina German, Gustavo W. Fernandes, Xiao Hui Liao, Antonio C. Bianco, Samuel Refetoff, Alexandra M. Dumitrescu> ;Thyroid. 2021 Feb 12
• 12 citations
  Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation
  Samuel Refetoff, Theodora Pappa, Meredith K. Williams, M. Gisele Matheus, Xiao Hui Liao, Karen Hansen, Lindsey Nicol, Melinda Pierce, Peter A. Blasco, Mandie Wiebers J...> ;Thyroid. 2021 May 3
• 4 citations
  Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism.
  Ryan J Bruellman, Yui Watanabe, Reham Shareef, Mohamed A. Abdullah, Alexandra M. Dumitrescu, Bernard S. Strauss, Samuel Refetoff, Roy E. Weiss> ;Thyroid. 2020 May 7
• 12 citations
  Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
  Ryan J Bruellman, Yui Watanabe, Reham S. Ebrhim, Matthew K Creech, Mohamed A. Abdullah, Alexandra M. Dumitrescu, Samuel Refetoff, Roy E. Weiss> ;The Journal of Clinical Endocrinology and Metabolism. 2020 May 1
• 1 citations
  Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland.
  Monica M. França, Robert L. Levine, Theodora Pappa, Sandra Ilaka-Chibuluzo, Gary D. Rothberger, Alexandra M. Dumitrescu, Samuel Refetoff> ;Thyroid. 2020 Feb 7
• 3 citations
  Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 variants.
  Jiao Fu, Manassawee Korwutthikulrangsri, Leigh Ramos-Platt, Tyler Mark Pierson, Xiao Hui Liao, Samuel Refetoff, Roy E. Weiss, Alexandra M. Dumitrescu> ;Thyroid. 2020 Mar 11
• 6 citations
  Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations
  Jiao Fu, Manassawee Korwutthikulrangsri, E. Nazli Gonc, Laura Sillers, Xiao Hui Liao, Ayfer Alikasifoglu, Nurgun Kandemir, Maria Belen Menucci, Kenneth D. Burman, Roy ...> ;The Journal of Clinical Endocrinology and Metabolism. 2020 Mar 1
• 5 citations
  A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance.
  Manassawee Korwutthikulrangsri, Chrysoula Dosiou, Alexandra M. Dumitrescu, Samuel Refetoff> ;European Thyroid Journal. 2019 Oct 30
• 4 citations
  Role of the Thyroid Gland in Expression of the Thyroid Phenotype of Sbp2-Deficient Mice.
  Haruki Fujisawa, Manassawee Korwutthikulrangsri, Jiao Fu, Xiao Hui Liao, Alexandra M. Dumitrescu> ;Endocrinology. 2020 May 1
• 6 citations
  Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene.
  Haruki Fujisawa, Julie Gagné, Alexandra M. Dumitrescu, Samuel Refetoff> ;Thyroid. 2019 Oct 15
• 127 citations
  Paradigms of Dynamic Control of Thyroid Hormone Signaling.
  Antonio C. Bianco, Alexandra M. Dumitrescu, Balázs Gereben, Miriam O. Ribeiro, Tatiana L. Fonseca, Gustavo W. Fernandes, Barbara M L C Bocco> ;Endocrine Reviews. 2019 Aug 1
• 18 citations
  Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
  Yui Watanabe, Ryan J Bruellman, Reham S. Ebrhim, Mohamed A. Abdullah, Alexandra M. Dumitrescu, Samuel Refetoff, Roy E. Weiss> ;Thyroid. 2019 Apr 26
• 20 citations
  Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line
  João Anselmo, Neal H. Scherberg, Alexandra M. Dumitrescu, Samuel Refetoff> ;Thyroid. 2019 Jun 3
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Lectures

• Novel Pathways of Thyroid Hormone Signaling and Metabolism 
  ENDO 2019 - New Orleans, LA - 3/24/2019

Other

• Reduced sensitivity to thyroid hormone 
  Dumitrescu AM, Weiss RE, Refetoff S
  http://www.uptodate.com/contents/reduced-sensitivity-to-thyroid-hormone
  UpToDate, Wolters Kluwer Health - 2012-05-30