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Alexandra M. Dumitrescu

TitleAssociate Professor
InstitutionUniversity of Chicago
AddressChicago IL 60637
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Salas-Lucia F, Escamilla S, Bianco AC, Dumitrescu A, Refetoff S. Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome. JCI Insight. 2024 Feb 20; 9(7). PMID: 38376950.
      Citations:    Fields:    
    2. Salas-Lucia F, Stan MN, James H, Rajwani A, Liao XH, Dumitrescu AM, Refetoff S. Effect of the Fetal THRB Genotype on the Placenta. J Clin Endocrinol Metab. 2023 09 18; 108(10):e944-e948. PMID: 37149816; PMCID: PMC10505537.
      Citations: 2     Fields:    Translation:Humans
    3. Salas-Lucia F, Liao XH, Jiang H, Dumitrescu AM, Refetoff S, Anselmo J. The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function. Thyroid. 2023 10; 33(10):1255-1258. PMID: 37597194; PMCID: PMC10611961.
      Citations:    Fields:    Translation:Humans
    4. Shareef R, Furman A, Watanabe Y, Bruellman R, Abdullah MA, Dumitresu AM, Refetoff S, Bertolini A, Saba A, Zucchi R, Weiss RE, Borsò M. Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C). Thyroid. 2023 02; 33(2):261-266. PMID: 36633921; PMCID: PMC9963472.
      Citations:    Fields:    Translation:Humans
    5. Dumitrescu A. Year in Thyroidology: Basic Science. Thyroid. 2023 01; 33(1):16-20. PMID: 36465054; PMCID: PMC9885535.
      Citations:    Fields:    Translation:Humans
    6. Arosemena MA, Cipriani NA, Dumitrescu AM. Graves' disease and papillary thyroid carcinoma: case report and literature review of a single academic center. BMC Endocr Disord. 2022 Aug 09; 22(1):199. PMID: 35945543; PMCID: PMC9361659.
      Citations: 3     Fields:    Translation:Humans
    7. Reeve L, Dumitrescu AM, de Bock M, Refetoff S, França MM. A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism. Thyroid. 2022 08; 32(8):1000-1002. PMID: 35611983; PMCID: PMC9419960.
      Citations:    Fields:    Translation:Humans
    8. Liao XH, Avalos P, Shelest O, Ofan R, Shilo M, Bresee C, Likhite S, Vit JP, Heuer H, Kaspar B, Meyer K, Dumitrescu AM, Refetoff S, Svendsen CN, Vatine GD. AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency. Thyroid. 2022 07; 32(7):849-859. PMID: 35350867; PMCID: PMC9469747.
      Citations: 3     Fields:    Translation:AnimalsCells
    9. Salas-Lucia F, Amrhein JA, Weir JE, Dumitrescu AM, Refetoff S, França MM. Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid. 2022 03; 32(3):336-339. PMID: 34969265; PMCID: PMC8971974.
      Citations: 5     Fields:    Translation:Humans
    10. Dumitrescu AM, Hanlon EC, Arosemena M, Duchon O, Ettleson M, Giurcanu M, Bianco AC. Extended Absorption of Liothyronine from Poly-Zinc-Liothyronine: Results from a Phase 1, Double-Blind, Randomized, and Controlled Study in Humans. Thyroid. 2022 02; 32(2):196-205. PMID: 34641706; PMCID: PMC8861912.
      Citations: 5     Fields:    Translation:HumansCTClinical Trials
    11. Carmean CM, Mimoto M, Landeche M, Ruiz D, Chellan B, Zhao L, Schulz MC, Dumitrescu AM, Sargis RM. Dietary Selenium Deficiency Partially Mimics the Metabolic Effects of Arsenic. Nutrients. 2021 Aug 23; 13(8). PMID: 34445052; PMCID: PMC8398803.
      Citations: 2     Fields:    Translation:AnimalsCells
    12. Furman A, Hannoush Z, Echegoyen FB, Dumitrescu A, Refetoff S, Weiss RE. Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism. Thyroid. 2021 10; 31(10):1589-1591. PMID: 34128397; PMCID: PMC8917882.
      Citations: 2     Fields:    Translation:Humans
    13. Furman AE, Dumitrescu AM, Refetoff S, Weiss RE. Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation. Thyroid. 2021 06; 31(6):1003-1005. PMID: 33198587; PMCID: PMC8215396.
      Citations: 3     Fields:    Translation:Humans
    14. Chellan B, Zhao L, Landeche M, Carmean CM, Dumitrescu AM, Sargis RM. Selenocysteine insertion sequence binding protein 2 (Sbp2) in the sex-specific regulation of selenoprotein gene expression in mouse pancreatic islets. Sci Rep. 2020 10 29; 10(1):18568. PMID: 33122797; PMCID: PMC7596060.
      Citations: 1     Fields:    Translation:AnimalsCells
    15. German A, Fernandes GW, Liao XH, Bianco AC, Refetoff S, Dumitrescu AM, França MM. Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207. PMID: 32718224; PMCID: PMC7891200.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    16. Refetoff S, Pappa T, Williams MK, Matheus MG, Liao XH, Hansen K, Nicol L, Pierce M, Blasco PA, Wiebers Jensen M, Bernal J, Weiss RE, Dumitrescu AM, LaFranchi S. Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation. Thyroid. 2021 05; 31(5):713-720. PMID: 32746752; PMCID: PMC8110025.
      Citations: 8     Fields:    Translation:Humans
    17. Fujisawa H, Korwutthikulrangsri M, Fu J, Liao XH, Dumitrescu AM. Role of the Thyroid Gland in Expression of the Thyroid Phenotype of Sbp2-Deficient Mice. Endocrinology. 2020 05 01; 161(5). PMID: 31826256; PMCID: PMC7144917.
      Citations: 5     Fields:    Translation:Animals
    18. Bruellman RJ, Watanabe Y, Ebrhim RS, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2020 05 01; 105(5). PMID: 31867598; PMCID: PMC7093074.
      Citations: 4     Fields:    Translation:Humans
    19. Fu J, Korwutthikulrangsri M, Sillers L, Liao XH, Alikasifoglu A, Menucci MB, Burman KD, Weiss RE, Dumitrescu AM, Gönç EN, Kandemir N. Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations. J Clin Endocrinol Metab. 2020 03 01; 105(3). PMID: 32084277; PMCID: PMC7034949.
      Citations: 7     Fields:    Translation:Humans
    20. Levine RL, Pappa T, Ilaka-Chibuluzo S, Rothberger GD, Dumitrescu AM, Refetoff S, França MM. Nonautoimmune Hyperthyroidism Caused by a Somatic Mosaic GNAS Mutation Involving Part of the Thyroid Gland. Thyroid. 2020 04; 30(4):640-642. PMID: 31910104; PMCID: PMC7187975.
      Citations: 1     Fields:    Translation:Humans
    21. Bruellman R, Watanabe Y, Shareef R, Abdullah MA, Dumitrescu A, Strauss BS, Refetoff S, Weiss RE. Insertion of an Alu Element in Thyroglobulin Gene as a Novel Cause of Congenital Hypothyroidism. Thyroid. 2020 05; 30(5):780-782. PMID: 31868128; PMCID: PMC7232585.
      Citations: 1     Fields:    Translation:HumansCells
    22. Fu J, Korwutthikulrangsri M, Ramos-Platt L, Pierson TM, Liao XH, Refetoff S, Weiss RE, Dumitrescu AM. Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants. Thyroid. 2020 03; 30(3):463-465. PMID: 31856685; PMCID: PMC7074892.
      Citations: 3     Fields:    Translation:Humans
    23. Ebrhim RS, Bruellman RJ, Watanabe Y, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß. Horm Res Paediatr. 2019; 92(6):390-394. PMID: 31914441; PMCID: PMC7308213.
      Citations: 1     Fields:    Translation:HumansCells
    24. Korwutthikulrangsri M, Dosiou C, Dumitrescu AM, Refetoff S. 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. Eur Thyroid J. 2019 Dec; 8(6):293-297. PMID: 31934554; PMCID: PMC6944928.
      Citations: 4     
    25. Fujisawa H, Dumitrescu AM, Refetoff S, Gagné J. Very Severe Resistance to Thyroid Hormone ß in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid. 2019 10; 29(10):1518-1520. PMID: 31432759; PMCID: PMC6797074.
      Citations: 3     Fields:    Translation:HumansCells
    26. Bianco AC, Dumitrescu A, Fonseca TL, Fernandes GW, Bocco BMLC, Gereben B, Ribeiro MO. Paradigms of Dynamic Control of Thyroid Hormone Signaling. Endocr Rev. 2019 08 01; 40(4):1000-1047. PMID: 31033998; PMCID: PMC6596318.
      Citations: 85     Fields:    Translation:HumansAnimalsCells
    27. Scherberg NH, Dumitrescu AM, Refetoff S, Anselmo J. Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line. Thyroid. 2019 06; 29(6):778-782. PMID: 30938226; PMCID: PMC6588120.
      Citations: 13     Fields:    Translation:Humans
    28. Watanabe Y, Bruellman RJ, Ebrhim RS, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid. 2019 02; 29(2):302-304. PMID: 30375286; PMCID: PMC6389765.
      Citations: 7     Fields:    Translation:Humans
    29. Fujisawa H, Mimoto MS, Dumitrescu AM, Çatli G, Kirbiyik Ö, Gençpinar P, Özdemir TR, Dündar BN. A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy. Thyroid. 2018 09; 28(9):1221-1223. PMID: 29882503; PMCID: PMC6154453.
      Citations: 13     Fields:    Translation:Humans
    30. Mimoto MS, Karaca A, Scherberg N, Dumitrescu AM, Refetoff S. Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid. 2018 06; 28(6):811-814. PMID: 29676214; PMCID: PMC5994679.
      Citations:    Fields:    Translation:Humans
    31. Watanabe Y, Sharwood E, Goodwin B, Creech MK, Hassan HY, Netea MG, Jaeger M, Dumitrescu A, Refetoff S, Huynh T, Weiss RE. A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. BMC Med Genet. 2018 05 02; 19(1):69. PMID: 29720101; PMCID: PMC5932782.
      Citations: 7     Fields:    Translation:HumansCells
    32. Fu J, Fujisawa H, Follman B, Liao XH, Dumitrescu AM. Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency. Endocrinology. 2017 12 01; 158(12):4317-4330. PMID: 29029094; PMCID: PMC5711384.
      Citations: 7     Fields:    Translation:HumansAnimals
    33. Pappa T, Mamanasiri S, Dumitrescu AM, Weiss RE, Refetoff S, Anselmo J. Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017 10 01; 102(10):3775-3782. PMID: 28938413; PMCID: PMC5630247.
      Citations: 8     Fields:    Translation:Humans
    34. Srichomkwun P, Liao XH, Moeller LC, Alonso-Sampedro M, Weiss RE, Dumitrescu AM, Refetoff S, Anselmo J, Hönes GS. Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice. J Clin Endocrinol Metab. 2017 09 01; 102(9):3234-3240. PMID: 28586435; PMCID: PMC5587072.
      Citations: 18     Fields:    
    35. Leitch VD, Di Cosmo C, Liao XH, O'Boy S, Galliford TM, Evans H, Croucher PI, Boyde A, Dumitrescu A, Weiss RE, Refetoff S, Williams GR, Bassett JHD. An Essential Physiological Role for MCT8 in Bone in Male Mice. Endocrinology. 2017 09 01; 158(9):3055-3066. PMID: 28637283; PMCID: PMC5659673.
      Citations: 6     Fields:    Translation:AnimalsCells
    36. Iwayama H, Liao XH, Braun L, Kaspar B, Weiss RE, Dumitrescu AM, Refetoff S, Bárez-López S, Guadaño-Ferraz A. Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice. Thyroid. 2016 09; 26(9):1311-9. PMID: 27432638; PMCID: PMC5036314.
      Citations: 16     Fields:    Translation:AnimalsCells
    37. Ferrara AM, Liao XH, Ye H, Weiss RE, Dumitrescu AM, Refetoff S. The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency. Endocrinology. 2015 Nov; 156(11):3889-94. PMID: 26322373; PMCID: PMC4606752.
      Citations: 14     Fields:    Translation:HumansAnimals
    38. Pappa T, Johannesen J, Scherberg N, Torrent M, Dumitrescu A, Refetoff S. A TSHß Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid. 2015 Aug; 25(8):869-76. PMID: 25950606; PMCID: PMC4533086.
      Citations: 11     Fields:    Translation:HumansCells
    39. Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff S. A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. J Clin Endocrinol Metab. 2015 Jan; 100(1):E173-81. PMID: 25361180; PMCID: PMC4283011.
      Citations: 5     Fields:    Translation:HumansCells
    40. Karaviti LP, Seghers V, Weiss RE, Refetoff S, Dumitrescu AM, Larsen CC. A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. Int J Pediatr Endocrinol. 2014; 2014(1):23. PMID: 25873976; PMCID: PMC4396564.
      Citations: 3     
    41. Liao XH, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S, Ferrara AM, Gil-Ibáñez P. Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice. Endocrinology. 2014 Oct; 155(10):4088-93. PMID: 25051435; PMCID: PMC4164925.
      Citations: 11     Fields:    Translation:Animals
    42. Dumitrescu AM, Núñez B, Martínez de Mena R, Obregon MJ, Font-Llitjós M, Nunes V, Palacín M, Morte B, Bernal J. Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivation. PLoS One. 2014; 9(5):e96915. PMID: 24819605; PMCID: PMC4018440.
      Citations: 13     Fields:    Translation:Animals
    43. Greenberg SM, Ferrara AM, Nicholas ES, Dumitrescu AM, Cody V, Weiss RE, Refetoff S. A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. Thyroid. 2014 Jun; 24(6):945-50. PMID: 24494774; PMCID: PMC4046191.
      Citations: 12     Fields:    Translation:Humans
    44. Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid. 2014 Mar; 24(3):407-9. PMID: 24588711; PMCID: PMC3950730.
      Citations: 15     Fields:    Translation:Humans
    45. Refetoff S, Bassett JH, Beck-Peccoz P, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Weiss RE, Williams GR, Yen PM, Bernal J, Samarut J. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Eur Thyroid J. 2014 Mar; 3(1):7-9. PMID: 24847459; PMCID: PMC4005262.
      Citations: 11     
    46. Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, Yen PM, Refetoff S. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. J Clin Endocrinol Metab. 2014 Mar; 99(3):768-70. PMID: 24823702; PMCID: PMC3942236.
      Citations: 20     Fields:    Translation:Humans
    47. Stana D, Iancu R, Leasu C, Popescu V, Dumitrescu A, Gradinaru S. The role of Spectral Domain Optical Coherence Tomography in monitoring uncontrolled hypertensive type 2 diabetic patients. J Med Life. 2014; 7 Spec No. 4:65-7. PMID: 27057251; PMCID: PMC4813620.
      Citations: 2     Fields:    Translation:Humans
    48. Fu J, Refetoff S, Dumitrescu AM. Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings. Curr Opin Endocrinol Diabetes Obes. 2013 Oct; 20(5):434-40. PMID: 23974772; PMCID: PMC4061907.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    49. Dumitrescu A, Vazquez-Mellado A, Vinogradova M, Fletterick R, Refetoff S, Weiss RE, Larsen CC, Guerra-Argüero LM, Gállego-Suárez C. Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease. Thyroid. 2013 Dec; 23(12):1638-43. PMID: 23806029; PMCID: PMC3868256.
      Citations: 6     Fields:    Translation:Humans
    50. Di Cosmo C, Liao XH, Ye H, Ferrara AM, Weiss RE, Refetoff S, Dumitrescu AM. Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels. Endocrinology. 2013 Dec; 154(12):4885-95. PMID: 24029243; PMCID: PMC3836073.
      Citations: 21     Fields:    Translation:AnimalsCells
    51. Fu J, Dumitrescu AM. Inherited defects in thyroid hormone cell-membrane transport and metabolism. Best Pract Res Clin Endocrinol Metab. 2014 Mar; 28(2):189-201. PMID: 24629861; PMCID: PMC3959653.
      Citations: 8     Fields:    Translation:HumansCells
    52. Ferrara AM, Liao XH, Marcinkowski T, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S, Gil-Ibáñez P. Changes in thyroid status during perinatal development of MCT8-deficient male mice. Endocrinology. 2013 Jul; 154(7):2533-41. PMID: 23696569; PMCID: PMC3689279.
      Citations: 42     Fields:    Translation:Animals
    53. Kasprzyk DF, Opitz R, Iacovino M, Liao XH, Dumitrescu AM, Refetoff S, Peremans K, Manto M, Kyba M, Costagliola S, Antonica F. Generation of functional thyroid from embryonic stem cells. Nature. 2012 Nov 01; 491(7422):66-71. PMID: 23051751; PMCID: PMC3687105.
      Citations: 146     Fields:    Translation:HumansAnimalsCells
    54. Verge CF, Konrad D, Cohen M, Di Cosmo C, Dumitrescu AM, Marcinkowski T, Hameed S, Hamilton J, Weiss RE, Refetoff S. Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab. 2012 Dec; 97(12):4515-23. PMID: 22993035; PMCID: PMC3513545.
      Citations: 47     Fields:    Translation:Humans
    55. Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013 Jul; 1830(7):3987-4003. PMID: 22986150; PMCID: PMC3528849.
      Citations: 79     Fields:    Translation:Humans
    56. Sriphrapradang C, German A, Dumitrescu AM, Refetoff S. Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. Thyroid. 2012 Mar; 22(3):252-7. PMID: 22313426; PMCID: PMC3286805.
      Citations: 1     Fields:    Translation:Humans
    57. Barca-Mayo O, Liao XH, DiCosmo C, Dumitrescu A, Moreno-Vinasco L, Wade MS, Sammani S, Mirzapoiazova T, Garcia JG, Refetoff S, Weiss RE. Role of type 2 deiodinase in response to acute lung injury (ALI) in mice. Proc Natl Acad Sci U S A. 2011 Dec 06; 108(49):E1321-9. PMID: 22065740; PMCID: PMC3241808.
      Citations: 20     Fields:    Translation:AnimalsCells
    58. Dumitrescu AM, Refetoff S. Inherited defects of thyroid hormone metabolism. Ann Endocrinol (Paris). 2011 Apr; 72(2):95-8. PMID: 21511232; PMCID: PMC3094475.
      Citations: 9     Fields:    Translation:Humans
    59. Sriphrapradang C, Tenenbaum-Rakover Y, Weiss M, Barkoff MS, Admoni O, Kawthar D, Caltabiano G, Pardo L, Dumitrescu AM, Refetoff S. The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation. J Clin Endocrinol Metab. 2011 Jun; 96(6):E1001-6. PMID: 21490078; PMCID: PMC3100752.
      Citations: 15     Fields:    Translation:Humans
    60. Liao XH, Di Cosmo C, Dumitrescu AM, Hernandez A, Van Sande J, St Germain DL, Weiss RE, Galton VA, Refetoff S. Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes. Endocrinology. 2011 Mar; 152(3):1180-91. PMID: 21285310; PMCID: PMC3040057.
      Citations: 31     Fields:    Translation:Animals
    61. Moeller LC, Haselhorst NE, Dumitrescu AM, Cao X, Seo H, Refetoff S, Mann K, Janssen OE. Stanniocalcin 1 induction by thyroid hormone depends on thyroid hormone receptor ß and phosphatidylinositol 3-kinase activation. Exp Clin Endocrinol Diabetes. 2011 Feb; 119(2):81-5. PMID: 20827662; PMCID: PMC5800749.
      Citations: 6     Fields:    Translation:HumansCells
    62. Di Cosmo C, Liao XH, Dumitrescu AM, Philp NJ, Weiss RE, Refetoff S. Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. J Clin Invest. 2010 Sep; 120(9):3377-88. PMID: 20679730; PMCID: PMC2929715.
      Citations: 62     Fields:    Translation:Animals
    63. Weiss RE, Dumitrescu A, Refetoff S. Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab. 2010 Jul; 95(7):3094-102. PMID: 20610605; PMCID: PMC2928892.
      Citations: 14     Fields:    Translation:Humans
    64. Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S. The syndrome of inherited partial SBP2 deficiency in humans. Antioxid Redox Signal. 2010 Apr 01; 12(7):905-20. PMID: 19769464; PMCID: PMC2864657.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    65. Morte B, Ceballos A, Diez D, Dumitrescu AM, Di Cosmo C, Galton VA, Refetoff S, Bernal J, Grijota-Martínez C. Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice. Endocrinology. 2010 May; 151(5):2381-7. PMID: 20211971; PMCID: PMC2869252.
      Citations: 53     Fields:    Translation:Animals
    66. Di Cosmo C, Liao XH, Dumitrescu AM, Weiss RE, Refetoff S. A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology. 2009 Sep; 150(9):4450-8. PMID: 19497976; PMCID: PMC2736078.
      Citations: 42     Fields:    Translation:Animals
    67. Dumitrescu AM, Liao XH, Bin-Abbas B, Hoeflich J, Refetoff S, Schomburg L, Köhrle J. Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid. 2009 Mar; 19(3):277-81. PMID: 19265499; PMCID: PMC2858371.
      Citations: 21     Fields:    Translation:Humans
    68. Belinchon MM, Sanchez-Mendoza E, Grijota-Martinez C, Dumitrescu AM, Refetoff S, Morte B, Bernal J, Ceballos A. Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. Endocrinology. 2009 May; 150(5):2491-6. PMID: 19147674; PMCID: PMC2671898.
      Citations: 66     Fields:    Translation:AnimalsCells
    69. Papadimitriou A, Dumitrescu AM, Papavasiliou A, Fretzayas A, Nicolaidou P, Refetoff S. A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics. 2008 Jan; 121(1):e199-202. PMID: 18166539.
      Citations: 17     Fields:    Translation:Humans
    70. Moeller LC, Alonso M, Liao X, Broach V, Dumitrescu A, Van Sande J, Montanelli L, Skjei S, Goodwin C, Grasberger H, Refetoff S, Weiss RE. Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats. Endocrinology. 2007 Oct; 148(10):4727-33. PMID: 17640981.
      Citations: 9     Fields:    Translation:AnimalsCells
    71. Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007 Jun; 21(2):277-305. PMID: 17574009.
      Citations: 79     Fields:    Translation:HumansAnimals
    72. Dumitrescu AM, Refetoff S. Novel biological and clinical aspects of thyroid hormone metabolism. Endocr Dev. 2007; 10:127-139. PMID: 17684394.
      Citations: 3     Fields:    Translation:HumansAnimals
    73. Moeller LC, Cao X, Dumitrescu AM, Seo H, Refetoff S. Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor beta through the phosphatidylinositol 3-kinase pathway. Nucl Recept Signal. 2006; 4:e020. PMID: 16862226; PMCID: PMC1513074.
      Citations: 40     Fields:    
    74. Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff S. Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab. 2006 Sep; 91(9):3471-7. PMID: 16804041.
      Citations: 13     Fields:    Translation:HumansCells
    75. Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology. 2006 Sep; 147(9):4036-43. PMID: 16709608.
      Citations: 112     Fields:    Translation:HumansAnimals
    76. Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52. PMID: 16228000.
      Citations: 137     Fields:    Translation:HumansCells
    77. McDermott JH, Agha A, McMahon M, Gasparro D, Moeller L, Dumitrescu AM, Refetoff S, Sreenan S. A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta. Ir J Med Sci. 2005 Oct-Dec; 174(4):60-4. PMID: 16445164.
      Citations:    Fields:    Translation:Humans
    78. Moeller LC, Dumitrescu AM, Refetoff S. Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes. Mol Endocrinol. 2005 Dec; 19(12):2955-63. PMID: 16051672.
      Citations: 41     Fields:    Translation:HumansCells
    79. Dumitrescu AM, Best TT, Hanefeld F, Refetoff S, Brockmann K. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol. 2005 Jun; 252(6):663-6. PMID: 15834651.
      Citations: 26     Fields:    Translation:Humans
    80. Lado-Abeal J, Dumitrescu AM, Liao XH, Cohen RN, Pohlenz J, Weiss RE, Lebrethon MC, Verloes A, Refetoff S. A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone. J Clin Endocrinol Metab. 2005 Mar; 90(3):1760-7. PMID: 15598685.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    81. Moeller LC, Dumitrescu AM, Walker RL, Meltzer PS, Refetoff S. Thyroid hormone responsive genes in cultured human fibroblasts. J Clin Endocrinol Metab. 2005 Feb; 90(2):936-43. PMID: 15507505.
      Citations: 28     Fields:    Translation:HumansCells
    82. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet. 2004 Jan; 74(1):168-75. PMID: 14661163; PMCID: PMC1181904.
      Citations: 220     Fields:    Translation:HumansCells
    83. Ishay A, Dumitrescu A, Luboshitzky R, Rakover Y, Refetoff S. A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child. Thyroid. 2003 Apr; 13(4):409-12. PMID: 12804112.
      Citations: 1     Fields:    Translation:Humans
    84. Reutrakul S, Dumitrescu A, Macchia PE, Moll GW, Vierhapper H, Refetoff S. 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. J Clin Endocrinol Metab. 2002 Mar; 87(3):1045-51. PMID: 11889160.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    85. Pohlenz J, Dumitrescu A, Zundel D, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S, Martiné U, Schönberger W. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest. 2002 Feb; 109(4):469-73. PMID: 11854318; PMCID: PMC150877.
      Citations: 64     Fields:    Translation:HumansAnimalsCells
    86. Pohlenz J, Dumitrescu A, Aumann U, Koch G, Melchior R, Prawitt D, Refetoff S. Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene. J Clin Endocrinol Metab. 2002 Jan; 87(1):336-9. PMID: 11788671.
      Citations: 12     Fields:    Translation:HumansCells
    87. Chang T, Mazotta J, Dumstrei K, Dumitrescu A, Hartenstein V. Dpp and Hh signaling in the Drosophila embryonic eye field. Development. 2001 Dec; 128(23):4691-704. PMID: 11731450.
      Citations: 27     Fields:    Translation:AnimalsCells
    88. Mogos T, Popescu C, Dumitrescu A, Tanase I, Mincu I. The relationship between aminoaciduria and plasma hemoglobin levels. Rom J Intern Med. 1993 Jul-Sep; 31(3):223-8. PMID: 8130761.
      Citations: 1     Fields:    Translation:Humans
    89. Motoiu I, Dumitrescu A, Ursea C, Gociu M, Berceanu S. [Blast study in acute leukemia using monoclonal antibodies]. Rev Med Interna Neurol Psihiatr Neurochir Dermatovenerol Med Interna. 1988 Jan-Feb; 40(1):33-40. PMID: 2899345.
      Citations:    Fields:    Translation:HumansCells
    90. Negut E, Litarczek G, Ghidaly M, Alexianu D, Dumitrescu A, Herlod A, Szégli G. [Clinical data on the use of intravenously administered gamma globulin produced by the Castacuzino Institute in different diseases of infectious etiology]. Rev Ig Bacteriol Virusol Parazitol Epidemiol Pneumoftiziol Bacteriol Virusol Parazitol Epidemiol. 1984 Oct-Dec; 29(4):317-24. PMID: 6084287.
      Citations:    Fields:    Translation:HumansCTClinical Trials
    91. Pencea V, Timosca S, Cotutiu C, Dumitrescu A, Haralamb E. [The autoimmune component in periodontal diseases in patients with thyroid dysfunction]. Rev Med Chir Soc Med Nat Iasi. 1978 Jan-Mar; 82(1):105-9. PMID: 674936.
      Citations:    Fields:    Translation:Humans
    92. Alessandrescu D, Dumitrescu A, Teodoru GC, Michelis M. [Influencing of the maternal and fetal acid-base equilibrium through labor under analgesia]. Arch Gynakol. 1971 Jun 04; 211(1):287-9. PMID: 5108888.
      Citations:    Fields:    Translation:Humans
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