| A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene AM Dumitrescu, XH Liao, TB Best, K Brockmann, S Refetoff The American Journal of Human Genetics 74 (1), 168-175, 2004 | 748 | 2004 |
| Mutations in SECISBP2 result in abnormal thyroid hormone metabolism AM Dumitrescu, XH Liao, MSY Abdullah, J Lado-Abeal, FA Majed, ... Nature genetics 37 (11), 1247-1252, 2005 | 437 | 2005 |
| Generation of functional thyroid from embryonic stem cells F Antonica, DF Kasprzyk, R Opitz, M Iacovino, XH Liao, AM Dumitrescu, ... Nature 491 (7422), 66-71, 2012 | 369 | 2012 |
| Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination S Refetoff, AM Dumitrescu Best practice & research Clinical endocrinology & metabolism 21 (2), 277-305, 2007 | 365 | 2007 |
| Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice AM Dumitrescu, XH Liao, RE Weiss, K Millen, S Refetoff Endocrinology 147 (9), 4036-4043, 2006 | 353 | 2006 |
| The syndromes of reduced sensitivity to thyroid hormone AM Dumitrescu, S Refetoff Biochimica et Biophysica Acta (BBA)-General Subjects 1830 (7), 3987-4003, 2013 | 270 | 2013 |
| Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice J Pohlenz, A Dumitrescu, D Zundel, U Martiné, W Schönberger, E Koo, ... The Journal of clinical investigation 109 (4), 469-473, 2002 | 238 | 2002 |
| Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion C Di Cosmo, XH Liao, AM Dumitrescu, NJ Philp, RE Weiss, S Refetoff The Journal of clinical investigation 120 (9), 3377-3388, 2010 | 217 | 2010 |
| Paradigms of dynamic control of thyroid hormone signaling AC Bianco, A Dumitrescu, B Gereben, MO Ribeiro, TL Fonseca, ... Endocrine reviews 40 (4), 1000-1047, 2019 | 208 | 2019 |
| Importance of Monocarboxylate Transporter 8 for the Blood-Brain Barrier-Dependent Availability of 3,5,3′-Triiodo-l-Thyronine A Ceballos, MM Belinchon, E Sanchez-Mendoza, C Grijota-Martinez, ... Endocrinology 150 (5), 2491-2496, 2009 | 186 | 2009 |
| Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor β through the phosphatidylinositol 3-kinase pathway LC Moeller, X Cao, AM Dumitrescu, H Seo, S Refetoff Nuclear receptor signaling 4 (1), nrs. 04020, 2006 | 177 | 2006 |
| Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1α and glycolytic genes LC Moeller, AM Dumitrescu, S Refetoff Molecular Endocrinology 19 (12), 2955-2963, 2005 | 173 | 2005 |
| Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism S Refetoff, JH Bassett, P Beck-Peccoz, J Bernal, G Brent, K Chatterjee, ... European Thyroid Journal 3 (1), 7-9, 2014 | 145 | 2014 |
| Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency CF Verge, D Konrad, M Cohen, C Di Cosmo, AM Dumitrescu, ... The Journal of Clinical Endocrinology & Metabolism 97 (12), 4515-4523, 2012 | 131 | 2012 |
| 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 … B Morte, A Ceballos, D Diez, C Grijota-Martínez, AM Dumitrescu, ... Endocrinology 151 (5), 2381-2387, 2010 | 129 | 2010 |
| Thyroid hormone responsive genes in cultured human fibroblasts LC Moeller, AM Dumitrescu, RL Walker, PS Meltzer, S Refetoff The Journal of Clinical Endocrinology & Metabolism 90 (2), 936-943, 2005 | 129 | 2005 |
| A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport C Di Cosmo, XH Liao, AM Dumitrescu, RE Weiss, S Refetoff Endocrinology 150 (9), 4450-4458, 2009 | 114 | 2009 |
| X–linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene K Brockmann, AM Dumitrescu, TT Best, F Hanefeld, S Refetoff Journal of neurology 252, 663-666, 2005 | 111 | 2005 |
| Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes XH Liao, C Di Cosmo, AM Dumitrescu, A Hernandez, J Van Sande, ... Endocrinology 152 (3), 1180-1191, 2011 | 90 | 2011 |
| Changes in thyroid status during perinatal development of MCT8-deficient male mice AM Ferrara, XH Liao, P Gil-Ibáñez, T Marcinkowski, J Bernal, RE Weiss, ... Endocrinology 154 (7), 2533-2541, 2013 | 84 | 2013 |
Antonio C Bianco, M.D., Ph.D.Professor of Medicine, University of ChicagoVerified email at deiodinase.org
