| Year |
Citation |
Score |
| 2024 |
Salas-Lucia F, Escamilla S, Bianco AC, Dumitrescu A, Refetoff S. Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie the Allan-Herndon-Dudley syndrome. Jci Insight. PMID 38376950 DOI: 10.1172/jci.insight.174645 |
0.564 |
|
| 2023 |
Salas-Lucia F, Liao XH, Jiang H, Dumitrescu AM, Refetoff S, Anselmo J. The Relationship Between Fetal Genotype and Maternal Thyroid Function. Thyroid : Official Journal of the American Thyroid Association. 33: 1255-1258. PMID 37597194 DOI: 10.1089/thy.2023.0236 |
0.493 |
|
| 2023 |
Salas-Lucia F, Stan MN, James H, Rajwani A, Liao XH, Dumitrescu AM, Refetoff S. Effect of the Fetal THRB Genotype on the Placenta. The Journal of Clinical Endocrinology and Metabolism. PMID 37149816 DOI: 10.1210/clinem/dgad243 |
0.581 |
|
| 2023 |
Ebrhim RS, Furman AE, Watanabe Y, Bruellman RJ, Abdullah MA, Dumitrescu AM, Refetoff S, Bertolini A, Borsò M, Saba A, Zucchi R, Weiss RE. Congenital Hypothyroidism in Two Sudanese Families harboring a novel Iodotyrosine deiodinase mutation (IYD R279C). Thyroid : Official Journal of the American Thyroid Association. PMID 36633921 DOI: 10.1089/thy.2022.0492 |
0.612 |
|
| 2022 |
Franca MM, Reeve L, Dumitrescu AM, de Bock M, Refetoff S. A novel pathogenic variant in PAX8 leads to familial congenital hypothyroidism. Thyroid : Official Journal of the American Thyroid Association. PMID 35611983 DOI: 10.1089/thy.2022.0117 |
0.526 |
|
| 2022 |
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 : Official Journal of the American Thyroid Association. PMID 35350867 DOI: 10.1089/thy.2022.0034 |
0.556 |
|
| 2022 |
Salas-Lucia F, França MM, Amrhein JA, Weir JE, Dumitrescu AM, Refetoff S. Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis. Thyroid : Official Journal of the American Thyroid Association. 32: 336-339. PMID 34969265 DOI: 10.1089/thy.2021.0523 |
0.622 |
|
| 2021 |
Furman AE, Hannoush Z, Barrera Echegoyen FX, Dumitrescu AM, Refetoff S, Weiss RE. Novel DIO1 gene mutation acting as phenotype modifier for novel compound heterozygous TPO gene mutations causing congenital hypothyroidism. Thyroid : Official Journal of the American Thyroid Association. PMID 34128397 DOI: 10.1089/thy.2021.0210 |
0.594 |
|
| 2020 |
Furman AE, Dumitrescu AM, Refetoff S, Weiss RE. Early diagnosis and treatment of an infant with a novel THRA gene (pC380SfsX9) mutation. Thyroid : Official Journal of the American Thyroid Association. PMID 33198587 DOI: 10.1089/thy.2020.0695 |
0.594 |
|
| 2020 |
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 SH. Prenatal treatment of thyroid hormone cell membrane transport defect caused by MCT8 gene mutation. Thyroid : Official Journal of the American Thyroid Association. PMID 32746752 DOI: 10.1089/Thy.2020.0306 |
0.654 |
|
| 2020 |
Franca MM, German A, Gustavo FW, Liao XH, Bianco AC, Refetoff S, Dumitrescu AM. Human type 1 Iodothyronine deiodinase (DIO1) mutations cause abnormal thyroid hormone metabolism. Thyroid : Official Journal of the American Thyroid Association. PMID 32718224 DOI: 10.1089/Thy.2020.0253 |
0.667 |
|
| 2020 |
Fu J, Korwutthikulrangsri M, Gönç EN, Sillers L, Liao XH, Alikaşifoğlu A, Kandemir N, Menucci MB, Burman KD, Weiss RE, Dumitrescu AM. Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations. The Journal of Clinical Endocrinology and Metabolism. 105. PMID 32084277 DOI: 10.1210/Clinem/Dgz169 |
0.538 |
|
| 2020 |
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 TSHβ. Hormone Research in Paediatrics. 1-5. PMID 31914441 DOI: 10.1159/000504981 |
0.677 |
|
| 2020 |
Franca MM, Levine RL, Pappa T, Ilaka-Chibuluzo S, Rothberger GD, Dumitrescu AM, Refetoff S. Non-autoimmune hyperthyroidism caused by a somatic mosaic GNAS gene mutation involving part of the thyroid gland. Thyroid : Official Journal of the American Thyroid Association. PMID 31910104 DOI: 10.1089/Thy.2019.0471 |
0.652 |
|
| 2020 |
França MM, Liao XH, Fernandes GW, German A, Bianco AC, Refetoff S, Dumitrescu A. OR01-01 Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism Journal of the Endocrine Society. 4. DOI: 10.1210/Jendso/Bvaa046.966 |
0.601 |
|
| 2019 |
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. European Thyroid Journal. 8: 293-297. PMID 31934554 DOI: 10.1159/000503860 |
0.673 |
|
| 2019 |
Bruellman RJ, Watanabe Y, Ebrhim RS, Abdullah MA, Dumitrescu AM, Strauss BS, Refetoff S, Weiss RE. Insertion of an Alu element in the thyroglobulin gene as a novel cause of congenital hypothyroidism. Thyroid : Official Journal of the American Thyroid Association. PMID 31868128 DOI: 10.1089/Thy.2019.0636 |
0.591 |
|
| 2019 |
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. The Journal of Clinical Endocrinology and Metabolism. PMID 31867598 DOI: 10.1210/Clinem/Dgz297 |
0.505 |
|
| 2019 |
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 : Official Journal of the American Thyroid Association. PMID 31856685 DOI: 10.1089/Thy.2018.0703 |
0.666 |
|
| 2019 |
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. PMID 31826256 DOI: 10.1210/Endocr/Bqz032 |
0.57 |
|
| 2019 |
Fujisawa H, Gagné J, Dumitrescu AM, Refetoff S. Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid : Official Journal of the American Thyroid Association. PMID 31432759 DOI: 10.1089/Thy.2019.0095 |
0.669 |
|
| 2019 |
Bianco AC, Dumitrescu A, Gereben B, Ribeiro MO, Fonseca TL, Fernandes GW, Bocco BMLC. Paradigms of Dynamic Control of Thyroid Hormone Signaling. Endocrine Reviews. PMID 31033998 DOI: 10.1210/Er.2018-00275 |
0.427 |
|
| 2019 |
Anselmo JD, Scherberg N, Dumitrescu AM, Refetoff S. Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along Human Male Line. Thyroid : Official Journal of the American Thyroid Association. PMID 30938226 DOI: 10.1089/Thy.2019.0080 |
0.586 |
|
| 2019 |
Anselmo J, Scherberg N, Dumitrescu A, Refetoff S. OR10-5 Reduced Sensitivity to Thyroid Hormone Due to Fetal Exposure to High Thyroid Hormone Levels Is Transmitted along Male Line to Two Subsequent Generations Journal of the Endocrine Society. 3. DOI: 10.1210/Js.2019-Or10-5 |
0.619 |
|
| 2019 |
Korwutthikulrangsri M, Fujisawa H, Fu J, Liao XH, Dumitrescu A. OR10-3 Contributions of the Hypothalamus and Pituitary in Expressing the Thyroid Phenotype of SBP2 Deficiency: Other Regulatory Tiers in Addition to the Thyroid Gland Journal of the Endocrine Society. 3. DOI: 10.1210/Js.2019-Or10-3 |
0.538 |
|
| 2018 |
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 : Official Journal of the American Thyroid Association. PMID 30375286 DOI: 10.1089/Thy.2018.0295 |
0.6 |
|
| 2018 |
Çatli G, Fujisawa H, Kırbıyık Ö, Mimoto MS, Gencpinar P, Özdemir TR, Dündar BN, Dumitrescu AM. 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. PMID 29882503 DOI: 10.1089/Thy.2018.0015 |
0.477 |
|
| 2018 |
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 Medical Genetics. 19: 69. PMID 29720101 DOI: 10.1186/S12881-018-0588-7 |
0.651 |
|
| 2018 |
Mimoto MS, Karaca A, Scherberg N, Dumitrescu AM, Refetoff S. Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid : Official Journal of the American Thyroid Association. PMID 29676214 DOI: 10.1089/Thy.2017.0564 |
0.662 |
|
| 2018 |
Shareef R, Watanabe Y, Creech MK, Bis DM, Züchner S, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. AB022. *Genetic analysis of 11 Sudanese families with congenital hypothyroidism Pediatric Medicine. 1: AB022-AB022. DOI: 10.21037/pm.2018.AB022 |
0.418 |
|
| 2017 |
Fu J, Fujisawa H, Follman B, Liao XH, Dumitrescu AM. Thyroid hormone metabolism defects in a mouse model of SBP2 deficiency. Endocrinology. PMID 29029094 DOI: 10.1210/En.2017-00618 |
0.565 |
|
| 2017 |
Pappa T, Anselmo J, Mamanasiri S, Dumitrescu AM, Weiss RE, Refetoff S. Prenatal diagnosis of resistance to thyroid hormone and its clinical implications. The Journal of Clinical Endocrinology and Metabolism. PMID 28938413 DOI: 10.1210/Jc.2017-01251 |
0.653 |
|
| 2017 |
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. PMID 28637283 DOI: 10.1210/En.2017-00399 |
0.573 |
|
| 2017 |
Srichomkwun P, Anselmo J, Liao XH, Hönes GS, Moeller LC, Alonso-Sampedro M, Weiss RE, Dumitrescu AM, Refetoff S. 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. PMID 28586435 DOI: 10.1210/Jc.2017-00019 |
0.668 |
|
| 2016 |
Iwayama H, Liao XH, Braun L, Bárez-López S, Kaspar B, Weiss R, Dumitrescu AM, Guadaño-Ferraz A, Refetoff S. 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. PMID 27432638 DOI: 10.1089/Thy.2016.0060 |
0.637 |
|
| 2015 |
Ferrara AM, Liao XH, Ye H, Weiss RE, Dumitrescu AM, Refetoff S. The thyroid hormone analogue DITPA ameliorates metabolic parameters of male mice with Mct8 deficiency. Endocrinology. en20151234. PMID 26322373 DOI: 10.1210/En.2015-1234 |
0.671 |
|
| 2015 |
Pappa T, Johannesen J, Scherberg N, Torrent M, Dumitrescu A, Refetoff S. A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid : Official Journal of the American Thyroid Association. 25: 869-76. PMID 25950606 DOI: 10.1089/Thy.2015.0096 |
0.599 |
|
| 2015 |
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. The Journal of Clinical Endocrinology and Metabolism. 100: E173-81. PMID 25361180 DOI: 10.1210/Jc.2014-3490 |
0.659 |
|
| 2014 |
Larsen CC, Karaviti LP, Seghers V, Weiss RE, Refetoff S, Dumitrescu AM. 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. PMID 25873976 DOI: 10.1186/1687-9856-2014-23 |
0.656 |
|
| 2014 |
Ferrara AM, Liao XH, Gil-Ibáñez P, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S. Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice. Endocrinology. 155: 4088-93. PMID 25051435 DOI: 10.1210/En.2014-1085 |
0.648 |
|
| 2014 |
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, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. European Thyroid Journal. 3: 7-9. PMID 24847459 DOI: 10.1159/000358180 |
0.723 |
|
| 2014 |
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, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. The Journal of Clinical Endocrinology and Metabolism. 99: 768-70. PMID 24823702 DOI: 10.1210/Jc.2013-3393 |
0.723 |
|
| 2014 |
Núñez B, Martínez de Mena R, Obregon MJ, Font-Llitjós M, Nunes V, Palacín M, Dumitrescu AM, Morte B, Bernal J. Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivation. Plos One. 9: e96915. PMID 24819605 DOI: 10.1371/Journal.Pone.0096915 |
0.548 |
|
| 2014 |
Fu J, Dumitrescu AM. Inherited defects in thyroid hormone cell-membrane transport and metabolism. Best Practice & Research. Clinical Endocrinology & Metabolism. 28: 189-201. PMID 24629861 DOI: 10.1016/J.Beem.2013.05.014 |
0.584 |
|
| 2014 |
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, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid : Official Journal of the American Thyroid Association. 24: 407-9. PMID 24588711 DOI: 10.1089/Thy.2013.3393.Nomen |
0.723 |
|
| 2014 |
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 : Official Journal of the American Thyroid Association. 24: 945-50. PMID 24494774 DOI: 10.1089/Thy.2013.0540 |
0.592 |
|
| 2013 |
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. 154: 4885-95. PMID 24029243 DOI: 10.1210/En.2013-1150 |
0.56 |
|
| 2013 |
Fu J, Refetoff S, Dumitrescu AM. Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings. Current Opinion in Endocrinology, Diabetes, and Obesity. 20: 434-40. PMID 23974772 DOI: 10.1097/01.Med.0000432531.03233.Ad |
0.619 |
|
| 2013 |
Larsen CC, Dumitrescu A, Guerra-Argüero LM, Gállego-Suárez C, Vazquez-Mellado A, Vinogradova M, Fletterick R, Refetoff S, Weiss RE. Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease Thyroid. 23: 1638-1643. PMID 23806029 DOI: 10.1089/Thy.2013.0174 |
0.674 |
|
| 2013 |
Ferrara AM, Liao XH, Gil-Ibáñez P, Marcinkowski T, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S. Changes in thyroid status during perinatal development of MCT8-deficient male mice. Endocrinology. 154: 2533-41. PMID 23696569 DOI: 10.1210/En.2012-2031 |
0.653 |
|
| 2013 |
Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochimica Et Biophysica Acta. 1830: 3987-4003. PMID 22986150 DOI: 10.1016/J.Bbagen.2012.08.005 |
0.682 |
|
| 2012 |
Antonica F, Kasprzyk DF, Opitz R, Iacovino M, Liao XH, Dumitrescu AM, Refetoff S, Peremans K, Manto M, Kyba M, Costagliola S. Generation of functional thyroid from embryonic stem cells. Nature. 491: 66-71. PMID 23051751 DOI: 10.1038/Nature11525 |
0.61 |
|
| 2012 |
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. The Journal of Clinical Endocrinology and Metabolism. 97: 4515-23. PMID 22993035 DOI: 10.1210/Jc.2012-2556 |
0.663 |
|
| 2012 |
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 : Official Journal of the American Thyroid Association. 22: 252-7. PMID 22313426 DOI: 10.1089/Thy.2011.0402 |
0.604 |
|
| 2012 |
Yamazaki CA, Camacho CP, Andreoni DM, Padovani RP, Ikejiri ES, Mamone MCOM, Aldighieri FC, Wagner J, Mehanna R, Murphy MS, Sheahan P, Hidal JT, Vieira JGH, Biscolla RPM, Maciel RMB, ... ... Dumitrescu AM, et al. Front & Back Matter European Thyroid Journal. 1. DOI: 10.1159/000341866 |
0.396 |
|
| 2011 |
Sriphrapradang C, German A, Dumitrescu AM, Refetoff S. Consecutive Mutational Events in a Thyroid Stimulating Hormone (TSH) Receptor Allele of Arab Families with Resistance to TSH. Thyroid. 22: 252-7. PMID 22313426 DOI: 10.1089/Thy.2011-0402 |
0.644 |
|
| 2011 |
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. Proceedings of the National Academy of Sciences of the United States of America. 108: E1321-9. PMID 22065740 DOI: 10.1073/Pnas.1109926108 |
0.518 |
|
| 2011 |
Dumitrescu AM, Refetoff S. Inherited defects of thyroid hormone metabolism. Annales D'Endocrinologie. 72: 95-8. PMID 21511232 DOI: 10.1016/J.Ando.2011.03.011 |
0.7 |
|
| 2011 |
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. The Journal of Clinical Endocrinology and Metabolism. 96: E1001-6. PMID 21490078 DOI: 10.1210/Jc.2011-0127 |
0.653 |
|
| 2011 |
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. 152: 1180-91. PMID 21285310 DOI: 10.1210/En.2010-0900 |
0.559 |
|
| 2011 |
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 β and phosphatidylinositol 3-kinase activation. Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association. 119: 81-5. PMID 20827662 DOI: 10.1055/S-0030-1262860 |
0.642 |
|
| 2010 |
Di Cosmo C, Liao XH, Dumitrescu AM, Philp NJ, Weiss RE, Refetoff S. Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. The Journal of Clinical Investigation. 120: 3377-88. PMID 20679730 DOI: 10.1172/Jci42113 |
0.663 |
|
| 2010 |
Weiss RE, Dumitrescu A, Refetoff S. Approach to the patient with resistance to thyroid hormone and pregnancy. The Journal of Clinical Endocrinology and Metabolism. 95: 3094-102. PMID 20610605 DOI: 10.1210/Jc.2010-0409 |
0.662 |
|
| 2010 |
Morte B, Ceballos A, Diez D, Grijota-Martínez C, Dumitrescu AM, Di Cosmo C, Galton VA, Refetoff S, Bernal J. 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. 151: 2381-7. PMID 20211971 DOI: 10.1210/En.2009-0944 |
0.625 |
|
| 2010 |
Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S. The syndrome of inherited partial SBP2 deficiency in humans. Antioxidants & Redox Signaling. 12: 905-20. PMID 19769464 DOI: 10.1089/Ars.2009.2892 |
0.66 |
|
| 2010 |
Weiss RE, Dumitrescu AM, Refetoff S. Syndromes of Reduced Sensitivity to Thyroid Hormone Genetic Diagnosis of Endocrine Disorders. 105-116+330. DOI: 10.1016/B978-0-12-374430-2.00010-9 |
0.652 |
|
| 2009 |
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. 150: 4450-8. PMID 19497976 DOI: 10.1210/En.2009-0209 |
0.6 |
|
| 2009 |
Schomburg L, Dumitrescu AM, Liao XH, Bin-Abbas B, Hoeflich J, Köhrle J, Refetoff S. Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid : Official Journal of the American Thyroid Association. 19: 277-81. PMID 19265499 DOI: 10.1089/Thy.2008.0397 |
0.65 |
|
| 2009 |
Ceballos A, Belinchon MM, Sanchez-Mendoza E, Grijota-Martinez C, Dumitrescu AM, Refetoff S, Morte B, Bernal J. Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. Endocrinology. 150: 2491-6. PMID 19147674 DOI: 10.1210/En.2008-1616 |
0.611 |
|
| 2008 |
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. 121: e199-202. PMID 18166539 DOI: 10.1542/Peds.2007-1247 |
0.618 |
|
| 2007 |
Dumitrescu AM, Refetoff S. Novel biological and clinical aspects of thyroid hormone metabolism. Endocrine Development. 10: 127-39. PMID 17684394 DOI: 10.1159/000106824 |
0.658 |
|
| 2007 |
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. 148: 4727-33. PMID 17640981 DOI: 10.1210/En.2007-0236 |
0.479 |
|
| 2007 |
Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Practice & Research. Clinical Endocrinology & Metabolism. 21: 277-305. PMID 17574009 DOI: 10.1016/J.Beem.2007.03.005 |
0.675 |
|
| 2007 |
Moeller L, Janssen S, Jaeger A, Dumitrescu A, Refetoff S, Mann K, Janssen O. A three nucleotide difference in the HNF-1 binding site of the thyroxine-binding globulin (TBG) promoter causes low TBG expression in dog Experimental and Clinical Endocrinology & Diabetes. 115. DOI: 10.1055/S-2007-972272 |
0.433 |
|
| 2007 |
Moeller L, Haselhorst N, Dumitrescu A, Refetoff S, Mann K, Janssen O. Induction of aldo-keto reductase 1C1–3 (AKR1C1–3) by thyroid hormone requires the TRβ and activation of the MAPK pathway Experimental and Clinical Endocrinology & Diabetes. 115. DOI: 10.1055/S-2007-972232 |
0.607 |
|
| 2006 |
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. Nuclear Receptor Signaling. 4: e020. PMID 16862226 DOI: 10.1621/Nrs.04020 |
0.593 |
|
| 2006 |
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. The Journal of Clinical Endocrinology and Metabolism. 91: 3471-7. PMID 16804041 DOI: 10.1210/Jc.2006-0727 |
0.686 |
|
| 2006 |
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. 147: 4036-43. PMID 16709608 DOI: 10.1210/En.2006-0390 |
0.627 |
|
| 2006 |
Moeller L, Ulanowski N, Dumitrescu A, Refetoff S, Mann K, Janssen O. Stanniocalcin 1 is induced by thyroid hormone via cytosolic action of the thyroid hormone receptor β Experimental and Clinical Endocrinology & Diabetes. 114. DOI: 10.1055/S-2006-932883 |
0.619 |
|
| 2005 |
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. Irish Journal of Medical Science. 174: 60-4. PMID 16445164 DOI: 10.1007/Bf03168985 |
0.666 |
|
| 2005 |
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. Nature Genetics. 37: 1247-52. PMID 16228000 DOI: 10.1038/Ng1654 |
0.679 |
|
| 2005 |
Moeller LC, Dumitrescu AM, Refetoff S. Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes. Molecular Endocrinology (Baltimore, Md.). 19: 2955-63. PMID 16051672 DOI: 10.1210/Me.2004-0542 |
0.545 |
|
| 2005 |
Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. Journal of Neurology. 252: 663-6. PMID 15834651 DOI: 10.1007/S00415-005-0713-3 |
0.687 |
|
| 2005 |
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. The Journal of Clinical Endocrinology and Metabolism. 90: 1760-7. PMID 15598685 DOI: 10.1210/Jc.2004-1488 |
0.679 |
|
| 2005 |
Moeller LC, Dumitrescu AM, Walker RL, Meltzer PS, Refetoff S. Thyroid hormone responsive genes in cultured human fibroblasts. The Journal of Clinical Endocrinology and Metabolism. 90: 936-43. PMID 15507505 DOI: 10.1210/Jc.2004-1768 |
0.623 |
|
| 2005 |
Brockmann K, Dumitrescu A, Best T, Hanefeld F, Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defective thyroid hormone transporter MCT8 Neuropediatrics. 36. DOI: 10.1055/s-2005-867976 |
0.565 |
|
| 2005 |
Moeller L, Dumitrescu A, Walker R, Meltzer P, Refetoff S. Identification of thyroid hormone target genes in human cells Experimental and Clinical Endocrinology & Diabetes. 113. DOI: 10.1055/S-2005-863002 |
0.618 |
|
| 2004 |
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. American Journal of Human Genetics. 74: 168-75. PMID 14661163 DOI: 10.1086/380999 |
0.685 |
|
| 2003 |
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 : Official Journal of the American Thyroid Association. 13: 409-12. PMID 12804112 DOI: 10.1089/105072503321669938 |
0.679 |
|
| 2002 |
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 Journal of Clinical Endocrinology and Metabolism. 87: 1045-1051. PMID 11889160 DOI: 10.1210/Jcem.87.3.8275 |
0.597 |
|
| 2002 |
Pohlenz J, Dumitrescu A, Zundel D, Martiné U, Schönberger W, Koo E, Weiss RE, Cohen RN, Kimura S, Refetoff S. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice Journal of Clinical Investigation. 109: 469-473. PMID 11854318 DOI: 10.1172/Jci14192 |
0.643 |
|
| 2002 |
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. The Journal of Clinical Endocrinology and Metabolism. 87: 336-9. PMID 11788671 DOI: 10.1210/Jcem.87.1.8154 |
0.58 |
|
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