The syndromes of reduced sensitivity to thyroid hormone

著者: Dumitrescu, Alexandra M., Refetoff, Samuel
出版事項 2012

Inherited defects in thyroid hormone cell-membrane transport and metabolism

著者: Fu, Jiao, Dumitrescu, Alexandra M.
出版事項 2013

Approach to the Patient with Resistance to Thyroid Hormone and Pregnancy

著者: Weiss, Roy E., Dumitrescu, Alexandra, Refetoff, Samuel
出版事項 2010

Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings

著者: Fu, Jiao, Refetoff, Samuel, Dumitrescu, Alexandra M.
出版事項 2013

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

著者: Anselmo, Joao, Scherberg, Neal, Dumitrescu, Alexandra, Refetoff, Samuel
出版年 J Endocr Soc (2019)

Consecutive Mutational Events in a TSHR Allele of Arab Families with Resistance to Thyroid Stimulating Hormone

著者: Sriphrapradang, Chutintorn, German, Alina, Dumitrescu, Alexandra M., Refetoff, Samuel
出版事項 2012

Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene

著者: Fujisawa, Haruki, Gagné, Julie, Dumitrescu, Alexandra M., Refetoff, Samuel
出版年 Thyroid (2019)

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

著者: Korwutthikulrangsri, Manassawee, Dosiou, Chrysoula, Dumitrescu, Alexandra M., Refetoff, Samuel
出版年 Eur Thyroid J (2019)

Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line

著者: Anselmo, João, Scherberg, Neal H., Dumitrescu, Alexandra M., Refetoff, Samuel
出版年 Thyroid (2019)

Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests

著者: Mimoto, Mizuho S., Karaca, Anara, Scherberg, Neal, Dumitrescu, Alexandra M., Refetoff, Samuel
出版年 Thyroid (2018)

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

著者: Korwutthikulrangsri, Manassawee, Fujisawa, Haruki, Fu, Jiao, Liao, Xiao Hui, Dumitrescu, Alexandra
出版年 J Endocr Soc (2019)

Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation

著者: Furman, Ary E., Dumitrescu, Alexandra M., Refetoff, Samuel, Weiss, Roy E.
出版年 Thyroid (2021)

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

著者: Moeller, Lars C., Cao, Xia, Dumitrescu, Alexandra M., Seo, Hisao, Refetoff, Samuel
出版事項 2006

A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications

著者: Pappa, Theodora, Johannesen, Jesper, Scherberg, Neal, Torrent, Maricel, Dumitrescu, Alexandra, Refetoff, Samuel
出版年 Thyroid (2015)

Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency

著者: Fu, Jiao, Fujisawa, Haruki, Follman, Benjamin, Liao, Xiao-Hui, Dumitrescu, Alexandra M.
出版年 Endocrinology (2017)

Role of the Thyroid Gland in Expression of the Thyroid Phenotype of Sbp2-Deficient Mice

著者: Fujisawa, Haruki, Korwutthikulrangsri, Manassawee, Fu, Jiao, Liao, Xiao-Hui, Dumitrescu, Alexandra M
出版年 Endocrinology (2019)

A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene

著者: Dumitrescu, Alexandra M., Liao, Xiao-Hui, Best, Thomas B., Brockmann, Knut, Refetoff, Samuel
出版事項 2004

A Thyroid Hormone Analog with Reduced Dependence on the Monocarboxylate Transporter 8 for Tissue Transport

著者: Di Cosmo, Caterina, Liao, Xiao-Hui, Dumitrescu, Alexandra M., Weiss, Roy E., Refetoff, Samuel
出版事項 2009

The Syndrome of Inherited Partial SBP2 Deficiency in Humans

著者: Dumitrescu, Alexandra M., Cosmo, Caterina Di, Liao, Xiao-Hui, Weiss, Roy E., Refetoff, Samuel
出版事項 2010

Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications

著者: Pappa, Theodora, Anselmo, João, Mamanasiri, Sunnee, Dumitrescu, Alexandra M., Weiss, Roy E., Refetoff, Samuel
出版年 J Clin Endocrinol Metab (2017)