The syndromes of reduced sensitivity to thyroid hormone von Dumitrescu, Alexandra M., Refetoff, Samuel

Volltext

Generation of functional thyroid from embryonic stem cells von Antonica, Francesco, Kasprzyk, Dominika Figini, Opitz, Robert, Iacovino, Michelina, Liao, Xiao-Hui, Dumitrescu, Alexandra Mihaela, Refetoff, Samuel, Peremans, Kathelijne, Manto, Mario, Kyba, Michael, Costagliola, Sabine

Volltext

Paradigms of Dynamic Control of Thyroid Hormone Signaling von Bianco, Antonio C, Dumitrescu, Alexandra, Gereben, Balázs, Ribeiro, Miriam O, Fonseca, Tatiana L, Fernandes, Gustavo W, Bocco, Barbara M L C

Volltext

Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination von Refetoff, Samuel, MD, Dumitrescu, Alexandra M., MD, PhD

Volltext

Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line von Anselmo, João, Scherberg, Neal H., Dumitrescu, Alexandra M., Refetoff, Samuel

Volltext

Effect of the Fetal THRB Genotype on the Placenta von Salas-Lucia, Federico, Stan, Marius N, James, Haleigh, Rajwani, Aadil, Liao, Xiao-Hui, Dumitrescu, Alexandra M, Refetoff, Samuel

Volltext

Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency von Verge, Charles F, Konrad, Daniel, Cohen, Michal, Di Cosmo, Caterina, Dumitrescu, Alexandra M, Marcinkowski, Teresa, Hameed, Shihab, Hamilton, Jill, Weiss, Roy E, Refetoff, Samuel

Volltext

Extended Absorption of Liothyronine from Poly-Zinc-Liothyronine: Results from a Phase 1, Double-Blind, Randomized, and Controlled Study in Humans von Dumitrescu, Alexandra M, Hanlon, Erin C, Arosemena, Marilyn, Duchon, Olga, Ettleson, Matthew, Giurcanu, Mihai, Bianco, Antonio C

Volltext

A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism von França, Monica Malheiros, Reeve, Lucy, Dumitrescu, Alexandra M, de Bock, Martin, Refetoff, Samuel

Volltext

Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism von França, Monica M, German, Alina, Fernandes, Gustavo W, Liao, Xiao-Hui, Bianco, Antonio C, Refetoff, Samuel, Dumitrescu, Alexandra M

Volltext

Tissue-Specific Thyroid Hormone Deprivation and Excess in Monocarboxylate Transporter (Mct) 8-Deficient Mice von Dumitrescu, Alexandra M, Liao, Xiao-Hui, Weiss, Roy E, Millen, Kathleen, Refetoff, Samuel

Volltext

Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor α Gene (pC380SfsX9) Mutation von Furman, Ary E, Dumitrescu, Alexandra M, Refetoff, Samuel, Weiss, Roy E

Volltext

The Relationship Between Fetal THRB Genotype and Maternal Thyroid Function von Salas-Lucia, Federico, Liao, Xiao-Hui, Jiang, Hanzi, Dumitrescu, Alexandra M, Refetoff, Samuel, Anselmo, Joao

Volltext

Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene von Fujisawa, Haruki, Gagné, Julie, Dumitrescu, Alexandra M., Refetoff, Samuel

Volltext

Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivation von Núñez, Bárbara, Martínez de Mena, Raquel, Obregon, Maria Jesus, Font-Llitjós, Mariona, Nunes, Virginia, Palacín, Manuel, Dumitrescu, Alexandra M, Morte, Beatriz, Bernal, Juan

Volltext

Graves’ disease and papillary thyroid carcinoma: case report and literature review of a single academic center von Arosemena, Marilyn A, Cipriani, Nicole A, Dumitrescu, Alexandra M

Volltext

Inherited defects in thyroid hormone cell-membrane transport and metabolism von Fu, Jiao, MD, Dumitrescu, Alexandra M., MD, PhD

Volltext

Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism von Bruellman, Ryan J, Watanabe, Yui, Ebrhim, Reham S, Creech, Matthew K, Abdullah, Mohamed A, Dumitrescu, Alexandra M, Refetoff, Samuel, Weiss, Roy E

Volltext

Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation von Refetoff, Samuel, Pappa, Theodora, Williams, Meredith K, Matheus, M Gisele, Liao, Xiao-Hui, Hansen, Karen, Nicol, Lindsey, Pierce, Melinda, Blasco, Peter A, Wiebers Jensen, Mandie, Bernal, Juan, Weiss, Roy E, Dumitrescu, Alexandra M, LaFranchi, Stephen

Volltext

Changes in Thyroid Status During Perinatal Development of MCT8-Deficient Male Mice von Ferrara, Alfonso Massimiliano, Liao, Xiao-Hui, Gil-Ibáñez, Pilar, Marcinkowski, Teresa, Bernal, Juan, Weiss, Roy E, Dumitrescu, Alexandra M, Refetoff, Samuel

Volltext