Genetics of congenital hypothyroidism: Modern concepts

por Stoupa, Athanasia, Kariyawasam, Dulanjalee, Polak, Michel, Carré, Aurore
Publicado 2022

Hes1 Is Required for Appropriate Morphogenesis and Differentiation during Mouse Thyroid Gland Development

por Carre, Aurore, Rachdi, Latif, Tron, Elodie, Richard, Bénédicte, Castanet, Mireille, Schlumberger, Martin, Bidart, Jean-Michel, Szinnai, Gabor, Polak, Michel
Publicado 2011

Borealin/CDCA8 deficiency alters thyroid development and results in papillary tumor-like structures

por Didier-Mathon, Hortense, Stoupa, Athanasia, Kariyawasam, Dulanjalee, Yde, Sonny, Cochant-Priollet, Beatrix, Groussin, Lionel, Sébag, Frédéric, Cagnard, Nicolas, Nitschke, Patrick, Luton, Dominique, Polak, Michel, Carré, Aurore
Publicado 2023

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

por Stoupa, Athanasia, Al Hage Chehade, Ghada, Chaabane, Rim, Kariyawasam, Dulanjalee, Szinnai, Gabor, Hanein, Sylvain, Bole-Feysot, Christine, Fourrage, Cécile, Nitschke, Patrick, Thalassinos, Caroline, Pinto, Graziella, Mnif, Mouna, Baron, Sabine, De Kerdanet, Marc, Reynaud, Rachel, Barat, Pascal, Hachicha, Mongia, Belguith, Neila, Polak, Michel, Carré, Aurore
Publicado 2021

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

por Stoupa, Athanasia, Adam, Frédéric, Kariyawasam, Dulanjalee, Strassel, Catherine, Gawade, Sanjay, Szinnai, Gabor, Kauskot, Alexandre, Lasne, Dominique, Janke, Carsten, Natarajan, Kathiresan, Schmitt, Alain, Bole‐Feysot, Christine, Nitschke, Patrick, Léger, Juliane, Jabot‐Hanin, Fabienne, Tores, Frédéric, Michel, Anita, Munnich, Arnold, Besmond, Claude, Scharfmann, Raphaël, Lanza, François, Borgel, Delphine, Polak, Michel, Carré, Aurore
Publicado 2018