Search Results - "Signorino, Malvina"

Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism by Geysels, Romina Celeste, Bernal Barquero, Carlos Eduardo, Martín, Mariano, Peyret, Victoria, Nocent, Martina, Sobrero, Gabriela, Muñoz, Liliana, Signorino, Malvina, Testa, Graciela, Castro, Ricardo Belisario, Masini-Repiso, Ana María, Miras, Mirta Beatriz, Nicola, Juan Pablo

“…Congenital iodide transport defect (ITD) is an uncommon cause of dyshormonogenic congenital hypothyroidism characterized by the absence of active iodide…”
Get full text

A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis by Martín, Mariano, Modenutti, Carlos Pablo, Gil Rosas, Mauco Lucas, Peyret, Victoria, Geysels, Romina Celeste, Bernal Barquero, Carlos Eduardo, Sobrero, Gabriela, Muñoz, Liliana, Signorino, Malvina, Testa, Graciela, Miras, Mirta Beatriz, Masini-Repiso, Ana María, Calcaterra, Nora Beatriz, Coux, Gabriela, Carrasco, Nancy, Martí, Marcelo Adrián, Nicola, Juan Pablo

“…Abstract Context Iodide transport defect (ITD) (Online Mendelian Inheritance in Man No. 274400) is an uncommon cause of dyshormonogenic congenital…”
Get full text

Clinical and molecular studies related to bone metabolism in patients with congenital adrenal hyperplasia by Martín, Silvia, Muñoz, Liliana, Pérez, Adriana, Sobrero, Gabriela, Picotto, Gabriela, Ochetti, Mariana, Carpentieri, Agata, Silvano, Liliana, de Barboza, Gabriela Díaz, Signorino, Malvina, Rupérez, Casilda, Bertolotto, Patricia, Ulla, María Rosa, Pellizas, Claudia, Montesinos, María, Tolosa de Talamoni, Nori, Miras, Mirta

“…Patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency need glucocorticoid (GC) therapy, which alters bone mineral metabolism. We…”
Get more information