MON-LB047 GH Values in Serum and Blood Spots on Filter Paper Samples in Infants until 60 Days of Life by Electrochemiluminescence (ECLIA)

по Miras, Mirta, Silvano, Liliana, Campi, Veronica, Ochetti, Mariana, Sobrero, Gabriela, Castro, Laura, Martin, Silvia, Testa, Graciela, Franchioni, Liliana
Опубликовано в: J Endocr Soc (2019)

SUN-034 Genetic Diagnosis of Congenital Isolated or Combined Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel

по NAKAGUMA, MARILENA, Correa, Fernanda, Santana, Lucas, Figueredo Benedetti, Anna, Perez, Ricardo, Huayllas, Martha, Miras, Mirta, Funari, Mariana, Antonio, Lerario, Mendonca, Berenice, Carvalho, Luciani, Jorge, Alexander, Arnhold, Ivo
Опубликовано в: J Endocr Soc (2019)

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

по Nakaguma, Marilena, Correa, Fernanda A, Santana, Lucas S, Benedetti, Anna F F, Perez, Ricardo V, Huayllas, Martha K P, Miras, Mirta B, Funari, Mariana F A, Lerario, Antonio M, Mendonca, Berenice B, Carvalho, Luciani R S, Jorge, Alexander A L, Arnhold, Ivo J P
Опубликовано в: Endocr Connect (2019)

Effect of the parental origin of the X-chromosome on the clinical features, associated complications, the two-year-response to growth hormone (rhGH) and the biochemical profile in...

по Álvarez-Nava, Francisco, Lanes, Roberto, Quintero, José Miguel, Miras, Mirta, Fideleff, Hugo, Mericq, Verónica, Marcano, Henry, Zabala, William, Soto, Marisol, Pardo, Tatiana, Borjas, Lisbeth, Villalobos, Joalice, Gunczler, Peter, Unanue, Nancy, Tkalenko, Natalia, Boyanofsky, Adriana, Silvano, Liliana, Franchioni, Liliana, Llano, Miriam, Fideleff, Gabriel, Azaretzky, Miriam, Suarez, Martha
Опубликовано 2013

MON-717 Novel GLI2 Mutations Identified in Pediatric Patients with Combined Pituitary Hormone Deficiency: One Gene, Various Genotypes

по Vishnopolska, Sebastian A, Braslavsky, Debora, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana M, Ramirez, Pablo C, Natalia, Perez Garrido, Ciaccio, Marta, Palma, María I Di, Belgorosky, Alicia, Miras, Mirta, Nicola, Juan P, Mortensen, Amanda Helen, Martí, Marcelo A, Camper, Sally Ann, Kitzman, Jacob, Perez Millán, Maria I
Опубликовано в: J Endocr Soc (2020)

A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis

по 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
Опубликовано в: J Clin Endocrinol Metab (2021)

Novel Pathogenic Variants in LHX3, LHX4 and GLI2 Identified in Pediatric Patients With Congenital Hypopituitarism: From Variant Calling To Variant Testing

по Vishnopolska, Sebastian, Mercogliano, María Florencia, Camilletti, Maria Andrea, Mortensen, Amanda Helen, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana Marcela, Ramirez, Pablo, Garrido, Natalia Perez, Ciaccio, Marta, Di Palma, María Isabel, Belgorosky, Alicia, Miras, Mirta, Nicola, Juan Pablo, Marti, Marcelo, Kitzman, Jacob, Camper, Sally Ann, Perez-Millan, Maria Ines
Опубликовано в: J Endocr Soc (2021)