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

Por Miras, Mirta, Silvano, Liliana, Campi, Veronica, Ochetti, Mariana, Sobrero, Gabriela, Castro, Laura, Martin, Silvia, Testa, Graciela, Franchioni, Liliana
Publicado no 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

Por 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
Publicado no J Endocr Soc (2019)

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

Por 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
Publicado no 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...

Por 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
Publicado em 2013

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

Por 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
Publicado no J Endocr Soc (2020)