Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors

Por Bae, Gyu-Un, Domené, Sabina, Roessler, Erich, Schachter, Karen, Kang, Jong-Sun, Muenke, Maximilian, Krauss, Robert S.
Publicado em 2011

A Novel SIX3 Mutation Segregates With Holoprosencephaly in a Large Family

Por Solomon, Benjamin D., Lacbawan, Felicitas, Jain, Mahim, Domené, Sabina, Roessler, Erich, Moore, Cynthia, Dobyns, William B., Muenke, Maximilian
Publicado em 2009

Enhancer turnover and conserved regulatory function in vertebrate evolution

Por Domené, Sabina, Bumaschny, Viviana F., de Souza, Flávio S. J., Franchini, Lucía F., Nasif, Sofía, Low, Malcolm J., Rubinstein, Marcelo
Publicado em 2013

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

Por Domené, Sabina, Roessler, Erich, El-Jaick, Kenia B., Snir, Mirit, Brown, Jamie L., Vélez, Jorge I., Bale, Sherri, Lacbawan, Felicitas, Muenke, Maximilian, Feldman, Benjamin
Publicado em 2008

Unraveling the Molecular Players at the Cholinergic Efferent Synapse of the Zebrafish Lateral Line

Por Carpaneto Freixas, Agustín E., Moglie, Marcelo J., Castagnola, Tais, Salatino, Lucia, Domene, Sabina, Marcovich, Irina, Gallino, Sofia, Wedemeyer, Carolina, Goutman, Juan D., Plazas, Paola V., Elgoyhen, Ana Belén
Publicado no J Neurosci (2021)

MON-716 A Novel Human Heterozygous STAT5B Variant Leads to Impaired Growth and Developmental Defects in Zebrafish Embryos

Por Landi, Estefania, Karabatas, Liliana, Ramirez, Laura, Gutierrez, Mariana, Scaglia, Paula Alejandra, Keselman, Ana Claudia, Braslavsky, Debora, Sanguineti, Nora, Bergada, Ignacio, Jasper, Hector Guillermo, Domene, Horacio M, Plazas, Paola, Domene, Sabina
Publicado no J Endocr Soc (2020)

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

Por Gutiérrez, Mariana, Scaglia, Paula, Keselman, Ana, Martucci, Lucía, Karabatas, Liliana, Domené, Sabina, Martin, Ayelen, Pennisi, Patricia, Blanco, Miguel, Sanguineti, Nora, Bezrodnik, Liliana, Giovanni, Daniela Di, Caldirola, María Soledad, Azcoiti, María Esnaola, Gaillard, María Isabel, Denson, Lee A., Zhang, Kejian, Husami, Ammar, Jones, Nana-Hawa Yayah, Hwa, Vivian, Revale, Santiago, Vázquez, Martín, Jasper, Héctor, Kumar, Ashish, Domené, Horacio
Publicado no Mol Cell Endocrinol (2018)