Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

Por Belligni, Elga F, Biamino, Elisa, Molinatto, Cristina, Messa, Jole, Pierluigi, Mauro, Faravelli, Francesca, Zuffardi, Orsetta, Ferrero, Giovanni B, Silengo, Margherita Cirillo
Publicado em 2009

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

Por Maini, Ilenia, Ivanovski, Ivan, Iodice, Alessandro, Rosato, Simonetta, Pollazzon, Marzia, Mussini, Manuela, Belligni, Elga F., Coutton, Charles, Marinelli, Maria, Barbieri, Veronica, Napoli, Manuela, Pascarella, Rosario, Sartori, Chiara, Madia, Francesca, Fusco, Carlo, Franchi, Fabrizia, Street, Maria E., Garavelli, Livia
Publicado no Mol Syndromol (2016)

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

Por Palomares, María, Delicado, Alicia, Mansilla, Elena, de Torres, María Luisa, Vallespín, Elena, Fernandez, Luis, Martinez-Glez, Victor, García-Miñaur, Sixto, Nevado, Julián, Simarro, Fernando Santos, Ruiz-Perez, Victor L., Lynch, Sally Ann, Sharkey, Freddie H., Thuresson, Ann-Charlotte, Annerén, Göran, Belligni, Elga F., Martínez-Fernández, María Luisa, Bermejo, Eva, Nowakowska, Beata, Kutkowska-Kazmierczak, Anna, Bocian, Ewa, Obersztyn, Ewa, Martínez-Frías, María Luisa, Hennekam, Raoul C.M., Lapunzina, Pablo
Publicado em 2011