Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing

Por Vieira, Társis Paiva, Sgardioli, Ilária Cristina, Gil-da-Silva-Lopes, Vera Lúcia
Publicado em 2012

Maternally Inherited Partial Monosomy 9p (pter → p24.1) and Partial Trisomy 20p (pter → p12.1) Characterized by Microarray Comparative Genomic Hybridization

Por Freitas, Érika L., Gribble, Susan M., Simioni, Milena, Vieira, Társis P., Silva-Grecco, Roseane L., Balarin, Marly A. S., Prigmore, Elena, Krepischi-Santos, Ana C., Rosenberg, Carla, Szuhai, Karoly, van Haeringen, Arie, Carter, Nigel P., Gil-da-Silva-Lopes, Vera Lúcia
Publicado em 2011

Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate

Por Araújo, Tânia Kawasaki, Simioni, Milena, Félix, Têmis Maria, de Souza, Liliane Todeschini, Fontes, Marshall Ítalo Barros, Monlleó, Isabella Lopes, Souza, Josiane, Fett-Conte, Agnes Cristina, Secolin, Rodrigo, Lopes-Cendes, Iscia, Maurer-Morelli, Cláudia Vianna, Gil-da-Silva-Lopes, Vera Lúcia
Publicado em 2012

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Por Gerber, Sylvie, Alzayady, Kamil J., Burglen, Lydie, Brémond-Gignac, Dominique, Marchesin, Valentina, Roche, Olivier, Rio, Marlène, Funalot, Benoit, Calmon, Raphaël, Durr, Alexandra, Gil-da-Silva-Lopes, Vera Lucia, Ribeiro Bittar, Maria Fernanda, Orssaud, Christophe, Héron, Bénédicte, Ayoub, Edward, Berquin, Patrick, Bahi-Buisson, Nadia, Bole, Christine, Masson, Cécile, Munnich, Arnold, Simons, Matias, Delous, Marion, Dollfus, Helene, Boddaert, Nathalie, Lyonnet, Stanislas, Kaplan, Josseline, Calvas, Patrick, Yule, David I., Rozet, Jean-Michel, Fares Taie, Lucas
Publicado no Am J Hum Genet (2016)