Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

Por Gamba, Bruno F., Zechi-Ceide, Roseli M., Kokitsu-Nakata, Nancy M., Vendramini-Pittoli, Siulan, Rosenberg, Carla, Krepischi Santos, Ana C.V., Ribeiro-Bicudo, Lucilene, Richieri-Costa, Antonio
Publicado no Mol Syndromol (2016)

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

Por Romanelli Tavares, Vanessa L, Gordon, Christopher T, Zechi-Ceide, Roseli M, Kokitsu-Nakata, Nancy Mizue, Voisin, Norine, Tan, Tiong Y, Heggie, Andrew A, Vendramini-Pittoli, Siulan, Propst, Evan J, Papsin, Blake C, Torres, Tatiana T, Buermans, Henk, Capelo, Luciane Portas, den Dunnen, Johan T, Guion-Almeida, Maria L, Lyonnet, Stanislas, Amiel, Jeanne, Passos-Bueno, Maria Rita
Publicado no Eur J Hum Genet (2015)

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

Por Favaro, Francine P., Alvizi, Lucas, Zechi-Ceide, Roseli M., Bertola, Debora, Felix, Temis M., de Souza, Josiane, Raskin, Salmo, Twigg, Stephen R.F., Weiner, Andrea M.J., Armas, Pablo, Margarit, Ezequiel, Calcaterra, Nora B., Andersen, Gregers R., McGowan, Simon J., Wilkie, Andrew O.M., Richieri-Costa, Antonio, de Almeida, Maria L.G., Passos-Bueno, Maria Rita
Publicado em 2014

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Por Twigg, Stephen R.F., Babbs, Christian, van den Elzen, Marijke E.P., Goriely, Anne, Taylor, Stephen, McGowan, Simon J., Giannoulatou, Eleni, Lonie, Lorne, Ragoussis, Jiannis, Akha, Elham Sadighi, Knight, Samantha J.L., Zechi-Ceide, Roseli M., Hoogeboom, Jeannette A.M., Pober, Barbara R., Toriello, Helga V., Wall, Steven A., Rita Passos-Bueno, M., Brunner, Han G., Mathijssen, Irene M.J., Wilkie, Andrew O.M.
Publicado em 2013