Genomic Strategy Identifies a Missense Mutation in WD-Repeat Domain 65 (WDR65) in an Individual with Van der Woude Syndrome

Por Rorick, Nicholas K., Kinoshita, Akira, Weirather, Jason, Peyrard-Janvid, Myriam, Ferreira de Lima, Renata L. L., Dunnwald, Martine, Shanske, Alan L., Moretti-Ferreira, Danilo, Koillinen, Hannele, Kere, Juha, Mansilla, Maria A., Murray, Jeffrey C., Goudy, Steve L., Schutte, Brian C.
Publicado em 2011

Prevalence and non-random distribution of exonic mutations in Interferon Regulatory Factor 6 (IRF6) in 307 families with Van der Woude syndrome and 37 families with popliteal ptery...

Por Ferreira de Lima, Renata L. L., Hoper, Sarah A., Ghassibe, Michella, Cooper, Margaret E., Rorick, Nicholas K., Kondo, Shinji, Katz, Lori, Marazita, Mary L., Compton, John, Bale, Sherri, Hehr, Ute, Dixon, Michael J., Daack-Hirsch, Sandra, Boute, Odile, Bayet, Bénédicte, Revencu, Nicole, Verellen-Dumoulin, Christine, Vikkula, Miikka, Richieri-Costa, Antônio, Moretti-Ferreira, Danilo, Murray, Jeffrey C., Schutte, Brian C.
Publicado em 2009

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Por Kondo, Shinji, Schutte, Brian C., Richardson, Rebecca J., Bjork, Bryan C., Knight, Alexandra S., Watanabe, Yoriko, Howard, Emma, Ferreira de Lima, Renata L.L., Daack-Hirsch, Sandra, Sander, Achim, McDonald-McGinn, Donna M., Zackai, Elaine H., Lammer, Edward J., Aylsworth, Arthur S., Ardinger, Holly H., Lidral, Andrew C., Pober, Barbara R., Moreno, Lina, Arcos-Burgos, Mauricio, Valencia, Consuelo, Houdayer, Claude, Bahuau, Michel, Moretti-Ferreira, Danilo, Richieri-Costa, Antonio, Dixon, Michael J., Murray, Jeffrey C.
Publicado em 2002