Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder with Skeletal Muscle Hypertrophy and Premature Cardiac Death

Por Xue, Yuan, Schoser, Benedikt, Rao, Aliz R., Quadrelli, Roberto, Vaglio, Alicia, Rupp, Verena, Beichler, Christine, Nelson, Stanley F., Schapacher-Tilp, Gudrun, Windpassinger, Christian, Wilcox, William R.
Publicado no Circ Cardiovasc Genet (2016)

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Por Rock, Matthew J, Prenen, Jean, Funari, Vincent A, Funari, Tara L, Merriman, Barry, Nelson, Stanley F, Lachman, Ralph S, Wilcox, William R, Reyno, Soraya, Quadrelli, Roberto, Vaglio, Alicia, Owsianik, Grzegorz, Janssens, Annelies, Voets, Thomas, Ikegawa, Shiro, Nagai, Toshiro, Rimoin, David L, Nilius, Bernd, Cohn, Daniel H
Publicado em 2008

Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations

Por Basson, Craig T., Huang, Taosheng, Lin, Robert C., Bachinsky, David R., Weremowicz, Stanislawa, Vaglio, Alicia, Bruzzone, Rina, Quadrelli, Roberto, Lerone, Margherita, Romeo, Giovanni, Silengo, Margherita, Pereira, Alexandre, Krieger, Jose, Mesquita, Sonia F., Kamisago, Mitsuhiro, Morton, Cynthia C., Pierpont, Mary Ella M., Müller, Chistoph W., Seidman, J. G., Seidman, Christine E.
Publicado em 1999