Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Por Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J
Publicado em 2012

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Por Braunholz, Diana, Hullings, Melanie, Gil-Rodríguez, María Concepcion, Fincher, Christopher T, Mallozzi, Mark B, Loy, Elizabeth, Albrecht, Melanie, Kaur, Maninder, Limon, Janusz, Rampuria, Abhinav, Clark, Dinah, Kline, Antonie, Dalski, Andreas, Eckhold, Juliane, Tzschach, Andreas, Hennekam, Raoul, Gillessen-Kaesbach, Gabriele, Wierzba, Jolanta, Krantz, Ian D, Deardorff, Matthew A, Kaiser, Frank J
Publicado em 2012

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Por Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, Paldeep S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.
Publicado em 2014