Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

av Little, Hayley J., Rorick, Nicholas K., Su, Ling-I, Baldock, Clair, Malhotra, Saimon, Jowitt, Tom, Gakhar, Lokesh, Subramanian, Ramaswamy, Schutte, Brian C., Dixon, Michael J., Shore, Paul
Publicerad 2009

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

av Little, Hayley J., Rorick, Nicholas K., Su, Ling-I, Baldock, Clair, Malhotra, Saimon, Jowitt, Tom, Gakhar, Lokesh, Subramanian, Ramaswamy, Schutte, Brian C., Dixon, Michael J., Shore, Paul
Publicerad 2009

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

av 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.
Publicerad 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...

av 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.
Publicerad 2009