Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours.

por Sedlacek, Z., Kodet, R., Kriz, V., Seemanova, E., Vodvarka, P., Wilgenbus, P., Mares, J., Poustka, A., Goetz, P.
Publicado 1998

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies

por Kessler, K, Falk, N, Wunderlich, I, Fröhlich, M, Hauer, N, Gießl, A, Brandstätter, JH, Sticht, H, Ekici, AB, Uebe, S, Seemanová, E, Reis, A, Roepman, R, Thiel, C
Publicado 2015