Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome

Por Polubothu, S., Scott, R.H., Vabres, P., Kinsler, V.A.
Publicado no Br J Dermatol (2017)

Mutation analysis of the DKC1 gene in incontinentia pigmenti

Por HEISS, N., POUSTKA, A., KNIGHT, S., ARADHYA, S., NELSON, D., LEWIS, R., ESPOSITO, T., CICCODICOLA, A., D'URSO, M., SMAHI, A., HEUERTZ, S., MUNNICH, A., VABRES, P., WOFFENDIN, H., KENWRICK, S.
Publicado em 1999

Mutational spectrum of NSDHL in CHILD syndrome

Por Bornholdt, D, Konig, A, Happle, R, Leveleki, L, Bittar, M, Danarti, R, Vahlquist, A, Tilgen, W, Reinhold, U, Poiares, B, Grosshans, E, Vabres, P, Niiyama, S, Sasaoka, K, Tanaka, T, Meiss, A, Treadwell, P, Lambert, D, Camacho, F, Grzeschik, K
Publicado em 2005

Genotypes and Phenotypes of 162 Families with a Glomulin Mutation

Por Brouillard, P., Boon, L.M., Revencu, N., Berg, J., Dompmartin, A., Dubois, J., Garzon, M., Holden, S., Kangesu, L., Labrèze, C., Lynch, S.A., McKeown, C., Meskauskas, R., Quere, I., Syed, S., Vabres, P., Wassef, M., Mulliken, J.B., Vikkula, M.
Publicado em 2013