De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

Por Elson, E, Perveen, R, Donnai, D, Wall, S, Black, G
Publicado em 2002

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

Por Black, G C, Perveen, R, Hatchwell, E, Reck, A, Clayton-Smith, J
Publicado em 1998

A mutation in the RIEG1 gene associated with Peters' anomaly

Por Doward, W, Perveen, R, Lloyd, I, Ridgway, A, Wilson, L, Black, G
Publicado em 1999

Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family

Por Jamieson, R V, Munier, F, Balmer, A, Farrar, N, Perveen, R, Black, G C M
Publicado em 2003

A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.

Por Dixon, J., Gladwin, A. J., Loftus, S. K., Riley, J. H., Perveen, R., Wasmuth, J. J., Anand, R., Dixon, M. J.
Publicado em 1994

Genotype‐phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

Por Kerr, B, Delrue, M‐A, Sigaudy, S, Perveen, R, Marche, M, Burgelin, I, Stef, M, Tang, B, Eden, O B, O'Sullivan, J, De Sandre‐Giovannoli, A, Reardon, W, Brewer, C, Bennett, C, Quarell, O, M'Cann, E, Donnai, D, Stewart, F, Hennekam, R, Cavé, H, Verloes, A, Philip, N, Lacombe, D, Levy, N, Arveiler, B, Black, G
Publicado em 2006