A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment

Por Beby, F, Dieterich, K, Calvas, P
Publicado em 2011

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

Por Chassaing, N, Martin, L, Calvas, P, Le Bert, M, Hovnanian, A
Publicado em 2005

A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36

Por Naiglin, L, Gazagne, C, Dallongeville, F, Thalamas, C, Idder, A, Rascol, O, Malecaze, F, Calvas, P
Publicado em 2002

Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome

Por De Mas, P, Chassaing, N, Chaix, Y, Vincent, M, Julia, S, Bourrouillou, G, Calvas, P, Bieth, E
Publicado em 2002

No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia

Por Tuffery-Giraud, S., Cavalier, L., Roubertie, A., Guittard, C., Carles, S., Calvas, P., Echenne, B., Coubes, P., Claustres, M.
Publicado em 2001

Identification of a new locus for isolated familial keratoconus at 2p24

Por Hutchings, H, Ginisty, H, Le Gallo, M, Levy, D, Stoesser, F, Rouland, J, Arne, J, Lalaux, M, Calvas, P, Roth, M, Hovnanian, A, Malecaze, F
Publicado em 2005

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Por Reynier, P, Amati-Bonneau, P, Verny, C, Olichon, A, Simard, G, Guichet, A, Bonnemains, C, Malecaze, F, Malinge, M, Pelletier, J, Calvas, P, Dollfus, H, Belenguer, P, Malthiery, Y, Lenaers, G, Bonneau, D
Publicado em 2004

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family

Por Mackey, D.A., Hewitt, A.W., Ruddle, J.B., Vote, B., Buttery, R.G., Toomes, C., Metlapally, R., Li, Y.J., Tran-Viet, K.N., Malecaze, F., Calvas, P., Rosenberg, T., Guggenheim, J.A., Young, T.L.
Publicado em 2011