1. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. Issue 6 (3rd June 2010) Authors: Bonnet, C; Andrieux, J; Béri-Dexheimer, M; Leheup, B; Boute, O; Manouvrier, S; Delobel, B; Copin, H; Receveur, A; Mathieu, M; Thiriez, G; Le Caignec, C; David, A; de Blois, M C; Malan, V; Philippe, A; Cormier-Daire, V; Colleaux, L; Flori, E; Dollfus, H Journal: Journal of medical genetics Issue: Volume 47:Issue 6(2010) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. (18th March 2013) Authors: Callier, P; Aral, B; Hanna, N; Lambert, S; Dindy, H; Ragon, C; Payet, M; Collod‐Beroud, G; Carmignac, V; Delrue, MA; Goizet, C; Philip, N; Busa, T; Dulac, Y; Missotte, I; Sznajer, Y; Toutain, A; Francannet, C; Megarbane, A; Julia, S Journal: Clinical genetics Issue: Volume 84:Number 6(2013:Dec.) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗