1. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Issue 2 (17th December 2011) Authors: Molin, A-M; Andrieux, J; Koolen, D A; Malan, V; Carella, M; Colleaux, L; Cormier-Daire, V; David, A; de Leeuw, N; Delobel, B; Duban-Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, F; Krepischi, A C; Le Caignec, C; Ogilvie, C Mackie; Maia, S; Mathieu-Dramard, M Journal: Journal of medical genetics Issue: Volume 49:Issue 2(2012) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. Issue 12 (31st August 2007) Authors: De Gregori, M; Ciccone, R; Magini, P; Pramparo, T; Gimelli, S; Messa, J; Novara, F; Vetro, A; Rossi, E; Maraschio, P; Bonaglia, M C; Anichini, C; Ferrero, G B; Silengo, M; Fazzi, E; Zatterale, A; Fischetto, R; Previderé, C; Belli, S; Turci, A Journal: Journal of medical genetics Issue: Volume 44:Issue 12(2007) Page Start: 750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗