1. 412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders. (October 2012) Authors: Makrythanasis, P; Nelis, M; Santoni, FA; Guipponi, M; Béna, F; Vanier, A; Duriaux-Sail, G; Gimelli, S; Stathaki, E; Falconnet, E; Temtamy, S; Megarbane, A; Aglan, M; Zaki, M; Fokstuen, S; Bottani, A; Masri, A; Psoni, S; Kitsiou, S; Frissyra, H Journal: Archives of disease in childhood Issue: Volume 97(2012)Supplement 2 Page Start: A121 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) ↗
3. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. Issue 3 (15th November 2007) Authors: Rossi, E; Riegel, M; Messa, J; Gimelli, S; Maraschio, P; Ciccone, R; Stroppi, M; Riva, P; Perrotta, C S; Mattina, T; Memo, L; Baumer, A; Kucinskas, V; Castellan, C; Schinzel, A; Zuffardi, O Journal: Journal of medical genetics Issue: Volume 45:Issue 3(2008) Page Start: 147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗