1. 'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1). Issue 1 (February 1985) Authors: Plessis, G; Couturier, J; Turleau, C; Despoisses, S; Delavenne, J Journal: Journal of medical genetics Issue: Volume 22:Issue 1(1985) Page Start: 70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. Issue 9 (6th January 2009) Authors: Malan, V; Raoul, O; Firth, H V; Royer, G; Turleau, C; Bernheim, A; Willatt, L; Munnich, A; Vekemans, M; Lyonnet, S; Cormier-Daire, V; Colleaux, L Journal: Journal of medical genetics Issue: Volume 46:Issue 9(2009) Page Start: 635 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. Issue 4 (1st April 2002) Authors: Rio, M; Molinari, F; Heuertz, S; Ozilou, C; Gosset, P; Raoul, O; Cormier-Daire, V; Amiel, J; Lyonnet, S; Le Merrer, M; Turleau, C; de Blois, M-C; Prieur, M; Romana, S; Vekemans, M; Munnich, A; Colleaux, L Journal: Journal of medical genetics Issue: Volume 39:Issue 4(2002) Page Start: 266 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. Issue 8 (1st August 2002) Authors: Faivre, L; Cormier-Daire, V; Lapierre, J M; Colleaux, L; Jacquemont, S; Geneviéve, D; Saunier, P; Munnich, A; Turleau, C; Romana, S; Prieur, M; De Blois, M C; Vekemans, M Journal: Journal of medical genetics Issue: Volume 39:Issue 8(2002) Page Start: 594 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH. (4th November 2012) Authors: Rio, M; Royer, G; Gobin, S; de, MC; Ozilou, C; Bernheim, A; Nizon, M; Munnich, A; Bonnefont, J‐P; Romana, S; Vekemans, M; Turleau, C; Malan, V Journal: Clinical genetics Issue: Volume 84:Number 1(2013:Jul.) Page Start: 31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗