1. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. Issue 8 (23rd July 2010) Authors: El Chehadeh, Salima; Aral, Bernard; Gigot, Nadège; Thauvin-Robinet, Christel; Donzel, Anne; Delrue, Marie-Ange; Lacombe, Didier; David, Albert; Burglen, Lydie; Philip, Nicole; Moncla, Anne; Cormier-Daire, Valérie; Rio, Marlène; Edery, Patrick; Verloes, Alain; Bonneau, Dominique; Afenjar, Alexandr... Journal: Journal of medical genetics Issue: Volume 47:Issue 8(2010) Page Start: 549 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. Issue 11 (17th February 2011) Authors: El Chehadeh-Djebbar, Salima; Faivre, Laurence; Moncla, Anne; Aral, Bernard; Missirian, Chantal; Popovici, Cornel; Rump, Patrick; Van Essen, Anthonie; Frances, Anne-Marie; Gigot, Nadège; Cusin, Veronica; Masurel-Paulet, Alice; Gueneau, Lucie; Payet, Muriel; Ragon, Clémence; Marle, Nathalie; Mosca-... Journal: Journal of medical genetics Issue: Volume 48:Issue 11(2011) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗