1. Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey. Issue 5 (4th January 2016) Authors: Lefebvre, M.; Sanlaville, D.; Marle, N.; Thauvin‐Robinet, C.; Gautier, E.; Chehadeh, S.E.; Mosca‐Boidron, A.‐L.; Thevenon, J.; Edery, P.; Alex‐Cordier, M.‐P.; Till, M.; Lyonnet, S.; Cormier‐Daire, V.; Amiel, J.; Philippe, A.; Romana, S.; Malan, V.; Afenjar, A.; Marlin, S.; Chantot‐Bastaraud, S. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 630 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. (5th April 2013) Authors: Marle, N.; Martinet, D.; Aboura, A.; Joly‐Helas, G.; Andrieux, J.; Flori, E.; Puechberty, J.; Vialard, F.; Sanlaville, D.; Fert Ferrer, S.; Bourrouillou, G.; Tabet, A.C.; Quilichini, B.; Simon‐Bouy, B.; Bazin, A.; Becker, M.; Stora, H.; Amblard, S.; Doco‐Fenzy, M.; Molina Gomes, D. Journal: Clinical genetics Issue: Volume 85:Number 3(2014:Mar.) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus. (1st January 2017) Authors: Kuentz, P.; Fraitag, S.; Gonzales, M.; Dhombres, F.; St‐Onge, J.; Duffourd, Y.; Joyé, N.; Jouannic, J.‐M.; Picard, A.; Marle, N.; Thevenon, J.; Thauvin‐Robinet, C.; Faivre, L.; Rivière, J.‐B.; Vabres, P. Journal: British journal of dermatology Issue: Volume 176:Number 1(2017) Page Start: 204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus. (2nd October 2016) Authors: Kuentz, P.; Fraitag, S.; Gonzales, M.; Dhombres, F.; St‐Onge, J.; Duffourd, Y.; Joyé, N.; Jouannic, J.‐M.; Picard, A.; Marle, N.; Thevenon, J.; Thauvin‐Robinet, C.; Faivre, L.; Rivière, J.‐B.; Vabres, P. Journal: British journal of dermatology Issue: Volume 176:Number 1(2017) Page Start: 204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?. Issue 4 (16th February 2017) Authors: El Chehadeh, S.; Touraine, R.; Prieur, F.; Reardon, W.; Bienvenu, T.; Chantot‐Bastaraud, S.; Doco‐Fenzy, M.; Landais, E.; Philippe, C.; Marle, N.; Callier, P.; Mosca‐Boidron, A.‐L.; Mugneret, F.; Le Meur, N.; Goldenberg, A.; Guerrot, A.‐M.; Chambon, P.; Satre, V.; Coutton, C.; Jouk, P.‐S. Journal: Clinical genetics Issue: Volume 91:Issue 4(2017) Page Start: 576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗