1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018) Authors: Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ... Journal: Journal of medical genetics Issue: Volume 57:Issue 5(2020) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling. Issue 7 (1st July 1999) Authors: Moncla, Anne; Malzac, Perrine; Livet, Marie-Odile; Voelckel, Marie-Antoinette; Mancini, Josette; Delaroziere, Jean Christophe; Philip, Nicole; Mattei, Jean-François Journal: Journal of medical genetics Issue: Volume 36:Issue 7(1999) Page Start: 554 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. Issue 2 (26th July 2009) Authors: Mignon-Ravix, Cécile; Cacciagli, Pierre; El-Waly, Bilal; Moncla, Anne; Milh, Mathieu; Girard, Nadine; Chabrol, Brigitte; Philip, Nicole; Villard, Laurent Journal: Journal of medical genetics Issue: Volume 47:Issue 2(2010) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Issue 6 (4th April 2018) Authors: Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, O... Journal: Journal of medical genetics Issue: Volume 55:Issue 6(2018) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Growth charts in Kabuki syndrome 1. Issue 3 (26th December 2019) Authors: Ruault, Valentin; Corsini, Carole; Duflos, Claire; Akouete, Sandrine; Georgescu, Véra; Abaji, Mario; Alembick, Yves; Alix, Eudeline; Amiel, Jeanne; Amouroux, Cyril; Barat‐Houari, Mouna; Baumann, Clarisse; Bonnard, Adeline; Boursier, Guilaine; Boute, Odile; Burglen, Lydie; Busa, Tiffany; Cordier, ... Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. Issue 1 (30th September 2015) Authors: El Chehadeh, Salima; Faivre, Laurence; Mosca‐Boidron, Anne‐Laure; Malan, Valérie; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Callier, Patrick; Lefebvre, Mathilde; Marle, Nathalie; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Francannet, Christi... Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Not All Floating‐Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP. Issue 1 (16th October 2012) Authors: Goff, Carine Le; Mahaut, Clémentine; Bottani, Armand; Doray, Berenice; Goldenberg, Alice; Moncla, Anne; Odent, Sylvie; Nitschke, Patrick; Munnich, Arnold; Faivre, Laurence; Cormier‐Daire, Valérie Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 88 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. Issue 12 (25th October 2012) Authors: Courcet, Jean-Benoît; Faivre, Laurence; Malzac, Perrine; Masurel-Paulet, Alice; Lopez, Estelle; Callier, Patrick; Lambert, Laetitia; Lemesle, Martine; Thevenon, Julien; Gigot, Nadège; Duplomb, Laurence; Ragon, Clémence; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Huet, Frédéric; Philippe, Christo... Journal: Journal of medical genetics Issue: Volume 49:Issue 12(2012) Page Start: 731 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗