1. Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations. Issue 7 (8th April 2014) Authors: Isidor, Bertrand; Lefebvre, Tiphaine; Le Vaillant, Claudine; Caillaud, Gaëlle; Faivre, Laurence; Jossic, Frédéric; Joubert, Madeleine; Winer, Norbert; Le Caignec, Cédric; Borck, Guntram; Pelet, Anna; Amiel, Jeanne; Toutain, Annick; Ronce, Nathalie; Raynaud, Martine; Verloes, Alain; David, Albert Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1821 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. Issue 12 (16th August 2013) Authors: Lesca, Gaetan; Moizard, Marie‐Pierre; Bussy, Gerald; Boggio, Dominique; Hu, Hao; Haas, Stefan A.; Ropers, Hans‐Hilger; Kalscheuer, Vera M.; Des Portes, Vincent; Labalme, Audrey; Sanlaville, Damien; Edery, Patrick; Raynaud, Martine; Lespinasse, James Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3063 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. Issue 12 (16th August 2013) Authors: Lesca, Gaetan; Moizard, Marie‐Pierre; Bussy, Gerald; Boggio, Dominique; Hu, Hao; Haas, Stefan A.; Ropers, Hans‐Hilger; Kalscheuer, Vera M.; Des Portes, Vincent; Labalme, Audrey; Sanlaville, Damien; Edery, Patrick; Raynaud, Martine; Lespinasse, James Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3063 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Duplication of exon 2 of the GPC3 gene in a case of Simpson‐Golabi‐Behmel syndrome. Issue 1 (8th November 2013) Authors: Cottereau, Edouard; Moizard, Marie‐Pierre; David, Albert; Raynaud, Martine; Marmin, Nadine; Toutain, Annick Journal: American journal of medical genetics Issue: Volume 164:Issue 1(2014.) Page Start: 282 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains. Issue 3 (13th January 2014) Authors: Vanmarsenille, Lieselot; Giannandrea, Maila; Fieremans, Nathalie; Verbeeck, Jelle; Belet, Stefanie; Raynaud, Martine; Vogels, Annick; Männik, Katrin; Õunap, Katrin; Jacqueline, Vigneron; Briault, Sylvain; Van, Hilde; D'Adamo, Patrizia; Froyen, Guy Journal: Human mutation Issue: Volume 35:Issue 3(2014:Mar.) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability. (10th February 2019) Authors: Tastet, Julie; Cuberos, Hélène; Vallée, Béatrice; Toutain, Annick; Raynaud, Martine; Marouillat, Sylviane; Thépault, Rose-Anne; Laumonnier, Frédéric; Bonnet-Brilhault, Frédérique; Vourc'h, Patrick; Andres, Christian R.; Bénédetti, Hélène Journal: Neuroscience Issue: Volume 399(2019) Page Start: 199 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature. Issue 6 (24th April 2018) Authors: Vuillaume, Marie‐Laure; Moizard, Marie‐Pierre; Rossignol, Sylvie; Cottereau, Edouard; Vonwill, Sandrine; Alessandri, Jean‐Luc; Busa, Tiffany; Colin, Estelle; Gérard, Marion; Giuliano, Fabienne; Lambert, Laetitia; Lefevre, Mathilde; Kotecha, Udhaya; Nampoothiri, Sheela; Netchine, Irène; Raynaud, M... Journal: Human mutation Issue: Volume 39:Issue 6(2018) Page Start: 790 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature. Issue 12 (17th September 2018) Authors: Vuillaume, Marie‐Laure; Moizard, Marie‐Pierre; Rossignol, Sylvie; Cottereau, Edouard; Vonwill, Sandrine; Alessandri, Jean‐Luc; Busa, Tiffany; Colin, Estelle; Gérard, Marion; Giuliano, Fabienne; Lambert, Laetitia; Lefevre, Mathilde; Kotecha, Udhaya; Nampoothiri, Sheela; Netchine, Irène; Raynaud, M... Journal: Human mutation Issue: Volume 39:Issue 12(2018) Page Start: 2110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder. Issue 7 (3rd May 2021) Authors: Halewa, Judith; Marouillat, Sylviane; Dixneuf, Manon; Thépault, Rose‐Anne; Ung, Dévina C.; Chatron, Nicolas; Gérard, Bénédicte; Ghoumid, Jamal; Lesca, Gaëtan; Till, Marianne; Smol, Thomas; Couque, Nathalie; Ruaud, Lyse; Chune, Valérie; Grotto, Sarah; Verloes, Alain; Vuillaume, Marie‐Laure; Toutai... Journal: Human mutation Issue: Volume 42:Issue 7(2021) Page Start: 848 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗