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. Clinical Comparison of Overlapping Deletions of 19p13.3. Issue 5 (22nd April 2013) Authors: Risheg, Hiba; Pasion, Romela; Sacharow, Stephanie; Proud, Virginia; Immken, LaDonna; Schwartz, Stuart; Tepperberg, Jim H.; Papenhausen, Peter; Tan, Tiong Y.; Andrieux, Joris; Plessis, Ghislaine; Amor, David J.; Keitges, Elisabeth A. Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo 15q13.3 microdeletion with cryptogenic west syndrome. Issue 10 (8th August 2013) Authors: Lacaze, Elodie; Gruchy, Nicolas; Penniello‐Valette, Marie‐José; Plessis, Ghislaine; Richard, Nicolas; Decamp, Mathieu; Mittre, Hervé; Leporrier, Nathalie; Andrieux, Joris; Kottler, Marie‐Laure; Gerard, Marion Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2582 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome. Issue 3 (5th November 2015) Authors: Hempel, Annmarie; Pagnamenta, Alistair T; Blyth, Moira; Mansour, Sahar; McConnell, Vivienne; Kou, Ikuyo; Ikegawa, Shiro; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Lo-Castro, Adriana; Plessis, Ghislaine; Albrecht, Beate; Battaglia, Agatino; Taylor, Jenny C; Howard, Malcolm F; Keays, David; Sohal,... Journal: Journal of medical genetics Issue: Volume 53:Issue 3(2016) Page Start: 152 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. 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. Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?. Issue 1 (December 2015) Authors: Ehret, Julia; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Zimmermann, Johannes; Wohlleber, Eva; Grasshoff, Ute; Rossier, Eva; Bonin, Michael; Mangold, Elisabeth; Bevot, Andrea; Schön, Stefanie; Heilmann-Heimbach, Stefanie; Dennert, Nicola; Mathieu-Dramard, Michèle; Lacaze, Elodie; Plessis,... Journal: Molecular cytogenetics Issue: Volume 8:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia12. Issue 4 (7th February 2013) Authors: Plaisancié, Julie; Bailleul‐Forestier, Isabelle; Gaston, Véronique; Vaysse, Fréderic; Lacombe, Didier; Holder‐Espinasse, Muriel; Abramowicz, Marc; Coubes, Christine; Plessis, Ghislaine; Faivre, Laurence; Demeer, Bénédicte; Vincent‐Delorme, Catherine; Dollfus, Hélène; Sigaudy, Sabine; Guillén‐Nava... Journal: American journal of medical genetics Issue: Volume 161:Issue 4(2013:Apr.) Page Start: 671 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Neurofibromatosis‐1 gene deletions and mutations in de novo adult acute myeloid leukemia. Issue 4 (5th March 2013) Authors: Boudry‐Labis, Elise; Roche‐Lestienne, Catherine; Nibourel, Olivier; Boissel, Nicolas; Terre, Christine; Perot, Christine; Eclache, Virginie; Gachard, Nathalie; Tigaud, Isabelle; Plessis, Ghislaine; Cuccuini, Wendy; Geffroy, Sandrine; Villenet, Céline; Figeac, Martin; Leprêtre, Frederic; Rennevill... Journal: American journal of hematology Issue: Volume 88:Issue 4(2013:Apr.) Page Start: 306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. Issue 4 (12th March 2011) Authors: Gardie, Betty; Remenieras, Audrey; Kattygnarath, Darouna; Bombled, Johny; Lefèvre, Sandrine; Perrier-Trudova, Victoria; Rustin, Pierre; Barrois, Michel; Slama, Abdelhamid; Avril, Marie-Françoise; Bessis, Didier; Caron, Olivier; Caux, Frédéric; Collignon, Patrick; Coupier, Isabelle; Cremin, Carol;... Journal: Journal of medical genetics Issue: Volume 48:Issue 4(2011) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗