1. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Issue 1 (5th October 2022) Authors: Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous‐Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; C... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction. Issue 6 (17th October 2018) Authors: Petre, Graciane; Lorès, Patrick; Sartelet, Hervé; Truffot, Aurélie; Poreau, Brice; Brandeis, Sandrine; Martinez, Guillaume; Satre, Véronique; Harbuz, Radu; Ray, Pierre F.; Amblard, Florence; Devillard, Françoise; Vieville, Gaëlle; Berger, Francois; Jouk, Pierre‐Simon; Vaiman, Daniel; Touré, Amina... Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: 575 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies. Issue 2 (6th November 2015) Authors: Bosson, Caroline; Devillard, Françoise; Satre, Véronique; Dieterich, Klaus; Ray, Pierre F.; Morand, Béatrice; Dubois‐Teklali, Fanny; Vieville, Gaëlle; Andrieux, Joris; Brouillet, Sophie; Amblard, Florence; Jouk, Pierre‐Simon; Coutton, Charles Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum. Issue 3 (15th December 2021) Authors: Vibert, Roseline; Mignot, Cyril; Keren, Boris; Chantot‐Bastaraud, Sandra; Portnoï, Marie‐France; Nouguès, Marie‐Christine; Moutard, Marie‐Laure; Faudet, Anne; Whalen, Sandra; Haye, Damien; Garel, Catherine; Chatron, Nicolas; Rossi, Massimiliano; Vincent‐Delorme, Catherine; Boute, Odile; Delobel, ... Journal: Clinical genetics Issue: Volume 101:Issue 3(2022) Page Start: 307 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients. (2nd June 2020) Authors: Bertacchi, Michele; Romano, Anna Lisa; Loubat, Agnès; Tran Mau‐Them, Frederic; Willems, Marjolaine; Faivre, Laurence; Khau van Kien, Philippe; Perrin, Laurence; Devillard, Françoise; Sorlin, Arthur; Kuentz, Paul; Philippe, Christophe; Garde, Aurore; Neri, Francesco; Di Giaimo, Rossella; Oliviero,... Journal: EMBO journal Issue: Volume 39:Number 13(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis. Issue 5 (12th December 2022) Authors: Ghesh, Leïla; Désir, Julie; Haye, Damien; Le Tanno, Pauline; Devillard, Françoise; Cogné, Benjamin; Marangoni, Martina; Tecco, Laura; Heron, Delphine; Le Vaillant, Claudine; Joubert, Madeleine; Beneteau, Claire Journal: Clinical genetics Issue: Volume 103:Issue 5(2023) Page Start: 560 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Phase advance of circadian rhythms in Smith–Magenis syndrome: A case study in an adult man. (12th January 2015) Authors: Kocher, Laurence; Brun, Jocelyne; Devillard, Françoise; Azabou, Eric; Claustrat, Bruno Journal: Neuroscience letters Issue: Volume 585(2015) Page Start: 144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series. (11th December 2021) Authors: Lesieur‐Sebellin, Marion; Till, Marianne; Khau Van Kien, Philippe; Herve, Bérénice; Bourgon, Nicolas; Dupont, Céline; Tabet, Anne‐Claude; Barrois, Mathilde; Coussement, Aurélie; Loeuillet, Laurence; Mousty, Eve; Ea, Vuthy; El Assal, Amal; Mary, Laura; Jaillard, Sylvie; Beneteau, Claire; Le Vailla... Journal: Prenatal diagnosis Issue: Volume 42:Number 1(2022) Page Start: 118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗