1. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. Issue 11 (28th September 2012) Authors: Legendre, Marine; Gonzales, Marie; Goudefroye, Géraldine; Bilan, Frédéric; Parisot, Pauline; Perez, Marie-José; Bonnière, Maryse; Bessières, Bettina; Martinovic, Jelena; Delezoide, Anne-Lise; Jossic, Frédérique; Fallet-Bianco, Catherine; Bucourt, Martine; Tantau, Julia; Loget, Philippe; Loeuillet... Journal: Journal of medical genetics Issue: Volume 49:Issue 11(2012) Page Start: 698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients. Issue 4 (5th March 2014) Authors: Lehalle, Daphné; Gordon, Christopher T.; Oufadem, Myriam; Goudefroye, Géraldine; Boutaud, Lucile; Alessandri, Jean‐Luc; Baena, Neus; Baujat, Geneviève; Baumann, Clarisse; Boute‐Benejean, Odile; Caumes, Roseline; Decaestecker, Charles; Gaillard, Dominique; Goldenberg, Alice; Gonzales, Marie; Holde... Journal: Human mutation Issue: Volume 35:Issue 4(2014:Apr.) Page Start: 478 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Issue 12 (27th November 2012) Authors: Gordon, Christopher T; Petit, Florence; Oufadem, Myriam; Decaestecker, Charles; Jourdain, Anne-Sophie; Andrieux, Joris; Malan, Valérie; Alessandri, Jean-Luc; Baujat, Geneviève; Baumann, Clarisse; Boute-Benejean, Odile; Caumes, Roseline; Delobel, Bruno; Dieterich, Klaus; Gaillard, Dominique; Gonza... Journal: Journal of medical genetics Issue: Volume 49:Issue 12(2012) Page Start: 737 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases4. (6th July 2016) Authors: Duval, Hélène; Michel‐Calemard, Laurence; Gonzales, Marie; Loget, Philippe; Beneteau, Claire; Buenerd, Annie; Joubert, Madeleine; Denis‐Musquer, Marielee; Clemenson, Alix; Chesnais, Anne‐Laure; Blesson, Sophie; De Pinieux, Isabelle; Delezoide, Anne‐Lise; Bonyhay, Gheorghe; Bellanné‐Chantelot, Chr... Journal: Prenatal diagnosis Issue: Volume 36:Number 8(2016) Page Start: 744 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations. Issue 3 (11th January 2019) Authors: Van‐Gils, Julien; Naudion, Sophie; Toutain, Jérôme; Lancelot, Gwenaelle; Attié‐Bitach, Tania; Blesson, Sophie; Demeer, Bénédicte; Doray, Bérénice; Gonzales, Marie; Martinovic, Jelena; Whalen, Sandra; Taine, Laurence; Arveiler, Benoit; Lacombe, Didier; Fergelot, Patricia Journal: Clinical genetics Issue: Volume 95:Issue 3(2019) Page Start: 420 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses. Issue 4 (28th November 2017) Authors: Alby, Caroline; Boutaud, Lucile; Bonnière, Maryse; Collardeau‐Frachon, Sophie; Guibaud, Laurent; Lopez, Estelle; Bruel, Ange‐Line; Aral, Bernard; Sonigo, Pascale; Roth, Philippe; Vibert‐Guigue, Claude; Castaigne, Vanina; Carbonne, Bruno; Joyé, Nicole; Faivre, Laurence; Cordier, Marie‐Pierre; Bern... Journal: Birth defects research Issue: Volume 110:Issue 4(2018) Page Start: 382 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. Issue 12 (23rd August 2016) Authors: Dubourg, Christèle; Carré, Wilfrid; Hamdi‐Rozé, Houda; Mouden, Charlotte; Roume, Joëlle; Abdelmajid, Benmansour; Amram, Daniel; Baumann, Clarisse; Chassaing, Nicolas; Coubes, Christine; Faivre‐Olivier, Laurence; Ginglinger, Emmanuelle; Gonzales, Marie; Levy‐Mozziconacci, Annie; Lynch, Sally‐Ann; ... Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1329 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. (2nd December 2016) Authors: Miguet, Marguerite; Thevenon, Julien; Laugel, Vincent; Lefebvre, Mathilde; Bourchany, Aurélie; Rivière, Jean‐Baptiste; Duffourd, Yannis; Schaefer, Elise; Antal, Maria Cristina; Abida, Rosalie; Weingertner, Anne‐Sophie; Kremer, Valérie; Vabres, Pierre; Morice‐Picard, Fanny; Gonzales, Marie; Lipske... Journal: Prenatal diagnosis Issue: Volume 36:Number 13(2016) Page Start: 1276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. Issue 4 (12th April 2012) Authors: El Hokayem, Joyce; Huber, Céline; Couvé, Adeline; Aziza, Jacqueline; Baujat, Geneviève; Bouvier, Raymonde; Cavalcanti, Denise P; Collins, Felicity A; Cordier, Marie-Pierre; Delezoide, Anne-Lise; Gonzales, Marie; Johnson, Diana; Le Merrer, Martine; Levy-Mozziconacci, Annie; Loget, Philippe; Martin... Journal: Journal of medical genetics Issue: Volume 49:Issue 4(2012) Page Start: 227 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Outcome of pregnancy following second‐ or third‐trimester intrauterine fetal death. Issue 3 (30th July 2014) Authors: Maignien, Chloé; Nguyen, Amélie; Dussaux, Chloé; Cynober, Evelyne; Gonzales, Marie; Carbonne, Bruno Journal: International journal of gynaecology and obstetrics Issue: Volume 127:Issue 3(2014) Page Start: 275 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗