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. Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes. Issue 3 (18th February 2019) Authors: Mary, Laura; Chennen, Kirsley; Stoetzel, Corinne; Antin, Manuela; Leuvrey, Anne; Nourisson, Elsa; Alanio‐Detton, Elisabeth; Antal, Maria C.; Attié‐Bitach, Tania; Bouvagnet, Patrice; Bouvier, Raymonde; Buenerd, Annie; Clémenson, Alix; Devisme, Louise; Gasser, Bernard; Gilbert‐Dussardier, Brigitte;... Journal: Clinical genetics Issue: Volume 95:Issue 3(2019) Page Start: 384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome. (2nd March 2021) Authors: Masnada, Silvia; Pichiecchio, Anna; Formica, Manuela; Arrigoni, Filippo; Borrelli, Paola; Accorsi, Patrizia; Bonanni, Paolo; Borgatti, Renato; Bernardina, Bernardo Dalla; Danieli, Alberto; Darra, Francesca; Deconinck, Nicolas; De Giorgis, Valentina; Dulac, Olivier; Gataullina, Svetlana; Giordano,... Journal: Neurology Issue: Volume 96:Number 9(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Elucidating in utero fetal demise: time to reassemble the pieces of the puzzle?. (1st November 2020) Authors: Belhomme, Nicolas; Lescoat, Alain; Ballerie, Alice; Rouget, Florence; Le Bouar, Gwenaelle; Loget, Philippe; Caillault, Leïla; Jego, Patrick Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 33:Number 21(2020) Page Start: 3720 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Fetal cerebral hemorrhage due to X‐linked GATA1 gene mutation. (24th July 2018) Authors: Bouchghoul, Hanane; Quelin, Chloé; Loget, Philippe; Encha‐Razavi, Féréchté; Senat, Marie‐Victoire; Maheut, Lorraine; Galimand, Julie; Collardeau‐Frachon, Sophie; Da Costa, Lydie; Martinovic, Jelena Journal: Prenatal diagnosis Issue: Volume 38:Number 10(2018) Page Start: 772 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes. Issue 6 (13th March 2017) Authors: Bruel, Ange-Line; Franco, Brunella; Duffourd, Yannis; Thevenon, Julien; Jego, Laurence; Lopez, Estelle; Deleuze, Jean-François; Doummar, Diane; Giles, Rachel H; Johnson, Colin A; Huynen, Martijn A; Chevrier, Véronique; Burglen, Lydie; Morleo, Manuela; Desguerres, Isabelle; Pierquin, Geneviève; Do... Journal: Journal of medical genetics Issue: Volume 54:Issue 6(2017) Page Start: 371 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases1. (9th December 2016) Authors: Tessier, Aude; Sarreau, Mélie; Pelluard, Fanny; André, Gwenaelle; Blesson, Sophie; Bucourt, Martine; Dechelotte, Pierre; Faivre, Laurence; Frébourg, Thierry; Goldenberg, Alice; Goua, Valérie; Jeanne‐Pasquier, Corinne; Guimiot, Fabien; Laquerriere, Annie; Laurent, Nicole; Lefebvre, Mathilde; Loget... Journal: Prenatal diagnosis Issue: Volume 36:Number 13(2016) Page Start: 1270 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. Issue 6 (30th July 2020) Authors: Lefebvre, Mathilde; Bruel, Ange-Line; Tisserant, Emilie; Bourgon, Nicolas; Duffourd, Yannis; Collardeau-Frachon, Sophie; Attie-Bitach, Tania; Kuentz, Paul; assoum, Mirna; Schaefer, Elise; El Chehadeh, Salima; Antal, Maria Cristina; Kremer, Valérie; Girard-Lemaitre, Françoise; Mandel, Jean-Louis; ... Journal: Journal of medical genetics Issue: Volume 58:Issue 6(2021) Page Start: 400 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Investigating in utero fetal death: outcome of internal medicine consultation. (27th July 2017) Authors: Belhomme, Nicolas; Le Noir De Carlan, Marine; Lescoat, Alain; Le Gallou, Thomas; Rouget, Florence; Loget, Philippe; Jego, Patrick Journal: International journal of rheumatic diseases Issue: Volume 21:Number 2(2018) Page Start: 381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗