11. Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. Issue 7 (27th April 2018) Authors: Quélin, Chloé; Loget, Philippe; Boutaud, Lucile; Elkhartoufi, Nadia; Milon, Joelle; Odent, Sylvie; Fradin, Mélanie; Demurger, Florence; Pasquier, Laurent; Thomas, Sophie; Attié‐Bitach, Tania Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1610 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. 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) ↗
13. New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases. Issue 11 (22nd September 2011) Authors: Mercier, Sandra; Dubourg, Christèle; Garcelon, Nicolas; Campillo-Gimenez, Boris; Gicquel, Isabelle; Belleguic, Marion; Ratié, Leslie; Pasquier, Laurent; Loget, Philippe; Bendavid, Claude; Jaillard, Sylvie; Rochard, Lucie; Quélin, Chloé; Dupé, Valérie; David, Véronique; Odent, Sylvie Journal: Journal of medical genetics Issue: Volume 48:Issue 11(2011) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Non-specific post-mortem modifications on whole-body post-mortem computed tomography in sudden unexpected death in infancy. Issue 1 (March 2015) Authors: Proisy, Maïa; Loget, Philippe; Bouvet, Renaud; Roussey, Michel; Pelé, Fabienne; Rozel, Céline; Treguier, Catherine; Darnault, Pierre; Bruneau, Bertrand Journal: Journal of forensic radiology and imaging Issue: Volume 3:Issue 1(2015) Page Start: 16 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology. (26th October 2014) Authors: Quélin, Chloé; Loget, Philippe; D'Hervé, Dominique; Fradin, Mélanie; Milon, Joëlle; Ferry, Mathilde; Body‐Bechou, Delphine; Tréguier, Catherine; Garcia Hoyos, Maria; Odent, Sylvie Journal: Prenatal diagnosis Issue: Volume 35:Number 2(2015:Feb.) Page Start: 200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. OTX2 mutations contribute to the otocephaly-dysgnathia complex. Issue 6 (10th May 2012) Authors: Chassaing, Nicolas; Sorrentino, Susanna; Davis, Erica E; Martin-Coignard, Dominique; Iacovelli, Anthony; Paznekas, William; Webb, Bryn D; Faye-Petersen, Ona; Encha-Razavi, Férechté; Lequeux, Leopoldine; Vigouroux, Adeline; Yesilyurt, Ahmet; Boyadjiev, Simeon A; Kayserili, Hülya; Loget, Philippe; ... Journal: Journal of medical genetics Issue: Volume 49:Issue 6(2012) Page Start: 373 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects. Issue 7 (13th April 2011) Authors: Jeanpierre, Cécile; Macé, Guillaume; Parisot, Mélanie; Morinière, Vincent; Pawtowsky, Audrey; Benabou, Marion; Martinovic, Jelena; Amiel, Jeanne; Attié-Bitach, Tania; Delezoide, Anne-Lise; Loget, Philippe; Blanchet, Patricia; Gaillard, Dominique; Gonzales, Marie; Carpentier, Wassila; Nitschke, Pa... Journal: Journal of medical genetics Issue: Volume 48:Issue 7(2011) Page Start: 497 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. TCF2/HNF‐1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. (January 2014) Authors: Body‐Bechou, Delphine; Loget, Philippe; D'Herve, Dominique; Le Fiblec, Bernard; Grebille, Anne‐Gaelle; Le Guern, Hélène; Labarthe, Caroline; Redpath, Margaret; Cabaret‐Dufour, Anne‐Sophie; Sylvie, Odent; Fievet, Alice; Antignac, Corinne; Heidet, Laurence; Taque, Sophie; Patrice, Poulain Journal: Prenatal diagnosis Issue: Volume 34:Number 1(2014:Jan.) Page Start: 90 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. Ultrasound Presentation of a Disseminated Fetal and Neonatal Rhabdoid Tumor. (31st January 2018) Authors: Joueidi, Yolaine; Rousselin, Aline; Rozel, Céline; Loget, Philippe; Ranchere Vince, Dominique; Odent, Sylvie; Bourdeaut, Franck; Lavoue, Vincent; Le Lous, Maela Other Names: Cosmi Erich Academic Editor. Journal: Case reports in obstetrics and gynecology Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia. Issue 4 (1st April 1999) Authors: Odent, Sylvie; Loget, Philippe; Le Marec, Bernard; Delezoïde, Anne-Lise; Maroteaux, Pierre Journal: Journal of medical genetics Issue: Volume 36:Issue 4(1999) Page Start: 330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗