1. 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) ↗
2. 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) ↗
3. 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) ↗
4. 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) ↗
5. 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) ↗
6. 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) ↗
7. 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) ↗
8. 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) ↗
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. 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) ↗