1. Accuracy of antenatal ultrasound signs in predicting the risk for bowel atresia in patients with gastroschisis. (August 2016) Authors: Raia-Barjat, Tiphaine; Stadler, Amandine; Varlet, Marie-Noelle; Fanget, Cécile; Noblot, Edouard; Prieur, Fabienne; Chauleur, Céline; Varlet, François Journal: European journal of obstetrics, gynecology, and reproductive biology Issue: Volume 203(2016:Aug.) Page Start: 116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Accuracy of antenatal ultrasound signs in predicting the risk for bowel atresia in patients with gastroschisis. (August 2016) Authors: Raia-Barjat, Tiphaine; Stadler, Amandine; Varlet, Marie-Noelle; Fanget, Cécile; Noblot, Edouard; Prieur, Fabienne; Chauleur, Céline; Varlet, François Journal: European journal of obstetrics, gynecology, and reproductive biology Issue: Volume 203(2016:Aug.) Page Start: 116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease. (January 2023) Authors: Jiao, Yue; Truong, Thérèse; Eon-Marchais, Séverine; Mebirouk, Noura; Caputo, Sandrine M.; Dondon, Marie-Gabrielle; Karimi, Mojgan; Le Gal, Dorothée; Beauvallet, Juana; Le Floch, Édith; Dandine-Roulland, Claire; Bacq-Daian, Delphine; Olaso, Robert; Albuisson, Juliette; Audebert-Bellanger, Séverine... Journal: European journal of cancer Issue: Volume 179(2023) Page Start: 76 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France. (29th April 2019) Authors: Hureaux, Marguerite; Guterman, Sarah; Hervé, Bérénice; Till, Marianne; Jaillard, Sylvie; Redon, Sylvie; Valduga, Myléne; Coutton, Charles; Missirian, Chantal; Prieur, Fabienne; Simon‐Bouy, Brigitte; Beneteau, Claire; Kuentz, Paul; Rooryck, Caroline; Gruchy, Nicolas; Marle, Nathalie; Plutino, Morg... Journal: Prenatal diagnosis Issue: Volume 39:Number 6(2019) Page Start: 464 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. (8th September 2015) Authors: Courcet, Jean‐Benoît; Minello, Anne; Prieur, Fabienne; Morisse, Laurent; Phelip, Jean‐Marc; Beurdeley, Alain; Meynard, Daniel; Massenet, Denis; Lacassin, Flore; Duffourd, Yannis; Gigot, Nadège; St‐Onge, Judith; Hillon, Patrick; Vanlemmens, Claire; Mousson, Christiane; Cerceuil, Jean‐Pierre; Guiu,... Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3046 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study. Issue 4 (April 2019) Authors: El Hachem, Noha; Abadie, Caroline; Longy, Michel; Colas, Chrystelle; Fert-Ferrer, Sandra; Leroux, Dominique; Grandval, Philippe; Prieur, Fabienne; Collonge-Rame, MarieAgnes; Faivre, Laurence; Fricker, Jean-Pierre; Zerbib, Frank; Coupier, Isabelle; Cauchin, Estelle; Pinson, Stephane; Saurin, Jean ... Journal: Diseases of the colon & rectum Issue: Volume 62:Issue 4(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. Issue 3 (4th August 2020) Authors: Billon, Clarisse; Molin, Arnaud; Poirsier, Céline; Clemenson, Alix; Dauge, Coralie; Grelet, Maude; Sigaudy, Sabine; Patrier, Sophie; Goldenberg, Alice; Layet, Valérie; Tantau, Julia; Fleury, Clémence; Liard, Agnès; Diguet, Alain; Fritih, Radia; Verspyck, Eric; Rendu, John; Boutaud, Lucile; Tessie... Journal: Clinical genetics Issue: Volume 98:Issue 3(2020) Page Start: 261 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients. Issue 5 (27th February 2022) Authors: Chesneau, Bertrand; Aubert‐Mucca, Marion; Fremont, Félix; Pechmeja, Jacmine; Soler, Vincent; Isidor, Bertrand; Nizon, Mathilde; Dollfus, Hélène; Kaplan, Josseline; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Busa, Tiffany; Lacombe, Didier; Naudion, Sophie; Amiel, Jeanne; Rio, Marlène; Attie‐Bitach, Ta... Journal: Clinical genetics Issue: Volume 101:Issue 5/6(2022) Page Start: 494 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Functional classification of ATM variants in ataxia‐telangiectasia patients. Issue 10 (17th May 2019) Authors: Fiévet, Alice; Bellanger, Dorine; Rieunier, Guillaume; Dubois d'Enghien, Catherine; Sophie, Julia; Calvas, Patrick; Carriere, Jean‐Paul; Anheim, Mathieu; Castrioto, Anna; Flabeau, Olivier; Degos, Bertrand; Ewenczyk, Claire; Mahlaoui, Nizar; Touzot, Fabien; Suarez, Felipe; Hully, Marie; Roubertie,... Journal: Human mutation Issue: Volume 40:Issue 10(2019) Page Start: 1713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗