Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey
Lefebvre, M., Sanlaville, D., Marle, N., Thauvin-Robinet, C., Gautier, E., Chehadeh, S.E., Mosca-Boidron, A.-L., Thevenon, J., Edery, P., Alex-Cordier, M.-P., Till, M., Lyonnet, S., Cormier-Daire, V., Amiel, J., Philippe, A., Romana, S., Malan, V., Afenjar, A., Marlin, S., Chantot-Bastaraud, S., Bitoun, P., Heron, B., Piparas, E., Morice-Picard, F., Moutton, S., Chassaing, N., Vigouroux-Castera, A., Lespinasse, J., Manouvrier-Hanu, S., Boute-Benejean, O., Vincent-Delorme, C., Petit, F., Meur, N.L., Marti-Dramard, M., Guerrot, A.-M., Goldenberg, A., Redon, S., Ferrec, C., Odent, S., Caignec, C.L., Mercier, S., Gilbert-Dussardier, B., Toutain, A., Arpin, S., Blesson, S., Mortemousque, I., Schaefer, E., Martin, D., Philip, N., Sigaudy, S., Busa, T., Missirian, C., Giuliano, F., Benailly, H.K., Kien, P.K.V., Leheup, B., Benneteau, C., Lambert, L., Caumes, R., Kuentz, P., François, I., Heron, D., Keren, B., Cretin, E., Callier, P., Julia, S., Faivre, L.
Published in Clinical genetics (01.05.2016)
Published in Clinical genetics (01.05.2016)
Get full text
Journal Article
New insight in ARX-mutated patients' language specific impairment and underlying FOXP1 dysregulation
Curie, A, Friocourt, G, Bertrand, S, Rochefort, F, Loaëc, N, Reboul, A, Nazir, T, Brun-Laurisse, A, Cheylus, A, Bussy, G, Paulignan, Y, Toutain, A, Mortemousque, I, Gilbert-Dussardier, B, Prieur, F, Touraine, R, Hadjikhani, N, Gollub, R, Bobillier-Chaumont, I, des Portes, V
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
Get full text
Journal Article
Twenty‐five novel mutations including duplications in the ATP7A gene
Moizard, M‐P, Ronce, N, Blesson, S, Bieth, E, Burglen, L, Mignot, C, Mortemousque, I, Marmin, N, Dessay, B, Danesino, C, Feillet, F, Castelnau, P, Toutain, A, Moraine, C, Raynaud, M
Published in Clinical genetics (01.03.2011)
Published in Clinical genetics (01.03.2011)
Get full text
Journal Article
Twenty-five novel mutations including duplications in the ATP7A gene
Moizard, M-P, Ronce, N, Blesson, S, Bieth, E, Burglen, L, Mignot, C, Mortemousque, I, Marmin, N, Dessay, B, Danesino, C, Feillet, F, Castelnau, P, Toutain, A, Moraine, C, Raynaud, M
Published in Clinical genetics (01.03.2011)
Published in Clinical genetics (01.03.2011)
Get full text
Journal Article
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma
Gardie, Betty, Remenieras, Audrey, Kattygnarath, Darouna, Bombled, Johny, Lefèvre, Sandrine, Perrier-Trudova, Victoria, Rustin, Pierre, Barrois, Michel, Slama, Abdelhamid, Avril, Marie-Françoise, Bessis, Didier, Caron, Olivier, Caux, Frédéric, Collignon, Patrick, Coupier, Isabelle, Cremin, Carol, Dollfus, Hélène, Dugast, Catherine, Escudier, Bernard, Faivre, Laurence, Field, Michel, Gilbert-Dussardier, Brigitte, Janin, Nicolas, Leport, Yves, Leroux, Dominique, Lipsker, Dan, Malthieu, Félicia, McGilliwray, Barbara, Maugard, Christine, Méjean, Arnaud, Mortemousque, Isabelle, Plessis, Ghislaine, Poppe, Bruce, Pruvost-Balland, Christelle, Rooker, Serena, Roume, Joelle, Soufir, Nadem, Steinraths, Michelle, Tan, Min-Han, Théodore, Christine, Thomas, Luc, Vabres, Pierre, Van Glabeke, Emmanuel, Meric, Jean-Baptiste, Verkarre, Virginie, Lenoir, Gilbert, Joulin, Virginie, Deveaux, Sophie, Cusin, Veronica, Feunteun, Jean, Teh, Bin Tean, Paillerets, Brigitte Bressac-de, Richard, Stéphane
Published in Journal of medical genetics (01.04.2011)
Published in Journal of medical genetics (01.04.2011)
Get full text
Journal Article
Web Resource
Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study
Garcia, Amandine I, Buisson, Monique, Damiola, Francesca, Tessereau, Chloé, Barjhoux, Laure, Verny-Pierre, Carole, Sornin, Valérie, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Caron, Olivier, Gautier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Vennin, Philippe, Belotti, Muriel, Lortholary, Alain, Gesta, Paul, Dugast, Catherine, Noguès, Catherine, Fricker, Jean-Pierre, Faivre, Laurence, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M, Mazoyer, Sylvie
Published in European journal of human genetics : EJHG (01.08.2016)
Published in European journal of human genetics : EJHG (01.08.2016)
Get full text
Journal Article