Marfan syndrome in the third Millennium

Por Collod-Béroud, Gwenaëlle, Boileau, Catherine
Publicado em 2002

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Por Desmet, François-Olivier, Hamroun, Dalil, Lalande, Marine, Collod-Béroud, Gwenaëlle, Claustres, Mireille, Béroud, Christophe
Publicado em 2009

UMD‐Predictor: A High‐Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Por Salgado, David, Desvignes, Jean‐Pierre, Rai, Ghadi, Blanchard, Arnaud, Miltgen, Morgane, Pinard, Amélie, Lévy, Nicolas, Collod‐Béroud, Gwenaëlle, Béroud, Christophe
Publicado no Hum Mutat (2016)

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Por Arslan-Kirchner, Mine, Arbustini, Eloisa, Boileau, Catherine, Child, Anne, Collod-Beroud, Gwenaelle, De Paepe, Anne, Epplen, Jörg, Jondeau, Guillaume, Loeys, Bart, Faivre, Laurence
Publicado em 2010

New Topoisomerase I mutations are associated with resistance to camptothecin

Por Gongora, Céline, Vezzio-Vie, Nadia, Tuduri, Sandie, Denis, Vincent, Causse, Annick, Auzanneau, Céline, Collod-Beroud, Gwenaëlle, Coquelle, Arnaud, Pasero, Philippe, Pourquier, Philippe, Martineau, Pierre, Del Rio, Maguy
Publicado em 2011

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

Por Stheneur, Chantal, Collod-Béroud, Gwenaëlle, Faivre, Laurence, Buyck, Jean François, Gouya, Laurent, Le Parc, Jean-Marie, Moura, Bertrand, Muti, Christine, Grandchamp, Bernard, Sultan, Gilles, Claustres, Mireille, Aegerter, Philippe, Chevallier, Bertrand, Jondeau, Guillaume, Boileau, Catherine
Publicado em 2009

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Por Arslan-Kirchner, Mine, Arbustini, Eloisa, Boileau, Catherine, Charron, Philippe, Child, Anne H, Collod-Beroud, Gwenaelle, De Backer, Julie, De Paepe, Anne, Dierking, Anna, Faivre, Laurence, Hoffjan, Sabine, Jondeau, Guillaume, Keyser, Britta, Loeys, Bart, Mayer, Karin, Robinson, Peter N, Schmidtke, Jörg
Publicado no Eur J Hum Genet (2016)

Heterozygous TGFBR2 mutations in Marfan syndrome

Por Mizuguchi, Takeshi, Collod-Beroud, Gwenaëlle, Akiyama, Takushi, Abifadel, Marianne, Harada, Naoki, Morisaki, Takayuki, Allard, Delphine, Varret, Mathilde, Claustres, Mireille, Morisaki, Hiroko, Ihara, Makoto, Kinoshita, Akira, Yoshiura, Koh-ichiro, Junien, Claudine, Kajii, Tadashi, Jondeau, Guillaume, Ohta, Tohru, Kishino, Tatsuya, Furukawa, Yoichi, Nakamura, Yusuke, Niikawa, Norio, Boileau, Catherine, Matsumoto, Naomichi
Publicado em 2004

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Por Carmignac, Virginie, Thevenon, Julien, Adès, Lesley, Callewaert, Bert, Julia, Sophie, Thauvin-Robinet, Christel, Gueneau, Lucie, Courcet, Jean-Benoit, Lopez, Estelle, Holman, Katherine, Renard, Marjolijn, Plauchu, Henri, Plessis, Ghislaine, De Backer, Julie, Child, Anne, Arno, Gavin, Duplomb, Laurence, Callier, Patrick, Aral, Bernard, Vabres, Pierre, Gigot, Nadège, Arbustini, Eloisa, Grasso, Maurizia, Robinson, Peter N., Goizet, Cyril, Baumann, Clarisse, Di Rocco, Maja, Sanchez Del Pozo, Jaime, Huet, Frédéric, Jondeau, Guillaume, Collod-Beroud, Gwenaëlle, Beroud, Christophe, Amiel, Jeanne, Cormier-Daire, Valérie, Rivière, Jean-Baptiste, Boileau, Catherine, De Paepe, Anne, Faivre, Laurence
Publicado em 2012

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Por Le Goff, Carine, Mahaut, Clémentine, Wang, Lauren W., Allali, Slimane, Abhyankar, Avinash, Jensen, Sacha, Zylberberg, Louise, Collod-Beroud, Gwenaelle, Bonnet, Damien, Alanay, Yasemin, Brady, Angela F., Cordier, Marie-Pierre, Devriendt, Koen, Genevieve, David, Kiper, Pelin Özlem Simsek, Kitoh, Hiroshi, Krakow, Deborah, Lynch, Sally Ann, Le Merrer, Martine, Mégarbane, André, Mortier, Geert, Odent, Sylvie, Polak, Michel, Rohrbach, Marianne, Sillence, David, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Rimoin, David L., Topouchian, Vicken, Unger, Sheila, Zabel, Bernhard, Bole-Feysot, Christine, Nitschke, Patrick, Handford, Penny, Casanova, Jean-Laurent, Boileau, Catherine, Apte, Suneel S., Munnich, Arnold, Cormier-Daire, Valérie
Publicado em 2011