ZEB2, a new candidate gene for asplenia

Por Pons, Linda, Dupuis-Girod, Sophie, Cordier, Marie-Pierre, Edery, Patrick, Rossi, Massimiliano
Publicado em 2014

Bone morphogenetic protein-9 is a circulating vascular quiescence factor

Por David, Laurent, Mallet, Christine, Keramidas, Michelle, Lamandé, Noël, Gasc, Jean-Marie, Dupuis-Girod, Sophie, Plauchu, Henri, Feige, Jean-Jacques, Bailly, Sabine
Publicado em 2008

ELLIPSE Study: A Phase 1 study evaluating the tolerance of bevacizumab nasal spray in the treatment of epistaxis in hereditary hemorrhagic telangiectasia

Por Dupuis-Girod, Sophie, Ambrun, Alexis, Decullier, Evelyne, Samson, Géraldine, Roux, Adeline, Fargeton, Anne-Emmanuelle, Rioufol, Catherine, Schwiertz, Verane, Disant, François, Chapuis, François, Donazzolo, Yves, Paintaud, Gilles, Edery, Patrick, Faure, Frederic
Publicado em 2014

Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients

Por Guilhem, Alexandre, Fargeton, Anne-Emmanuelle, Simon, Anne-Claire, Duffau, Pierre, Harle, Jean-Robert, Lavigne, Christian, Carette, Marie-France, Bletry, Olivier, Kaminsky, Pierre, Leguy, Vanessa, Lerolle, Nathalie, Roux, Dominique, Lambert, Marc, Chinet, Thierry, Bonnet, Delphine, Dupuis-Girod, Sophie, Rivière, Sophie
Publicado no PLoS One (2017)

Dose – response relationship of bevacizumab in hereditary hemorrhagic telangiectasia

Por Azzopardi, Nicolas, Dupuis-Girod, Sophie, Ternant, David, Fargeton, Anne-Emmanuelle, Ginon, Isabelle, Faure, Frédéric, Decullier, Evelyne, Roux, Adeline, Carette, Marie-France, Gilbert-Dussardier, Brigitte, Hatron, Pierre-Yves, Lacombe, Pascal, Leguy-Seguin, Vanessa, Rivière, Sophie, Corre, Romain, Bailly, Sabine, Paintaud, Gilles
Publicado no MAbs (2015)

Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: Haemodynamic profiles and survival probability

Por Revuz, Sabine, Decullier, Evelyne, Ginon, Isabelle, Lamblin, Nicolas, Hatron, Pierre-Yves, Kaminsky, Pierre, Carette, Marie-France, Lacombe, Pascal, Simon, Anne-Claire, Rivière, Sophie, Harlé, Jean-Robert, Fraisse, Alain, Lavigne, Christian, Leguy-Seguin, Vanessa, Chaouat, Ari, Khouatra, Chahera, Dupuis-Girod, Sophie, Hachulla, Eric
Publicado no PLoS One (2017)

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

Por Courtois, Gilles, Smahi, Asma, Reichenbach, Janine, Döffinger, Rainer, Cancrini, Caterina, Bonnet, Marion, Puel, Anne, Chable-Bessia, Christine, Yamaoka, Shoji, Feinberg, Jacqueline, Dupuis-Girod, Sophie, Bodemer, Christine, Livadiotti, Susanna, Novelli, Francesco, Rossi, Paolo, Fischer, Alain, Israël, Alain, Munnich, Arnold, Deist, Françoise Le, Casanova, Jean-Laurent
Publicado em 2003

Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans

Por Kawasaki, Kyoko, Freimuth, Julia, Meyer, Dominique S., Lee, Marie M., Tochimoto-Okamoto, Akiko, Benzinou, Michael, Clermont, Frederic F., Wu, Gloria, Roy, Ritu, Letteboer, Tom G. W., Ploos van Amstel, Johannes Kristian, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaeten, Westermann, Cornelius J. J., Coffey, Robert J., Akhurst, Rosemary J.
Publicado em 2014

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic tel...

Por Letteboer, Tom G. W., Benzinou, Michael, Merrick, Christopher B., Quigley, David A., Zhau, Kechen, Kim, Il-Jin, To, Minh D., Jablons, David M., van Amstel, Johannes K. P., Westermann, Cornelius J. J., Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Berg, Jonathan H., Balmain, Allan, Akhurst, Rosemary J.
Publicado no Front Genet (2015)

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

Por Barbier, Mathieu, Gross, Marie-Sylvie, Aubart, Mélodie, Hanna, Nadine, Kessler, Ketty, Guo, Dong-Chuan, Tosolini, Laurent, Ho-Tin-Noe, Benoit, Regalado, Ellen, Varret, Mathilde, Abifadel, Marianne, Milleron, Olivier, Odent, Sylvie, Dupuis-Girod, Sophie, Faivre, Laurence, Edouard, Thomas, Dulac, Yves, Busa, Tiffany, Gouya, Laurent, Milewicz, Dianna M., Jondeau, Guillaume, Boileau, Catherine
Publicado no Am J Hum Genet (2014)

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and Hereditary Hemorrhagic Telangiectasia

Por Benzinou, Michael, Clermont, Frederic F., Letteboer, Tom G. W., Kim, Jai-hyun, Espejel, Silvia, Harradine, Kelly A., Arbelaez, Juan, Luu, Minh Thu, Roy, Ritu, Quigley, David, Higgins, Mamie Nakayama, Zaid, Musa, Aouizerat, Bradley E., van Amstel, Johannes Kristian Ploos, Giraud, Sophie, Dupuis-Girod, Sophie, Lesca, Gaetan, Plauchu, Henri, Hughes, Christopher C. W., Westermann, Cornelius J. J., Akhurst, Rosemary J.
Publicado em 2012

International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the Montalcino Aortic Consortium

Por Jondeau, Guillaume, Ropers, Jacques, Regalado, Ellen, Braverman, Alan, Evangelista, Arturo, Teixedo, Guisela, De Backer, Julie, Muiño-Mosquera, Laura, Naudion, Sophie, Zordan, Cecile, Morisaki, Takayuki, Morisaki, Hiroto, Von Kodolitsch, Yskert, Dupuis-Girod, Sophie, Morris, Shaine A., Jeremy, Richmond, Odent, Sylvie, Adès, Leslie C., Bakshi, Madhura, Holman, Katherine, LeMaire, Scott, Milleron, Olivier, Langeois, Maud, Spentchian, Myrtille, Aubart, Melodie, Boileau, Catherine, Pyeritz, Reed, Milewicz, Dianna M.
Publicado no Circ Cardiovasc Genet (2016)

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Por Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véronique, Huet, Frédéric, Plessis, Ghislaine, Andrieux, Joris, Jouk, Pierre-Simon, Billy-Lopez, Gipsy, Coutton, Charles, Morice-Picard, Fanny, Delrue, Marie-Ange, Heron, Delphine, Rooryck, Caroline, Goldenberg, Alice, Saugier-Veber, Pascale, Joly-Hélas, Géraldine, Calenda, Patricia, Kuentz, Paul, Manouvrier-Hanu, Sylvie, Dupuis-Girod, Sophie, Callier, Patrick, Faivre, Laurence
Publicado no Eur J Hum Genet (2016)

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

Por Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony J., Kucuk, Zeynep Yesim, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew R., Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven M., Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita Y., Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin W., Casanova, Jean-Laurent, Orange, Jordan S., Picard, Capucine
Publicado no Blood (2017)