Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature

por Dupuis, Olivier, Delagrange, Laura, Dupuis-Girod, Sophie
Publicado en Orphanet J Rare Dis (2020)

ZEB2, a new candidate gene for asplenia

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

Future treatments for hereditary hemorrhagic telangiectasia

por Robert, Florian, Desroches-Castan, Agnès, Bailly, Sabine, Dupuis-Girod, Sophie, Feige, Jean-Jacques
Publicado en Orphanet J Rare Dis (2020)

Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity

por Zech, Jean-Christophe, Putoux, Audrey, Decullier, Evelyne, Fargeton, Anne-Emmanuelle, Edery, Patrick, Plauchu, Henri, Dupuis-Girod, Sophie
Publicado en J Clin Med (2020)

Pulmonary hypertension in hereditary haemorrhagic telangiectasia is associated with multiple clinical conditions

por Margelidon-Cozzolino, Victor, Cottin, Vincent, Dupuis-Girod, Sophie, Traclet, Julie, Ahmad, Kais, Mornex, Jean-François, Turquier, Ségolène
Publicado en ERJ Open Res (2021)

Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination

por Shovlin, Claire, Bamford, Kathleen, Sabbà, Carlo, Mager, Hans-Jurgen, Kjeldsen, Anette, Droege, Freya, Buscarini, Elisabetta, Dupuis-Girod, Sophie
Publicado en Haematologica (2019)

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 2008

Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia

por Buscarini, Elisabetta, Botella, Luisa Maria, Geisthoff, Urban, Kjeldsen, Anette D., Mager, Hans Jurgen, Pagella, Fabio, Suppressa, Patrizia, Zarrabeitia, Roberto, Dupuis-Girod, Sophie, Shovlin, Claire L.
Publicado en Orphanet J Rare Dis (2019)

Efficacy of TIMOLOL nasal spray as a treatment for epistaxis in hereditary hemorrhagic telangiectasia. A double-blind, randomized, placebo-controlled trial

por Dupuis-Girod, Sophie, Pitiot, Vincent, Bergerot, Cyrille, Fargeton, Anne-Emmanuelle, Beaudoin, Marjolaine, Decullier, Evelyne, Bréant, Valentine, Colombet, Bettina, Philouze, Pierre, Faure, Frédéric, Letievant, Jean-Charles
Publicado en Sci Rep (2019)

Efficacy and Safety of a 0.1% Tacrolimus Nasal Ointment as a Treatment for Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Double-Blind, Randomized, Placebo-Controlled, Multi...

por Dupuis-Girod, Sophie, Fargeton, Anne-Emmanuelle, Grobost, Vincent, Rivière, Sophie, Beaudoin, Marjolaine, Decullier, Evelyne, Bernard, Lorraine, Bréant, Valentine, Colombet, Bettina, Philouze, Pierre, Bailly, Sabine, Faure, Frédéric, Hermann, Ruben
Publicado en J Clin Med (2020)

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia

por Giraud, Sophie, Bardel, Claire, Dupuis-Girod, Sophie, Carette, Marie-France, Gilbert-Dussardier, Brigitte, Riviere, Sophie, Saurin, Jean-Christophe, Eyries, Mélanie, Patri, Sylvie, Decullier, Evelyne, Calender, Alain, Lesca, Gaëtan
Publicado en Orphanet J Rare Dis (2020)

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 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 en 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 en 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 en 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 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 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 en 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 en 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 2012