Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease
Germain, Dominique P., Levade, Thierry, Hachulla, Eric, Knebelmann, Bertrand, Lacombe, Didier, Seguin, Vanessa Leguy, Nguyen, Karine, Noël, Esther, Rabès, Jean‐Pierre
Published in Clinical genetics (01.04.2022)
Published in Clinical genetics (01.04.2022)
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Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: A national, randomized multicenter trial
Dupuis-Girod, Sophie, Rivière, Sophie, Lavigne, Christian, Fargeton, Anne-Emmanuelle, Gilbert-Dussardier, Brigitte, Grobost, Vincent, Leguy-Seguin, Vanessa, Maillard, Hélène, Mohamed, Shirine, Decullier, Evelyne, Roux, Adeline, Bernard, Lorraine, Saurin, Jean-Christophe, Saroul, Nicolas, Faure, Frédéric, Cartier, Cesar, Altwegg, Romain, Laccourreye, Laurent, Oberti, Frédéric, Beaudoin, Marjolaine, Dhelens, Carole, Desvignes, Céline, Azzopardi, Nicolas, Paintaud, Gilles, Hermann, Ruben, Chinet, Thierry
Published in Journal of internal medicine (01.12.2023)
Published in Journal of internal medicine (01.12.2023)
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Iodoacetamide blank compensation in FXIII functional assays: Is it still necessary?
Savard, Philippe, Leguy-Seguin, Vanessa, Chavy, Camille, Genre-Volot, Fabienne, Callegarin, Anamaria, Amiral, Jean, Bonnotte, Bernard, Lecompte, Thomas, de Maistre, Emmanuel
Published in International journal of laboratory hematology (01.12.2023)
Published in International journal of laboratory hematology (01.12.2023)
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Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3‐related CD27 expression in CD4 T cells in Fabry disease
Mauhin, Wladimir, Dzangue‐Tchoupou, Gaelle, Amelin, Damien, Corneau, Aurélien, Lamari, Foudil, Allenbach, Yves, Dussol, Bertrand, Leguy‐Seguin, Vanessa, D'Halluin, Pauline, Matignon, Marie, Maillot, François, Ly, Kim‐Heang, Besson, Gérard, Willems, Marjolaine, Labombarda, Fabien, Masseau, Agathe, Lavigne, Christian, Lacombe, Didier, Maillard, Hélène, Lidove, Olivier, Benveniste, Olivier
Published in Journal of inherited metabolic disease (01.07.2024)
Published in Journal of inherited metabolic disease (01.07.2024)
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Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients
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
Published in PloS one (30.11.2017)
Published in PloS one (30.11.2017)
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Germain, Dominique P., Levade, Thierry, Hachulla, Eric, Knebelmann, Bertrand, Lacombe, Didier, Seguin, Vanessa Leguy, Nguyen, Karine, Noël, Esther, Rabès, Jean‐Pierre
Published in Clinical genetics (01.04.2022)
Published in Clinical genetics (01.04.2022)
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Immunologic effects of rituximab on the human spleen in immune thrombocytopenia
Audia, Sylvain, Samson, Maxime, Guy, Julien, Janikashvili, Nona, Fraszczak, Jennifer, Trad, Malika, Ciudad, Marion, Leguy, Vanessa, Berthier, Sabine, Petrella, Tony, Aho-Glélé, Serge, Martin, Laurent, Maynadié, Marc, Lorcerie, Bernard, Rat, Patrick, Cheynel, Nicolas, Katsanis, Emmanuel, Larmonier, Nicolas, Bonnotte, Bernard
Published in Blood (20.10.2011)
Published in Blood (20.10.2011)
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Venous thromboembolic events during warm autoimmune hemolytic anemia
Audia, Sylvain, Bach, Benoit, Samson, Maxime, Lakomy, Daniela, Bour, Jean-Baptiste, Burlet, Bénédicte, Guy, Julien, Duvillard, Laurence, Branger, Marine, Leguy-Seguin, Vanessa, Berthier, Sabine, Michel, Marc, Bonnotte, Bernard
Published in PloS one (08.11.2018)
Published in PloS one (08.11.2018)
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Diagnostic and predictive value of skin testing in platinum salt hypersensitivity
Leguy-Seguin, Vanessa, MD, Jolimoy, Genevieve, MD, Coudert, Bruno, MD, Pernot, Corine, MD, Dalac, Sophie, MD, Vabres, Pierre, MD, Collet, Evelyne, MD
Published in Journal of allergy and clinical immunology (01.03.2007)
Published in Journal of allergy and clinical immunology (01.03.2007)
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A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher Disease
Serratrice, Christine, Stirnemann, Jérôme, Berrahal, Amina, Belmatoug, Nadia, Camou, Fabrice, Caillaud, Catherine, Billette de Villemeur, Thierry, Dalbies, Florence, Cador, Bérengère, Froissart, Roseline, Masseau, Agathe, Brassier, Anaïs, Hivert, Bénédicte, Swiader, Laure, Bertchansky, Ivan, de Moreuil, Claire, Chabrol, Brigitte, Durieu, Isabelle, Leguy Seguin, Vanessa, Astudillo, Leonardo, Humbert, Sébastien, Pichard, Samia, Marcel, Catherine, Hau Rainsard, Isabelle, Bengherbia, Monia, Yousfi, Karima, Berger, Marc G.
Published in Journal of clinical medicine (22.07.2020)
Published in Journal of clinical medicine (22.07.2020)
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Clinical phenotype of adult-onset systemic histiocytosis harboring BRAF in-frame deletions
Papo, Matthias, Razanamahéry, Jérôme, Da Silva, Malik, Hélias-Rodzewicz, Zofia, Potapenko, Vsevolod, Bota, Suzanna, Leguy-Seguin, Vanessa, Dominique, Stéphane, Lhote, Raphaël, Moyon, Quentin, Taïeb, Dov, Abrassart, Tom, Campana, Marion, Keo, Visal, Rivière, Etienne, Lucidarme, Olivier, Cohen-Aubart, Fleur, Amoura, Zahir, Haroche, Julien, Emile, Jean-François
Published in Haematologica (Roma) (01.09.2024)
Published in Haematologica (Roma) (01.09.2024)
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Efficacy and safety of dapsone as second line therapy for adult immune thrombocytopenia: A retrospective study of 42 patients
Estève, Clémentine, Samson, Maxime, Guilhem, Alexandre, Nicolas, Barbara, Leguy-Seguin, Vanessa, Berthier, Sabine, Bonnotte, Bernard, Audia, Sylvain
Published in PloS one (30.10.2017)
Published in PloS one (30.10.2017)
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Splenic TFH expansion participates in B-cell differentiation and antiplatelet-antibody production during immune thrombocytopenia
Audia, Sylvain, Rossato, Marzia, Santegoets, Kim, Spijkers, Sanne, Wichers, Catharina, Bekker, Cornelis, Bloem, Andries, Boon, Louis, Flinsenberg, Thijs, Compeer, Ewoud, van den Broek, Theo, Facy, Olivier, Ortega-Deballon, Pablo, Berthier, Sabine, Leguy-Seguin, Vanessa, Martin, Laurent, Ciudad, Marion, Samson, Maxime, Trad, Malika, Lorcerie, Bernard, Janikashvili, Nona, Saas, Philippe, Bonnotte, Bernard, Radstake, Timothy R.D.J.
Published in Blood (30.10.2014)
Published in Blood (30.10.2014)
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Psychiatric adult-onset of urea cycle disorders: A case-series
Bigot, Adrien, Brunault, Paul, Lavigne, Christian, Feillet, François, Odent, Sylvie, Kaphan, Elsa, Thauvin, Christel, Leguy, Vanessa, Broué, Pierre, Tchan, Michel C., Maillot, François
Published in Molecular genetics and metabolism reports (01.09.2017)
Published in Molecular genetics and metabolism reports (01.09.2017)
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Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT
Le, Thi Thao Truc, Martinent, Guillaume, Dupuis-Girod, Sophie, Parrot, Antoine, Contis, Anne, Riviere, Sophie, Chinet, Thierry, Grobost, Vincent, Espitia, Olivier, Dussardier-Gilbert, Brigitte, Alric, Laurent, Armengol, Guillaume, Maillard, Hélène, Leguy-Seguin, Vanessa, Leroy, Sylvie, Rondeau-Lutz, Murielle, Lavigne, Christian, Mohamed, Shirine, Chaussavoine, Laurent, Magro, Pascal, Seguier, Julie, Kerjouan, Mallorie, Fourdrinoy, Sylvie
Published in Orphanet journal of rare diseases (19.07.2022)
Published in Orphanet journal of rare diseases (19.07.2022)
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Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease
Mauhin, Wladimir, Benveniste, Olivier, Amelin, Damien, Montagner, Clémence, Lamari, Foudil, Caillaud, Catherine, Douillard, Claire, Dussol, Bertrand, Leguy-Seguin, Vanessa, D'Halluin, Pauline, Noel, Esther, Zenone, Thierry, Matignon, Marie, Maillot, François, Ly, Kim-Heang, Besson, Gérard, Willems, Marjolaine, Labombarda, Fabien, Masseau, Agathe, Lavigne, Christian, Lacombe, Didier, Maillard, Hélène, Lidove, Olivier
Published in PloS one (22.05.2020)
Published in PloS one (22.05.2020)
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Pro-angiogenic changes of T-helper lymphocytes in hereditary hemorrhagic telangiectasia
Guilhem, Alexandre, Ciudad, Marion, Aubriot-Lorton, Marie-Hélène, Greigert, Hélène, Cladière, Claudie, Leguy-Seguin, Vanessa, Audia, Sylvain, Samson, Maxime, Bonnotte, Bernard
Published in Frontiers in immunology (2023)
Published in Frontiers in immunology (2023)
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Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: Haemodynamic profiles and survival probability
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
Published in PloS one (05.10.2017)
Published in PloS one (05.10.2017)
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Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry
Nguyen, Yann, Stirnemann, Jérôme, Lautredoux, Florent, Cador, Bérengère, Bengherbia, Monia, Yousfi, Karima, Hamroun, Dalil, Astudillo, Leonardo, Billette de Villemeur, Thierry, Brassier, Anaïs, Camou, Fabrice, Dalbies, Florence, Dobbelaere, Dries, Gaches, Francis, Leguy-Seguin, Vanessa, Masseau, Agathe, Pers, Yves-Marie, Pichard, Samia, Serratrice, Christine, Berger, Marc G, Fantin, Bruno, Belmatoug, Nadia, On Behalf Of The French Evaluation Of Gaucher Disease Treatment Committee
Published in International journal of molecular sciences (13.02.2020)
Published in International journal of molecular sciences (13.02.2020)
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