檢索結果 - Mélanie Eyries
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Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension 由 Barbara Girerd, David Montani, Mélanie Eyries, Azzedine Yaïci, Benjamin Sztrymf, Florence Coulet, Olivier Sitbon, Gérald Simonneau, Florent Soubrier, Marc Humbert
出版 2010Artigo -
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Familial pulmonary arterial hypertension by <i>KDR</i> heterozygous loss of function 由 Mélanie Eyries, David Montani, Barbara Girerd, Nicolas Favrolt, Marianne Riou, Laurence Faivre, Grégoire Manaud, Frédéric Perros, Stefan Gräf, Nicholas W. Morrell, Marc Humbert, Florent Soubrier
出版 2020Artigo -
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Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with <i>EIF2AK4</i> mutations 由 Pierantonio Laveneziana, David Montani, Peter Dorfmüller, Barbara Girerd, Olivier Sitbon, Xavier Jaïs, Laurent Savale, Mélanie Eyries, Florent Soubrier, Thomas Similowski, Gérald Simonneau, Marc Humbert, Gilles Garcia
出版 2014Carta -
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Genetic counselling in a national referral centre for pulmonary hypertension 由 Barbara Girerd, David Montani, Xavier Jaïs, Mélanie Eyries, Azzedine Yaïci, Benjamin Sztrymf, Laurent Savale, Florence Parent, Florence Coulet, Laurent Godinas, Edmund Lau, Yuichi Tamura, Olivier Sitbon, Florent Soubrier, Gérald Simonneau, Marc Humbert
出版 2015Artigo -
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Outcomes and risk assessment in pulmonary veno-occlusive disease 由 Athénaïs Boucly, Sabina Solinas, Antoine Beurnier, Xavier Jaïs, Sophia Keddache, Mélanie Eyries, Andrei Seferian, Mitja Jevnikar, Anne Roche, Sophie Bulifon, Arnaud Bourdin, Ari Chaouat, Vincent Cottin, Laurent Bertoletti, Laurent Savale, Marc Humbert, Olivier Sitbon, David Montani
出版 2024Artigo -
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A Novel Channelopathy in Pulmonary Arterial Hypertension 由 Lijiang Ma, Danilo Roman‐Campos, Eric D. Austin, Mélanie Eyries, Kevin S. Sampson, Florent Soubrier, Marine Germain, David‐Alexandre Trégouët, Alain Borczuk, Erika B. Rosenzweig, Barbara Girerd, David Montani, Marc Humbert, James E. Loyd, Robert S. Kass, Wendy K. Chung
出版 2013Artigo -
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Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases 由 Mélanie Eyries, David Montani, Sophie Nadaud, Barbara Girerd, Marilyne Lévy, Arnaud Bourdin, Romain Trésorier, Ari Chaouat, Vincent Cottin, C. Sanfiorenzo, Grégoire Prévôt, Martine Reynaud‐Gaubert, Claire Dromer, Ali Houeijeh, Karine Nguyen, Florence Coulet, Damien Bonnet, Marc Humbert, Florent Soubrier
出版 2018Artigo -
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Screening for pulmonary arterial hypertension in adults carrying a <i>BMPR2</i> mutation 由 David Montani, Barbara Girerd, Xavier Jaïs, Pierantonio Laveneziana, Edmund Lau, Amir Bouchachi, Sébastien Hascoët, Sven Günther, Laurent Godinas, Florence Parent, Christophe Guignabert, Antoine Beurnier, D. S. Chemla, Philippe Hervé, Mélanie Eyries, Florent Soubrier, Gérald Simonneau, Olivier Sitbon, Laurent Savale, Marc Humbert
出版 2020Artigo -
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An emerging phenotype of pulmonary arterial hypertension patients carrying<i>SOX17</i>variants 由 David Montani, Benoît Lechartier, Barbara Girerd, Mélanie Eyries, Maria‐Rosa Ghigna, Laurent Savale, Xavier Jaïs, Andrei Seferian, Mitja Jevnikar, Athénaïs Boucly, Marianne Riou, Julie Traclet, Ari Chaouat, Maryline Lévy, Jérôme Le Pavec, Élie Fadel, Frédéric Perros, Florent Soubrier, Martine Rémy‐Jardin, Olivier Sitbon, Damien Bonnet, Marc Humbert
出版 2022Artigo -
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Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA 由 Nicole Revençu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulàlia Baselga, Claudia Cesario, Maria Lisa Dentici, Mélanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene‐Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger‐Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf‐Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
出版 2024Artigo -
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Phenotype and outcome of pulmonary arterial hypertension patients carrying a <i>TBX4</i> mutation 由 Pierre Thoré, Barbara Girerd, Xavier Jaïs, Laurent Savale, Maria‐Rosa Ghigna, Mélanie Eyries, Marilyne Lévy, Caroline Ovaert, Amélie Servettaz, Anne Guillaumot, Claire Dauphin, Céline Chabanne, Emmanuel Boiffard, Vincent Cottin, Frédéric Perros, Gérald Simonneau, Olivier Sitbon, Florent Soubrier, Damien Bonnet, Martine Rémy‐Jardin, Ari Chaouat, Marc Humbert, David Montani
出版 2020Artigo -
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Pulmonary Hypertension in Patients With Neurofibromatosis Type I 由 David Montani, Florence Coulet, Barbara Girerd, Mélanie Eyries, Emmanuel Bergot, Hervé Mal, Giuseppina Biondi, Claire Dromer, Thomas Hugues, Charles‐Hugo Marquette, Caroline O’Connell, Dermot S. O’Callaghan, Laurent Savale, Xavier Jaïs, Peter Dorfmüller, Hugues Bégueret, Laurent Bertoletti, Olivier Sitbon, Christine Bellanné‐Chantelot, Gérard Zalcman, Gérald Simonneau, Marc Humbert, Florent Soubrier
出版 2011Artigo -
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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects 由 Rajiv D. Machado, Laura Southgate, Christina A. Eichstaedt, Micheala A. Aldred, Eric D. Austin, D. Hunter Best, Wendy K. Chung, Nicola Benjamin, C. Gregory Elliott, Mélanie Eyries, Christine Fischer, Stefan Gräf, Katrin Hinderhofer, Marc Humbert, Steven Keiles, James E. Loyd, Nicholas W. Morrell, John H. Newman, Florent Soubrier, Richard C. Trembath, Rebecca R. Viales, Ekkehard Grünig
出版 2015Revisão -
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Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension 由 Marine Germain, Mélanie Eyries, David Montani, Odette Poirier, Barbara Girerd, Peter Dorfmüller, Florence Coulet, Sophie Nadaud, Svetlana Maugenre, Christophe Guignabert, Wassila Carpentier, Anton Vonk Noordegraaf, Marilyne Lévy, Ari Chaouat, Jean‐Charles Lambert, Marion Bertrand, Anne‐Marie Dupuy, Luc Letenneur, Mark Lathrop, Philippe Amouyel, Thomy de Ravel, Marion Delcroix, Eric D. Austin, Ivan M. Robbins, Anna R. Hemnes, James E. Loyd, Erika B. Rosenzweig, Robyn J. Barst, Wendy K. Chung, Gerald Simonneau, David‐Alexandre Trégouët, Marc Humbert, Florent Soubrier
出版 2013Artigo -
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First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease 由 Matina Prapa, Mauro Lago‐Docampo, Emilia M. Swietlik, David Montani, Mélanie Eyries, Marc Humbert, Carrie L. Welch, Wendy K. Chung, Rolf M.F. Berger, Harm Jan Bogaard, Olivier Danhaive, Pilar Escribano Subías, Henning Gall, Barbara Girerd, Ignacio Hernández‐González, Simon Holden, David Hunt, Samara M.A. Jansen, Wilhelmina S. Kerstjens‐Frederikse, David G. Kiely, Pablo Lapunzina, John McDermott, Shahin Moledina, Joanna Pepke‐Żaba, Gary Polwarth, Gwen Schotte, Jair Tenorio, A. A. Roger Thompson, John Wharton, Stephen J. Wort, Karyn Mégy, Rutendo Mapeta, Carmen Treacy, Jennifer M. Martin, Wei Li, Andrew J. Swift, Paul D. Upton, Nicholas W. Morrell, Stefan Gräf, Diana Valverde
出版 2022Artigo -
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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH 由 Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga‐Jauregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Russel Hirsch, R.J. White, Marc A. Simon, David B. Badesch, Erika B. Rosenzweig, Charles D. Burger, Murali M. Chakinala, Thenappan Thenappan, Greg Elliott, Robert W. Simms, Harrison W. Farber, Robert P. Frantz, Jean Elwing, Nicholas S. Hill, D. Dunbar Ivy, James Klinger, Steven D. Nathan, Ronald J. Oudiz, Ivan M. Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric D. Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Ur Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen L. Archer, Rahul Argula, Christopher F. Barnett, Raymond L. Benza, Ankit A. Desai, Veeranna Maddipati, Harm Jan Bogaard, Colin Church, Gerry Coghlin, Robin Condliffe, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gábor Kovács, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Jennifer M. Martin, Shahin Moledina, David Montani, Horst Olschewski, Christopher J. Penkett, Joanna Pepke‐Żaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Laura Southgate, Jay Suntharalingam, Andrew J. Swift, Mark Toshner, Carmen Treacy, Anton Vonk Noordegraaf, John Wharton, Jim M. Wild, Stephen J. Wort, Harm Jan Bogaard, Colin Church, Gerry Coghlin, Robin Condliffe, Mélanie Eyries
出版 2021Artigo -
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Loss-of-Function <i>ABCC8</i> Mutations in Pulmonary Arterial Hypertension 由 Michael S. Bohnen, Lijiang Ma, Na Zhu, Hongjian Qi, Conor McClenaghan, Claudia Gonzaga‐Jauregui, Frederick E. Dewey, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Aris Baras, Kevin J. Sampson, Marta Bleda, Charaka Hadinnapola, Matthias Haimel, Harm Jan Bogaard, Colin Church, Gerry Coghlan, Paul A. Corris, Mélanie Eyries, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Marc Humbert, Christophe Guignabert, David G. Kiely, Allan Lawrie, Rob V. Mackenzie Ross, Jennifer M. Martin, David Montani, Andrew J. Peacock, Joanna Pepke‐Żaba, Florent Soubrier, Jay Suntharalingam, Mark Toshner, Carmen Treacy, Richard C. Trembath, Anton Vonk Noordegraaf, John Wharton, Martin R. Wilkins, Stephen J. Wort, Katherine Yates, Stefan Gräf, Nicholas W. Morrell, Usha Krishnan, Erika B. Rosenzweig, Yufeng Shen, Colin G. Nichols, Robert S. Kass, Wendy K. Chung
出版 2018Artigo -
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Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension 由 Joshua Hodgson, Emilia M. Swietlik, Richard M. Salmon, Charaka Hadinnapola, Ivana Nikolić, John Wharton, Jingxu Guo, James Liley, Matthias Haimel, Marta Bleda, Laura Southgate, Rajiv D. Machado, Jennifer M. Martin, Carmen Treacy, Katherine Yates, Louise C. Daugherty, Olga Shamardina, Deborah Whitehorn, Simon Holden, Harm Jan Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Cesare Danesino, Mélanie Eyries, Henning Gall, Stefano Ghio, Hossein Ardeschir Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Luke Howard, Marc Humbert, David G. Kiely, Gábor Kovács, Allan Lawrie, Robert V. MacKenzie Ross, Shahin Moledina, David Montani, Andrea Olschewski, Horst Olschewski, Willem H. Ouwehand, Andrew J. Peacock, Joanna Pepke‐Żaba, Inga Prokopenko, Christopher J. Rhodes, Laura Scelsi, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark Toshner, Richard C. Trembath, Anton Vonk Noordegraaf, Stephen J. Wort, Martin R. Wilkins, Paul B. Yu, Wei Li, Stefan Gräf, Paul D. Upton, Nicholas W. Morrell
出版 2019Artigo
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BMPR2
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