Hakutulokset - Mélodie Aubart

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  1. 1
    The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

    The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele Tekijä Mélodie Aubart, Marie‐Sylvie Gross, Nadine Hanna, M. T. Zabot, M. Sznajder, Delphine Détaint, Laurent Gouya, Guillaume Jondeau, Cathérine Boileau, Chantal Stheneur

    Julkaistu 2015
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  2. 2
    Severe paediatric conditions linked with EV-A71 and EV-D68, France, May to October 2016

    Severe paediatric conditions linked with EV-A71 and EV-D68, France, May to October 2016 Tekijä Denise Antona, Manoëlle Kossorotoff, Isabelle Schuffenecker, Audrey Mirand, Marianne Leruez‐Ville, Clément Bassi, Mélodie Aubart, Florence Moulin, D Lévy-Brühl, Cécile Henquell, Bruno Lina, Isabelle Desguerre

    Julkaistu 2016
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  3. 3
    Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

    Association of modifiers and other genetic factors explain Marfan syndrome clinical variability Tekijä Mélodie Aubart, Steven Gazal, Pauline Arnaud, Louise Benarroch, Marie‐Sylvie Gross, Julien Buratti, Anne Boland, Vincent Meyer, Habib Zouali, Nadine Hanna, Olivier Milleron, Chantal Stheneur, Thomas Bourgeron, Isabelle Desguerre, Marie‐Paule Jacob, Laurent Gouya, Emmanuelle Génin, Jean‐François Deleuze, Guillaume Jondeau, Cathérine Boileau

    Julkaistu 2018
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  4. 4
    Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

    Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD) Tekijä Pauline Arnaud, Nadine Hanna, Louise Benarroch, Mélodie Aubart, Laurence Bal, Patrice Bouvagnet, Tiffany Busa, Yves Dulac, Sophie Dupuis‐Girod, Thomas Édouard, Laurence Faivre, Laurent Gouya, Didier Lacombe, Maud Langeois, Bruno Leheup, Olivier Milleron, Sophie Naudion, Sylvie Odent, Maria Tchitchinadze, Jacques Ropers, Guillaume Jondeau, Cathérine Boileau

    Julkaistu 2019
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  5. 5
    Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

    Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition Tekijä Mélodie Aubart, Delphine Gobert, F. Aubart-Cohen, Delphine Détaint, Nadine Hanna, d’Indya Hyacintha, Lequintrec Janine-Sophie, P Renard, Anne-Marie Vigneron, Philippe Dieudé, Jean‐Pierre Laissy, Pierre Koch, Christine Muti, J. Roume, Véronica Cusin, Bernard Grandchamp, Laurent Gouya, Eric Leguern, T. Papo, Cathérine Boileau, Guillaume Jondeau

    Julkaistu 2014
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  6. 6
    MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

    MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections Tekijä Mathieu Barbier, Marie Sylvie Gross, Mélodie Aubart, Nadine Hanna, Ketty Kessler, Dong Guo, Laurent Tosolini, Benoît Ho‐Tin‐Noé, Ellen S. Regalado, Mathilde Varret, Marianne Abifadel, Olivier Milleron, Sylvie Odent, Sophie Dupuis‐Girod, Laurence Faivre, Thomas Édouard, Yves Dulac, Tiffany Busa, Laurent Gouya, Dianna M. Milewicz, Guillaume Jondeau, Cathérine Boileau

    Julkaistu 2014
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  7. 7
    Severe and fatal neonatal infections linked to a new variant of echovirus 11, France, July 2022 to April 2023

    Severe and fatal neonatal infections linked to a new variant of echovirus 11, France, July 2022 to April 2023 Tekijä Mathilde Grapin, Audrey Mirand, Didier Pinquier, A. Basset, Matthieu Bendavid, Maxime Bisseux, Marion Jeannoël, Bérengère Kireche, Manoëlle Kossorotoff, Anne-Sophie L’Honneur, L. Robin, Y. Ville, Sylvain Renolleau, Véronique Lemee, Pierre‐Henri Jarreau, Isabelle Desguerre, Florence Lacaille, Marianne Leruez‐Ville, Clémence Guillaume, Cécile Henquell, Alexandre Lapillonne, Isabelle Schuffenecker, Mélodie Aubart

    Julkaistu 2023
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  8. 8
    International Registry of Patients Carrying <i>TGFBR1</i> or <i>TGFBR2</i> Mutations

    International Registry of Patients Carrying <i>TGFBR1</i> or <i>TGFBR2</i> Mutations Tekijä Guillaume Jondeau, Jacques Ropers, Ellen S. Regalado, Alan C. Braverman, Arturo Evangelista, G Teixedo, Julie De Backer, Laura Muiño Mosquera, Sophie Naudion, Cécile Zordan, Takayuki Morisaki, Hiroto Morisaki, Yskert Von Kodolitsch, Sophie Dupuis‐Girod, Shaine A. Morris, Richmond Jeremy, Sylvie Odent, Leslie C. Adès, Madhura Bakshi, Katherine Holman, Scott A. LeMaire, Olivier Milleron, Maud Langeois, Myrtille Spentchian, Mélodie Aubart, Cathérine Boileau, Reed E. Pyeritz, Dianna M. Milewicz

    Julkaistu 2016
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  9. 9
    Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

    Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency Tekijä Paul Bastard, Jérémy Manry, Jie Chen, Jérémie Rosain, Yoann Seeleuthner, Omar AbuZaitun, Lazaro Lorenzo, Taushif Khan, Mary L. Hasek, Nicholas Hernandez, Benedetta Bigio, Peng Zhang, Romain Lévy, Shai Shrot, Eduardo J. Garcia Reino, Yoon Seung Lee, Soraya Boucherit, Mélodie Aubart, Rik Gijsbers, Vivien Béziat, Zhi Li, Sandra Pellegrini, Flore Rozenberg, Nico Marr, Isabelle Meyts, Bertrand Boisson, Aurélie Cobat, Jacinta Bustamante, Qian Zhang, Emmanuelle Jouangy, Laurent Abel, Raz Somech, Jean‐Laurent Casanova, Shen‐Ying Zhang

    Julkaistu 2020
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  10. 10
    Prior infection by seasonal coronaviruses, as assessed by serology, does not prevent SARS-CoV-2 infection and disease in children, France, April to June 2020

    Prior infection by seasonal coronaviruses, as assessed by serology, does not prevent SARS-CoV-2 infection and disease in children, France, April to June 2020 Tekijä Isabelle Sermet‐Gaudelus, Sarah Temmam, Christèle Huon, Sylvie Behillil, Vincent Gajdos, Thomas Bigot, Thibaut Lurier, Delphine Chrétien, Marija Backović, A Delaunay, Flora Donati, Mélanie Albert, Elsa Foucaud, Bettina Mesplées, Grégoire Benoist, Albert Faye, Marc Duval-Arnould, Célia Cretolle, Marina Charbit, Mélodie Aubart, Johanne Auriau, Mathie Lorrot, Dulanjalee Kariyawasam, L. Fertitta, Gilles Orliaguet, Bénédicte Pigneur, Brigitte Bader‐Meunier, Coralie Briand, Vincent Enouf, Julie Toubiana, Tiffany Guilleminot, Sylvie van der Werf, Marianne Leruez‐Ville, Marc Éloit

    Julkaistu 2021
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  11. 11
    JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

    JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study Tekijä Marie‐Louise Frémond, Marie Hully, Benjamin Fournier, Rémi Barrois, Romain Lévy, Mélodie Aubart, Martin Castelle, Delphine Chabalier, Clarisse Gins, Eugénie Sarda, Buthaina Al Adba, Sophie Couderc, Carla Almeida, Claire‐Marine Bérat, Chloé Durrleman, Caroline Espil, Laëtitia Lambert, C. Méni, Maximilien Périvier, Pascal Pillet, Laura Polivka, Manuel Schiff, Calina Todosi, Florence Uettwiller, Alice Lepelley, Gillian Rice, Luís Seabra, Sylvia Sanquer, Anne Hulin, Claire Pressiat, Lauriane Goldwirt, Vincent Bondet, Darragh Duffy, Despina Moshous, Brigitte Bader‐Meunier, Christine Bodemer, Florence Robin-Renaldo, Nathalie Boddaert, Stéphane Blanche, Isabelle Desguerre, Yanick J. Crow, Bénédicte Neven

    Julkaistu 2023
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  12. 12
    Encephalitis and poor neuronal death–mediated control of herpes simplex virus in human inherited RIPK3 deficiency

    Encephalitis and poor neuronal death–mediated control of herpes simplex virus in human inherited RIPK3 deficiency Tekijä Zhiyong Liu, Eduardo J. Garcia Reino, Oliver Harschnitz, Hongyan Guo, Yi‐Hao Chan, Noopur V. Khobrekar, Mary L. Hasek, Kerry Dobbs, Darawan Rinchai, Marie Materna, Daniela Matuozzo, Danyel Lee, Paul Bastard, Jie Chen, Yoon Seung Lee, Seong K. Kim, Shuxiang Zhao, Param Amin, Lazaro Lorenzo, Yoann Seeleuthner, Rémi Chevalier, Laure Mazzola, Claire Gay, Jean-Louis Stéphan, Baptiste Milisavljevic, Soraya Boucherit, Flore Rozenberg, Rebeca Pérez de Diego, Richard D. Dix, Nico Marr, Vivien Béziat, Aurélie Cobat, Mélodie Aubart, Laurent Abel, Stéphane Chabrier, Gregory A. Smith, Luigi D. Notarangelo, Edward S. Mocarski, Lorenz Studer, Jean‐Laurent Casanova, Shen‐Ying Zhang

    Julkaistu 2023
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  13. 13
    Human TMEFF1 is a restriction factor for herpes simplex virus in the brain

    Human TMEFF1 is a restriction factor for herpes simplex virus in the brain Tekijä Yi‐Hao Chan, Zhiyong Liu, Paul Bastard, Noopur V. Khobrekar, Kennen M. Hutchison, Yasuhiro Yamazaki, Qing Fan, Daniela Matuozzo, Oliver Harschnitz, Nacim Kerrouche, Koji Nakajima, Param Amin, Ahmad Yatim, Darawan Rinchai, Jie Chen, Peng Zhang, Gabriele Ciceri, Jia Chen, Kerry Dobbs, Serkan Belkaya, Danyel Lee, Adrian Gervais, Kürşad Aydın, Ayşe Kartal, Mary L. Hasek, Shuxiang Zhao, Eduardo J. Garcia Reino, Yoon Seung Lee, Yoann Seeleuthner, Matthieu Chaldebas, Rasheed Bailey, C. Vanhulle, Lazaro Lorenzo, Soraya Boucherit, Flore Rozenberg, Nico Marr, Trine H. Mogensen, Mélodie Aubart, Aurélie Cobat, Olivier Dulac, Melike Emiroğlu, Søren R. Paludan, Laurent Abel, Luigi D. Notarangelo, Richard Longnecker, Gregory A. Smith, Lorenz Studer, Jean‐Laurent Casanova, Shen‐Ying Zhang

    Julkaistu 2024
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  14. 14
    Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients

    Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients Tekijä Adrian Gervais, Francesca Rovida, Maria Antonietta Avanzini, Stefania Croce, Astrid Marchal, Shih‐Ching Lin, Alessandro Ferrari, Christian W. Thorball, Orianne Constant, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Micol Angelini, Malena Pérez Lorenzo, Lucy Bizien, Cristian Achille, Francesca Trespidi, Elisa Burdino, Irene Cassaniti, Daniele Lilleri, Chiara Fornara, José Camilla Sammartino, Danilo Cereda, Chiara Marrocu, Antonio Piralla, Chiara Valsecchi, Stéfano Ricagno, Paola Cogo, Olaf Neth, Inés Marín‐Cruz, Monia Pacenti, Alessandro Sinigaglia, Marta Trevisan, Andrea Volpe, Antonio Marzollo, Francesca Conti, Tiziana Lazzarotto, Andrea Pession, Pierluigi Viale, Jacques Fellay, Stefano Ghirardello, Mélodie Aubart, Valeria Ghisetti, Alessandro Aiuti, Emmanuelle Jouanguy, Paul Bastard, Elena Percivalle, Fausto Baldanti, Anne Puel, Margaret R. MacDonald, Charles M. Rice, Giada Rossini, Kristy O. Murray, Yannick Simonin, Anna Nagy, Luisa Barzon, Laurent Abel, Michael S. Diamond, Aurélie Cobat, Shen‐Ying Zhang, Jean‐Laurent Casanova, A. Borghesi

    Julkaistu 2023
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  15. 15
    Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study

    Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study Tekijä Camilla Lindan, Kshitij Mankad, Dipak Ram, Larry K. Kociolek, V. Michelle Silvera, Nathalie Boddaert, Stavros Stivaros, Susan Palasis, Sameen Akhtar, Douglas Alden, Suraj Amonkar, Pascale Aouad, Mélodie Aubart, José Alejandro Bacalla-Valles, Alcino A Barbosa, Romain Basmaci, Laureline Berteloot, Thomas Blauwblomme, Gilles Brun, Olivia Carney, Judith Chareyre, G. Chéron, P. Coimbra, Volodia Dangouloff‐Ros, Felice D’Arco, Robert A. Dineen, Loic De-Pontual, Isabelle Desguerre, Wissam Elfallal, D. Gareth Evans, Suely Fazio Ferraciolli, Nadine Girard, Fabrício Guimarães Gonçalves, Iván Fructuoso González, P. Ellen Grant, D. Grévent, Carolina V. Guimaraes, Jane Hassell, Fabiana Hirata, Ian Kamaly-Asl, Jeffrey T. Jacob, Kandise Jackson, Blaise V. Jones, R.L. Joseph, Ah Young Jung, Amna Kashgari, John‐Paul Kilday, Alyssa Kirsch, Manoëlle Kossorotoff, Anant Krishnan, Shilpa Kulkarni, Marianne Leruez-Vill, Fabrice Lesage, R. Lévy, Yi Li, Carol Cavalcante de Vasconcelos Lima, Lokesh Lingappa, Ulrike Löbel, Roberto Lopez-Alberola, Leandro Tavares Lucato, Daniela Duarte Moreira, Jonathan Murnick, Sarah Nahmani, Shubra Pagariya, Julija Pavaine, Bryan Philbrook, Ana Cláudia Piovesan, Kelsey E. Poisson, Nihaal Reddy, Phil Riley, Andrea Romsauerova, C. Roux, Carlos Rugilo, Gaurav Saigal, Gabriel Lucca de Oliveira Salvador, David Seidenwurm, Isabelle Sermet‐Gaudelus, Jai Sidpra, Sniya Sudhakar, María Sol Toronchik, Gilbert Vézina

    Julkaistu 2020
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  16. 16
    SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

    SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency Tekijä Yi‐Hao Chan, Vanja Lundberg, Jérémie Le Pen, Jiayi Yuan, Danyel Lee, Francesca Pinci, Stefano Volpi, Koji Nakajima, Vincent Bondet, Sanna Åkesson, Noopur V. Khobrekar, Aaron Bodansky, Likun Du, Tina Melander, Alice-Andrée Mariaggi, Yoann Seeleuthner, Tariq Shikh Saleh, Debanjana Chakravarty, Per Marits, Kerry Dobbs, Sofie Vonlanthen, Viktoria Hennings, Karolina Thörn, Darawan Rinchai, Lucy Bizien, Matthieu Chaldebas, Ali Sobh, Tayfun Özçelık, Sevgi Keleş, Suzan A. AlKhater, Carolina Prando, Isabelle Meyts, Paul Bastard, A. Borghesi, Aziz Bousfiha, Oksana Boyarchuk, Petter Brodin, Jacinta Bustamante, Giorgio Casari, Rémi Chevalier, John Christodoulou, Roger Colobrán, Antônio Condino‐Neto, Juan Carlos Aldave Becerra, Lisa M. Arkin, Evangelos Andreakos, Christian W. Thorball, Sara Espinosa, Carlos Flores, Amyrath Geraldo, Rabih Halwani, Nevin Hatipoğlu, Brahim Melaiki, Jacques Fellay, Alenka Gagro, Yuval Itan, Chandima Jeewandara, Filomeen Haerynck, Davood Mansouri, Leslie Naesens, Lisa F. P. Ng, Keisuke Okamoto, Pere Soler‐Palacín, Laurent Rénia, Aurora Pujol Onofre, Igor Resnick, José Luis Franco Restrepo, Jacques G. Rivière, Anna Scherbina, Anna Šedivá, Mikko Seppänen, Helen C. Su, Stuart G. Tangye, Şehime Gülsün Temel, Ahmad Abou Tayoun, Stuart E. Turvey, K. M. Furkan Uddin, Diederik van de Beek, Tom Le Voyer, Donald C. Vinh, Shen‐Ying Zhang, Jean‐Laurent Casanova, Michael R. Wilson, Jérémie Rosain, Emmanuelle Jouanguy, Mélodie Aubart, Laurent Abel, Trine H. Mogensen, Qiang Pan‐Hammarström, Daxing Gao, Darragh Duffy, Aurélie Cobat, Stefan Berg, Luigi D. Notarangelo, Oliver Harschnitz, Charles M. Rice, Lorenz Studer, Jean‐Laurent Casanova, Olov Ekwall, Shen‐Ying Zhang

    Julkaistu 2024
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