检索结果 - Fabienne Jabot‐Hanin
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<scp>TUBB</scp> 1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology 由 Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bôle‐Feysot, Patrick Nitschké, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Torès, Anita Michel, Arnold Münnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré
出版 2018Artigo -
2
Agonists of prostaglandin E <sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathies 由 Hugo García, Alice Serafin, Flora Silbermann, Esther Porée, Amandine Viau, Clémentine Mahaut, Katy Billot, Éléonore Birgy, Meriem Garfa-Traoré, Stéphanie Roy, Salomé Ceccarelli, Manon Mehraz, Pamela C. Rodriguez, Bérangère Deleglise, Laetitia Furio, Fabienne Jabot‐Hanin, Nicolas Cagnard, Elaine Del Nery, Marc Fila, Soraya Sin-Monnot, Corinne Antignac, Stanislas Lyonnet, Pauline Krug, Rémi Salomon, Jean‐Philippe Annereau, Alexandre Benmerah, Marion Delous, Luis Briseño-Roa, Sophie Saunier
出版 2022Artigo -
3
The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses 由 Sarah Jill de Jong, Amandine Créquer, Irina Matos, David Hum, Vignesh Gunasekharan, Lazaro Lorenzo, Fabienne Jabot‐Hanin, E. Imahorn, Andrés A. Arias, Hassan Vahidnezhad, Leila Youssefian, Janet Markle, Étienne Patin, Aurelia D’amico, Claire Q. Wang, Florian Full, Armin Ensser, Thomas Leisner, Leslie V. Parise, Matthieu Bouaziz, Nataly Portilla Maya, Xavier Rueda Cadena, Bayaki Saka, Amir Hossein Saeidian, Nessa Aghazadeh, Sirous Zeinali, Peter Itin, James G. Krueger, Lou Laimins, Laurent Abel, Elaine Fuchs, Jouni Uitto, José Luis Franco, Bettina Burger, Gérard Orth, Emmanuelle Jouanguy, Jean‐Laurent Casanova
出版 2018Artigo -
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A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency 由 Jérémie Rosain, Carmen Oleaga‐Quintas, Caroline Deswarte, Hannah Verdin, Stéphane Marot, Garyfallia Syridou, Mahboubeh Mansouri, Seyed Alireza Mahdaviani, Edna Venegas‐Montoya, Μαρία Τσολιά, Mehrnaz Mesdaghi, Л.И. Чернышова, Yuriy Stepanovskiy, Nima Parvaneh, Davood Mansouri, Sigifredo Pedraza‐Sánchez, Анастасія Бондаренко, Sara Elva Espinosa‐Padilla, Marco Antonio Yamazaki‐Nakashimada, Alejandro Nieto-Patlán, Gaspard Kerner, Nathalie Lambert, Corinne Jacques, Emilie Corvilain, Mélanie Migaud, Virginie Grandin, María Teresa Herrera, Fabienne Jabot‐Hanin, Stéphanie Boisson‐Dupuis, Capucine Pïcard, Patrick Nitschké, Anne Puel, Frédéric Torès, Laurent Abel, Lizbeth Blancas‐Galicia, Elfride De Baere, Christine Bôle‐Feysot, Jean‐Laurent Casanova, Jacinta Bustamante
出版 2018Revisão -
5
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency 由 Xiao‐Fei Kong, Rubén Martínez‐Barricarte, James Kennedy, Federico Mele, Tomi Lazarov, Elissa K. Deenick, S. Cindy, Gaëlle Breton, Kimberly Lucero, David Langlais, Aziz Bousfiha, Caner Aytekin, Janet Markle, Céline Trouillet, Fabienne Jabot‐Hanin, Cecilia S. Lindestam Arlehamn, Geetha Rao, Capucine Pïcard, Théo Lasseau, Daniela Latorre, Sophie Hambleton, Caroline Deswarte, Yuval Itan, Katia Abarca, Dewton de Moraes Vasconcelos, Fatima Ailal, Aydan İkincioğulları, Figen Doğu, Ibtihal Benhsaien, Alessandro Sette, Laurent Abel, Stéphanie Boisson‐Dupuis, Bernd Schröder, Michel C. Nussenzweig, Kang Liu, Frédéric Geissmann, Stuart G. Tangye, Philippe Gros, Federica Sallusto, Jacinta Bustamante, Jean‐Laurent Casanova
出版 2018Artigo -
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Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function 由 Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé, Marie-Josèphe Tête, Alexandra Cambier, Julien Hogan, Véronique Baudouin, Saoussen Krid, A Bensman, Florie Lammens, Férielle Louillet, Bruno Ranchin, Cécile Vigneau, I. Bouteau, Corinne Isnard Bagnis, Christoph J. Mache, Tobias Schäfer, Lars Pape, Markus Gödel, Tobias B. Huber, Marcus R. Benz, Günter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Morinière, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bôle‐Feysot, Fabienne Jabot‐Hanin, Patrick Nitschké, Tarunveer S. Ahluwalia, Anna Köttgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons
出版 2019Artigo -
7
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency 由 Julien Cottineau, Molly C. Kottemann, Francis P. Lach, Young‐Hoon Kang, Frédéric Vely, Elissa K. Deenick, Tomi Lazarov, Laure Gineau, Yi Wang, Andrea Farina, Marie Chansel, Lazaro Lorenzo, Christelle Pipéroglou, S. Cindy, Patrick Nitschké, Aziz Belkadi, Yuval Itan, Bertrand Boisson, Fabienne Jabot‐Hanin, Capucine Pïcard, Jacinta Bustamante, Céline Eidenschenk, Soraya Boucherit, Nathalie Aladjidi, Didier Lacombe, Pascal Barat, Waseem Qasim, Jane A. Hurst, Andrew J. Pollard, Holm H. Uhlig, Claire Fieschi, Jean Michon, Vladimir P. Bermudez, Laurent Abel, Jean‐Pierre de Villartay, Frédéric Geissmann, Stuart G. Tangye, Jerard Hurwitz, Éric Vivier, Jean‐Laurent Casanova, Agata Smogorzewska, Emmanuelle Jouanguy
出版 2017Artigo -
8
Impairment of immunity to <i>Candida</i> and <i>Mycobacterium</i> in humans with bi-allelic <i>RORC</i> mutations 由 Satoshi Okada, Janet Markle, Elissa K. Deenick, Federico Mele, Diana Averbuch, Macarena Lagos, Mohammed Alzahrani, Saleh Al‐Muhsen, Rabih Halwani, S. Cindy, Natalie Wong, Claire Soudais, Lauren A. Henderson, Hiyam Marzouqa, Jamal Shamma, Marcela González, Rubén Martínez‐Barricarte, Chizuru Okada, Danielle T. Avery, Daniela Latorre, Caroline Deswarte, Fabienne Jabot‐Hanin, Egídio Torrado, Jeffrey J. Fountain, Aziz Belkadi, Yuval Itan, Bertrand Boisson, Mélanie Migaud, Cecilia S. Lindestam Arlehamn, Alessandro Sette, Sylvain Breton, James McCluskey, Jamie Rossjohn, Jean‐Pierre de Villartay, Despina Moshous, Sophie Hambleton, Sylvain Latour, Peter D. Arkwright, Capucine Pïcard, Olivier Lantz, Dan Engelhard, Masao Kobayashi, Laurent Abel, Andrea M. Cooper, Luigi D. Notarangelo, Stéphanie Boisson‐Dupuis, Anne Puel, Federica Sallusto, Jacinta Bustamante, Stuart G. Tangye, Jean‐Laurent Casanova
出版 2015Artigo -
9
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23 由 Rubén Martínez‐Barricarte, Janet Markle, S. Cindy, Elissa K. Deenick, Noé Ramírez-Alejo, Federico Mele, Daniela Latorre, Seyed Alireza Mahdaviani, Caner Aytekin, Davood Mansouri, Vanessa L. Bryant, Fabienne Jabot‐Hanin, Caroline Deswarte, Alejandro Nieto-Patlán, Laura Surace, Gaspard Kerner, Yuval Itan, Sandra Jovic, Danielle T. Avery, Natalie Wong, Geetha Rao, Étienne Patin, Satoshi Okada, Benedetta Bigio, Bertrand Boisson, Franck Rapaport, Yoann Seeleuthner, Monika Schmidt, Aydan İkincioğulları, Figen Doğu, Gönül Tanır, Payam Tabarsi, Mohammed Reza Bloursaz, Julia K. Joseph, Avneet Heer, Xiao‐Fei Kong, Mélanie Migaud, Tomi Lazarov, Frédéric Geissmann, Bernhard Fleckenstein, Cecilia S. Lindestam Arlehamn, Alessandro Sette, Anne Puel, Jean‐François Emile, Esther van de Vosse, Lluís Quintana‐Murci, James P. Di Santo, Laurent Abel, Stéphanie Boisson‐Dupuis, Jacinta Bustamante, Stuart G. Tangye, Federica Sallusto, Jean‐Laurent Casanova
出版 2018Artigo -
10
Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common <i>TYK2</i> missense variant 由 Stéphanie Boisson‐Dupuis, Noé Ramírez-Alejo, Zhi Li, Étienne Patin, Geetha Rao, Gaspard Kerner, Che Kang Lim, Dimitry N. Krementsov, Nicholas Hernandez, S. Cindy, Qian Zhang, Janet Markle, Rubén Martínez‐Barricarte, Kathryn Payne, Robert O. Fisch, Caroline Deswarte, Joshua Halpern, Matthieu Bouaziz, Jeanette Mulwa, Durga Sivanesan, Tomi Lazarov, Rodrigo Naves, Patricia García, Yuval Itan, Bertrand Boisson, Alix Checchi, Fabienne Jabot‐Hanin, Aurélie Cobat, Andrea Guennoun, Carolyn C. Jackson, Sevgi Pekcan, Zafer Çalışkaner, Jaime Inostroza, Beatriz Tavares Costa‐Carvalho, José Antônio Tavares de Albuquerque, Humberto Garcia‐Ortíz, Lorena Orozco, Tayfun Özçelık, A. Abid, Ismail Abderahmani Rhorfi, Hicham Souhi, Hicham Naji Amrani, Adil Zegmout, Frédéric Geissmann, Stephen W. Michnick, Ingrid Müller‐Fleckenstein, Bernhard Fleckenstein, Anne Puel, Michael J. Ciancanelli, Nico Marr, Hassan Abolhassani, María Elvira Balcells, Antônio Condino‐Neto, Alexis Strickler, Katia Abarca, Cory Teuscher, Hans D. Ochs, İsmail Reisli, Esra Hazar Sayar, Jamila El Baghdadi, Jacinta Bustamante, Lennart Hammarström, Stuart G. Tangye, Sandra Pellegrini, Lluís Quintana‐Murci, Laurent Abel, Jean‐Laurent Casanova
出版 2018Artigo
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Biology
Genetics
Immunology
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Gene
Immune system
Endocrinology
Immunity
Internal medicine
Pathology
Cell biology
In vitro
Phenotype
Receptor
Tuberculosis
Virology
Alu element
Antigen
Bone marrow
Cancer research
Chemistry
Chemotherapy
Chronic mucocutaneous candidiasis
Ciliogenesis
Ciliopathies
Ciliopathy
Cilium
Congenital Neutropenia
Congenital hypothyroidism
Copy-number variation