檢索結果 - Emilie Filhol

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  1. 1
    Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage

    Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage 由 Marie‐Louise Frémond, Marie Legendre, Michaël Fayon, Annick Clément, Emilie Filhol-Blin, Nicolas Richard, Laura Berdah, Sylvie Roullaud, Gillian Rice, Vincent Bondet, Darragh Duffy, Chiara Siléo, Hubert Ducou Le Pointe, Hugues Begueret, Aurore Coulomb, Bénédicte Neven, Serge Amselem, Yanick J. Crow, Nadia Nathan

    出版 2019
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  2. 2
    <i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis

    <i>DCDC2</i>Mutations Cause Neonatal Sclerosing Cholangitis 由 M Girard, Albane A. Bizet, Alain Lachaux, Emmanuel Gonzalès, Emilie Filhol, Sophie Collardeau‐Frachon, Marc Jeanpierre, C. Henry, Monique Fabrè, Loïc Viremouneix, Louise Galmiche, Dominique Debray, Christine Bôle‐Feysot, Patrick Nitschké, Danièle Pariente, Catherine Guettier, Stanislas Lyonnet, Laurence Heidet, Aurélia Bertholet, Emmanuel Jacquemin, Alexandra Henrion‐Caude, Sophie Saunier

    出版 2016
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  3. 3
    A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS

    A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS 由 Evelyne Huynh Cong, Albane A. Bizet, Olivia Boyer, Stéphanie Woerner, Olivier Gribouval, Emilie Filhol, Christelle Arrondel, Sophie Thomas, Flora Silbermann, Guillaume Canaud, J. Hachicha, Nasr Ben Dhia, Marie‐Noelle Péraldi, Kais Harzallah, Daouia Iftene, Laurent Daniel, Marjolaine Willems, Laure‐Hélène Noël, Christine Bôle‐Feysot, Patrick Nitschké, Marie‐Claire Gubler, Géraldine Mollet, Sophie Saunier, Corinne Antignac

    出版 2014
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  4. 4
    Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

    Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability 由 Marion Failler, Heon Yung Gee, Pauline Krug, Kwangsic Joo, Jan Halbritter, Lilya Belkacem, Emilie Filhol, Jonathan D. Porath, Daniela A. Braun, Markus Schueler, Amandine Frigo, Olivier Alibeu, Cécile Masson, Karine Brochard, Bruno Hurault de Ligny, Robert Novo, Christine Piétrement, Hülya Kayserili, Rémi Salomon, Marie‐Claire Gubler, Edgar A. Otto, Corinne Antignac, Joon Kim, Alexandre Benmerah, Friedhelm Hildebrandt, Sophie Saunier

    出版 2014
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  5. 5
    Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

    Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation 由 Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau‐Frachon, Isabelle Rouvet, Jean‐Luc Alessandri, Louise Devisme, Anne Dieux‐Coëslier, Marie‐Pierre Cordier, Yline Capri, Suonavy Khung‐Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie‐Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié‐Bitach, Marc Jeanpierre, Sophie Saunier

    出版 2016
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  6. 6
    A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

    A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium 由 Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre, Alessia Micalizzi, Marta Romani, Avinash Abhyankar, Julien Saada, Isabelle Perrault, Jeanne Amiel, Julie Litzler, Emilie Filhol, Nadia Elkhartoufi, Mandy Kwong, Jean‐Laurent Casanova, Nathalie Boddaert, Wolfgang Baehr, Stanislas Lyonnet, Arnold Münnich, Lydie Bürglen, Nicolas Chassaing, Ferechté Encha-Ravazi, Michel Vekemans, Joseph G. Gleeson, Enza Maria Valente, Peter K. Jackson, Iain A. Drummond, Sophie Saunier, Tania Attié‐Bitach

    出版 2013
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  7. 7
    Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

    Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 由 Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine Leh, Marit Midtbø, Emilie Filhol, Christine Bôle‐Feysot, Patrick Nitschké, Christian Gilissen, Olav H. Haugen, Jan‐Stephan Sanders, Irene Stolte‐Dijkstra, Dorus A. Mans, Eric J. Steenbergen, Ben C.J. Hamel, Marie Matignon, Rolph Pfundt, Marc Jeanpierre, Helge Boman, Eyvind Rødahl, Joris A. Veltman, Per M. Knappskog, Nine Knoers, Ronald Roepman, Heleen H. Arts

    出版 2011
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  8. 8
    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations 由 Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet, Felicity Collins, Mustafa A. Salih, S. Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silva, Véronique Baudouin, Machteld M. Oud, Nora Shannon, Martine Le Merrer, Olivier Roche, Christine Piétrement, Jamal Goumid, Clarisse Baumann, Christine Bôle‐Feysot, Patrick Nitschké, Mohammed Zahrate, Philip L. Beales, Heleen H. Arts, Arnold Münnich, Josseline Kaplan, Corinne Antignac, Valérie Cormier‐Daire, Jean‐Michel Rozet

    出版 2012
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  9. 9
    Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

    Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization 由 Albane A. Bizet, Anita Becker-Heck, Rebecca Ryan, Kristina Weber, Emilie Filhol, Pauline Krug, Jan Halbritter, Marion Delous, Marie-Christine Lasbennes, Bolan Linghu, Edward J. Oakeley, Mohammed Zarhrate, Patrick Nitschké, Meriem Garfa-Traoré, Fabrizio C. Serluca, Fan Yang, Tewis Bouwmeester, Lucile Pinson, Élisabeth Cassuto, Philippe Dubot, Neveen A. Soliman, José‐Alain Sahel, Rémi Salomon, Iain A. Drummond, Marie‐Claire Gubler, Corinne Antignac, Salah‐Dine Chibout, Joseph D. Szustakowski, Friedhelm Hildebrandt, Esben Lorentzen, Andreas W. Sailer, Alexandre Benmerah, Pierre Saint-Mézard, Sophie Saunier

    出版 2015
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  10. 10
    Functional assessment and phenotypic heterogeneity of <i>SFTPA1</i> and <i>SFTPA2</i> mutations in interstitial lung diseases and lung cancer

    Functional assessment and phenotypic heterogeneity of <i>SFTPA1</i> and <i>SFTPA2</i> mutations in interstitial lung diseases and lung cancer 由 Marie Legendre, Afifaa Butt, Raphaël Borie, Marie‐Pierre Debray, Diane Bouvry, Emilie Filhol-Blin, Tifenn Desroziers, Valérie Nau, Bruno Copin, Florence Dastot‐Le Moal, Mélanie Héry, Philippe Duquesnoy, Nathalie Allou, Anne Bergeron, Julien Bermudez, Aurélie Cazes, Anne‐Laure Chéné, Vincent Cottin, Bruno Crestani, Jean‐Charles Dalphin, Christine Dombret, Bérénice Doray, Clairelyne Dupin, Violaine Giraud, Anne Gondouin, Laurent Gouya, Dominique Israëł-Biet, Caroline Kannengiesser, A. Le Borgne, Sylvie Leroy, Élisabeth Longchampt, Gwenaël Lorillon, Hilario Nunès, C. Picard, Martine Reynaud‐Gaubert, Julie Traclet, Paul De Vuyst, Aurore Coulomb‐L'Herminé, Annick Clément, Serge Amselem, Nadia Nathan

    出版 2020
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  11. 11
    ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

    ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 由 Sylvia Hoff, Jan Halbritter, Daniel Epting, Valeska Frank, Thanh-Minh T. Nguyen, Jeroen van Reeuwijk, Christopher Boehlke, Christoph Schell, Takayuki Yasunaga, Martin Helmstädter, Miriam Mergen, Emilie Filhol, Karsten Boldt, Nicola Horn, Marius Ueffing, Edgar A. Otto, Tobias Eisenberger, Mariet W. Elting, J. A. E. van Wijk, Detlef Böckenhauer, Neil J. Sebire, Søren Rittig, Mogens Vyberg, Troels Ring, Martin Pöhl, Lars Pape, Thomas J. Neuhaus, Neveen A. Soliman, Sarah Koon, Peter C. Harris, Florian Grahammer, Tobias B. Huber, E. Wolfgang Kuehn, Albrecht Kramer-Zucker, Hanno J. Bolz, Ronald Roepman, Sophie Saunier, Gerd Walz, Friedhelm Hildebrandt, Carsten Bergmann, Soeren S. Lienkamp

    出版 2013
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  12. 12
    Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

    Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans 由 Jan Halbritter, Albane A. Bizet, Miriam Schmidts, Jonathan D. Porath, Daniela A. Braun, Heon Yung Gee, Aideen M. McInerney‐Leo, Pauline Krug, Emilie Filhol, Erica E. Davis, Rannar Airik, Peter G. Czarnecki, Anna Lehman, Peter Trnka, Patrick Nitschké, Christine Bôle‐Feysot, Markus Schueler, Bertrand Knebelmann, Stéphane Burtey, Attila J. Szabó, Kálmán Tory, Paul Leo, Brooke Gardiner, Fiona A. McKenzie, Andreas Zankl, Matthew A. Brown, Jane Hartley, Eamonn R. Maher, Chunmei Li, Michel R. Leroux, Peter Scambler, Shing H. Zhan, Steven J.M. Jones, Hülya Kayserili, Beyhan Tüysüz, Khemchand N Moorani, Alexandru R. Constantinescu, Ian D. Krantz, Bernard S. Kaplan, Jagesh V. Shah, Toby W. Hurd, Dan Doherty, Nicholas Katsanis, Emma L. Duncan, Edgar A. Otto, Philip L. Beales, Hannah M. Mitchison, Sophie Saunier, Friedhelm Hildebrandt

    出版 2013
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  13. 13
    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies 由 Friederike Petzold, Katy Billot, Xiaoyi Chen, C. Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Marc Jeanpierre, Kálmán Tory, Olivia Boyer, Anita Burgun, Aude Servais, Rémi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié‐Bitach, Valerie Comier-Daire, Jean‐Michel Rozet, Yaacov Frishberg, Brigitte Llanas, M. Broyer, Nabil Mohsin, Marie‐Alice Macher, Nicole Philip, Véronique Baudouin, D. Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, C. Guyot, Pierre Bataille, Mariet Elting, Georges Deschênes, Andrea Gropman, Geneviève Guest, Marie‐France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, A Bensman, Anne‐Marie Guerrot, Bertrand Knebelmann, İlmay Bilge, Bruno Daniele, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Éric Bieth, Sophie Gié, Judith Goodship, G. Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane L. Benoit, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, M. Kessler, Thérèsa Kwon, A. Lahoche, Audrey Laurent, Anne-Laure Leclerc, David V. Milford, Thomas J. Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio A. Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadıkoğlu, Christine Barnérias, Anne Barthélémy, Lina Basel, Nader Bassilios

    出版 2023
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