نتائج البحث - Loïc de Pontual

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  1. 1
    Clostridium difficile Carriage in Healthy Infants in the Community: A Potential Reservoir for Pathogenic Strains

    Clostridium difficile Carriage in Healthy Infants in the Community: A Potential Reservoir for Pathogenic Strains حسب Clotilde Rousseau, I. Poîlane, Loïc de Pontual, A.-C. Maherault, Alban Le Monnier, Anne Collignon

    منشور في 2012
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    Artigo
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  2. 2
    Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

    Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Auto... حسب Jeanne Amiel, Marlène Rio, Loïc de Pontual, Richard Redon, Valérie Malan, Nathalie Boddaert, Perrine Plouin, Nigel P. Carter, Stanislas Lyonnet, Arnold Münnich, Laurence Colleaux

    منشور في 2007
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  3. 3
    Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies

    Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies حسب Carine El Sissy, Jérémie Rosain, Paula Vieira‐Martins, Pauline Bordereau, Aurélia Gruber, Magali Devriese, Loïc de Pontual, Muhamed‐Kheir Taha, Claire Fieschi, Capucine Pïcard, Véronique Frémeaux‐Bacchi

    منشور في 2019
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    Artigo
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  4. 4
    Effectiveness of Chest Physiotherapy in Infants Hospitalized with Acute Bronchiolitis: A Multicenter, Randomized, Controlled Trial

    Effectiveness of Chest Physiotherapy in Infants Hospitalized with Acute Bronchiolitis: A Multicenter, Randomized, Controlled Trial حسب Vincent Gajdos, Sandrine Katsahian, Nicole Beydon, Véronique Abadie, Loïc de Pontual, Sophie Larrar, Ralph Epaud, Bertrand Chevallier, Sylvain Bailleux, A. Mollet-Boudjemline, Jean Bouyer, Sylvie Chevret, Philippe Labrune

    منشور في 2010
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  5. 5
    Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma

    Germline Mutations of the Paired–Like Homeobox 2B (PHOX2B) Gene in Neuroblastoma حسب Delphine Trochet, Franck Bourdeaut, Isabelle Janoueix‐Lerosey, Anne Deville, Loïc de Pontual, Gudrun Schleiermacher, Carole Coze, Nicole Philip, Thierry Frébourg, Arnold Münnich, Stanislas Lyonnet, Olivier Delattre, Jeanne Amiel

    منشور في 2004
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  6. 6
    Impact of Implementing National Guidelines on Antibiotic Prescriptions for Acute Respiratory Tract Infections in Pediatric Emergency Departments: An Interrupted Time Series Analysis

    Impact of Implementing National Guidelines on Antibiotic Prescriptions for Acute Respiratory Tract Infections in Pediatric Emergency Departments: An Interrupted Time Series Analysi... حسب Naïm Ouldali, X. Bellettre, Karen Milcent, Romain Guedj, Loïc de Pontual, B. Cojocaru, Valérie Soussan-Banini, Irina Craiu, David Skurnik, Vincent Gajdos, G. Chéron, Robert Cohen, Corinne Alberti, François Angoulvant

    منشور في 2017
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  7. 7
    Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

    Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome حسب Jeanne Amiel, Béatrice Laudier, Tania Attié‐Bitach, Ha Trang, Loïc de Pontual, Blanca Gener, Delphine Trochet, Heather Etchevers, Pierre F. Ray, Michel Simonneau, Michel Vekemans, Arnold Münnich, Claude Gaultier, Stanislas Lyonnet

    منشور في 2003
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    Artigo
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  8. 8
    A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

    A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant حسب Alexandre Bolze, Avinash Abhyankar, Audrey V. Grant, Bhavi Patel, Ruchi Yadav, Minji Byun, Daniel Caillez, Jean‐François Emile, Marçal Pastor‐Anglada, Laurent Abel, Anne Puel, Rajgopal Govindarajan, Loïc de Pontual, Jean‐Laurent Casanova

    منشور في 2012
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  9. 9
    Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies

    Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies حسب Jérémie Rosain, Eva Hong, Claire Fieschi, Paula Vieira Martins, Carine El Sissy, Ala‐Eddine Deghmane, Marie Ouachée, Caroline Thomas, David Launay, Loïc de Pontual, Felipe Suárez, Despina Moshous, Capucine Pïcard, Muhamed‐Kheir Taha, Véronique Frémeaux‐Bacchi

    منشور في 2017
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  10. 10
    Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

    Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans حسب Loïc de Pontual, Evelyn Yao, Patrick Callier, Laurence Faivre, Valérie Drouin, Sandra Cariou, Arie van Haeringen, David Geneviève, Alice Goldenberg, Myriam Oufadem, Sylvie Manouvrier, Arnold Münnich, Joana A. Vidigal, Michel Vekemans, Stanislas Lyonnet, Alexandra Henrion‐Caude, Andrea Ventura, Jeanne Amiel

    منشور في 2011
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  11. 11
    Use of Procalcitonin Assays to Predict Serious Bacterial Infection in Young Febrile Infants

    Use of Procalcitonin Assays to Predict Serious Bacterial Infection in Young Febrile Infants حسب Karen Milcent, S. Faesch, Christèle Gras‐Le Guen, François Dubos, Claire Poulalhon, I. Badier, Elisabeth Marc, Christine Laguille, Loïc de Pontual, Alexis Mosca, Gisèle Nissack, Sandra Biscardi, H. Le Hors, Férielle Louillet, Andreea Madalina Dumitrescu, Philippe Babe, Christelle Vauloup‐Fellous, Jean Bouyer, Vincent Gajdos

    منشور في 2015
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  12. 12
    Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

    Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome حسب Loïc de Pontual, Delphine Trochet, Sophie Caillat‐Zucman, Othman A Abou Shenab, Pierre Bougnères, Yanick J. Crow, Steve Cunningham, Blandine Esteva, Lada Cindro Heberle, Juliane Léger, Graziella Pinto, Michel Polak, Magdy H. Shafik, Christian Straus, Ha Trang, Arnold Münnich, Stanislas Lyonnet, Isabelle Desguerre, Jeanne Amiel

    منشور في 2008
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  13. 13
    Systemic Inflammatory Diseases in Children with Sickle Cell Disease: A French Multicenter Observational Study on Diagnostic and Therapeutic Issues

    Systemic Inflammatory Diseases in Children with Sickle Cell Disease: A French Multicenter Observational Study on Diagnostic and Therapeutic Issues حسب Caroline Vinit, Corinne Guitton, Mariane De Montalembert, Patricia Benhaim, Lahoueri Amor‐Chelihi, Brigitte Bader‐Meunier, Florence Missud, Isabelle Melki, Vincent Gajdos, Cécile Arnaud, Annie Kamden, Oussama Charara, Véronique Hentgen, Sylvie Nathanson, Coralie Bloch‐Queyrat, Ulrich Meinzer, Pierre Quartier, Isabelle Koné-Paut, Loïc de Pontual, Luu‐Ly Pham

    منشور في 2025
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  14. 14
    Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

    Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry حسب Claire Desplantes, Marie Louise Fremond, Blandine Beaupain, Jean Luc Harousseau, Agnès Buzyn, Isabelle Pellier, G. Roques, P Morville, Catherine Paillard, Julie Bruneau, Lucile Pinson, Éric Jeziorski, Jean Pierre Vannier, Capucine Pïcard, Florence Bellanger, Norma B. Romero, Loïc de Pontual, Hélène Lapillonne, Patrick Lutz, Christine bellanne Chantelot, Jean Donadieu

    منشور في 2014
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  15. 15
    Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome

    Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome حسب Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan, Nathalie Boddaert, Christine Soufflet, Capucine Pïcard, Anne Durandy, Angus Dobbie, Delphine Héron, Bertrand Isidor, Jacques Motté, Ruth Newburry-Ecob, Laurent Pasquier, Marc Tardieu, G��raldine Viot, Francis Jaubert, Arnold Münnich, Laurence Colleaux, Michel Vekemans, Heather Etchevers, Stanislas Lyonnet, Jeanne Amiel

    منشور في 2009
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  16. 16
    Hirschsprung disease, associated syndromes and genetics: a review

    Hirschsprung disease, associated syndromes and genetics: a review حسب Jeanne Amiel, Eileen Sproat-Emison, M.‐M. Garcia‐Barceló, Francesca Lantieri, Grzegorz Burzynski, Salud Borrego, Anna Pelet, Stacey Arnold, Xiaoping Miao, Paola Griseri, A S Brooks, Guillermo Antiñolo, Loïc de Pontual, Mathieu Clément‐Ziza, Arnold Münnich, Carl Kashuk, Kristen M. West, Kenneth KY Wong, Stanislas Lyonnet, Aravinda Chakravarti, Paul KH Tam, Isabella Ceccherini, Robert M.W. Hofstra, Raquel M. Fernández

    منشور في 2007
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    Revisão
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  17. 17
    Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

    Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability حسب E Emison, Mercè Garcia-Barceló, Elizabeth A. Grice, Francesca Lantieri, Jeanne Amiel, Grzegorz Burzynski, Raquel M. Fernández, Hao Li, Carl Kashuk, Kristen M. West, Xiaoping Miao, Paul Tam, Paola Griseri, Isabella Ceccherini, Anna Pelet, Anne‐Sophie Jannot, Loïc de Pontual, Alexandra Henrion‐Caude, Stanislas Lyonnet, Joanne Verheij, Robert M.W. Hofstra, Guillermo Antiñolo, Salud Borrego, Andrew S. McCallion, Aravinda Chakravarti

    منشور في 2010
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  18. 18
    Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

    Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy حسب Anne Guimier, Christopher T. Gordon, François Godard, Gianina Ravenscroft, Myriam Oufadem, Christelle Vasnier, Caroline Rambaud, Patrick Nitschké, Christine Bôle‐Feysot, Cécile Masson, Stéphane Dauger, Cheryl Longman, Nigel G. Laing, B. Kugener, Damien Bonnet, Patrice Bouvagnet, Sylvie Di Filippo, Vincent Probst, Richard Redon, Philippe Charron, Agnès Rötig, Stanislas Lyonnet, Alain Dautant, Loïc de Pontual, Jean-Paul di Rago, Agnés Delahodde, Jeanne Amiel

    منشور في 2016
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  19. 19
    SARS-CoV-2 transmission among children and staff in daycare centres during a nationwide lockdown in France: a cross-sectional, multicentre, seroprevalence study

    SARS-CoV-2 transmission among children and staff in daycare centres during a nationwide lockdown in France: a cross-sectional, multicentre, seroprevalence study حسب Eric Lachassinne, Loïc de Pontual, Marion Caséris, Mathie Lorrot, Carole Guilluy, Aurélie Naud, Marie‐Aliette Dommergues, Didier Pinquier, Evelyne Wannepain, Elisabeth Hausherr, Camille Jung, Vincent Gajdos, Robert Cohen, Jean‐Ralph Zahar, Ségolène Brichler, Romain Basmaci, Pierre‐Yves Boëlle, Coralie Bloch‐Queyrat, Camille Aupiais, Lorelei Charbonnier, Anaïs Chosidow, Véronique Hentgen, Oscar Lescano, Nathalie Mestre, Gaëlle Pinto Cardoso, Roselyne Masson, Bahia Rabehi, Anne‐Sophie Romain, F. Vié Le Sage, Xavier Vuillaume

    منشور في 2021
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  20. 20
    Invasive Pneumococcal Disease in Children Can Reveal a Primary Immunodeficiency

    Invasive Pneumococcal Disease in Children Can Reveal a Primary Immunodeficiency حسب Jean Gaschignard, Corinne Lévy, Maya Chrabieh, Bertrand Boisson, C. Bost-Bru, Stéphane Dauger, François Dubos, Philippe Durand, J. Gaudelus, D Gendrel, Christèle Gras‐Le Guen, E. Grimprel, G. Guyon, C. Jeudy, Éric Jeziorski, Francis Leclerc, Pierre-Louis Léger, Fabrice Lesage, Mathie Lorrot, Isabelle Pellier, Didier Pinquier, Loïc de Pontual, P. Sachs, Caroline Thomas, Pierre Tissières, Frédéric V. Valla, P Desprez, Véronique Frémeaux‐Bacchi, Emmanuelle Varon, Xavier Bossuyt, Robert Cohen, Laurent Abel, Jean‐Laurent Casanova, Anne Puel, Capucine Pïcard

    منشور في 2014
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