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Akademický článek
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Autor:
Yannis Duffourd, Catherine Sarret, B. Catteau, Rachel G. Knox, Chloé Quélin, Cyril Mignot, Martin Chevarin, P. Callier, Diana Rodriguez, Alexis Arzimanoglou, Robert Olaso, David Geneviève, Arthur Sorlin, Sylvie Odent, Christel Thauvin, Victoria E. R. Parker, Pierre Vabres, Louise Goujon, Malika Keddar, Melissa Riachi, Sylvie Fraitag, Laurence Faivre, Emmanuelle Blanchard, Satyamaanasa Polubothu, Marie-Line Jacquemont, Jean-Baptiste Rivière, Anne Boland, Jean-François Deleuze, Paul Rollier, Véronique Darmency, Marie-Hélène Aubriot-Lorton, Yline Capri, V. Carmignac, Daniel Amram, Catherine Vincent-Delorme, Paul Kuentz, Marc Delepine, Didier Bessis, Robert K. Semple, Sarah Grotto, Veronica A. Kinsler, Laurent Guibaud, Christophe Philippe, Jean-Benoît Courcet
Publikováno v:
Carmignac, V, Mignot, C, Blanchard, E, Kuentz, P, Aubriot-Lorton, M-H, Parker, V E R, Sorlin, A, Fraitag, S, Courcet, J-B, Duffourd, Y, Rodriguez, D, Knox, R G, Polubothu, S, Boland, A, Olaso, R, Delepine, M, Darmency, V, Riachi, M, Quelin, C, Rollier, P, Goujon, L, Grotto, S, Capri, Y, Jacquemont, M-L, Odent, S, Amram, D, Chevarin, M, Vincent-Delorme, C, Catteau, B, Guibaud, L, Arzimanoglou, A, Keddar, M, Sarret, C, Callier, P, Bessis, D, Geneviève, D, Deleuze, J-F, Thauvin, C, Semple, R K, Philippe, C, Rivière, J-B, Kinsler, V A, Faivre, L & Vabres, P 2021, ' Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01161-6
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e9636f25224977f95394e626ab0731
https://www.repository.cam.ac.uk/handle/1810/326616
https://www.repository.cam.ac.uk/handle/1810/326616
Autor:
Claire Bernier, Juliette Mazereeuw-Hautier, Benoit Ben Said, Eve Bedouelle, F. Dezoteux, Florence Tetart, B. Catteau, Delphine Staumont-Sallé, Eve Puzenat, B. Sterling, Christine Chiaverini, A. Welfringer-Morin, Stéphanie Mallet, Claire Abasq, Evelyne Collet, J. Delaunay, Margot Raynal, Annabel Maruani, Brigitte Milpied
Publikováno v:
Journal of Allergy and Clinical Immunology: In Practice
Journal of Allergy and Clinical Immunology: In Practice, 2021, ⟨10.1016/j.jaip.2021.07.025⟩
Journal of Allergy and Clinical Immunology: In Practice, Elsevier, 2021, ⟨10.1016/j.jaip.2021.07.025⟩
Journal of Allergy and Clinical Immunology: In Practice, 2021, ⟨10.1016/j.jaip.2021.07.025⟩
Journal of Allergy and Clinical Immunology: In Practice, Elsevier, 2021, ⟨10.1016/j.jaip.2021.07.025⟩
Background Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare and potentially fatal adverse reaction. It can be difficult to diagnose, even more so among children, because symptoms may mimic other commonly encountered pediatric c
Autor:
Stephane Kandemir, B. Catteau, Stéphane Leteurtre, F. Dezoteux, Delphine Staumont-Sallé, S. Buche
Publikováno v:
Annales de Dermatologie et de Vénéréologie - FMC. 1:A210
Introduction Les syndromes de necrolyse epidermiques regroupent diverses entites dont la semiologie en phase aigue representent un defi pour le clinicien entre l’erytheme polymorphe majeur (EPM), le syndrome de Stevens-Johnson/Lyell (SSJL), et l’
Autor:
Catherine Sarret, Satyamaanasa Polubothu, V. Carmignac, Daniel Amram, Anne Boland, Chloé Quélin, Véronique Darmency, Christophe Philippe, Emmanuelle Blanchard, Martin Chevarin, P. Callier, Veronica A. Kinsler, Yannis Duffourd, Robert Olaso, Jean-Baptiste Rivière, Marie-Hélène Aubriot-Lorton, Sylvie Fraitag, Christel Thauvin, Malika Keddar, B. Catteau, Alexis Arzimanoglou, Cyril Mignot, Rachel G. Knox, Didier Bessis, Sarah Grotto, Robert K. Semple, Marie-Line Jacquemont, Arthur Sorlin, Sylvie Odent, David Geneviève, Laurent Guibaud, Melissa Riachi, Yline Capri, Pierre Vabres, Victoria E. R. Parker, Louise Goujon, Jean-Benoît Courcet, Laurence Faivre, Jean-François Deleuze, Paul Rollier, Marc Delepine, Catherine Vincent-Delorme, Paul Kuentz, Diana Rodriguez
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩
Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩
International audience
Autor:
Joël Ferri, B Catteau, Matthias Schlund, Sandrine Touzet-Roumazeille, Roman Hossein Khonsari, C Leverd
Publikováno v:
Journal of Stomatology, Oral and Maxillofacial Surgery
Journal of Stomatology, Oral and Maxillofacial Surgery, Elsevier Masson, 2020, 121, pp.461-462. ⟨10.1016/j.jormas.2019.12.020⟩
Journal of Stomatology, Oral and Maxillofacial Surgery, 2020, 121, pp.461-462. ⟨10.1016/j.jormas.2019.12.020⟩
Journal of Stomatology, Oral and Maxillofacial Surgery, Elsevier Masson, 2020, 121, pp.461-462. ⟨10.1016/j.jormas.2019.12.020⟩
Journal of Stomatology, Oral and Maxillofacial Surgery, 2020, 121, pp.461-462. ⟨10.1016/j.jormas.2019.12.020⟩
International audience; No abstract available
Autor:
B. Catteau, Catherine Droitcourt, Julien Seneschal, C. Mazaud, Hélène Aubert, A. Beauchet, E. Mahé, Marie Jachiet, Eve Puzenat, C. Abasq, Audrey Nosbaum, D. Staumont, Stéphanie Mallet, Great, Didier Bessis, Audrey Lasek, Sébastien Barbarot, J. Delaunay, F. Aubin, Marie Tauber
Publikováno v:
Annales de Dermatologie et de Vénéréologie. 146:A107-A108
Introduction Plusieurs essais controles ont montre l’efficacite du dupilumab dans la dermatite atopique (DA) moderee a severe de l’adulte. Son utilisation est pour le moment limitee aux adultes (phase III chez l’enfant non publiee). Nous presen
Publikováno v:
Section 3: Production and Compounding.
Background Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (CHILD) syndrome is a rare X-linked dominant disorder of cholesterol metabolism that clinically expresses as an epidermical hamartoma. Using co-application
Autor:
J. Mazareeuw-Hautier, E. Mahé, J. Delaunay, A. Welfringer, M. Raynal, Delphine Staumont-Sallé, Claire Abasq-Thomas, Florence Tetart, B. Milpied, B. Ben Said, B. Catteau, E. Bedouelle, C. Bernier, Stéphanie Mallet, Eve Puzenat, Evelyne Collet, Christine Chiaverini, Annabel Maruani, B. Sterling, F. Dezoteux
Publikováno v:
Revue Française d'Allergologie. 61:288
Introduction Le DRESS est une toxidermie severe rare et potentiellement fatale. La variabilite des presentations cliniques peut etre source d’errance diagnostique et de retard a la prise en charge. Le but de notre etude etait de decrire les caracte
Akademický článek
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