Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Laurent Guibaud"'
Autor:
Florence Petit, Fabienne Giuliano, Juliette Mazereeuw-Hautier, Marjolaine Willems, Christel Thauvin-Robinet, Patricia Blanchet, Laurence Faivre, Elodie Gautier, Anne-Claire Bursztejn, Renaud Touraine, Annick Toutain, Frederico Di Rocco, Maxime Luu, Patrick Edery, Arthur Sorlin, Jean-Luc Alessandri, Nicolas Chassaing, Alice Goldenberg, Christine Chiaverini, Fanny Morice-Picard, Aurore Garde, Stéphanie Arpin, Massimiliano Rossi, Marc Bardou, Claire Nicolas, Gilles Morin, Jenny Cornaton, Cyril Mignot, Christophe Philippe, V. Carmignac, Rodolphe Dard, Joelle Roume, Michèle Mathieu-Dramard, Philippe Khau Van Kien, Pierre Vabres, Didier Lacombe, Diane Doummar, Lucile Pinson, Christine Coubes, Laurent Guibaud, Olivia Boccara
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩
Clinical Genetics, Wiley, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩
Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, n
Autor:
Nicolas Chatron, Alexandre Vasiljevic, Eudeline Alix, Audrey Putoux, Gaetan Lesca, Deborah Osio, Phillip Cox, Laurent Guibaud, Damien Sanlaville, Annie Buenerd, Audrey Labalme, Peter Marks, Sara Cabet
Publikováno v:
Brain. 142:3367-3374
Polymicrogyria is a heterogeneous malformation of cortical development microscopically defined by an excessive folding of the cortical mantle resulting in small gyri with a fused surface. Polymicrogyria is responsible for a wide range of neurological
Autor:
Yahia Mekki, Danièle Combourieu, Laurent Guibaud, Antonin Bal, Annie Buenerd, Pierre-Adrien Bolze, Pascal Gaucherand, Alexandre Gaymard, Jérôme Massardier, Bruno Lina, Mona Massoud, Maxime Pichon, Florence Morfin
Publikováno v:
Annales de biologie clinique. 76:669-674
Chickenpox is a human infection that occurs mainly during childhood. Infection during pregnancy is therefore rare but may cause a congenital infection with malformation in less than 1% of cases. A specific management should be proposed at diagnosis i
Autor:
Laurent Guibaud, Kristin Lindstrom, F. Tran Mau-Them, Alice Masurel, John M. Graham, Yannis Duffourd, Renske Oegema, A. A. Sharkov, Markus Zweier, M. J. van den Boogaard, Thibaud Jouan, Ekaterina R. Lozier, Agnes Chen, M. T. Cho, Sergey Korostelev, Laurence Faivre, Henry J. Lin, F. A. Konovalov, Anaïs Begemann, Patricia I. Dickson, Jennifer Friedman, K.L.I. van Gassen, Boris Keren, Laurence Duplomb, C. Thauvin-Robinet, Moin Vera, Isabelle Marey, Margaret G. Au, Christophe Philippe, Thomas Schmitt-Mechelke, Floor E. Jansen, B. Urteaga, Caroline Nava, Stan F. Nelson, Julian A. Martinez-Agosto, Anita Rauch, Fanny Mochel, Antonio Vitobello
Publikováno v:
Genetics in Medicine, 21(4), 1008. Lippincott Williams and Wilkins
Purpose: Developmental and epileptic encephalopathies (DEEs) are severe clinical conditions characterized by stagnation or decline of cognitive and behavioral abilities preceded, accompanied or followed by seizures. Because DEEs are clinically and ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83b1b30225d1bce3f186d400623a2b18
https://dspace.library.uu.nl/handle/1874/392185
https://dspace.library.uu.nl/handle/1874/392185
Autor:
Patrice Plantin, Anne Le Touze, Isabelle Quéré, Sophie Leducq, Didier Bessis, Denis Herbreteau, Gérard Lorette, Christine Léauté-Labrèze, A. Phan, Catherine Droitcourt, Dominique Goga, Agnès Caille, Bruno Giraudeau, Laurent Guibaud, Juliette Mazereeuw-Hautier, Christine Chiaverini, Sébastien Barbarot, Hélène Bourgoin, Valérie Gissot, Anne Dompmartin, Ludovic Martin, Stéphanie Mallet, Nathalie Beneton, Anne-Claire Bursztejn, Olivia Boccara, Annabel Maruani, Pierre Vabres
Publikováno v:
Trials
Trials, BioMed Central, 2019, 20 (1), ⟨10.1186/s13063-019-3767-8⟩
Trials, Vol 20, Iss 1, Pp 1-11 (2019)
Trials, 2019, 20 (1), ⟨10.1186/s13063-019-3767-8⟩
Trials 1 (20), . (2019)
Trials, BioMed Central, 2019, 20 (1), ⟨10.1186/s13063-019-3767-8⟩
Trials, Vol 20, Iss 1, Pp 1-11 (2019)
Trials, 2019, 20 (1), ⟨10.1186/s13063-019-3767-8⟩
Trials 1 (20), . (2019)
Background Cutaneous microcystic lymphatic malformations (CMLMs) are rare conditions in children and adults. They present as clusters of vesicles full of lymph and blood to various extents, inducing maceration, esthetic impairment, pain, and impaired
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8072d649b933ea488f15bd6b24753ca4
https://hal.inrae.fr/hal-02622848/document
https://hal.inrae.fr/hal-02622848/document
Autor:
Olivia Boccara, Frank Martinez, Jérémy Sadoine, Christine Bole-Feysot, Christophe Legendre, Valérie Cormier-Daire, Jeanne Amiel, Nicolas Grenier, Clément Hoguin, Sato Magassa, Simon C. Johnson, Thomas Blanc, Junna Yamaguchi, Dominique Joly, Christine Broissand, Caroline Michot, Stéphanie Pannier, Estelle Blanc, J P Duong, Arnaud Picard, Lotfi Slimani, Cécile Laroche-Raynaud, Stanislas Lyonnet, Fabiola Terzi, Nathalie Boddaert, Smail Hadj Rabia, Sabine Sarnacki, Sophia Ladraa, Véronique Soupre, Catherine Chaussain, Laureline Berteloot, Bertrand Knebelmann, Quitterie Venot, Guillaume Canaud, Laurent Guibaud, Pierre Merville
Publikováno v:
Nature
Nature, Nature Publishing Group, 2018, 558 (7711), pp.540-546. ⟨10.1038/s41586-018-0217-9⟩
Nature, 2018, 558 (7711), pp.540-546. ⟨10.1038/s41586-018-0217-9⟩
Nature, Nature Publishing Group, 2018, 558 (7711), pp.540-546. ⟨10.1038/s41586-018-0217-9⟩
Nature, 2018, 558 (7711), pp.540-546. ⟨10.1038/s41586-018-0217-9⟩
CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9c918231574b7080218079dba20c07b
https://hal-univ-paris.archives-ouvertes.fr/hal-01877949
https://hal-univ-paris.archives-ouvertes.fr/hal-01877949
Autor:
Mathilde Roukhomovsky, CAR’Echo Collaborative Networks AzuRea, Laurent Guibaud, Marc Leone, Kathia Chaumoitre, Alexandre Diaz, Dominique Chassard, Lionel Bouvet, François-Pierrick Desgranges, Laurent Zieleskiewicz
Publikováno v:
European Journal of Anaesthesiology
European Journal of Anaesthesiology, Lippincott, Williams & Wilkins, 2018, 35 (5), pp.379-389. ⟨10.1097/EJA.0000000000000749⟩
European Journal of Anaesthesiology, 2018, 35 (5), pp.379-389. ⟨10.1097/EJA.0000000000000749⟩
European Journal of Anaesthesiology, Lippincott, Williams & Wilkins, 2018, 35 (5), pp.379-389. ⟨10.1097/EJA.0000000000000749⟩
European Journal of Anaesthesiology, 2018, 35 (5), pp.379-389. ⟨10.1097/EJA.0000000000000749⟩
International audience; BACKGROUNDUltrasound examination of the gastric antrum allows reliable pre-operative assessment of gastric contents and volume in adult patients. However, during pregnancy, the change in the anatomical position of the stomach
Autor:
Marguerite, Miguet, Laurence, Faivre, Jeanne, Amiel, Mathilde, Nizon, Renaud, Touraine, Fabienne, Prieur, Laurent, Pasquier, Mathilde, Lefebvre, Julien, Thevenon, Christèle, Dubourg, Sophie, Julia, Catherine, Sarret, Ganaëlle, Remerand, Christine, Francannet, Fanny, Laffargue, Odile, Boespflug-Tanguy, Albert, David, Bertrand, Isidor, Jacqueline, Vigneron, Bruno, Leheup, Laetitia, Lambert, Christophe, Philippe, Mylène, Béri-Dexheimer, Jean-Marie, Cuisset, Joris, Andrieux, Ghislaine, Plessis, Annick, Toutain, Laurent, Guibaud, Valérie, Cormier-Daire, Marlene, Rio, Jean-Paul, Bonnefont, Bernard, Echenne, Hubert, Journel, Lydie, Burglen, Sandrine, Chantot-Bastaraud, Thierry, Bienvenu, Clarisse, Baumann, Laurence, Perrin, Séverine, Drunat, Pierre-Simon, Jouk, Klaus, Dieterich, Françoise, Devillard, Didier, Lacombe, Nicole, Philip, Sabine, Sigaudy, Anne, Moncla, Chantal, Missirian, Catherine, Badens, Nathalie, Perreton, Christel, Thauvin-Robinet, Réseau, AChro-Puce, Jean-Michel, Pedespan, Caroline, Rooryck, Cyril, Goizet, Catherine, Vincent-Delorme, Bénédicte, Duban-Bedu, Nadia, Bahi-Buisson, Alexandra, Afenjar, Kim, Maincent, Delphine, Héron, Jean-Luc, Alessandri, Dominique, Martin-Coignard, Gaëtan, Lesca, Massimiliano, Rossi, Martine, Raynaud, Patrick, Callier, Anne-Laure, Mosca-Boidron, Nathalie, Marle, Charles, Coutton, Véronique, Satre, Cédric Le, Caignec, Valérie, Malan, Serge, Romana, Boris, Keren, Anne-Claude, Tabet, Valérie, Kremer, Sophie, Scheidecker, Adeline, Vigouroux, Marilyn, Lackmy-Port-Lis, Damien, Sanlaville, Marianne, Till, Maryline, Carneiro, Brigitte, Gilbert-Dussardier, Marjolaine, Willems, Hilde, Van Esch, Vincent Des, Portes, Salima, El Chehadeh
Publikováno v:
Journal of medical genetics. 55(6)
The Xq28 duplication involving the
Autor:
Francesco Stillo, Jochen Rössler, Denis Herbreteau, Dirk A. Loose, Johannes Weber, Philippe Petit, Patrick Dupuy, Jean-Michel Bartoli, Corinne Ghienne, Ulrike Ernemann, Laurent Guibaud, Martin Schumacher, Raul Mattassi
Publikováno v:
European Journal of Radiology
European Journal of Radiology, Elsevier, 2011, 80 (3), ⟨10.1016/j.ejrad.2010.12.074⟩
European Journal of Radiology, Elsevier, 2011, 80 (3), ⟨10.1016/j.ejrad.2010.12.074⟩
To study the efficacy and safety of a new sclerosing gel of absolute ethanol in the percutaneous treatment of venous malformations (VM).In this prospective, non-randomized multicenter study patients with clinically and by magnetic resonance imaging d
Autor:
Marie-Thérèse Zabot, Patrick Edery, Laurent Guibaud, Marianne Till, Azim Rafat, Caroline Schluth-Bolard, Laurence Michel-Calemard, Damien Sanlaville, Marc Nicolino, Audrey Labalme
Publikováno v:
American Journal of Medical Genetics Part A. :2584-2587