نتائج البحث - Laurent Guibaud

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  1. 1
    Fetal cerebral ventricular measurement and ventriculomegaly: time for procedure standardization

    Fetal cerebral ventricular measurement and ventriculomegaly: time for procedure standardization حسب Laurent Guibaud

    منشور في 2009
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  2. 2
    Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis

    Plea for an anatomical approach to abnormalities of the posterior fossa in prenatal diagnosis حسب Laurent Guibaud, V. des Portes

    منشور في 2006
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  3. 3
    Assessment of fetal Sylvian fissure operculization between 22 and 32 weeks: a subjective approach

    Assessment of fetal Sylvian fissure operculization between 22 and 32 weeks: a subjective approach حسب E. Quarello, J. Stirnemann, Y. Ville, Laurent Guibaud

    منشور في 2008
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  4. 4
    Prenatal diagnosis of cobblestone lissencephaly associated with Walker–Warburg syndrome based on a specific sonographic pattern

    Prenatal diagnosis of cobblestone lissencephaly associated with Walker–Warburg syndrome based on a specific sonographic pattern حسب Audrey Lacalm, Béatrice Nadaud, Mona Massoud, Audrey Putoux, P. Gaucherand, Laurent Guibaud

    منشور في 2015
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  5. 5
    Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders

    Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders حسب E. Quarello, M. Molho, Cathérine Garel, A. Couture, M. P. Legac, Marie‐Laure Moutard, J. Bault, Catherine Fallet‐Bianco, Laurent Guibaud

    منشور في 2013
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  6. 6
    Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis

    Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis حسب Mona Massoud, M. Cagneaux, Cathérine Garel, N. Varene, M.L. Moutard, T. Billette, A. Bénézit, Christelle Rougeot, Jean‐Marie Jouannic, J. Massardier, P. Gaucherand, Vincent Desportes, Laurent Guibaud

    منشور في 2013
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  7. 7
    Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

    Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifica... حسب Yoann Saillour, Ginevra Zanni, V. des Portes, D. Héron, Laurent Guibaud, M T Iba-Zizen, Jean‐Michel Pédespan, Karine Poirier, L. Castelnau, Cédric Julien, C Franconnet, David T. Bonthron, Mary Porteous, Jamel Chelly, Thierry Bienvenu

    منشور في 2007
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  8. 8
    Prenatal prognosis of congenital diaphragmatic hernia using magnetic resonance imaging measurement of fetal lung volume

    Prenatal prognosis of congenital diaphragmatic hernia using magnetic resonance imaging measurement of fetal lung volume حسب G. Gorincour, J. Bouvenot, M.G. Mourot, P. Sonigo, Katia Chaumoître, Cathérine Garel, Laurent Guibaud, F. Rypens, Fred E. Avni, Marie Cassart, B. Maugey‐Laulom, B. Bourlière‐Najean, Françis Brunelle, Charles Durand, D. Eurin

    منشور في 2005
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  9. 9
    Outcome of isolated agenesis of the corpus callosum: A population-based prospective study

    Outcome of isolated agenesis of the corpus callosum: A population-based prospective study حسب Vincent des Portes, Anne Rolland, Juan Velazquez-Dominguez, Emeline Peyric, Marie‐Pierre Cordier, P. Gaucherand, J. Massardier, Mona Massoud, Aurore Curie, Anne-Sophie Pellot, François Rivier, Audrey Lacalm, Amélie Clément, Dorothée Ville, Laurent Guibaud

    منشور في 2017
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  10. 10
    Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

    Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib حسب G Morin, C. Degrugillier-Chopinet, Marie Vincent, Antoine Fraissenon, H. Aubert, Célia Chapelle, Clément Hoguin, François Dubos, B. Catteau, Florence Petit, Aurélie Mezel, Olivia Domanski, Guillaume Herbreteau, Marie Alesandrini, Nathalie Boddaert, Nathalie Boutry, Christine Broissand, Tianxiang Han, Fabrice Branle, Sabine Sarnacki, Thomas Blanc, Laurent Guibaud, Guillaume Canaud

    منشور في 2022
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  11. 11
    Sirolimus (Rapamycin) for Slow-Flow Malformations in Children

    Sirolimus (Rapamycin) for Slow-Flow Malformations in Children حسب A. Maruani, Elsa Tavernier, O. Boccara, J. Mazereeuw‐Hautier, Sophie Leducq, D. Bessis, Laurent Guibaud, P. Vabres, Virginie Carmignac, S. Mallet, S. Barbarot, C. Chiavérini, C. Droitcourt, A.‐C. Bursztejn, Céline Lengellé, Jean‐Baptiste Woillard, Denis Herbreteau, Anne Le Touze, Aline Joly, C. Léauté‐Labrèze, Julie Powell, Hélène Bourgoin, Valérie Gissot, Bruno Giraudeau, Baptiste Morel

    منشور في 2021
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  12. 12
    Targeted therapy for capillary-venous malformations

    Targeted therapy for capillary-venous malformations حسب Lola Zerbib, Sophia Ladraa, Antoine Fraissenon, Charles Bayard, Marina Firpion, Quitterie Venot, Sanela Protic, Clément Hoguin, Amandine Thomas, Sylvie Fraïtag, Jean‐Paul Duong Van Huyen, Sophie Kaltenbach, Estelle Balducci, Coline Lefèvre, Patrick Villarèse, Vahid Asnafi, Christine Broissand, Nicolas Goudin, Ivan Nemazanyy, Gwennhaël Autret, Bertrand Tavitian, Christophe Legendre, Nadia Arzouk, Véronique Minard‐Colin, Caroline Chopinet, Michaël Dussiot, Denise M. Adams, Tristan Mirault, Laurent Guibaud, Paul Isenring, Guillaume Canaud

    منشور في 2024
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  13. 13
    Targeted therapy in patients with PIK3CA-related overgrowth syndrome

    Targeted therapy in patients with PIK3CA-related overgrowth syndrome حسب Quitterie Venot, Thomas Blanc, S. Hadj‐Rabia, Laureline Berteloot, Sophia Ladraa, Jean‐Paul Duong Van Huyen, Estelle Blanc, Simon C. Johnson, Clément Hoguin, O. Boccara, Sabine Sarnacki, Nathalie Boddaert, Stéphanie Pannier, Frank Martinez, Sato Magassa, Junna Yamaguchi, Bertrand Knebelmann, Pierre Merville, Nicolas Grenier, Dominique Joly, Valérie Cormier‐Daire, Caroline Michot, Christine Bole‐Feysot, A. Picard, V. Soupre, Stanislas Lyonnet, Jérémy Sadoine, Lotfi Slimani, Catherine Chaussain, Cécile Laroche-Raynaud, Laurent Guibaud, Christine Broissand, Jeanne Amiel, Christophe Legendre, Fabiola Terzi, Guillaume Canaud

    منشور في 2018
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  14. 14
    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

    KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis حسب Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau‐Them, Eglė Preikšaitienė, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaitytė, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim Jiin Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michael R. Wiederkehr, Caroline F. Wright, Ioannis Xénarios, Gijs van Haaften, Charles Shaw‐Smith, Erica Schindewolf, Marguerite Neerman‐Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond

    منشور في 2017
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  15. 15
    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy حسب Frédéric Tran Mau‐Them, Laurent Guibaud, Laurence Duplomb, Boris Keren, Kristin Lindstrom, Isabelle Marey, Fanny Mochel, M. J. van den Boogaard, Renske Oegema, Caroline Nava, Alice Masurel, Thibaud Jouan, Floor E. Jansen, Margaret Au, Agnes H. Chen, M. Cho, Yannis Duffourd, Ekaterina Lozier, Fedor A. Konovalov, Artem Sharkov, С. А. Коростелев, Benoit Urteaga, Patricia Dickson, M. Concepcion Nuñez Pardo de Vera, Julian A. Martínez‐Agosto, Anaïs Begemann, Markus Zweier, Thomas Schmitt‐Mechelke, Anita Rauch, Christophe Philippe, Koen L.I. van Gassen, S. F. Nelson, John M. Graham, Jennifer Friedman, Laurence Faivre, Henry J. Lin, Christel Thauvin‐Robinet, Antonio Vitobello

    منشور في 2018
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  16. 16
    Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

    Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation حسب Solveig Heide, Myrtille Spentchian, Stéphanie Valence, Julien Buratti, Corinne Mach, Élodie Lejeune, Valérie Olin, Marta Massimello, Daphné Lehalle, L. Mouthon, Sandra Whalen, Anne Faudet, Cyril Mignot, Cathérine Garel, Éléonore Blondiaux, Mathilde Lefebvre, Geneviève Quenum-Miraillet, Sandra Chantot‐Bastaraud, Mathieu Milh, Florence Bretelle, Vincent des Portes, Laurent Guibaud, Audrey Putoux, V. Tsatsaris, Marta Spodenkiewic, Valérie Layet, Rodolphe Dard, Laurent Mandelbrot, Agnès Guët, Sébastien Moutton, Magali Gorce, Mathilde Nizon, Marie Vincent, Claire Bénéteau, Marie-Amélie Rocchisanni, Alexandra Benachi, Julien Saada, Tania Attié‐Bitach, Lucie Guilbaud, P Maurice, Stéphanie Friszer, Jean‐Marie Jouannic, Thierry Billette de Villemeur, Marie‐Laure Moutard, Boris Keren, Delphine Héron

    منشور في 2020
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  17. 17
    A Randomized, Controlled Trial of Oral Propranolol in Infantile Hemangioma

    A Randomized, Controlled Trial of Oral Propranolol in Infantile Hemangioma حسب Christine Léauté-Labrèze, Peter H. Hoeger, J. Mazereeuw‐Hautier, Laurent Guibaud, Eulàlia Baselga, Gintas Pošiūnas, Roderic J Phillips, Héctor Cáceres, Juan Carlos López‐Gutiérrez, Rosalía Ballona, Sheila Fallon Friedlander, Julie Powell, Danuta Perek, B Metz, S. Barbarot, A. Maruani, Zsuzsanna Szalai, Alfons Krol, O. Boccara, R. Foelster‐Holst, Maria Isabel Bosch, John Su, Hana Bučková, Antonio Torrelo, F. Cambazard, R. Grantzow, Orli Wargon, Dariusz Wyrzykowski, Jochen Roessler, José Bernabeu‐Wittel, Adriana Valencia, Przemysław Przewratil, Sharon A. Glick, Elena Pope, Nicholas Birchall, Latanya Benjamin, Anthony J. Mancini, P. Vabres, P Souteyrand, Ilona J. Frieden, Charles I. Berul, Cyrus R. Mehta, S. Prey, F. Boralévi, Caroline Morgan, Stéphane Héritier, Alain Delarue, J.-J. Voisard

    منشور في 2015
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  18. 18
    A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

    A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis حسب Heather E. Olson, Nolwenn Jean‐Marçais, Edward Yang, Delphine Héron, Katrina Tatton‐Brown, Paul A. van der Zwaag, Emilia K. Bijlsma, Bryan L. Krock, E. De Backer, Erik‐Jan Kamsteeg, Margje Sinnema, Margot R.F. Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J. Lunsing, Lydie Bürglen, Gaëtan Lesca, Megan T. Cho, Lacey Smith, Beth Rosen Sheidley, Christelle Moufawad El Achkar, Phillip L. Pearl, Annapurna Poduri, Cara Skraban, Jennifer Tarpinian, Addie I. Nesbitt, Dietje E. Fransen van de Putte, Claudia Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta de Bellescize, Laurent Guibaud, David A. Sweetser, Jessica L. Waxler, Klaas J. Wierenga, Jean Donadieu, Vinodh Narayanan, Keri Ramsey, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau‐Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H. Lelieveld, Janneke Schuurs-Hoeijmakers, Han G. Brunner, Boris Keren, Julien Thévenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet

    منشور في 2018
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  19. 19
    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features حسب Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thévenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remérand, Christine Francannet, Fanny Laffargue, Odile Boespflug‐Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laëtitia Lambert, Christophe Philippe, Mylène Béri‐Dexheimer, Jean‐Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier‐Daire, Marlène Rio, Jean‐Paul Bonnefont, Bernard Échenne, Hubert Journel, Lydie Bürglen, Sandra 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 Pédespan, 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

    منشور في 2018
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