Zobrazeno 1 - 10
of 38
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:
Alexandre Reymond, Annie Buenerd, E. Thia, Angeline H.M. Lai, Erica Schindewolf, Sara Cabet, Gaetan Lesca, Lucie Gueneau, Audrey Putoux, Laurent Guibaud, Damien Sanlaville
Publikováno v:
Prenatal Diagnosis. 40:276-281
Autor:
Valérie Gissot, Anne Le Touze, Elsa Tavernier, Sébastien Barbarot, Christine Léauté-Labrèze, Virginie Carmignac, Didier Bessis, Catherine Droitcourt, Denis Herbreteau, Hélène Bourgoin, Sophie Leducq, Julie Powell, Christine Chiaverini, Annabel Maruani, Céline Lengellé, Baptiste Morel, Stéphanie Mallet, Bruno Giraudeau, Juliette Mazereeuw-Hautier, Pierre Vabres, Olivia Boccara, Laurent Guibaud, A. Joly, Anne-Claire Bursztejn, Jean-Baptiste Woillard
Publikováno v:
JAMA Dermatol
Importance Sirolimus is increasingly being used to treat various vascular anomalies, although evidence of its efficacy is lacking. Objective To assess the efficacy and safety of sirolimus for children with slow-flow vascular malformations to better d
Autor:
Laurent Guibaud, Mona Massoud
Publikováno v:
European Journal of Paediatric Neurology. 22:972-988
With advances in fetal imaging, prenatal diagnosis of posterior fossa anomalies has been greatly improved. Based on the anatomical approach proposed by Guibaud and Desportes in 2006, the main anomalies depicted according to the algorithm includes: (1
Autor:
Mona Massoud, Jérôme Massardier, Federico Di Rocco, Laurent Guibaud, Audrey Lacalm, Emmanuel Rault, Pascal Gaucherand
Publikováno v:
European Journal of Paediatric Neurology. 22:910-918
Objective To describe the different prenatal imaging patterns related to primary aqueduct obstruction throughout pregnancy and their impact on prenatal counseling. Method Retrospective review of consecutive prenatal cases of isolated aqueduct obstruc
Autor:
Antoine Ouziel, Y. Gillet, Laurent Guibaud, Dominique Ploin, Tristan Ferry, Simon Vandergugten, Sara Cabet, Kevin Perge, Audrey Lacalm
Publikováno v:
The Pediatric infectious disease journal. 40(5)
Background Due to the low resolution of historical imaging technologies, descriptions of Septic Arthritis of Facet Joint (SAFJ) in children are scarce, though severe cases are known. We first aimed to estimate the incidence rate of SAFJ in children;
Autor:
Sara Cabet, Caroline Bartholmot, Laurent Guibaud, Axel Fichez, Mona Massoud, Vincent des Portes, J. Massardier
Publikováno v:
Fetal diagnosis and therapy. 48(3)
Objectives: Our goal was to provide a better understanding of isolated short corpus callosum (SCC) regarding prenatal diagnosis and postnatal outcome. Methods: We retrospectively reviewed prenatal and postnatal imaging, clinical, and biological data
Autor:
Norine Voisin, Frédéric Tran Mau-Them, Bruno Reversade, Damien Sanlaville, Charles Shaw-Smith, Qamariya Ambusaidi, Egle Preiksaitiene, Saumya Shekhar Jamuar, Glen R. Monroe, Angeline Lai, Alexandre Reymond, Michaël Wiederkehr, Jamel Chelly, Audrey Putoux, Bernd Roechert, Sylvain Pradervand, Caroline F. Wright, Peter M. van Hasselt, Loreta Cimbalistienė, Mais Hashem, Marguerite Neerman-Arbez, Gaetan Lesca, Vaidutis Kučinskas, Gijs van Haaften, Lim J. Ying, Fabienne Allias, Ioannis Xenarios, Laurent Guibaud, Wesam Kurdi, Tommaso Pippucci, Lucie Gueneau, Hanan E. Shamseldin, Julien Delafontaine, Carine Bonnard, Laima Ambrozaityte, Nicolas Guex, Fowzan S. Alkuraya, Richard J. Fish, Erica Schindewolf
Publikováno v:
American Journal of Human Genetics
The American journal of human genetics, Cell Press, 2018, Vol. 102, p. 116-132
American Journal of Human Genetics, Vol. 102, No 1 (2018) pp. 116-132
American journal of human genetics, vol. 102, no. 1, pp. 116-132
American journal of human genetics, 102(1), 116-132. Cell Press
American Journal of Human Genetics, 102(1), 116. Cell Press
DDD Study 2018, ' KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ', American journal of human genetics, vol. 102, no. 1, pp. 116-132 . https://doi.org/10.1016/j.ajhg.2017.12.002
The American journal of human genetics, Cell Press, 2018, Vol. 102, p. 116-132
American Journal of Human Genetics, Vol. 102, No 1 (2018) pp. 116-132
American journal of human genetics, vol. 102, no. 1, pp. 116-132
American journal of human genetics, 102(1), 116-132. Cell Press
American Journal of Human Genetics, 102(1), 116. Cell Press
DDD Study 2018, ' KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ', American journal of human genetics, vol. 102, no. 1, pp. 116-132 . https://doi.org/10.1016/j.ajhg.2017.12.002
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndro
Autor:
Mona Massoud, Josef Shalev, M. Brasseur-Daudruy, Liat Gindes, Catherine Garel, Katrin Karl, Karina Krajden Haratz, Liat Ben-Sira, Z. Leibovitz, M. Tamarkin, Carlos Andrés Contreras Gutierrez de Piñeres, Dorit Lev, Gustavo Malinger, Tally Lerman-Sagie, Laurent Guibaud
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 22(6)
Objectives To describe a unique posterior fossa neuroimaging characteristic of prenatal PHACES syndrome (PS): unilateral cerebellar hypoplasia (UCH) and ipsilateral posterior fossa (PF) cyst communicating with an asymmetrically distended 4th ventricl
Autor:
Valérie Gissot, Laurent Guibaud, Groupe de Recherche de la Société Française de Dermatologie Pédiatrique, Jean-Baptiste Woillard, Christine Chiaverini, Sébastien Barbarot, Catherine Droitcourt, Stéphanie Mallet, Bruno Giraudeau, Juliette Mazereeuw-Hautier, Dominique Goga, Ludovic Martin, Gérard Lorette, Jérôme Rollin, Denis Herbreteau, Didier Bessis, Yves Gruel, Baptiste Morel, Annabel Maruani, Sophie Leducq, Annie-Pierre Jonville-Béra, Anne Le Touze, Elsa Tavernier, Pierre Vabres, Olivia Boccara, Sophie Blaise
Publikováno v:
Trials
Trials, BioMed Central, 2018, 19 (1), pp.340. ⟨10.1186/s13063-018-2725-1⟩
Trials, 2018, 19 (1), pp.340. ⟨10.1186/s13063-018-2725-1⟩
Trials, Vol 19, Iss 1, Pp 1-9 (2018)
Trials, BioMed Central, 2018, 19 (1), pp.340. ⟨10.1186/s13063-018-2725-1⟩
Trials, 2018, 19 (1), pp.340. ⟨10.1186/s13063-018-2725-1⟩
Trials, Vol 19, Iss 1, Pp 1-9 (2018)
Background Slow-flow superficial vascular malformations (VMs) are rare congenital anomalies that can be responsible for pain and functional impairment. Currently, we have no guidelines for their management, which can involve physical bandages, sclero