Early Adjuvant Medication With the mTOR Inhibitor Sirolimus in a Preterm Neonate With Compressive Cystic Lymphatic Malformation

por Honnorat, Marion, Viremouneix, Loïc, Ayari, Sonia, Guibaud, Laurent, Coste, Karen, Claris, Olivier, Butin, Marine
Publicado 2020

Kasabach–Merritt phenomenon and prenatal counseling: a case series

por Beissel, Anne, Riou, Stéphanie, Fischer Fumeaux, Céline Julie, Cassart, Marie, Blanc, Sébastien, Claris, Olivier, Guibaud, Laurent
Publicado 2016

Propranolol pharmacokinetics in infants treated for Infantile Hemangiomas requiring systemic therapy: Modeling and dosing regimen recommendations

por Del Frari, Laurence, Léauté‐Labrèze, Christine, Guibaud, Laurent, Barbarot, Sébastien, Lacour, Jean‐Philippe, Chaumont, Christine, Delarue, Alain, Voisard, Jean‐Jacques, Brunner, Valérie
Publicado 2018

Vascular network expansion, integrity of blood–brain interfaces, and cerebrospinal fluid cytokine concentration during postnatal development in the normal and jaundiced rat

por Blondel, Sandrine, Strazielle, Nathalie, Amara, Amel, Guy, Rainui, Bain, Christine, Rose, Alix, Guibaud, Laurent, Tiribelli, Claudio, Gazzin, Silvia, Ghersi-Egea, Jean-François
Publicado 2022

French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations

por Leboulanger, Nicolas, Bisdorff, Annouk, Boccara, Olivia, Dompmartin, Anne, Guibaud, Laurent, Labreze, Christine, Lagier, Jacques, Lebrun-Vignes, Bénédicte, Herbreteau, Denis, Joly, Aline, Malloizel-Delaunay, Julie, Martel, Arnaud, Munck, Stéphane, Saint-Aubin, Frédérique, Maruani, Annabel
Publicado 2023

Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series

por Pomar, Léo, Ochoa, José, Cabet, Sara, Huisman, Thierry A. G. M., Paladini, Dario, Klaritsch, Philipp, Galmiche, Aurore, Prayer, Florian, Gacio, Sebastián, Haratz, Karina, Malinger, Gustavo, Van Mieghem, Tim, Baud, David, Bromley, Bryann, Lebon, Sébastien, Dubruc, Estelle, Vial, Yvan, Guibaud, Laurent
Publicado 2022

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

por Morin, Gabriel, Degrugillier-Chopinet, Caroline, Vincent, Marie, Fraissenon, Antoine, Aubert, Hélène, Chapelle, Célia, Hoguin, Clément, Dubos, François, Catteau, Benoit, Petit, Florence, Mezel, Aurélie, Domanski, Olivia, Herbreteau, Guillaume, Alesandrini, Marie, Boddaert, Nathalie, Boutry, Nathalie, Broissand, Christine, Han, Tianxiang Kevin, Branle, Fabrice, Sarnacki, Sabine, Blanc, Thomas, Guibaud, Laurent, Canaud, Guillaume
Publicado 2022

Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observat...

por Maruani, Annabel, Boccara, Olivia, Bessis, Didier, Guibaud, Laurent, Vabres, Pierre, Mazereeuw-Hautier, Juliette, Barbarot, Sébastien, Chiaverini, Christine, Blaise, Sophie, Droitcourt, Catherine, Mallet, Stéphanie, Martin, Ludovic, Lorette, Gérard, Woillard, Jean-Baptiste, Jonville-Bera, Annie-Pierre, Rollin, Jérome, Gruel, Yves, Herbreteau, Denis, Goga, Dominique, le Touze, Anne, Leducq, Sophie, Gissot, Valérie, Morel, Baptiste, Tavernier, Elsa, Giraudeau, Bruno
Publicado 2018

Topical sirolimus 0.1% for treating cutaneous microcystic lymphatic malformations in children and adults (TOPICAL): protocol for a multicenter phase 2, within-person, randomized, d...

por Leducq, Sophie, Caille, Agnès, Barbarot, Sébastien, Bénéton, Nathalie, Bessis, Didier, Boccara, Olivia, Bursztejn, Anne-Claire, Chiaverini, Christine, Dompmartin, Anne, Droitcourt, Catherine, Gissot, Valérie, Goga, Dominique, Guibaud, Laurent, Herbreteau, Denis, Le Touze, Anne, Léauté-Labrèze, Christine, Lorette, Gérard, Mallet, Stéphanie, Martin, Ludovic, Mazereeuw-Hautier, Juliette, Phan, Alice, Plantin, Patrice, Quéré, Isabelle, Vabres, Pierre, Bourgoin, Hélène, Giraudeau, Bruno, Maruani, Annabel
Publicado 2019

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

por Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B., Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A., Thauvin, Christel, Faivre, Laurence, Ross, M. Elizabeth, Rivière, Jean-Baptiste
Publicado 2019

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

por Khatri, Deepak, Putoux, Audrey, Cologne, Audric, Kaltenbach, Sophie, Besson, Alicia, Bertiaux, Eloïse, Guguin, Justine, Fendler, Adèle, Dupont, Marie A., Benoit-Pilven, Clara, Qebibo, Leila, Ahmed-Elie, Samira, Audebert-Bellanger, Séverine, Blanc, Pierre, Rambaud, Thomas, Castelle, Martin, Cornen, Gaëlle, Grotto, Sarah, Guët, Agnès, Guibaud, Laurent, Michot, Caroline, Odent, Sylvie, Ruaud, Lyse, Sacaze, Elise, Hamel, Virginie, Bordonné, Rémy, Leutenegger, Anne-Louise, Edery, Patrick, Burglen, Lydie, Attié-Bitach, Tania, Mazoyer, Sylvie, Delous, Marion
Publicado 2023

PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption

por Ladraa, Sophia, Zerbib, Lola, Bayard, Charles, Fraissenon, Antoine, Venot, Quitterie, Morin, Gabriel, Garneau, Alexandre P., Isnard, Pierre, Chapelle, Célia, Hoguin, Clément, Fraitag, Sylvie, Duong, Jean-Paul, Guibaud, Laurent, Besançon, Alix, Kaltenbach, Sophie, Villarese, Patrick, Asnafi, Vahid, Broissand, Christine, Goudin, Nicolas, Dussiot, Michael, Nemazanyy, Ivan, Viel, Thomas, Autret, Gwennhael, Cruciani-Guglielmacci, Céline, Denom, Jessica, Bruneau, Julie, Tavitian, Bertrand, Legendre, Christophe, Dairou, Julien, Lacorte, Jean-Marc, Levy, Pacifique, Pende, Mario, Polak, Michel, Canaud, Guillaume
Publicado 2022

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

por Gueneau, Lucie, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Tran Mau-Them, Frédéric, Preiksaitiene, Egle, Monroe, Glen R., Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamariya, Ambrozaityte, Laima, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem, Mais, Kurdi, Wesam, Jamuar, Saumya Shekhar, Ying, Lim J., Bonnard, Carine, Pippucci, Tommaso, Pradervand, Sylvain, Roechert, Bernd, van Hasselt, Peter M., Wiederkehr, Michaël, Wright, Caroline F., Xenarios, Ioannis, van Haaften, Gijs, Shaw-Smith, Charles, Schindewolf, Erica M., Neerman-Arbez, Marguerite, Sanlaville, Damien, Lesca, Gaëtan, Guibaud, Laurent, Reversade, Bruno, Chelly, Jamel, Kučinskas, Vaidutis, Alkuraya, Fowzan S., Reymond, Alexandre
Publicado 2018

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

por Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E. R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, Pierre
Publicado 2021