HMGA2 immunostaining is a straightforward technique which helps to distinguish pulmonary fat-forming lesions from normal adipose tissue in small biopsies: a retrospective observati...

di Piton, Nicolas, Angot, Émilie, Marguet, Florent, Sabourin, Jean-Christophe
Pubblicato in Diagn Pathol (2017)

Microangiopathy in primary familial brain calcification: Evidence from skin biopsies

di Nicolas, Gaël, Marguet, Florent, Laquerrière, Annie, Mendes de Oliveira, João Ricardo, Hannequin, Didier
Pubblicato in Neurol Genet (2017)

TERT Promoter Alterations in Glioblastoma: A Systematic Review

di Olympios, Nathalie, Gilard, Vianney, Marguet, Florent, Clatot, Florian, Di Fiore, Frédéric, Fontanilles, Maxime
Pubblicato in Cancers (Basel) (2021)

Prenatal alcohol exposure is a leading cause of interneuronopathy in humans

di Marguet, Florent, Friocourt, Gaëlle, Brosolo, Mélanie, Sauvestre, Fanny, Marcorelles, Pascale, Lesueur, Céline, Marret, Stéphane, Gonzalez, Bruno J., Laquerrière, Annie
Pubblicato in Acta Neuropathol Commun (2020)

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

di Marguet, Florent, Vezain, Myriam, Marcorelles, Pascale, Audebert-Bellanger, Séverine, Cassinari, Kévin, Drouot, Nathalie, Chambon, Pascal, Gonzalez, Bruno J., Horowitz, Arie, Laquerriere, Annie, Saugier-Veber, Pascale
Pubblicato in Acta Neuropathol Commun (2021)

Prenatal alcohol exposure impairs autophagy in neonatal brain cortical microvessels

di Girault, Virginie, Gilard, Vianney, Marguet, Florent, Lesueur, Céline, Hauchecorne, Michelle, Ramdani, Yasmina, Laquerrière, Annie, Marret, Stéphane, Jégou, Sylvie, Gonzalez, Bruno Jose, Brasse-Lagnel, Carole, Bekri, Soumeya
Pubblicato in Cell Death Dis (2017)

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

di Trimouille, Aurélien, Marguet, Florent, Sauvestre, Fanny, Lasseaux, Eulalie, Pelluard, Fanny, Martin-Négrier, Marie-Laure, Plaisant, Claudio, Rooryck, Caroline, Lacombe, Didier, Arveiler, Benoît, Boespflug-Tanguy, Odile, Naudion, Sophie, Laquerrière, Annie
Pubblicato in Acta Neuropathol Commun (2020)

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

di Goldenberg, Alice, Marguet, Florent, Gilard, Vianney, Cardine, Aude-Marie, Hassani, Adnan, Doz, François, Radi, Sophie, Vasseur, Stéphanie, Bou, Jacqueline, Branchaud, Maud, Houdayer, Claude, Baert-Desurmont, Stéphanie, Laquerriere, Annie, Frebourg, Thierry
Pubblicato in Acta Neuropathol Commun (2019)

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

di Saugier-Veber, Pascale, Marguet, Florent, Lecoquierre, François, Adle-Biassette, Homa, Guimiot, Fabien, Cipriani, Sara, Patrier, Sophie, Brasseur-Daudruy, Marie, Goldenberg, Alice, Layet, Valérie, Capri, Yline, Gérard, Marion, Frébourg, Thierry, Laquerrière, Annie
Pubblicato in Acta Neuropathol Commun (2017)

Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma

di Fontanilles, Maxime, Marguet, Florent, Beaussire, Ludivine, Magne, Nicolas, Pépin, Louis-Ferdinand, Alexandru, Cristina, Tennevet, Isabelle, Hanzen, Chantal, Langlois, Olivier, Jardin, Fabrice, Laquerrière, Annie, Sarafan-Vasseur, Nasrin, Di Fiore, Fréderic, Clatot, Florian
Pubblicato in Acta Neuropathol Commun (2020)

Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging

di Dabaj, Ivana, Ferey, Justine, Marguet, Florent, Gilard, Vianney, Basset, Carole, Bahri, Youssef, Brehin, Anne-Claire, Vanhulle, Catherine, Leturcq, France, Marret, Stéphane, Laquerrière, Annie, Schmitz-Afonso, Isabelle, Afonso, Carlos, Bekri, Soumeya, Tebani, Abdellah
Pubblicato in Sci Rep (2021)

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

di Maluenda, Jérôme, Manso, Constance, Quevarec, Loic, Vivanti, Alexandre, Marguet, Florent, Gonzales, Marie, Guimiot, Fabien, Petit, Florence, Toutain, Annick, Whalen, Sandra, Grigorescu, Romulus, Coeslier, Anne Dieux, Gut, Marta, Gut, Ivo, Laquerrière, Annie, Devaux, Jérôme, Melki, Judith
Pubblicato in Am J Hum Genet (2016)

Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma

di Fontanilles, Maxime, Marguet, Florent, Bohers, Élodie, Viailly, Pierre-Julien, Dubois, Sydney, Bertrand, Philippe, Camus, Vincent, Mareschal, Sylvain, Ruminy, Philippe, Maingonnat, Catherine, Lepretre, Stéphane, Veresezan, Elena-Liana, Derrey, Stéphane, Tilly, Hervé, Picquenot, Jean-Michel, Laquerrière, Annie, Jardin, Fabrice
Pubblicato in Oncotarget (2017)

Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma

di Fontanilles, Maxime, Marguet, Florent, Ruminy, Philippe, Basset, Carole, Noel, Adrien, Beaussire, Ludivine, Viennot, Mathieu, Viailly, Pierre-Julien, Cassinari, Kevin, Chambon, Pascal, Richard, Doriane, Alexandru, Cristina, Tennevet, Isabelle, Langlois, Olivier, Di Fiore, Frédéric, Laquerrière, Annie, Clatot, Florian, Sarafan-Vasseur, Nasrin
Pubblicato in Acta Neuropathol Commun (2020)

Targeting the Urotensin II/UT G Protein-Coupled Receptor to Counteract Angiogenesis and Mesenchymal Hypoxia/Necrosis in Glioblastoma

di Le Joncour, Vadim, Guichet, Pierre-Olivier, Dembélé, Kleouforo-Paul, Mutel, Alexandre, Campisi, Daniele, Perzo, Nicolas, Desrues, Laurence, Modzelewski, Romain, Couraud, Pierre-Olivier, Honnorat, Jérôme, Ferracci, François-Xavier, Marguet, Florent, Laquerrière, Annie, Vera, Pierre, Bohn, Pierre, Langlois, Olivier, Morin, Fabrice, Gandolfo, Pierrick, Castel, Hélène
Pubblicato in Front Cell Dev Biol (2021)

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease

di Nicolas, Gaël, Acuña-Hidalgo, Rocío, Keogh, Michael J., Quenez, Olivier, Steehouwer, Marloes, Lelieveld, Stefan, Rousseau, Stéphane, Richard, Anne-Claire, Oud, Manon S., Marguet, Florent, Laquerrière, Annie, Morris, Chris M., Attems, Johannes, Smith, Colin, Ansorge, Olaf, Al Sarraj, Safa, Frebourg, Thierry, Campion, Dominique, Hannequin, Didier, Wallon, David, Gilissen, Christian, Chinnery, Patrick F., Veltman, Joris A., Hoischen, Alexander
Pubblicato in Alzheimers Dement (2018)

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita

di Xue, Shifeng, Maluenda, Jérôme, Marguet, Florent, Shboul, Mohammad, Quevarec, Loïc, Bonnard, Carine, Ng, Alvin Yu Jin, Tohari, Sumanty, Tan, Thong Teck, Kong, Mung Kei, Monaghan, Kristin G., Cho, Megan T., Siskind, Carly E., Sampson, Jacinda B., Rocha, Carolina Tesi, Alkazaleh, Fawaz, Gonzales, Marie, Rigonnot, Luc, Whalen, Sandra, Gut, Marta, Gut, Ivo, Bucourt, Martine, Venkatesh, Byrappa, Laquerrière, Annie, Reversade, Bruno, Melki, Judith
Pubblicato in Am J Hum Genet (2017)