Not logged in Share Save
Share Save
Close Follow-Up of Patients with Neurofibromatosis Type 1 Reduces the Incidence of Malignant Peripheral Nerve Sheath Tumour Iasella, Maria Pia; Ruttens, Dries; Hompes, Daphne; Vandecaveye, Vincent; Sciot, Raf; Deroose, Christophe; Douchy, Thomas; Decramer, Thomas; Jacobs, Sandra; Denayer, Ellen; Van Calenbergh, Frank; Legius, Eric; Brems, Hilde Share Save
Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration Hirata, Yasuko; Brems, Hilde; van der Auweraer, Seppe; Ohyagi, Masaki; Iizuka, Mana; Mise-Omata, Setsuko; Ito, Minako; Messiaen, Ludwine; Mizuno, Seiya; Takahashi, Satoru; Legius, Eric; Yoshimura, Akihiko Share Save
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial Ottenhoff, Myrthe J.; Mous, Sabine E.; Castricum, Jesminne; Rietman, Andre B.; Oostenbrink, Rianne; van der Vaart, Thijs; Tulen, Joke H. M.; Parra, Alba; Ramos, Federico J.; Legius, Eric; Moll, Henriette A.; Elgersma, Ype; de Wit, Marie-Claire Y. Share Save
Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene Smeijers, Steven; Brems, Hilde; Verhaeghe, Alexander; van Paesschen, Wim; van Loon, Johannes; Van der Auweraer, Seppe; Sciot, Raf; Thal, Dietmar Rudolf; Lagae, Lieven; Legius, Eric; Theys, Tom Share Save
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants Gallon, Richard; Brekelmans, Carlijn; Martin, Marie; Bours, Vincent; Schamschula, Esther; Amberger, Albert; Muleris, Martine; Colas, Chrystelle; Dekervel, Jeroen; De Hertogh, Gert; Coupier, Jerome; Colleye, Orphal; Sepulchre, Edith; Burn, John; Brems, Hilde; Legius, Eric; Wimmer, Katharina Share Save
Gonadal and gonadosomatic mosaicism in NF1: report of two families Seidl-Philipp, Magdalena; Veyt, Nathalie; Schnaiter, Simon; Krogsdam, Anne; Schwendinger, Simon; Maertens, Ophelia; Fauth, Christine; Schmuth, Matthias; Legius, Eric; Wimmer, Katharina; Brems, Hilde Share Save
Gonadal and gonadosomatic mosaicism in NF1: report of two families Seidl-Philipp, Magdalena; Veyt, Nathalie; Schnaiter, Simon; Krogsdam, Anne; Schwendinger, Simon; Maertens, Ophelia; Fauth, Christine; Schmuth, Matthias; Legius, Eric; Wimmer, Katharina; Brems, Hilde Share Save
Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization Mariano, Vittoria; Kanellopoulos, Alexandros K.; Ricci, Carlotta; Di Marino, Daniele; Borrie, Sarah C.; Dupraz, Sebastian; Bradke, Frank; Achsel, Tilmann; Legius, Eric; Odent, Sylvie; Billuart, Pierre; Bienvenu, Thierry; Bagni, Claudia Share Save
Share Save
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse Denomme-Pichon, Anne-Sophie; Collins, Stephan C.; Bruel, Ange-Line; Mikhaleva, Anna; Wagner, Christel; Vancollie, Valerie E.; Thomas, Quentin; Chevarin, Martin; Weber, Mathys; Prada, Carlos E.; Overs, Alexis; Palomares-Bralo, Marta; Santos-Simarro, Fernando; Pacio-Miguez, Marta; Busa, Tiffany; Legius, Eric; Bacino, Carlos A.; Rosenfeld, Jill A.; Le Guyader, Gwenael; Egloff, Matthieu; Le Guillou, Xavier; Mencarelli, Maria Antonietta; Renieri, Alessandra; Grosso, Salvatore; Levy, Jonathan; Dozieres, Blandine; Desguerre, Isabelle; Vitobello, Antonio; Duffourd, Yannis; Lelliott, Christopher J.; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence; Yalcin, Binnaz Share Save
TET2-Driver and NLRC4-Passenger Variants in Adult-Onset Autoinflammation De Langhe, Ellen; Van Loo, Sien; Malengier-Devlies, Bert; Metzemaekers, Mieke; Staels, Frederik; Vandenhaute, Jessica; Berghen, Nathalie; Sciot, Raf; Corveleyn, Anniek; Tsuiko, Olga; Gouwy, Mieke; Lenaerts, Jan; Verschueren, Patrick; Wouters, Carine H.; Proost, Paul; Matthys, Patrick; Legius, Eric; Schrijvers, Rik Share Save
Share Save
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant Aerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde Share Save
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 Carton, Charlotte; Evans, D. Gareth; Blanco, Ignacio; Friedrich, Reinhard E.; Ferner, Rosalie E.; Farschtschi, Said; Salvador, Hector; Azizi, Amedeo A.; Mautner, Victor; Roehl, Claas; Peltonen, Sirkku; Stivaros, Stavros; Legius, Eric; Oostenbrink, Rianne Share Save
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing Tsuiko, Olga; El Ayeb, Yasmine; Jatsenko, Tatjana; Allemeersch, Joke; Melotte, Cindy; Ding, Jia; Debrock, Sophie; Peeraer, Karen; Vanhie, Arne; De Leener, Anne; Pirard, Celine; Kluyskens, Candice; Denayer, Ellen; Legius, Eric; Vermeesch, Joris Robert; Brems, Hilde; Dimitriadou, Eftychia Share Save
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation Plotkin, Scott R.; Messiaen, Ludwine; Legius, Eric; Pancza, Patrice; Avery, Robert A.; Blakeley, Jaishri O.; Babovic-Vuksanovic, Dusica; Ferner, Rosalie; Fisher, Michael J.; Friedman, Jan M.; Giovannini, Marco; Gutmann, David H.; Hanemann, Clemens Oliver; Kalamarides, Michel; Kehrer-Sawatzki, Hildegard; Korf, Bruce R.; Mautner, Victor-Felix; MacCollin, Mia; Papi, Laura; Rauen, Katherine A.; Riccardi, Vincent; Schorry, Elizabeth; Smith, Miriam J.; Stemmer-Rachamimov, Anat; Stevenson, David A.; Ullrich, Nicole J.; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M.; Wolkenstein, Pierre; Evans, D. Gareth Share Save
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge Lannoo, Lore; van Straaten, Khaila; Breckpot, Jeroen; Brison, Nathalie; De Catte, Luc; Dimitriadou, Eftychia; Legius, Eric; Peeters, Hilde; Parijs, Ilse; Tsuiko, Olga; Vancoillie, Leen; Vermeesch, Joris Robert; Van Buggenhout, Griet; Van den Bogaert, Kris; Van Calsteren, Kristel; Devriendt, Koenraad Share Save
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis Evans, D. Gareth; Mostaccioli, Stefania; Pang, David; Connor, Mary Fadzil O.; Pittara, Melpo; Champollion, Nicolas; Wolkenstein, Pierre; Thomas, Nick; Ferner, Rosalie E.; Kalamarides, Michel; Peyre, Matthieu; Papi, Laura; Legius, Eric; Becerra, Juan Luis; King, Andrew; Duff, Chris; Stivaros, Stavros; Blanco, Ignacio Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}
