The NF1 tumor suppressor critically regulates TSC2 and mTOR

Por Johannessen, Cory M., Reczek, Elizabeth E., James, Marianne F., Brems, Hilde, Legius, Eric, Cichowski, Karen
Publicado em 2005

Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation

Por Farschtschi, Said, Mautner, Victor-Felix, Hollants, Silke, Hagel, Christian, Spaepen, Marijke, Schulte, Christoph, Legius, Eric, Brems, Hilde
Publicado no BMC Med Genet (2015)

Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1

Por Maertens, Ophélia , De Schepper, Sofie , Vandesompele, Jo , Brems, Hilde , Heyns, Ine , Janssens, Sandra , Speleman, Frank , Legius, Eric , Messiaen, Ludwine 
Publicado em 2007

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Le...

Por Hirata, Yasuko, Brems, Hilde, Suzuki, Mayu, Kanamori, Mitsuhiro, Okada, Masahiro, Morita, Rimpei, Llano-Rivas, Isabel, Ose, Toyoyuki, Messiaen, Ludwine, Legius, Eric, Yoshimura, Akihiko
Publicado no J Biol Chem (2016)

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

Por Thomas, Laura, Spurlock, Gill, Eudall, Claire, Thomas, Nick S, Mort, Matthew, Hamby, Stephen E, Chuzhanova, Nadia, Brems, Hilde, Legius, Eric, Cooper, David N, Upadhyaya, Meena
Publicado em 2012

Mitotic Recombination of Chromosome Arm 17q as a Cause of Loss of Heterozygosity of NF1 in Neurofibromatosis type 1-associated Glomus Tumors

Por Stewart, Douglas R., Pemov, Alexander, Van Loo, Peter, Beert, Eline, Brems, Hilde, Sciot, Raf, Claes, Kathleen, Pak, Evgenia, Dutra, Amalia, Lee, Chyi-Chia Richard, Legius, Eric
Publicado em 2012

Pathogenesis of vestibular schwannoma in ring chromosome 22

Por Denayer, Ellen, Brems, Hilde, de Cock, Paul, Evans, Gareth D, Van Calenbergh, Frank, Bowers, Naomi, Sciot, Raf, Debiec-Rychter, Maria, Vermeesch, Joris V, Fryns, Jean-Pierre, Legius, Eric
Publicado em 2009

Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a Drosophila Model for Intellectual Disability

Por Vandewalle, Joke, Langen, Marion, Zschaetzsch, Marlen, Nijhof, Bonnie, Kramer, Jamie M., Brems, Hilde, Bauters, Marijke, Lauwers, Elsa, Srahna, Mohammed, Marynen, Peter, Verstreken, Patrik, Schenck, Annette, Hassan, Bassem A., Froyen, Guy
Publicado em 2013

Correction: Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/β-Catenin Pathway in a Drosophila Model for Intellectual Disability

Por Vandewalle, Joke, Langen, Marion, Zschaetzsch, Marlen, Nijhof, Bonnie, Kramer, Jamie M., Brems, Hilde, Bauters, Marijke, Lauwers, Elsa, Srahna, Mohammed, Marynen, Peter, Verstreken, Patrik, Schenck, Annette, Hassan, Bassem A., Froyen, Guy
Publicado em 2014

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

Por Vogt, Julia, Bengesser, Kathrin, Claes, Kathleen BM, Wimmer, Katharina, Mautner, Victor-Felix, van Minkelen, Rick, Legius, Eric, Brems, Hilde, Upadhyaya, Meena, Högel, Josef, Lazaro, Conxi, Rosenbaum, Thorsten, Bammert, Simone, Messiaen, Ludwine, Cooper, David N, Kehrer-Sawatzki, Hildegard
Publicado no Genome Biol (2014)

Glomus tumors in neurofibromatosis type 1: genetic, functional and clinical evidence of a novel association

Por Brems, Hilde, Park, Caroline, Maertens, Ophélia, Pemov, Alexander, Messiaen, Ludwine, Upadhyaya, Meena, Claes, Kathleen, Beert, Eline, Peeters, Kristel, Mautner, Victor, Sloan, Jennifer L., Yao, Lawrence, Lee, Chyi-Chia Richard, Sciot, Raf, Smet, Luc De, Legius, Eric, Stewart, Douglas R.
Publicado em 2009

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome

Por Babovic-Vuksanovic, D, Messiaen, Ludwine, Nagel, Christoph, Brems, Hilde, Scheithauer, Bernd, Denayer, Ellen, Mao, Rong, Sciot, Raf, Janowski, Karen M, Schuhmann, Martin U, Claes, Kathleen, Beert, Eline, Garrity, James A, Spinner, Robert J, Stemmer-Rachamimov, Anat, Gavrilova, Ralitza, Van Calenbergh, Frank, Mautner, Victor, Legius, Eric
Publicado em 2012

Legius Syndrome in Fourteen Families

Por Denayer, Ellen, Chmara, Magdalena, Brems, Hilde, Kievit, Anneke Maat, van Bever, Yolande, Van den Ouweland, Ans MW, Van Minkelen, Rick, de Goede-Bolder, Arja, Oostenbrink, Rianne, Lakeman, Phillis, Beert, Eline, Ishizaki, Takuma, Mori, Tomoaki, Keymolen, Kathelijn, Van den Ende, Jenneke, Mangold, Elisabeth, Peltonen, Sirkku, Brice, Glen, Rankin, Julia, Van Spaendonck-Zwarts, Karin Y, Yoshimura, Akihiko, Legius, Eric
Publicado em 2011