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1 |
Material Type: Artigo
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Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR PathwaysBorrie, Sarah C ; Brems, Hilde ; Legius, Eric ; Bagni, ClaudiaAnnual review of genomics and human genetics, 2017-08, Vol.18 (1), p.115-142 [Periódico revisado por pares]United States: Annual ReviewsTexto completo disponível |
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Material Type: Artigo
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Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1Brems, Hilde, MSc ; Beert, Eline, MSc ; de Ravel, Thomy, MD ; Legius, Eric, Dr, ProfThe lancet oncology, 2009-05, Vol.10 (5), p.508-515 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumorVanden Bempt, Isabelle ; Vander Borght, Sara ; Sciot, Raf ; Spans, Lien ; Claerhout, Sofie ; Brems, Hilde ; Lehnert, Stefan ; Dehaspe, Luc ; Fransis, Sabine ; Neuville, Bart ; Topal, Baki ; Schöffski, Patrick ; Legius, Eric ; Debiec‐Rychter, MariaGenes chromosomes & cancer, 2021-04, Vol.60 (4), p.239-249 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumorsHigham, Christine S ; Dombi, Eva ; Rogiers, Aljosja ; Bhaumik, Sucharita ; Pans, Steven ; Connor, Steve E J ; Miettinen, Markku ; Sciot, Raf ; Tirabosco, Roberto ; Brems, Hilde ; Baldwin, Andrea ; Legius, Eric ; Widemann, Brigitte C ; Ferner, Rosalie ENeuro-oncology (Charlottesville, Va.), 2018-05, Vol.20 (6), p.818-825 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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The NF1 Tumor Suppressor Critically Regulates TSC2 and mTORJohannessen, Cory M. ; Reczek, Elizabeth E. ; James, Marianne F. ; Brems, Hilde ; Legius, Eric ; Cichowski, Karen ; Cantley, Lewis C.Proceedings of the National Academy of Sciences - PNAS, 2005-06, Vol.102 (24), p.8573-8578 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
6 |
Material Type: Artigo
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Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumorsBeert, Eline ; Brems, Hilde ; Daniëls, Bruno ; De Wever, Ivo ; Van Calenbergh, Frank ; Schoenaers, Joseph ; Debiec-Rychter, Maria ; Gevaert, Olivier ; De Raedt, Thomas ; Van Den Bruel, Annick ; de Ravel, Thomy ; Cichowski, Karen ; Kluwe, Lan ; Mautner, Victor ; Sciot, Raf ; Legius, EricGenes chromosomes & cancer, 2011-12, Vol.50 (12), p.1021-1032 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotypeSomers, Riet ; De Schepper, Sofie ; Denayer, Ellen ; Cools, Jan ; Legius, Eric ; Thomas, Gilles ; Brems, Hilde ; Sahbatou, Mourad ; Taniguchi, Koji ; Kato, Reiko ; Messiaen, Ludwine ; Fryns, Jean-Pierre ; Yoshimura, Akihiko ; Marynen, Peter ; Chmara, MagdalenaNature genetics, 2007-09, Vol.39 (9), p.1120-1126 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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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 Legius Syndrome and Neurofibromatosis Type 1Hirata, Yasuko ; Brems, Hilde ; Suzuki, Mayu ; Kanamori, Mitsuhiro ; Okada, Masahiro ; Morita, Rimpei ; Llano-Rivas, Isabel ; Ose, Toyoyuki ; Messiaen, Ludwine ; Legius, Eric ; Yoshimura, AkihikoThe Journal of biological chemistry, 2016-02, Vol.291 (7), p.3124-3134 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
9 |
Material Type: Artigo
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Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibiaKjell, Van Royen ; Hilde, Brems ; Eric, Legius ; Johan, Lammens ; Armand, LaumenEuropean journal of pediatrics, 2016-09, Vol.175 (9), p.1193-1198 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathiesBeyens, Aude ; Dequeker, Laure ; Brems, Hilde ; Janssens, Sandra ; Syryn, Hannes ; D'Hooghe, Anne ; De Paepe, Pascale ; Vanwalleghem, Lieve ; Stockman, Annelies ; Vankwikelberge, Elena ; De Schepper, Sofie ; Goeteyn, Marleen ; Delbeke, Patricia ; Callewaert, BertInternational journal of molecular sciences, 2022-04, Vol.23 (7), p.4036 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |