檢索結果 - Hilde Brems

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  1. 1
    Legius Syndrome, an Update.Molecular Pathology of Mutations in SPRED1

    Legius Syndrome, an Update.Molecular Pathology of Mutations in SPRED1 由 Hilde Brems, Eric Legius

    出版 2013
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  2. 2
    Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways

    Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways 由 Sarah C. Borrie, Hilde Brems, Eric Legius, Claudia Bagni

    出版 2017
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  3. 3
    Unequal Meiotic Crossover: A Frequent Cause of NF1 Microdeletions

    Unequal Meiotic Crossover: A Frequent Cause of NF1 Microdeletions 由 C. Correa, Hilde Brems, Conxi Lázaro, Peter Marynen, Eric Legius

    出版 2000
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  4. 4
    Review and update of<i>SPRED1</i>mutations causing legius syndrome

    Review and update of<i>SPRED1</i>mutations causing legius syndrome 由 Hilde Brems, Éric Pasmant, Rick van Minkelen, Katharina Wimmer, Meena Upadhyaya, Eric Legius, Ludwine Messiaen

    出版 2012
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  5. 5
    The NF1 tumor suppressor critically regulates TSC2 and mTOR

    The NF1 tumor suppressor critically regulates TSC2 and mTOR 由 Cory M. Johannessen, Elizabeth E. Reczek, Marianne F. James, Hilde Brems, Eric Legius, Karen Cichowski

    出版 2005
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  6. 6
    Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1

    Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1 由 Ophélia Maertens, Sofie De Schepper, Jo Vandesompele, Hilde Brems, Ine Heyns, Sandra Janssens, Frank Speleman, Eric Legius, Ludwine Messiaen

    出版 2007
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  7. 7
    Elevated Risk for MPNST in NF1 Microdeletion Patients

    Elevated Risk for MPNST in NF1 Microdeletion Patients 由 Thomas De Raedt, Hilde Brems, P. Wolkenstein, Dominique Vidaud, S. Pilotti, Federica Perrone, Victor‐Felix Mautner, Silke Frahm, Raf Sciot, Eric Legius

    出版 2003
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  8. 8
    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 1

    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... 由 Yasuko Hirata, Hilde Brems, Mayu Suzuki, Mitsuhiro Kanamori, Masahiro Okada, Rimpei Morita, Isabel Llano‐Rivas, Toyoyuki Ose, Ludwine Messiaen, Eric Legius, Akihiko Yoshimura

    出版 2015
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  9. 9
    Analysis of 108 patients with endometrial carcinoma using the PROMISE classification and additional genetic analyses for MMR-D

    Analysis of 108 patients with endometrial carcinoma using the PROMISE classification and additional genetic analyses for MMR-D 由 S. Timmerman, Anne‐Sophie Van Rompuy, Toon Van Gorp, Isabelle Vanden Bempt, Hilde Brems, Els Van Nieuwenhuysen, Sileny Han, P. Neven, Jasper Victoor, Annouschka Laenen, Ignace Vergote

    出版 2020
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  10. 10
    ComprehensiveNF1 screening on cultured Schwann cells from neurofibromas

    ComprehensiveNF1 screening on cultured Schwann cells from neurofibromas 由 Ophélia Maertens, Hilde Brems, Jo Vandesompele, Thomas De Raedt, Ine Heyns, Thorsten Rosenbaum, Sofie De Schepper, Anne De Paepe, Geert Mortier, Sandra Janssens, Frank Speleman, Eric Legius, Ludwine Messiaen

    出版 2006
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  11. 11
    <i>Spred1</i>Is Required for Synaptic Plasticity and Hippocampus-Dependent Learning

    <i>Spred1</i>Is Required for Synaptic Plasticity and Hippocampus-Dependent Learning 由 Ellen Denayer, Tariq Ahmed, Hilde Brems, Geeske M. van Woerden, Nils Z. Borgesius, Zsuzsanna Callaerts‐Vegh, Akihiko Yoshimura, Dieter Hartmann, Ype Elgersma, Rudi D’Hooge, Eric Legius, Detlef Balschun

    出版 2008
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  12. 12
    The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors

    The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors 由 Christine S. Higham, Eva Dombi, Aljosja Rogiers, Sucharita Bhaumik, Steven Pans, Steve Connor, Markku Miettinen, Raf Sciot, Roberto Tirabosco, Hilde Brems, Andrea Baldwin, Eric Legius, Brigitte C. Widemann, Rosalie E. Ferner

    出版 2018
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  13. 13
    Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of <scp>gastrointestinal stromal tumor</scp>

    Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of <scp>gastrointestinal stromal tumor</scp> 由 Isabelle Vanden Bempt, Sara Vander Borght, Raf Sciot, Lien Spans, Sofie Claerhout, Hilde Brems, Stefan Lehnert, Luc De Raedt, Sabine Fransis, Bart Neuville, Baki Topal, Patrick Schöffski, Eric Legius, Maria Dębiec‐Rychter

    出版 2020
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  14. 14
    Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association

    Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association 由 Hilde Brems, Caroline Park, Ophélia Maertens, Alexander Pemov, Ludwine Messiaen, Meena Upadhyaya, Kathleen Claes, Eline Beert, Kristel Peeters, Victor Mautner, Jennifer L. Sloan, Lawrence Yao, Chyi‐Chia Richard Lee, Raf Sciot, Luc De Smet, Eric Legius, Douglas R. Stewart

    出版 2009
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  15. 15
    Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1–associated atypical neurofibromas

    Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1–associated atypical neurofibromas 由 Alexander Pemov, Nancy F. Hansen, Sivasish Sindiri, Rajesh Patidar, Christine S. Higham, Eva Dombi, Markku Miettinen, Patricia Fetsch, Hilde Brems, Settara C. Chandrasekharappa, Kristine Jones, Bin Zhu, Jun S. Wei, James C. Mullikin, Margaret R. Wallace, Javed Khan, Eric Legius, Brigitte C. Widemann, Douglas R. Stewart

    出版 2019
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  16. 16
    Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination

    Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination 由 Mikhail Steklov, Silvia Pandolfi, Maria Francesca Baietti, Alina Batiuk, Paolo Carai, Paul Najm, M. Zhang, Hyunbum Jang, Fabrizio Renzi, Yanyan Cai, Layka Abbasi Asbagh, Ferenc Pastor, Magdalena De Troyer, Michal Šimíček, Enrico Radaelli, Hilde Brems, Eric Legius, Jan Tavernier, Kris Gevaert, Francis Impens, Ludwine Messiaen, Ruth Nussinov, Stéphane Heymans, Sven Eyckerman, Anna Sablina

    出版 2018
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  17. 17
    Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

    Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct... 由 Douglas R. Stewart, Hilde Brems, Alicia Gomes, Sarah L. Ruppert, Tom Callens, Jennifer Williams, Kathleen Claes, Michael B. Bober, Rachel K. Hachen, Leonard B. Kaban, Hua Li, Angela E. Lin, Marie McDonald, Serge B. Melançon, June Ortenberg, Heather B. Radtke, Ignace Samson, Robert A. Saul, Joseph Shen, Elizabeth Siqveland, Tomi L. Toler, Merel van Maarle, Margaret R. Wallace, Misti Williams, Eric Legius, Ludwine Messiaen

    出版 2013
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  18. 18
    Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

    Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents 由 Sahra Bodo, Chrystelle Colas, Olivier Buhard, Ada Collura, Julie Tinat, Noémie Lavoine, Agathe Guilloux, Alexandra Chalastanis, Philippe Lafitte, Florence Coulet, Marie‐Pierre Buisine, Denisa Ilenčíková, Clara Ruíz-Ponte, Miriam Kinzel, S Grandjouan, Hilde Brems, Sophie Lejeune, Hélène Blanché, Qing Wang, Olivier Caron, Odile Cabaret, Magali Svrcek, Dominique Vidaud, Béatrice Parfait, Alain Verloès, Ulrich J. Knappe, Florent Soubrier, Isabelle Mortemousque, Alexander Leis, Jessie Auclair‐Perrossier, Thierry Frébourg, Jean–François Fléjou, Natacha Entz‐Werlé, Julie Leclerc, David Malka, Odile Cohen‐Haguenauer, Yael Goldberg, Anne‐Marie Gerdes, Faten Fedhila, Michèle Mathieu‐Dramard, Richard Hamelin, Wafaa Badre, Marion Gauthier‐Villars, Franck Bourdeaut, Eamonn Sheridan, Hans F. A. Vasen, Laurence Brugières, Katharina Wimmer, Martine Muleris, Alex Duval

    出版 2015
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  19. 19
    Pregnancy After Breast Cancer in Young <i>BRCA </i>Carriers

    Pregnancy After Breast Cancer in Young <i>BRCA </i>Carriers 由 Matteo Lambertini, Eva Blondeaux, Elisa Agostinetto, Anne‐Sophie Hamy, Hee Jeong Kim, Antonio Di Meglio, Rinat Bernstein‐Molho, Florentine Hilbers, Katarzyna Pogoda, Estela Carrasco, Kevin Punie, Jyoti Bajpai, Michail Ignatiadis, Halle C. F. Moore, Kelly‐Anne Phillips, Angela Toss, Christine Rousset‐Jablonski, Fedro A. Peccatori, Tiphaine Renaud, Alberta Ferrari, Shani Paluch–Shimon, Robert Fruscio, Wanda Cui, Stephanie M. Wong, Claudio Vernieri, Kathryn J. Ruddy, Maria Vittoria Dieci, Alexios Matikas, Mariya Rozenblit, Cynthia Villarreal‐Garza, Laura De Marchis, Lucia Del Mastro, Fabio Puglisi, Maria Del Pilar Estevez-Diz, Kenny A. Rodriguez‐Wallberg, Bela Mriňáková, Sarah Meister, Luca Livraghi, Florian Clatot, Rinat Yerushalmi, Carmine De Angelis, Rodrigo Sánchez-Bayona, Icro Meattini, Natalia Cichowska-Cwalińska, Martine Berlière, Mahmoud Salama, Ugo De Giorgi, Amir Sonnenblick, Camila Chiodi, Young‐Jin Lee, Camille Maria, Hatem A. Azim, Luca Boni, Ann H. Partridge, Evandro de Azambuja, Chiara Molinelli, Marianne Paesmans, Lieveke Ameye, Frédéric Amant, Hilde Brems, Sileny Han, Sigrid Hatse, Ines Nevelsteen, Patrick Neven, Ann Smeets, Chantal Van Rompuy, Hans Wildiers, François Duhoux, Federica Giugliano, Carmen Criscitiello, Roberto Borea, Luca Arecco, Alessandra Chirco, Federica Bini, Marta Venturelli, Laura Cortesi, Riccardo Ponzone, Nicoletta Tomasi Cont, Judith Balmañà, Rossella Graffeo, Helena Luna Pais, Alejandro Mohar, Tamara Palacios, Lucia Da Ros, Gianmaria Miolo, Mattia Garutti, Brenno Pastò, Simon Spazzapan, Alessandra Viel, José Alejandro Pérez Fidalgo, Renata Colombo Bonadio, Tamar Peretz‐Yablonski, Chiara Annunziata Pasqualina Anghelone, Angelica Della Valle, Maria Campanella, Valentina Guarneri, Raphaëlle Bas, Pierre-Étienne Heudel, Olivier Trédan, Solenne de Talouet

    出版 2023
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