H
Hilde Brems
Researcher at Katholieke Universiteit Leuven
Publications - 76
Citations - 3054
Hilde Brems is an academic researcher from Katholieke Universiteit Leuven. The author has contributed to research in topics: Neurofibromatosis & Germline mutation. The author has an hindex of 23, co-authored 66 publications receiving 2601 citations. Previous affiliations of Hilde Brems include The Catholic University of America & Catholic University of Leuven.
Papers
More filters
Journal ArticleDOI
The NF1 tumor suppressor critically regulates TSC2 and mTOR
Cory M. Johannessen,Elizabeth E. Reczek,Marianne F. James,Hilde Brems,Eric Legius,Karen Cichowski +5 more
TL;DR: It is shown here that the mTOR pathway is tightly regulated by neurofibromin, and the data suggest that rapamycin, or its derivatives, may represent a viable therapy for NF1.
Journal ArticleDOI
Elevated risk for MPNST in NF1 microdeletion patients.
T De Raedt,Hilde Brems,Pierre Wolkenstein,Dominique Vidaud,Silvana Pilotti,Francesco Perrone,Victor-Felix Mautner,Silke Frahm,Raf Sciot,Eric Legius +9 more
TL;DR: It is reported that NF1 microdeletion individuals additionally have a substantially higher lifetime risk for the development of malignant peripheral nerve sheath tumors than individuals with NF1 who do not have an NF1microdeletions.
Journal ArticleDOI
Patient-derived organoids from endometrial disease capture clinical heterogeneity and are amenable to drug screening
Matteo Boretto,Nina Maenhoudt,Xinlong Luo,Aurélie Hennes,Bram Boeckx,Bich Bui,Bich Bui,R. Heremans,Lisa Perneel,Hiroto Kobayashi,Hiroto Kobayashi,Indra Van Zundert,Hilde Brems,Benoit Cox,Marc Ferrante,Hiroshi Uji-i,Kian Peng Koh,Thomas D'Hooghe,Arne Vanhie,Ignace Vergote,Christel Meuleman,Carla Tomassetti,Diether Lambrechts,Joris Vriens,Dirk Timmerman,Hugo Vankelecom +25 more
TL;DR: It is demonstrated that organoids derived from patients with various types of endometrial pathologies can model disease traits and diversity, and can be used as a drug-screening tool.
Journal ArticleDOI
Recombination hotspot in NF1 microdeletion patients
Catalina Lopez-Correa,Michael O. Dorschner,Hilde Brems,Conxi Lázaro,Maurizio Clementi,Meena Upadhyaya,Dennis Dooijes,Ute Moog,Hildegard Kehrer-Sawatzki,J. Lynn Rutkowski,Jean Pierre Fryns,Peter Marynen,Karen Stephens,Eric Legius +13 more
TL;DR: The deletion-junction assay will facilitate the prospective identification of patients with NF1 microdeletion at this hotspot for genotype-phenotype correlation studies and diagnostic evaluation.
Journal ArticleDOI
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Ludwine Messiaen,S. Yao,Hilde Brems,Tom Callens,Achara Sathienkijkanchai,Ellen Denayer,Emily Spencer,Pamela Arn,Dusica Babovic-Vuksanovic,Carolyn Bay,Gary Bobele,Bruce H. Cohen,Luis F. Escobar,Deborah L. Eunpu,Theresa A. Grebe,Robert M. Greenstein,Rachel K. Hachen,Mira Irons,David Kronn,Edmond G. Lemire,Kathleen A. Leppig,Cynthia Lim,Marie T. McDonald,Vinodh Narayanan,Amy Pearn,Robert Pedersen,Berkley R. Powell,Lawrence R. Shapiro,David Skidmore,David Tegay,Heidi Thiese,Elaine H. Zackai,Raymon Vijzelaar,Koji Taniguchi,Koji Taniguchi,Toranoshin Ayada,Fuyuki Okamoto,Akihiko Yoshimura,Akihiko Yoshimura,Annabel H. A. Parret,Bruce R. Korf,Eric Legius +41 more
TL;DR: A high SPRED1 mutation detection rate was found in NF1 mutation-negative families with an autosomal dominant phenotype of CALMs with or without freckling and no other NF1 features, and NFLS was not associated with the peripheral and central nervous system tumors seen inNF1.