Hilde Brems

Department of Experimental Hematology and Cancer Biology, Cincinati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinanti School of Medicine, Cincinnati, OH, USA.

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January 2020

Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.

Authors:

Elisabeth Castellanos Inma Rosas Alex Negro Bernat Gel Andreu Alibés Neus Baena Mercè Pineda Graciela Pi Guillem Pintos Hector Salvador Conxi Lázaro Ignacio Blanco Lluïsa Vilageliu Hilde Brems Daniel Grinberg Eric Legius Eduard Serra

Clin Genet 2020 02 12;97(2):264-275. Epub 2019 Dec 12.

Hereditary Cancer Group, Program of Predictive and Personalized Medicine of Cancer (PMPPC), Germans Trias & Pujol Research Institute (IGTP), Barcelona, Spain.

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February 2020

Patient-derived organoids from endometrial disease capture clinical heterogeneity and are amenable to drug screening.

Nat Cell Biol 2019 08 1;21(8):1041-1051. Epub 2019 Aug 1.

Laboratory of Tissue Plasticity in Health and Disease, Stem Cell and Developmental Biology Cluster, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

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August 2019

Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site.

Authors:

Carlijn Brekelmans Silke Hollants Caroline De Groote Natalie Sohier Marina Maréchal Liesbet Geris Frank P Luyten Lieve Ginckels Raf Sciot Thomy de Ravel Luc De Smet Johan Lammens Eric Legius Hilde Brems

Hum Mutat 2019 10 18;40(10):1760-1767. Epub 2019 Jun 18.

Department of Human Genetics, KU Leuven-University of Leuven, Leuven, Belgium.

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October 2019

Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas.

Neuro Oncol 2019 Feb 5. Epub 2019 Feb 5.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.

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February 2019

Nevus anemicus and RASopathies.

Authors:

Charlotte Bulteel Marie-Anne Morren Petra De Haes Ellen Denayer Eric Legius Hilde Brems

JAAD Case Rep 2018 May 6;4(4):390-391. Epub 2018 Apr 6.

Department of Human Genetics, University Hospital Leuven, Leuven, Belgium.

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May 2018

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.

Authors:

Pieter Denorme Marie-Anne Morren Silke Hollants Marijke Spaepen Kate Suaer Nele Zutterman Veerle Labarque Eric Legius Hilde Brems

Pediatr Dermatol 2018 May 1;35(3):e186-e188. Epub 2018 Mar 1.

Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.

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May 2018

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

Authors:

Christine S Higham Eva Dombi Aljosja Rogiers Sucharita Bhaumik Steven Pans Steve E J Connor Markku Miettinen Raf Sciot Roberto Tirabosco Hilde Brems Andrea Baldwin Eric Legius Brigitte C Widemann Rosalie E Ferner

Neuro Oncol 2018 05;20(6):818-825

Neurofibromatosis Center, Department of Neurology, Guy's and St. Thomas' NHS Foundation Trust, London and King's College, London, England.

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May 2018

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

Authors:

Sarah C Borrie Hilde Brems Eric Legius Claudia Bagni

Annu Rev Genomics Hum Genet 2017 08;18:115-142

Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium.

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August 2017

Erratum to: Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.

Authors:

Kjell Van Royen Hilde Brems Eric Legius Johan Lammens Armand Laumen

Eur J Pediatr 2017 07;176(7):993

Department of Orthopaedics and Traumatology, UZ Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium.

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July 2017

Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia.

Authors:

Kjell Van Royen Hilde Brems Eric Legius Johan Lammens Armand Laumen

Eur J Pediatr 2016 09 12;175(9):1193-1198. Epub 2016 Aug 12.

Department of Orthopaedics and Traumatology, UZ Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium.

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September 2016

Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis type 1: Evidence for second hit mutation of NF1 gene in the jaw lesion and treatment with curettage and bone substitute materials.

Authors:

Reinhard E Friedrich Tobias J Grob Silke Hollants Jozef Zustin Marijke Spaepen Victor F Mautner Andreas M Luebke Christian Hagel Eric Legius Hilde Brems

J Craniomaxillofac Surg 2016 Aug 15;44(8):1054-60. Epub 2016 May 15.

Department of Human Genetics, Catholic University Leuven/University Hospital Leuven, Leuven, Belgium.

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August 2016

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.

Authors:

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

J Biol Chem 2016 Feb 3;291(7):3124-34. Epub 2015 Dec 3.

From the Department of Microbiology and Immunology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan,

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February 2016

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

Authors:

Sahra Bodo Chrystelle Colas Olivier Buhard Ada Collura Julie Tinat Noémie Lavoine Agathe Guilloux Alexandra Chalastanis Philippe Lafitte Florence Coulet Marie-Pierre Buisine Denisa Ilencikova Clara Ruiz-Ponte Miriam Kinzel Sophie Grandjouan Hilde Brems Sophie Lejeune Hélène Blanché Qing Wang Olivier Caron Odile Cabaret Magali Svrcek Dominique Vidaud Béatrice Parfait Alain Verloes Ulrich J Knappe Florent Soubrier Isabelle Mortemousque Alexander Leis Jessie Auclair-Perrossier Thierry Frébourg Jean-François Fléjou Natacha Entz-Werle Julie Leclerc David Malka Odile Cohen-Haguenauer Yael Goldberg Anne-Marie Gerdes Faten Fedhila Michèle Mathieu-Dramard Richard Hamelin Badre Wafaa Marion Gauthier-Villars Franck Bourdeaut Eamonn Sheridan Hans Vasen Laurence Brugières Katharina Wimmer Martine Muleris Alex Duval

Gastroenterology 2015 Oct 25;149(4):1017-29.e3. Epub 2015 Jun 25.

INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France. Electronic address:

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October 2015

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

Authors:

Said Farschtschi Victor-Felix Mautner Silke Hollants Christian Hagel Marijke Spaepen Christoph Schulte Eric Legius Hilde Brems

BMC Med Genet 2015 Feb 10;16. Epub 2015 Feb 10.

Department of Human Genetics, KU Leuven - University of Leuven, Leuven, Belgium.

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February 2015

Publications by authors named "Hilde Brems"

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