Hilde Brems

Hilde Brems

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Hilde Brems

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

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

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http://dx.doi.org/10.1002/humu.23783DOI Listing
October 2019

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 Alejandro Negro Bernat Gel Andreu Alibés Neus Baena Mercè Pineda Graciela Pi Guillem Pintos Hector Salvador Conxi Lazaro Ignacio Blanco Lluïsa Vilageliu Hilde Brems Daniel Grinberg Eric Legius Eduard Serra

Clin Genet 2019 Oct 1. Epub 2019 Oct 1.

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

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http://dx.doi.org/10.1111/cge.13649DOI Listing
October 2019

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

Authors:
Matteo Boretto Nina Maenhoudt Xinlong Luo Aurélie Hennes Bram Boeckx Bich Bui Ruben Heremans Lisa Perneel 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

Nat Cell Biol 2019 Aug 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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http://dx.doi.org/10.1038/s41556-019-0360-zDOI Listing
August 2019

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

Authors:
Alexander Pemov Nancy F Hansen Sivasish Sindiri Rajesh Patidar Christine S Higham Eva Dombi Markku M Miettinen Patricia Fetsch Hilde Brems Settara Chandrasekharappa Kristine Jones Bin Zhu Jun S Wei James C Mullikin Margaret R Wallace Javed Khan Eric Legius Brigitte C Widemann Douglas R Stewart

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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http://dx.doi.org/10.1093/neuonc/noz028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6682216PMC
February 2019

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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http://dx.doi.org/10.1093/neuonc/noy013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5961015PMC
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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http://dx.doi.org/10.1111/pde.13441DOI Listing
May 2018

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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https://linkinghub.elsevier.com/retrieve/pii/S23525126173024
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http://dx.doi.org/10.1016/j.jdcr.2017.09.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911779PMC
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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http://dx.doi.org/10.1146/annurev-genom-091416-035332DOI Listing
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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http://dx.doi.org/10.1007/s00431-017-2921-0DOI Listing
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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http://dx.doi.org/10.1007/s00431-016-2757-zDOI Listing
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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http://dx.doi.org/10.1016/j.jcms.2016.05.010DOI Listing
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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http://dx.doi.org/10.1074/jbc.M115.703710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4751360PMC
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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http://dx.doi.org/10.1053/j.gastro.2015.06.013DOI Listing
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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http://dx.doi.org/10.1186/s12881-015-0146-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422428PMC
February 2015

Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability.

Authors:
Joke Vandewalle Marion Langen Marlen Zschätzsch Marlen Zschaetzsch Bonnie Nijhof Jamie M Kramer Hilde Brems Marijke Bauters Elsa Lauwers Mohammed Srahna Peter Marynen Patrik Verstreken Annette Schenck Bassem A Hassan Guy Froyen

PLoS One 2013 26;8(11):e81791. Epub 2013 Nov 26.

Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium ; Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0081791PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841167PMC
October 2014

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.

Authors:
Thomas De Raedt Eline Beert Eric Pasmant Armelle Luscan Hilde Brems Nicolas Ortonne Kristian Helin Jason L Hornick Victor Mautner Hildegard Kehrer-Sawatzki Wade Clapp James Bradner Michel Vidaud Meena Upadhyaya Eric Legius Karen Cichowski

Nature 2014 Oct 13;514(7521):247-51. Epub 2014 Aug 13.

1] Genetics Division, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA [2] Harvard Medical School, Boston, Massachusetts 02115, USA [3] Ludwig Center at Dana-Farber/Harvard Cancer Center, Boston, Massachusetts 02115, USA.

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http://www.nature.com/articles/nature13561
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http://dx.doi.org/10.1038/nature13561DOI Listing
October 2014

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

Authors:
Douglas R Stewart Hilde Brems Alicia G Gomes Sarah L Ruppert Tom Callens Jennifer Williams Kathleen Claes Michael B Bober Rachel Hachen Leonard B Kaban Hua Li Angela Lin Marie McDonald Serge Melancon June Ortenberg Heather B Radtke Ignace Samson Robert A Saul Joseph Shen Elizabeth Siqveland Tomi L Toler Merel van Maarle Margaret Wallace Misti Williams Eric Legius Ludwine Messiaen

Genet Med 2014 Jun 14;16(6):448-59. Epub 2013 Nov 14.

Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Alabama, USA.

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http://www.nature.com/articles/gim2013163
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http://dx.doi.org/10.1038/gim.2013.163DOI Listing
June 2014

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

Authors:
Hilde Brems Eric Legius

Keio J Med 2013 10;62(4):107-12. Epub 2013 Dec 10.

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

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June 2014

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

Authors:
Julia Vogt Kathrin Bengesser Kathleen B M Claes Katharina Wimmer Victor-Felix Mautner Rick van Minkelen Eric Legius Hilde Brems Meena Upadhyaya Josef Högel Conxi Lazaro Thorsten Rosenbaum Simone Bammert Ludwine Messiaen David N Cooper Hildegard Kehrer-Sawatzki

Genome Biol 2014 Jun 2;15(6):R80. Epub 2014 Jun 2.

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http://genomebiology.biomedcentral.com/articles/10.1186/gb-2
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http://dx.doi.org/10.1186/gb-2014-15-6-r80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229983PMC
June 2014

EPCAM germline and somatic rearrangements in Lynch syndrome: identification of a novel 3'EPCAM deletion.

Authors:
Marijke Spaepen Esther Neven Xavier Sagaert Gert De Hertogh Eline Beert Katharina Wimmer Gert Matthijs Eric Legius Hilde Brems

Genes Chromosomes Cancer 2013 Sep 26;52(9):845-54. Epub 2013 Jun 26.

Department of Human Genetics, University Hospital Leuven, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1002/gcc.22080DOI Listing
September 2013

Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.

Authors:
Magdalena Chmara Annekatrin Wernstedt Bartosz Wasag Hilde Peeters Marleen Renard Eline Beert Hilde Brems Tina Giner Imke Bieber Henning Hamm Raf Sciot Katharina Wimmer Eric Legius

Genes Chromosomes Cancer 2013 Jul 30;52(7):656-64. Epub 2013 Apr 30.

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

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http://dx.doi.org/10.1002/gcc.22061DOI Listing
July 2013

Review and update of SPRED1 mutations causing Legius syndrome.

Authors:
Hilde Brems Eric Pasmant Rick Van Minkelen Katharina Wimmer Meena Upadhyaya Eric Legius Ludwine Messiaen

Hum Mutat 2012 Nov 1;33(11):1538-46. Epub 2012 Aug 1.

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

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http://dx.doi.org/10.1002/humu.22152DOI Listing
November 2012

Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma.

Authors:
Eline Beert Hilde Brems Marleen Renard Julio Finalet Ferreiro Cindy Melotte Reinhilde Thoelen Ivo De Wever Raf Sciot Eric Legius Maria Debiec-Rychter

Genes Chromosomes Cancer 2012 Sep 14;51(9):852-7. Epub 2012 May 14.

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

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http://doi.wiley.com/10.1002/gcc.21969
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http://dx.doi.org/10.1002/gcc.21969DOI Listing
September 2012

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

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

Eur J Hum Genet 2012 Jun 18;20(6):618-25. Epub 2012 Jan 18.

Department of Medical Genetics, Mayo College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1038/ejhg.2011.275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355267PMC
June 2012

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.

Authors:
Douglas R Stewart Alexander Pemov Peter Van Loo Eline Beert Hilde Brems Raf Sciot Kathleen Claes Evgenia Pak Amalia Dutra Chyi-Chia Richard Lee Eric Legius

Genes Chromosomes Cancer 2012 May 17;51(5):429-37. Epub 2012 Jan 17.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD 20852, USA.

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http://dx.doi.org/10.1002/gcc.21928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295917PMC
May 2012

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.

Authors:
Laura Thomas Gill Spurlock Claire Eudall Nick S Thomas Matthew Mort Stephen E Hamby Nadia Chuzhanova Hilde Brems Eric Legius David N Cooper Meena Upadhyaya

Eur J Hum Genet 2012 Apr 23;20(4):411-9. Epub 2011 Nov 23.

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park Way, Cardiff, UK.

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http://dx.doi.org/10.1038/ejhg.2011.207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306856PMC
April 2012

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors.

Authors:
Eline Beert Hilde Brems Bruno Daniëls Ivo De Wever Frank Van Calenbergh Joseph Schoenaers Maria Debiec-Rychter Olivier Gevaert Thomas De Raedt Annick Van Den Bruel Thomy de Ravel Karen Cichowski Lan Kluwe Victor Mautner Raf Sciot Eric Legius

Genes Chromosomes Cancer 2011 Dec 24;50(12):1021-32. Epub 2011 Aug 24.

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

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http://dx.doi.org/10.1002/gcc.20921DOI Listing
December 2011

Legius syndrome in fourteen families.

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

Hum Mutat 2011 Jan;32(1):E1985-98

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

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http://dx.doi.org/10.1002/humu.21404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3038325PMC
January 2011

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Authors:
Ludwine Messiaen Suxia Yao Hilde Brems Tom Callens Achara Sathienkijkanchai Ellen Denayer Emily Spencer Pamela Arn Dusica Babovic-Vuksanovic Carolyn Bay Gary Bobele Bruce H Cohen Luis Escobar Deborah Eunpu Theresa Grebe Robert Greenstein Rachel Hachen Mira Irons David Kronn Edmond Lemire Kathleen Leppig Cynthia Lim Marie McDonald Vinodh Narayanan Amy Pearn Robert Pedersen Berkley Powell Lawrence R Shapiro David Skidmore David Tegay Heidi Thiese Elaine H Zackai Raymon Vijzelaar Koji Taniguchi Toranoshin Ayada Fuyuki Okamoto Akihiko Yoshimura Annabel Parret Bruce Korf Eric Legius

JAMA 2009 Nov;302(19):2111-8

Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, 720 20th St S, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1001/jama.2009.1663DOI Listing
November 2009

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

Authors:
Hilde Brems Caroline Park Ophélia Maertens Alexander Pemov Ludwine Messiaen Ludwine Messia 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

Cancer Res 2009 Sep 8;69(18):7393-401. Epub 2009 Sep 8.

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

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http://dx.doi.org/10.1158/0008-5472.CAN-09-1752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2747722PMC
September 2009

Pathogenesis of vestibular schwannoma in ring chromosome 22.

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

BMC Med Genet 2009 Sep 22;10:97. Epub 2009 Sep 22.

Department of human genetics, University Hospital Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1186/1471-2350-10-97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758865PMC
September 2009

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

Authors:
Hilde Brems Eline Beert Thomy de Ravel Eric Legius

Lancet Oncol 2009 May;10(5):508-15

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

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http://dx.doi.org/10.1016/S1470-2045(09)70033-6DOI Listing
May 2009

Spred1 is required for synaptic plasticity and hippocampus-dependent learning.

Authors:
Ellen Denayer Tariq Ahmed Hilde Brems Geeske Van Woerden Nils Zuiderveen Borgesius Zsuzsanna Callaerts-Vegh Akihiko Yoshimura Dieter Hartmann Ype Elgersma Rudi D'Hooge Eric Legius Detlef Balschun

J Neurosci 2008 Dec;28(53):14443-9

Department of Human Genetics and Laboratory of Biological Psychology, University of Leuven, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1523/JNEUROSCI.4698-08.2008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6671253PMC
December 2008

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.

Authors:
Katharina Steinmann Lan Kluwe David N Cooper Hilde Brems Thomas De Raedt Eric Legius Viktor-Felix Mautner Hildegard Kehrer-Sawatzki

Eur J Hum Genet 2008 May 23;16(5):572-80. Epub 2008 Jan 23.

Institute of Human Genetics, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5202002DOI Listing
May 2008

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

Authors:
Hilde Brems Magdalena Chmara Mourad Sahbatou Ellen Denayer Koji Taniguchi Reiko Kato Riet Somers Ludwine Messiaen Sofie De Schepper Jean-Pierre Fryns Jan Cools Peter Marynen Gilles Thomas Akihiko Yoshimura Eric Legius

Nat Genet 2007 Sep 19;39(9):1120-6. Epub 2007 Aug 19.

Department of Human Genetics, Catholic University Leuven, 3000 Leuven, Belgium.

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http://www.nature.com/doifinder/10.1038/ng2113
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http://dx.doi.org/10.1038/ng2113DOI Listing
September 2007

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

Authors:
Ophélia Maertens Sofie De Schepper Jo Vandesompele Hilde Brems Ine Heyns Sandra Janssens Frank Speleman Eric Legius Ludwine Messiaen

Am J Hum Genet 2007 Aug 20;81(2):243-51. Epub 2007 Jun 20.

Center for Medical Genetics, Department of Dermatology, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1086/519562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950809PMC
August 2007

Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.

Authors:
Thomas de Raedt Jan Cools Maria Debiec-Rychter Hilde Brems Nicole Mentens Raf Sciot Jacques Himpens Ivo de Wever Patrick Schöffski Peter Marynen Eric Legius

Gastroenterology 2006 Dec;131(6):1907-12

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

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http://dx.doi.org/10.1053/j.gastro.2006.07.002DOI Listing
December 2006

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

Authors:
Thomas De Raedt Matthew Stephens Ine Heyns Hilde Brems Daisy Thijs Ludwine Messiaen Karen Stephens Conxi Lazaro Katharina Wimmer Hildegard Kehrer-Sawatzki Dominique Vidaud Lan Kluwe Peter Marynen Eric Legius

Nat Genet 2006 Dec 19;38(12):1419-23. Epub 2006 Nov 19.

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

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http://dx.doi.org/10.1038/ng1920DOI Listing
December 2006

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

Authors:
Thomas De Raedt Ophélia Maertens Magdalena Chmara Hilde Brems Ine Heyns Raf Sciot Elisa Majounie Meena Upadhyaya Sofie De Schepper Frank Speleman Ludwine Messiaen Joris Robert Vermeesch Eric Legius

Genes Chromosomes Cancer 2006 Oct;45(10):893-904

Center for Human Genetics, University Hospital Leuven, Catholic University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/gcc.20353DOI Listing
October 2006

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

Authors:
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

Hum Mutat 2006 Oct;27(10):1030-40

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/humu.20389DOI Listing
October 2006

The NF1 tumor suppressor critically regulates TSC2 and mTOR.

Authors:
Cory M Johannessen Elizabeth E Reczek Marianne F James Hilde Brems Eric Legius Karen Cichowski

Proc Natl Acad Sci U S A 2005 Jun 3;102(24):8573-8. Epub 2005 Jun 3.

Genetics Division, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, 458c NRB, 77 Louis Pasteur Avenue, Boston, MA 02115, USA.

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http://dx.doi.org/10.1073/pnas.0503224102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1142482PMC
June 2005

Genomic organization and evolution of the NF1 microdeletion region.

Authors:
Thomas De Raedt Hilde Brems Catalina Lopez-Correa Joris Robert Vermeesch Peter Marynen Eric Legius

Genomics 2004 Aug;84(2):346-60

Center of Human Genetics, KULeuven, Herestraat 49, 3000 Louvain, Belgium.

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http://dx.doi.org/10.1016/j.ygeno.2004.03.006DOI Listing
August 2004

Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients.

Authors:
Silke Frahm Victor-F Mautner Hilde Brems Eric Legius Maria Debiec-Rychter Reinhard E Friedrich Wolfram T Knöfel Matthias Peiper Lan Kluwe

Neurobiol Dis 2004 Jun;16(1):85-91

Laboratory of Brain Tumor Biology, Department of Neurosurgery, University Hospital Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1016/j.nbd.2004.01.006DOI Listing
June 2004