Hilde Brems

Hilde Brems

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Hilde Brems

Hilde Brems

Publications by authors named "Hilde Brems"

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43Publications

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

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.

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

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

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.

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.

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.

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.

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

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

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

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

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

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

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.

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.

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.

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

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

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.

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

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

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

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

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

The NF1 tumor suppressor critically regulates TSC2 and mTOR.

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.

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