Eric Legius

Eric Legius

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Eric Legius

Eric Legius

Publications by authors named "Eric Legius"

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From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.

Am J Med Genet A 2019 Jun 25;179(6):1098-1106. Epub 2019 Mar 25.

Division of Neuroscience, Oregon National Primate Research Center, and Department of Cell, Developmental and Cancer Biology, Oregon Health & Science University, Portland, Oregon.

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http://dx.doi.org/10.1002/ajmg.a.61112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6488427PMC
June 2019

The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium.

Clin Chem Lab Med 2019 May 21. Epub 2019 May 21.

Clinical Department of Laboratory Medicine, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium, Phone: 003216347015, Fax: 003216347931.

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http://dx.doi.org/10.1515/cclm-2019-0231DOI Listing
May 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Ophthalmological examination in neurofibromatosis type 1: a long-term retrospective analysis.

Acta Ophthalmol 2018 Dec 26;96(8):e1044-e1046. Epub 2018 Sep 26.

Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1111/aos.13831DOI Listing
December 2018

The biology of cutaneous neurofibromas: Consensus recommendations for setting research priorities.

Neurology 2018 07;91(2 Suppl 1):S14-S20

From the Department of Dermatology (J.P.B., L.Q.L.), UT Southwestern Medical Center, Dallas, TX; Dermatology Branch (D.C.P., I.B.), Center for Cancer Research, National Cancer Institutes of Health, Bethesda, MD; Human Genetics Department (E.H.L.), University of Leuven, Belgium; Division Cancer Immunity Transplantation Infections (P.W.), Paris Est Créteil University, France; Department of Dermatology (R.M.L.), Northwestern University, Chicago, IL; Department of Neurology (J.O.B., S.K.V.), The Neurofibromatosis Therapeutic Acceleration Program, The Johns Hopkins University School of Medicine, Baltimore, MD; and The NF Institute (V.M.R.), La Crescenta, CA.

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http://dx.doi.org/10.1212/WNL.0000000000005788DOI Listing
July 2018

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

Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1.

Am J Med Genet B Neuropsychiatr Genet 2018 04 15;177(3):319-328. Epub 2017 Dec 15.

ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC - Sophia Children's Hospital, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.32612DOI Listing
April 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

An incidental finding of maternal multiple myeloma by non invasive prenatal testing.

Prenat Diagn 2017 12 28;37(12):1257-1260. Epub 2017 Nov 28.

Department of Human Genetics, Center for Human Genetics, and Department of Hematology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/pd.5168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5767741PMC
December 2017

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

J Allergy Clin Immunol 2017 08 10;140(2):543-552.e5. Epub 2017 Jan 10.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.10.031DOI Listing
August 2017

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

Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future.

J Natl Cancer Inst 2017 08;109(8)

Rare Tumor Initiative, Laboratory of Pathology, and Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD; Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, DC; Department of Neurology, Johns Hopkins Hospital, Baltimore, MD; Neurofibromatosis Center, Department of Neurology Guy's Hospital London, London, UK; Department of Neurology, Washington University School of Medicine, St. Louis, MO; Department of Human Genetics, University of Leuven, Leuven, Belgium; Hunstman Cancer Institute, University of Utah, Salt Lake City, UT; Division of Experimental Hematology and Cancer Biology, Department of Pediatrics, Cincinnati Children's Hospital, University of Cincinnati, Cincinnati, OH; Bill and Melinda Gates Foundation, Seattle, WA; Children's Tumor Foundation, New York, NY; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.

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http://dx.doi.org/10.1093/jnci/djx124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057517PMC
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

Visuoperceptual processing in children with neurofibromatosis type 1: True deficit or artefact?

Am J Med Genet B Neuropsychiatr Genet 2017 Jun;174(4):342-358

Leuven Autism Research (LAuRes), KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.b.32522DOI Listing
June 2017

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos.

Hum Reprod 2017 03;32(3):687-697

Department of Human Genetics, Centre for Human Genetics, University Hospitals Leuven, O&N I Herestraat 49 - box 602, KU Leuven, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1093/humrep/dex011DOI Listing
March 2017

Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).

JAMA Psychiatry 2016 Dec;73(12):1276-1284

Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri12Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1001/jamapsychiatry.2016.2600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5298203PMC
December 2016

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

Executive functioning deficits in children with neurofibromatosis type 1: The influence of intellectual and social functioning.

Am J Med Genet B Neuropsychiatr Genet 2016 Apr 15;171B(3):348-62. Epub 2016 Jan 15.

Leuven Autism Research (LAuRes), KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.b.32414DOI Listing
April 2016

Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1.

Neurology 2016 Jan 30;86(2):154-60. Epub 2015 Oct 30.

From the Departments of Neuroscience (T.v.d.V., Y.E.), Pediatrics (T.v.d.V., H.A.M.), and Neurology (A.B.R.), and ENCORE-Expertise Center for Neurodevelopmental Disorders (T.v.d.V., A.B.R., Y.E., H.A.M.), Erasmus MC: University Medical Centre, Rotterdam, the Netherlands; the Department of Human Genetics (E.P., E.L.), Catholic University Leuven; and the Centre for Human Genetics at University Hospital Leuven (E.P., E.L.), Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000002118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731686PMC
January 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Characterizing the microstructural basis of "unidentified bright objects" in neurofibromatosis type 1: A combined in vivo multicomponent T2 relaxation and multi-shell diffusion MRI analysis.

Neuroimage Clin 2014 13;4:649-58. Epub 2014 Apr 13.

Department of Imaging & Pathology, KU Leuven, Herestraat 49, Leuven 3000, Belgium ; Department of Radiology, University Hospitals Leuven, Herestraat 49, Leuven 3000, Belgium ; Medical Imaging Research Center (MIRC), Herestraat 49, Leuven 3000, Belgium ; Leuven Research Institute for Neuroscience & Disease (LIND), Herestraat 49, Leuven 3000, Belgium.

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http://dx.doi.org/10.1016/j.nicl.2014.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053637PMC
October 2015

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

BMC Med Genet 2015 Oct 14;16:95. Epub 2015 Oct 14.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85, Uppsala, Sweden.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-015-0239-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607013PMC
October 2015

Autism spectrum disorder profile in neurofibromatosis type I.

J Autism Dev Disord 2015 Jun;45(6):1649-57

Institute of Brain Behaviour and Mental Health, University of Manchester, Oxford Road, Manchester, M13 9PL, UK.

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http://link.springer.com/10.1007/s10803-014-2321-5
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http://dx.doi.org/10.1007/s10803-014-2321-5DOI Listing
June 2015

Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1.

Am J Med Genet B Neuropsychiatr Genet 2015 Jan 12;168B(1):72-80. Epub 2014 Nov 12.

Department of Human Genetics, Laboratory for Neurofibromatosis Research, KU Leuven, Leuven, Belgium; Center for Human Genetics, UZ Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.b.32280DOI Listing
January 2015

Deficient motor timing in children with neurofibromatosis type 1.

Res Dev Disabil 2014 Nov 20;35(11):3131-8. Epub 2014 Aug 20.

Department of Rehabilitation Sciences and Physiotherapy, Ghent University, Campus Heymans, Ghent University Hospital, 2B3, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ridd.2014.07.059DOI Listing
November 2014

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

Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial.

Lancet Neurol 2013 Nov 1;12(11):1076-83. Epub 2013 Oct 1.

Department of Neuroscience, Erasmus University Medical Centre, Rotterdam, Netherlands; Department of Paediatrics, Erasmus University Medical Centre, Rotterdam, Netherlands; ENCORE Expertise Centre For Neurodevelopmental Disorders, Erasmus University Medical Centre, Rotterdam, Netherlands.

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http://www.thelancet.com/pdfs/journals/laneur/PIIS1474-4422(
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http://linkinghub.elsevier.com/retrieve/pii/S147444221370227
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http://dx.doi.org/10.1016/S1474-4422(13)70227-8DOI Listing
November 2013

Ophthalmological assessment of children with neurofibromatosis type 1.

Eur J Pediatr 2013 Oct 25;172(10):1327-33. Epub 2013 May 25.

Department of Ophthalmology, University Hospitals Leuven, Campus Sint Rafaël, Kapucijnenvoer 33, 3000, Leuven, Belgium,

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http://dx.doi.org/10.1007/s00431-013-2035-2DOI Listing
October 2013

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

Multiple granular cell tumors in a child with Noonan syndrome.

Eur J Pediatr Surg 2013 Jun 22;23(3):257-9. Epub 2012 Aug 22.

Department of Surgical Oncology, UZ Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1055/s-0032-1322537DOI Listing
June 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

Molecular characterization of two novel KIT mutations in patients with piebaldism.

J Dermatol Sci 2012 Apr 24;66(1):78-9. Epub 2011 Dec 24.

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http://dx.doi.org/10.1016/j.jdermsci.2011.12.010DOI Listing
April 2012

Gustatory flushing (auriculotemporal nerve syndrome) in children with neurofibromatosis type 1 and facial plexiform neurofibromas.

J Pediatr 2011 Jun 16;158(6):1034-1034.e1. Epub 2011 Feb 16.

Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476100115
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http://dx.doi.org/10.1016/j.jpeds.2010.12.038DOI Listing
June 2011

An 8.9 year old girl with autism and Gorlin syndrome.

Eur J Paediatr Neurol 2011 May 28;15(3):268-70. Epub 2010 Dec 28.

Department of Child and Adolescent Psychiatry, Catholic University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2010.12.001DOI Listing
May 2011

Juvenile xanthogranuloma of the corneoscleral limbus: report of two cases.

Ophthalmic Genet 2011 Mar 21;32(1):54-6. Epub 2010 Dec 21.

Department of Ophthalmology, University Hospitals, Leuven, Belgium.

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http://dx.doi.org/10.3109/13816810.2010.535888DOI Listing
March 2011

Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations.

Am J Med Genet A 2010 Nov;152A(11):2768-74

Baskent University Faculty of Medicine, Department of Pediatrics and Clinical Genetics, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.33713DOI Listing
November 2010

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

Eur J Med Genet 2010 May-Jun;53(3):117-21. Epub 2010 Mar 17.

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2010.03.001DOI Listing
October 2010

Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1.

J Med Genet 2010 Aug 7;47(8):525-32. Epub 2010 Jun 7.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 4A62, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1136/jmg.2009.073965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412429PMC
August 2010

Recurrent copy number alterations in BRCA1-mutated ovarian tumors alter biological pathways.

Hum Mutat 2009 Dec;30(12):1693-702

Division of Gynecological Oncology, Department of Obstetrics and Gynecology, University Hospitals Leuven, Katholieke Universiteit Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.21135DOI Listing
December 2009

Does paclitaxel-carboplatin chemotherapy in a dose-dense regimen enhance survival of BRCA-related ovarian cancer patients?

Int J Gynecol Cancer 2009 Dec;19(9):1501-4

Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1111/IGC.0b013e3181bb703fDOI Listing
December 2009

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

Supervised classification of array CGH data with HMM-based feature selection.

Pac Symp Biocomput 2009 :468-79

Department of Electrical Engineering, Katholieke Universiteit Leuven, Leuven, Belgium.

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March 2009

Prophylactic mastectomy in familial breast carcinoma. What do the pathologic findings learn us?

Breast Cancer Res Treat 2008 Jan 13;107(1):79-86. Epub 2007 Apr 13.

Department of Obstetrics and Gynaecology, Division of Gynaecologic Oncology, Multidisciplinary Breast Centre, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1007/s10549-007-9525-8DOI Listing
January 2008

What's new in the neuro-cardio-facial-cutaneous syndromes?

Eur J Pediatr 2007 Nov 5;166(11):1091-8. Epub 2007 Jul 5.

Department of Human Genetics, Catholic University of Leuven, Herestraat 49, 3000, Leuven, Belgium.

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http://dx.doi.org/10.1007/s00431-007-0535-7DOI Listing
November 2007

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