Anna Jansen

Anna Jansen

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Anna Jansen

Publications by authors named "Anna Jansen"

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Speech and language in bilateral perisylvian polymicrogyria: a systematic review.

Dev Med Child Neurol 2019 Oct 25;61(10):1145-1152. Epub 2019 Jan 25.

Murdoch Children's Research Institute, Parkville, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/dmcn.14153DOI Listing
October 2019

Attending school after treatment for a brain tumor: Experiences of children and key figures.

J Health Psychol 2019 Sep 8;24(10):1436-1447. Epub 2017 Oct 8.

1 Mental Health and Wellbeing Research Group, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1177/1359105317733534DOI Listing
September 2019

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

Multinodular and vacuolating neuronal tumor of the cerebrum (MVNT): do not touch.

Acta Neurol Belg 2019 Jun 14. Epub 2019 Jun 14.

Department of Radiology, UZ Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium.

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http://dx.doi.org/10.1007/s13760-019-01157-9DOI Listing
June 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

Best use of the tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) checklist.

Dev Med Child Neurol 2019 02 31;61(2):112-113. Epub 2018 Oct 31.

Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.

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http://doi.wiley.com/10.1111/dmcn.14089
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http://dx.doi.org/10.1111/dmcn.14089DOI Listing
February 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 Jan;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

Fetal and neonatal neurogenetics.

Handb Clin Neurol 2019 ;162:105-132

Centre for Medical Genetics, Universitair Ziekenhuis Brussel, Brussel, Belgium.

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http://dx.doi.org/10.1016/B978-0-444-64029-1.00005-9DOI Listing
January 2019

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

Eur J Med Genet 2018 Dec 5;61(12):733-737. Epub 2018 Jun 5.

Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2018.06.001DOI Listing
December 2018

Eosinophil Counts in Mucosal Biopsies of the Ileum and Colon: Interobserver Variance Affects Diagnostic Accuracy.

Patholog Res Int 2018 4;2018:2638258. Epub 2018 Nov 4.

Department of Gastroenterology and Hepatology, University Medical Center Brandenburg, Brandenburg, Germany.

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http://dx.doi.org/10.1155/2018/2638258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241360PMC
November 2018

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Eur J Hum Genet 2018 08 30;26(8):1132-1142. Epub 2018 Apr 30.

Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1038/s41431-018-0146-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057922PMC
August 2018

Can clinical characteristics be criteria to perform chromosomal microarray analysis in children and adolescents with autism spectrum disorders?

Minerva Pediatr 2018 Jun 8;70(3):225-232. Epub 2016 Sep 8.

Center for Medical Genetics, Reproduction Genetics, and Regenerative Medicine, Free University of Brussels (VUB), Brussels University Hospital, Brussels, Belgium.

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http://dx.doi.org/10.23736/S0026-4946.16.04570-9DOI Listing
June 2018

An Amphipathic Helix Directs Cellular Membrane Curvature Sensing and Function of the BAR Domain Protein PICK1.

Cell Rep 2018 05;23(7):2056-2069

Molecular Neuropharmacology and Genetics Laboratory, Lundbeck Foundation Center for Biomembranes in Nanomedicine, Department of Neuroscience, Faculty of Health and Medical Sciences, The Panum Institute - Mærsk Tower, University of Copenhagen, 2200 Copenhagen N, Denmark. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183063
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http://dx.doi.org/10.1016/j.celrep.2018.04.074DOI Listing
May 2018

mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis.

Neurobiol Dis 2017 Dec 6;108:225-237. Epub 2017 Sep 6.

Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences, University of Leuven, Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.09.004DOI Listing
December 2017

EJCB - Molecular basis of protein fates in the secretory and endocytic pathways, and beyond.

Eur J Cell Biol 2017 08 15;96(5):369-371. Epub 2017 Jun 15.

Jacobs University Bremen gGmbH, Campus Ring 1, 28759 Bremen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejcb.2017.06.006DOI Listing
August 2017

The GPRC6A receptor displays constitutive internalization and sorting to the slow recycling pathway.

J Biol Chem 2017 04 9;292(17):6910-6926. Epub 2017 Mar 9.

From the Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark and

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http://dx.doi.org/10.1074/jbc.M116.762385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409461PMC
April 2017

Infants dying suddenly and unexpectedly share demographic features with infants who die with retinal and dural bleeding: a review of neural mechanisms.

Dev Med Child Neurol 2016 Dec 20;58(12):1223-1234. Epub 2016 Jul 20.

Paediatric Neurology Unit, Department of Paediatrics, UZ Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1111/dmcn.13202DOI Listing
December 2016

Primary maternal cytomegalovirus infections: accuracy of fetal ultrasound for predicting sequelae in offspring.

Am J Obstet Gynecol 2016 Nov 8;215(5):638.e1-638.e8. Epub 2016 Jun 8.

Department of Obstetrics and Prenatal Medicine, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ajog.2016.06.003DOI Listing
November 2016

Convert your favorite protein modeling program into a mutation predictor: "MODICT".

BMC Bioinformatics 2016 Oct 19;17(1):425. Epub 2016 Oct 19.

Center for Medical Genetics, Reproduction and Genetics, Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel (VUB), UZ Brussel, Laarbeeklaan 101, Brussel, 1090, Belgium.

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http://dx.doi.org/10.1186/s12859-016-1286-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070100PMC
October 2016

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.

Eur J Hum Genet 2016 Mar 3;24(3):400-7. Epub 2015 Jun 3.

Center for Medical Genetics, Reproduction and Genetics; Genetics and Regenerative Medicine, UZ Brussel, Vrije Universiteit Brussel (VUB), Brussels, Belgium.

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http://dx.doi.org/10.1038/ejhg.2015.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755372PMC
March 2016

Magnetic resonance measurement of muscle T2, fat-corrected T2 and fat fraction in the assessment of idiopathic inflammatory myopathies.

Rheumatology (Oxford) 2016 Mar 27;55(3):441-9. Epub 2015 Sep 27.

Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences and

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http://dx.doi.org/10.1093/rheumatology/kev344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757924PMC
March 2016

Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC.

Eur J Paediatr Neurol 2016 Mar 23;20(2):203-211. Epub 2015 Dec 23.

Department of Child Neurology, Medical University of Warsaw, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.12.005DOI Listing
March 2016

I-PV: a CIRCOS module for interactive protein sequence visualization.

Bioinformatics 2016 Feb 10;32(3):447-9. Epub 2015 Oct 10.

Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.

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http://bioinformatics.oxfordjournals.org/content/early/2015/
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http://bioinformatics.oxfordjournals.org/content/early/2015/
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http://bioinformatics.oxfordjournals.org/lookup/doi/10.1093/
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http://dx.doi.org/10.1093/bioinformatics/btv579DOI Listing
February 2016

The histopathology of polymicrogyria: a series of 71 brain autopsy studies.

Dev Med Child Neurol 2016 Jan 14;58(1):39-48. Epub 2015 Jul 14.

Department of Neuropathology, Oxford University John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1111/dmcn.12840DOI Listing
January 2016

Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist.

Pediatr Neurol 2015 Jan 16;52(1):16-24. Epub 2014 Oct 16.

Division of Child & Adolescent Psychiatry, Department of Psychiatry and Mental Health, University of Cape Town, Cape Town, South Africa. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.10.006DOI Listing
January 2015

Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist.

Pediatr Neurol 2015 Jan 16;52(1):25-35. Epub 2014 Oct 16.

Pediatric Neurology Unit, UZ Brussel, Department of Public Health, VUB, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427347PMC
January 2015

Careful clinical observation continues to improve understanding of the phenotype in individuals with tuberous sclerosis complex.

Authors:
Anna C Jansen

Dev Med Child Neurol 2014 Dec 9;56(12):1134-1135. Epub 2014 Jul 9.

Pediatric Neurology Unit - UZ Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1111/dmcn.12537DOI Listing
December 2014

Novel assessment tools to evaluate clinical and laboratory responses in a subset of patients enrolled in the Rituximab in Myositis trial.

Clin Exp Rheumatol 2014 Sep-Oct;32(5):689-96. Epub 2014 Jul 28.

Environmental Autoimmunity Group, Program of Clinical Research, NIEHS, NIH, Department of Health and Human Services (DHHS), Bethesda, MD, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644185PMC
December 2014

The BAR domain protein PICK1 controls vesicle number and size in adrenal chromaffin cells.

J Neurosci 2014 Aug;34(32):10688-700

Department of Neuroscience and Pharmacology, Faculty of Health and Medical Sciences and Lundbeck Foundation Center for Biomembranes in Nanomedicine, University of Copenhagen, 2200N Copenhagen, Denmark, and

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http://dx.doi.org/10.1523/JNEUROSCI.5132-13.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122802PMC
August 2014

Polymicrogyria: pathology, fetal origins and mechanisms.

Acta Neuropathol Commun 2014 Jul 22;2:80. Epub 2014 Jul 22.

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http://dx.doi.org/10.1186/s40478-014-0080-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149230PMC
July 2014

Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.

Eur J Paediatr Neurol 2014 May 6;18(3):420-6. Epub 2013 Dec 6.

Paediatric Neurology Unit, Department of Paediatrics, UZ Brussel, Brussels, Belgium; Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2013.11.010DOI Listing
May 2014

First line management of prolonged convulsive seizures in children and adults: good practice points.

Acta Neurol Belg 2013 Dec 10;113(4):375-80. Epub 2013 Sep 10.

Department of Paediatric Neurology, University Hospitals Leuven, 49 Herestraat, 3000, Leuven, Belgium,

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http://dx.doi.org/10.1007/s13760-013-0247-xDOI Listing
December 2013

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

Eur J Paediatr Neurol 2013 Nov 4;17(6):666-70. Epub 2013 Jun 4.

Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.ejpn.2013.05.002DOI Listing
November 2013

PICK1 deficiency impairs secretory vesicle biogenesis and leads to growth retardation and decreased glucose tolerance.

PLoS Biol 2013 23;11(4):e1001542. Epub 2013 Apr 23.

Laboratory for Molecular Pharmacology, Novo Nordisk Foundation Center for Basic Metabolic Research, The Faculty of Health Sciences, Panum Institute, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1371/journal.pbio.1001542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3635866PMC
October 2013

Uncommon cause of psychotic behavior in a 9-year-old girl: a case report.

Case Rep Med 2012 18;2012:358520. Epub 2012 Dec 18.

Paediatric Intensive Care Unit, Brussels University Hospital, Laarbeeklaan 101, 1090 Brussels, Belgium.

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http://downloads.hindawi.com/journals/crim/2012/358520.pdf
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http://www.hindawi.com/journals/crim/2012/358520/
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http://dx.doi.org/10.1155/2012/358520DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535882PMC
January 2013

Hearing thresholds in children with a congenital CMV infection: a prospective study.

Int J Pediatr Otorhinolaryngol 2012 May 2;76(5):712-7. Epub 2012 Mar 2.

Department of Otolaryngology - Head and Neck Surgery, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876120011
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http://dx.doi.org/10.1016/j.ijporl.2012.02.026DOI Listing
May 2012

Exploring the short-term impact of DNA-testing in breast cancer patients: the counselees' perception matters, but the actual BRCA1/2 result does not.

Patient Educ Couns 2012 Feb 27;86(2):239-51. Epub 2011 Dec 27.

Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.pec.2011.04.017DOI Listing
February 2012

Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result.

Psychooncology 2012 Jan 11;21(1):29-42. Epub 2010 Nov 11.

Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/pon.1864DOI Listing
January 2012

Family communication matters: the impact of telling relatives about unclassified variants and uninformative DNA-test results.

Genet Med 2011 Apr;13(4):333-41

Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e318204cfed
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http://dx.doi.org/10.1097/GIM.0b013e318204cfedDOI Listing
April 2011

Abnormal development of the human cerebral cortex.

J Anat 2010 Oct;217(4):312-23

Department Neuropathology, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1111/j.1469-7580.2010.01288.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992410PMC
October 2010

Cognitive deficits and developmental language disorders in patients with malformations of cortical development.

Authors:
Anna C Jansen

Epilepsia 2010 Feb;51 Suppl 1:70-1

Department of Pediatric Neurology, UZ Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02452.xDOI Listing
February 2010

PICK1 expression in the Drosophila central nervous system primarily occurs in the neuroendocrine system.

J Comp Neurol 2009 Nov;517(3):313-32

Department of Neuroscience and Pharmacology, University of Copenhagen, DK-2200, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/cne.22155DOI Listing
November 2009

The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life.

Psychooncology 2008 Aug;17(8):822-30

Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/pon.1311DOI Listing
August 2008

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

Am J Med Genet A 2007 Feb;143(4):364-9

Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.31572DOI Listing
February 2007