Publications by authors named "Anna C Jansen"

50Publications

Recommendations for the treatment of epilepsy in adult and pediatric patients in Belgium: 2020 update.

Acta Neurol Belg 2020 Oct 13. Epub 2020 Oct 13.

Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s13760-020-01488-yDOI Listing
October 2020

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.

J Child Neurol 2020 Oct 4:883073820960314. Epub 2020 Oct 4.

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

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http://dx.doi.org/10.1177/0883073820960314DOI Listing
October 2020

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Oct;143(10):2929-2944

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
October 2020

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 2020

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

Nucleic Acids Res 2019 01;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

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

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

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

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

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

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

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

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

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

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

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