Olivier Vanakker

Olivier Vanakker

UNVERIFIED PROFILE

Are you Olivier Vanakker?   Register this Author

Register author
Olivier Vanakker

Olivier Vanakker

Publications by authors named "Olivier Vanakker"

Are you Olivier Vanakker?   Register this Author

63Publications

2063Reads

16Profile Views

Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review.

Acta Clin Belg 2019 Dec 3;74(6):460-464. Epub 2018 Dec 3.

Department of Pediatrics, Division of Pediatric Nephrology and Rheumatology, Ghent University Hospital , Ghent , Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17843286.2018.1551743DOI Listing
December 2019

Morpholino-Mediated Gene Knockdown in Zebrafish: It Is All About Dosage and Validation.

J Invest Dermatol 2019 Jul 29;139(7):1599-1600. Epub 2019 Jan 29.

Center for Medical Genetics, Ghent University Hospital, Belgium; Department of Biomolecular Medicine, Ghent University, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2019.01.017DOI Listing
July 2019

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.

Genet Med 2019 Jul 5. Epub 2019 Jul 5.

Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0599-6DOI Listing
July 2019

The Role of Vitamin K and Its Related Compounds in Mendelian and Acquired Ectopic Mineralization Disorders.

Int J Mol Sci 2019 Apr 30;20(9). Epub 2019 Apr 30.

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms20092142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540172PMC
April 2019

A likely pathogenic variant in the gene presenting with progressive myoclonus.

Ann Clin Transl Neurol 2019 03 1;6(3):605-609. Epub 2019 Feb 1.

Center for Medical Genetics Ghent University Hospital Ghent Belgium.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/acn3.702
Publisher Site
http://dx.doi.org/10.1002/acn3.702DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414494PMC
March 2019

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

Int J Mol Sci 2017 Jan 25;18(2). Epub 2017 Jan 25.

Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms18020240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343777PMC
January 2017

'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms.

J Neurol 2016 Nov 13;263(11):2327-2329. Epub 2016 Sep 13.

Center for Human Genetic, Cliniques Universitaires St-Luc, Université Catholique de Louvain, 10 Av. Hippocrate, 1200, Brussels, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-016-8280-3DOI Listing
November 2016

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

Eur J Med Genet 2016 Oct 12;59(10):502-6. Epub 2016 Sep 12.

Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2016.09.008DOI Listing
October 2016

Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

Ann Otol Rhinol Laryngol 2016 Sep 30;125(9):734-45. Epub 2016 May 30.

Department of Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0003489416650687DOI Listing
September 2016

The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders.

Biomed Res Int 2015 18;2015:648569. Epub 2015 Aug 18.

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2015/648569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4555454PMC
June 2016

The Genetics of Soft Connective Tissue Disorders.

Annu Rev Genomics Hum Genet 2015 18;16:229-55. Epub 2015 May 18.

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; email:

View Article

Download full-text PDF

Source
http://www.annualreviews.org/doi/10.1146/annurev-genom-09031
Publisher Site
http://dx.doi.org/10.1146/annurev-genom-090314-050039DOI Listing
May 2016

From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders.

World J Clin Cases 2015 Jul;3(7):556-74

Eva YG De Vilder, Olivier M Vanakker, Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, East Flanders, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.12998/wjcc.v3.i7.556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517332PMC
July 2015

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.

J Invest Dermatol 2015 Apr 29;135(4):992-998. Epub 2014 Sep 29.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jid.2014.421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378258PMC
April 2015

Clinical zinc deficiency as early presentation of Wilson disease.

J Pediatr Gastroenterol Nutr 2015 Apr;60(4):457-9

*Pediatric Gastroenterology and Hepatology Department †Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium ‡CHU Nantes, Service de Génétique Médicale, Nantes, Cedex 1 §Laboratoire LABCATAL, Montrouge, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000000628DOI Listing
April 2015

Acral acquired cutis laxa associated with IgA multiple myeloma, joint hyperlaxity and urticarial neutrophilic dermatosis.

Acta Derm Venereol 2014 Nov;94(6):743-4

Department of Dermatology, University of Montpellier I, Hôpital Saint-Eloi, CHU de Montpellier, 80, avenue Augustin Fliche, FR-34295 Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-1846DOI Listing
November 2014

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

Mol Genet Metab 2014 Nov 8;113(3):230-5. Epub 2014 Sep 8.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192140027
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2014.09.001DOI Listing
November 2014

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

J Invest Dermatol 2014 Sep 16;134(9):2331-2338. Epub 2014 Apr 16.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0022202X153696
Publisher Site
http://dx.doi.org/10.1038/jid.2014.191DOI Listing
September 2014

Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication.

Eur J Paediatr Neurol 2014 May 15;18(3):439-43. Epub 2014 Jan 15.

Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2014.01.001DOI Listing
May 2014

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum.

Orphanet J Rare Dis 2014 Apr 29;9:66. Epub 2014 Apr 29.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-9-66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022264PMC
April 2014

Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues.

Scientifica (Cairo) 2012 25;2012:598262. Epub 2012 Jul 25.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium ; Department of Genetic Engineering and Biotechnology, Shahjalal University of Science and Technology, Sylhet 3114, Bangladesh.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.6064/2012/598262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820553PMC
November 2013

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.

Arterioscler Thromb Vasc Biol 2013 Nov 22;33(11):2646-52. Epub 2013 Aug 22.

From the Center for Medical Genetics (L.C., O.M.V., B.P.L., A.D.P., J.D.B.), Department of Cardiology (T.D.B., J.D.B.), Department of Ophthalmology (B.P.L., J.D.Z.), and Department of Internal Medicine (D.V.), Ghent University Hospital, Ghent, Belgium; and Institute of Biomedical Technology, Ghent University, Ghent, Belgium (B.T., P.S.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/ATVBAHA.113.301901DOI Listing
November 2013

Coordinated orphan disease research: yes, we can!

Front Genet 2013 1;4:207. Epub 2013 Nov 1.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2013.00207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814620PMC
November 2013

The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters?

Front Genet 2013 16;4:203. Epub 2013 Oct 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2013.00203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3797522PMC
October 2013

Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.

Am J Med Genet A 2013 Sep 5;161A(9):2352-7. Epub 2013 Aug 5.

Department of Neurosurgery, Ghent University Hospital, Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36077DOI Listing
September 2013

Zebrafish models for ectopic mineralization disorders: practical issues from morpholino design to post-injection observations.

Front Genet 2013 8;4:74. Epub 2013 May 8.

Center for Medical Genetics, Ghent University Hospital Ghent, Belgium ; Department of Genetic Engineering and Biotechnology, Shahjalal University of Science and Technology Sylhet, Bangladesh.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2013.00074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669896PMC
June 2013

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Orphanet J Rare Dis 2013 Feb 25;8:36. Epub 2013 Feb 25.

Service de Dermatologie - Centre de référence national des Maladies Génétiques à Expression Cutanée MAGEC, INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-8-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599008PMC
February 2013

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

Am J Med Genet A 2011 Nov 30;155A(11):2855-9. Epub 2011 Sep 30.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.34264
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34264DOI Listing
November 2011

Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage.

J Pediatr 2011 Aug 24;159(2):347-9. Epub 2011 Jun 24.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2011.04.044DOI Listing
August 2011

Acquired pseudoxanthoma elasticum presenting after liver transplantation.

J Am Acad Dermatol 2011 May 12;64(5):873-8. Epub 2011 Mar 12.

Department of Dermatology, Rhode Island Hospital and Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2010.03.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078966PMC
May 2011

Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis.

Stroke Res Treat 2011 Jan 20;2011:712903. Epub 2011 Jan 20.

Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4061/2011/712903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3034976PMC
January 2011

Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum.

Br J Ophthalmol 2010 Apr 1;94(4):479-86. Epub 2009 Sep 1.

Department of Ophthalmology & Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium.

View Article

Download full-text PDF

Source
http://bjo.bmj.com/cgi/doi/10.1136/bjo.2009.162644
Publisher Site
http://dx.doi.org/10.1136/bjo.2009.162644DOI Listing
April 2010

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Invest Ophthalmol Vis Sci 2007 Sep;48(9):4250-6

Laboratoire de Physiopathologie Cellulaire Moléculaire et de la Rétine, Institut National de la Santé et de la Recherche Médicale, Université Pierre et Marie Curie, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.05-1604DOI Listing
September 2007

Left ventricular outflow obstruction in rhabdomyoma of infancy: meta-analysis of the literature.

J Pediatr 2003 Aug;143(2):258-63

Departments of Pediatrics and Cardiac Surgery, University and University Hospital of Ghent, De Pintelaan 185, B-9000 Ghent, Belgium.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S002234760300250
Publisher Site
http://dx.doi.org/10.1067/S0022-3476(03)00250-6DOI Listing
August 2003

Use of an event recorder in the decision for pacemaker implantation in a child with syncope.

Eur J Pediatr 2002 May 20;161(5):267-9. Epub 2002 Mar 20.

Division of Paediatric Cardiology, University Hospital Ghent, De Pintelaan 185, 9000 Gent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-002-0928-6DOI Listing
May 2002