Delfien Syx

Delfien Syx

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Delfien Syx

Delfien Syx

Publications by authors named "Delfien Syx"

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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 2020 01 5;22(1):112-123. Epub 2019 Jul 5.

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

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http://dx.doi.org/10.1038/s41436-019-0599-6DOI Listing
January 2020

Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.

Matrix Biol 2019 Dec 17. Epub 2019 Dec 17.

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

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http://dx.doi.org/10.1016/j.matbio.2019.12.002DOI Listing
December 2019

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

Hum Mol Genet 2019 06;28(11):1801-1809

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

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http://dx.doi.org/10.1093/hmg/ddz017DOI Listing
June 2019

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.

Hum Mol Genet 2019 06;28(11):1853-1864

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

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http://dx.doi.org/10.1093/hmg/ddz024DOI Listing
June 2019

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Orphanet J Rare Dis 2019 06 13;14(1):138. Epub 2019 Jun 13.

Center for Medical Genetics, Ghent University and Ghent University Hospital, 0K5, Corneel Heymanslaan 10, B-9000, Ghent, Belgium.

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http://dx.doi.org/10.1186/s13023-019-1110-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567438PMC
June 2019

Peripheral Mechanisms Contributing to Osteoarthritis Pain.

Curr Rheumatol Rep 2018 02 26;20(2). Epub 2018 Feb 26.

Department of Internal Medicine, Division of Rheumatology, Rush University Medical Center, 1611 W. Harrison St, Suite 510, Chicago, IL, 60612, USA.

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http://dx.doi.org/10.1007/s11926-018-0716-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599517PMC
February 2018

Hypermobility, the Ehlers-Danlos syndromes and chronic pain.

Clin Exp Rheumatol 2017 Sep-Oct;35 Suppl 107(5):116-122. Epub 2017 Sep 28.

Centre for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.

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December 2017

RIN2 syndrome: Expanding the clinical phenotype.

Am J Med Genet A 2016 09 8;170(9):2408-15. Epub 2016 Jun 8.

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

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http://doi.wiley.com/10.1002/ajmg.a.37789
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http://dx.doi.org/10.1002/ajmg.a.37789DOI Listing
September 2016

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.

Dis Markers 2015 4;2015:828970. Epub 2015 Oct 4.

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

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http://dx.doi.org/10.1155/2015/828970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609397PMC
July 2016

Compound heterozygous mutations of the TNXB gene cause primary myopathy. Response.

Neuromuscul Disord 2014 Jan 6;24(1):89. Epub 2013 Nov 6.

Center for Medical Genetics, Ghent University Hospital, Belgium.

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http://dx.doi.org/10.1016/j.nmd.2013.10.008DOI Listing
January 2014

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Neuromuscul Disord 2013 Aug 12;23(8):664-9. Epub 2013 Jun 12.

Centre de référence des Maladies Neuromusculaires, Département de Neurologie, Centre Hospitalier Universitaire d'Angers, France.

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http://dx.doi.org/10.1016/j.nmd.2013.04.009DOI Listing
August 2013