Publications by authors named "Sofie Symoens"

60Publications

Cutis laxa: a comprehensive overview of clinical characteristics and pathophysiology.

Clin Genet 2020 Oct 14. Epub 2020 Oct 14.

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

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http://dx.doi.org/10.1111/cge.13865DOI Listing
October 2020

New insights on the clinical variability of FKBP10 mutations.

Eur J Med Genet 2020 Sep 9;63(9):103980. Epub 2020 Jun 9.

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

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http://dx.doi.org/10.1016/j.ejmg.2020.103980DOI Listing
September 2020

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

Matrix Biol 2020 07 17;89:59-75. 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
July 2020

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.

Matrix Biol 2020 06 11;88:1-18. Epub 2019 Nov 11.

Orthopaedic Research Laboratories, Leni & Peter W. May Department of Orthopaedics, Icahn School of Medicine at Mt. Sinai, New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2019.11.001DOI Listing
June 2020

Vascular Ehlers-Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations.

Kardiol Pol 2019 Nov 1;77(11):1070-1073. Epub 2019 Oct 1.

Department of Cardiac Surgery, Anesthesiology and Experimental Cardiology, Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland

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http://dx.doi.org/10.33963/KP.15005DOI Listing
November 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 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

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

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in .

Neurol Genet 2019 Apr 1;5(2):e321. Epub 2019 Apr 1.

Neurogenetics Group (W.D.R., P.D.J., J.B.), University of Antwerp; the Laboratory of Neuromuscular Pathology (W.D.R., P.D.J., J.B.), Institute Born- Bunge, University of Antwerp; the Neuromuscular Reference Centre (W.D.R., P.D.J., J.B.), Department of Neurology, Antwerp University Hospital, Belgium; Sorbonne Université (I.N., M.B., R.B.Y., G.B.), INSERM U974, Center of Research in Myology, Institute of Myology, G.H. Pitié-Salpêtrière Paris, France; Histology and Cellular Imaging (B.A.), Neuromics Support Facility, VIB-UAntwerp Center for Molecular Neurology, University of Antwerp; Laboratory for Neuropathology (B.D.P., J.D.B.), Division of Neurology, Ghent University Hospital, Belgium; AP-HP, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-deFrance (R.B.Y., B.E.), G.H. Pitié-Salpêtrière, Bioinformatics Unit (C.M.), Necker Hospital, AP-HP, and University Paris Descartes, ; Centre National de Recherche en Génomique Humaine (CNRGH) (A.B., J.F.D.), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry; Laboratoire de Neuropathologie (T.M.), G.H. Pitié-Salpêtrière, Paris, France; Center for Medical Genetics (S.S.), Ghent University Hospital, Belgium; Developmental Dynamics, Imperial Centre for Experimental and Translational Medicine (R.S., T.B.), Imperial College London; John Walton Muscular Dystrophy Research Centre (K.J., A.T., V.S.), MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501641PMC
April 2019

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.

Am J Med Genet A 2019 06 21;179(6):908-914. Epub 2019 Mar 21.

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

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61119
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http://dx.doi.org/10.1002/ajmg.a.61119DOI 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

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

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

Am J Med Genet A 2017 Apr 6;173(4):1047-1050. Epub 2017 Mar 6.

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

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http://dx.doi.org/10.1002/ajmg.a.38135DOI Listing
April 2017

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

Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure.

Hum Mutat 2014 Nov 18;35(11):1330-41. Epub 2014 Oct 18.

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

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http://dx.doi.org/10.1002/humu.22677DOI Listing
November 2014

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients.

FASEB J 2014 Nov 13;28(11):4668-76. Epub 2014 Aug 13.

Institute of Sports Medicine, Department of Orthopaedic Surgery, and Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark;

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http://www.fasebj.org/doi/10.1096/fj.14-249656
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http://dx.doi.org/10.1096/fj.14-249656DOI Listing
November 2014

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Eur J Med Genet 2014 Apr 6;57(5):230-4. Epub 2014 Mar 6.

Department of Medical Genetics, CHU and University of Liège, Liège, Belgium; Pediatric Department, Clinique de l'Espérance, Liège, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.012DOI Listing
April 2014

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

Bonekey Rep 2013 4;2:456. Epub 2013 Dec 4.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia ; Department of Endocrinology, Royal Brisbane and Women's Hospital , Herston, Queensland, Australia.

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http://pubmedcentralcanada.ca/pmcc/articles/PMC3909233/pdf/b
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http://www.nature.com/doifinder/10.1038/bonekey.2013.190
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http://dx.doi.org/10.1038/bonekey.2013.190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909233PMC
February 2014

Clinical utility gene card for: osteogenesis imperfecta.

Eur J Hum Genet 2013 Jun 26;21(6). Epub 2012 Sep 26.

Department of Clinical Genetics, Center for Connective Tissue Disorders, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658202PMC
June 2013

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Eur J Hum Genet 2012 Jan 10;20(1):11-9. Epub 2011 Aug 10.

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234509PMC
January 2012

A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations.

J Pediatr Surg 2006 Aug;41(8):e27-30

Department of Pediatric Surgery, Gazi University Faculty of Medicine, Gazi Universitesi Tip Fakultesi Cocuk Cerrahisi A.D. 06500 Emek Ankara, Turkey.

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http://dx.doi.org/10.1016/j.jpedsurg.2006.04.009DOI Listing
August 2006