Paul Coucke

Paul Coucke

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Paul Coucke

Paul Coucke

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Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions.

Sci Rep 2019 Dec 2;9(1):18037. Epub 2019 Dec 2.

Laboratory Bacteriology Research, Department of Diagnostic Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, 9000, Belgium.

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http://dx.doi.org/10.1038/s41598-019-54608-xDOI Listing
December 2019

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

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

Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?

Antioxid Redox Signal 2019 Nov 14. Epub 2019 Nov 14.

Institute of Clinical Experimental Research, Molecular Biology, and Pathobiochemistry, Semmelweis University, Budapest, Hungary.

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http://dx.doi.org/10.1089/ars.2019.7843DOI Listing
November 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

BATCH-GE: Analysis of NGS Data for Genome Editing Assessment.

Methods Mol Biol 2018 ;1865:83-90

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

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http://link.springer.com/10.1007/978-1-4939-8784-9_6
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http://dx.doi.org/10.1007/978-1-4939-8784-9_6DOI Listing
May 2019

Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series.

Eur J Oral Sci 2018 02 8;126(1):24-32. Epub 2017 Nov 8.

Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.

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http://dx.doi.org/10.1111/eos.12391DOI Listing
February 2018

Future perspectives of genome-scale sequencing.

Acta Clin Belg 2018 Feb;73(1):7-10

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

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http://dx.doi.org/10.1080/17843286.2017.1413809DOI Listing
February 2018

Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm.

Sci Rep 2017 11 28;7(1):16518. Epub 2017 Nov 28.

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

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http://dx.doi.org/10.1038/s41598-017-16725-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705637PMC
November 2017

A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.

Clin Dysmorphol 2017 Jul;26(3):142-147

aDepartment of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey bCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1097/MCD.0000000000000179DOI Listing
July 2017

A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.

Eur J Med Genet 2017 May 14;60(5):275-278. Epub 2017 Mar 14.

Department of Clinical Genetics, Aarhus University Hospital, Denmark; Centre for Rare Disorders, Department of Paediatrics, Aarhus University Hospital, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.03.005DOI Listing
May 2017

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

Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis.

Arch Oral Biol 2016 Nov 28;71:110-116. Epub 2016 Jul 28.

Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Ibn Aljazzar street, 4031, Sousse, Tunisia. Electronic address:

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http://dx.doi.org/10.1016/j.archoralbio.2016.07.009DOI Listing
November 2016

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.

Curr Pharm Des 2015 ;21(28):4061-75

Department of Cardiology and Medical Genetics, University Hospital Ghent, Belgium, De Pintelaan 185, 9000 Ghent, Belgium.

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http://dx.doi.org/10.2174/1381612821666150826093152DOI Listing
July 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

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:

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

An Exploratory Case-Control Study on the Impact of IL-1 Gene Polymorphisms on Early Implant Failure.

Clin Implant Dent Relat Res 2016 Apr 26;18(2):234-40. Epub 2014 Jul 26.

Periodontology and Oral Implantology, Dental School, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1111/cid.12237DOI Listing
April 2016

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:

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

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.

Neurology 2015 Apr 3;84(17):1760-6. Epub 2015 Apr 3.

From the Department of Neurology (P.S., B.D.) and the Center for Medical Genetics (T.V.D., W.S., A.W., A.D.P., P.J.C., B.D.), Ghent University Hospital, Belgium; and Inserm U1172, Centre de Recherches J-P Aubert (B.S.), and Inserm U1167, Institut Pasteur de Lille (B.D.), Université de Lille, France.

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http://www.neurology.org/content/84/17/1760.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000152
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http://dx.doi.org/10.1212/WNL.0000000000001521DOI Listing
April 2015

The soft tissue immunologic response to hydroxyapatite-coated transmucosal implant surfaces: a study in humans.

Clin Implant Dent Relat Res 2015 Jan 5;17 Suppl 1:e65-74. Epub 2013 Aug 5.

Department of Periodontology & Oral Implantology, Dental School, Faculty of Medicine and Health Sciences, University of Ghent, Ghent, Belgium.

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http://dx.doi.org/10.1111/cid.12128DOI Listing
January 2015

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

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:

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

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Mol Genet Metab 2014 Aug 21;112(4):310-6. Epub 2014 May 21.

Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max-Planck-Institut fuer Molekulare Genetik, FG Development & Disease, Ihnestr. 63-73, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.05.003DOI Listing
August 2014

Illumina sequencing of 15 deafness genes using fragmented amplicons.

BMC Res Notes 2014 Aug 9;7:509. Epub 2014 Aug 9.

Laboratory for Pharmaceutical Biotechnology, Ghent University, Ottergemsesteenweg 460, Ghent 9000, Belgium.

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http://dx.doi.org/10.1186/1756-0500-7-509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266979PMC
August 2014

Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.

J Neuroophthalmol 2014 Jun;34(2):137-43

Department of Pediatric Ophthalmology (FMJR, FMM), HUDERF, ULB, Brussels, Belgium; Departments of Neuropediatrics (FF) and Ophthalmology (PD, JDZ), Ghent University, Belgium; Department of Neuropediatrics (PVB), Erasme, ULB, Brussels, Belgium; Department of Neuroradiology (GR), Foch Hospital, Paris, France; Department of Ophthalmology (FD), Erasme, ULB, Brussels, Belgium; Department of Medical Genetics (PJC), Ghent University, Ghent, Belgium; and Vista Alpina (FMJR), Sierre, Switzerland.

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http://dx.doi.org/10.1097/WNO.0000000000000090DOI Listing
June 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

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.

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

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.

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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.

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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.

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

Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears.

Audiol Neurootol 2012 7;17(3):198-206. Epub 2012 Mar 7.

Department of Otorhinolaryngology, Ghent University Hospital, Belgium. Freya.Swinnen @ UGent.be

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https://www.karger.com/Article/FullText/336211
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http://dx.doi.org/10.1159/000336211DOI Listing
August 2012

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.

Am J Med Genet A 2012 Aug 11;158A(8):1948-52. Epub 2012 Apr 11.

Medical Genetics Department, Hôpital Erasme-ULB, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.35301DOI Listing
August 2012

Audiologic phenotype of osteogenesis imperfecta: use in clinical differentiation.

Otol Neurotol 2012 Feb;33(2):115-22

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

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http://dx.doi.org/10.1097/MAO.0b013e31823e28e9DOI Listing
February 2012

Association between bone mineral density and hearing loss in osteogenesis imperfecta.

Laryngoscope 2012 Feb 17;122(2):401-8. Epub 2012 Jan 17.

Department of Otorhinolaryngology, Unit for Osteoporosis, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/lary.22408DOI Listing
February 2012

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.

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http://doi.wiley.com/10.1002/ajmg.a.34264
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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.

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

Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline.

BMC Bioinformatics 2010 May 20;11:269. Epub 2010 May 20.

Laboratory for Bioinformatics and Computational Genomics, Department of Molecular Biotechnology, Ghent University, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1186/1471-2105-11-269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2880033PMC
May 2010