Fransiska Malfait

Fransiska Malfait

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Fransiska Malfait

Publications by authors named "Fransiska Malfait"

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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 2019 Jul 5. 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
July 2019

Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome".

Disabil Rehabil 2019 Jul 9:1-10. Epub 2019 Jul 9.

a Occupational Therapy Program, Department of Rehabilitation Sciences, Faculty of Medicine and Health Sciences , Ghent University , Ghent , Belgium.

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http://dx.doi.org/10.1080/09638288.2019.1636316DOI Listing
July 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

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

Am J Med Genet A 2019 Jun 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

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

Vascular aspects of the Ehlers-Danlos Syndromes.

Matrix Biol 2018 10 27;71-72:380-395. Epub 2018 Apr 27.

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

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http://dx.doi.org/10.1016/j.matbio.2018.04.013DOI Listing
October 2018

Updating the Evidence on Functional Capacity Evaluation Methods: A Systematic Review.

J Occup Rehabil 2018 09;28(3):418-428

Occupational Therapy Program, Department of Rehabilitation Sciences and Physiotherapy, Faculty of Medicine and Health Sciences, Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.

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http://link.springer.com/10.1007/s10926-017-9734-x
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http://dx.doi.org/10.1007/s10926-017-9734-xDOI Listing
September 2018

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.

Genet Med 2018 06 5;20(6):562-573. Epub 2017 Oct 5.

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

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http://dx.doi.org/10.1038/gim.2017.138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993673PMC
June 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

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

A framework for the classification of joint hypermobility and related conditions.

Am J Med Genet C Semin Med Genet 2017 03 1;175(1):148-157. Epub 2017 Feb 1.

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http://dx.doi.org/10.1002/ajmg.c.31539DOI Listing
March 2017

Ehlers-Danlos syndrome, classical type.

Am J Med Genet C Semin Med Genet 2017 03 13;175(1):27-39. Epub 2017 Feb 13.

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http://dx.doi.org/10.1002/ajmg.c.31548DOI Listing
March 2017

The international consortium on the Ehlers-Danlos syndromes.

Am J Med Genet C Semin Med Genet 2017 03;175(1):5-7

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http://dx.doi.org/10.1002/ajmg.c.31547DOI Listing
March 2017

The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study.

Res Dev Disabil 2017 Jan 5;60:135-144. Epub 2016 Dec 5.

Faculty of Medicine and Health Sciences, Department of Rehabilitation Sciences and Physiotherapy, Occupational Therapy Program. Ghent University, De Pintelaan 185, 9000 Ghent Belgium.

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http://dx.doi.org/10.1016/j.ridd.2016.11.017DOI Listing
January 2017

Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.

Eur Arch Otorhinolaryngol 2016 Oct 19;273(10):3025-34. Epub 2016 Jan 19.

Department of Otorhinolaryngology, Ghent University Hospital, Ghent University, De Pintelaan 185 (1P1), 9000, Ghent, Belgium.

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http://dx.doi.org/10.1007/s00405-016-3896-6DOI Listing
October 2016

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

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome.

Rheumatology (Oxford) 2016 08 18;55(8):1412-20. Epub 2016 Apr 18.

Centre for Medical Genetics, Ghent University Hospital.

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http://dx.doi.org/10.1093/rheumatology/kew032DOI Listing
August 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

Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance.

J Craniomaxillofac Surg 2016 Jul 15;44(7):848-53. Epub 2016 Apr 15.

Department of Orthodontics, Ghent University/Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.jcms.2016.04.010DOI Listing
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

Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia.

Clin Rheumatol 2015 Jun 4;34(6):1121-9. Epub 2014 Feb 4.

Department of Rehabilitation Sciences and Physiotherapy, Ghent University-Artevelde University College, De Pintelaan 185, 3B3, 9000, Ghent, Belgium,

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http://dx.doi.org/10.1007/s10067-014-2499-0DOI Listing
June 2015

Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls.

Semin Arthritis Rheum 2014 Dec 14;44(3):353-61. Epub 2014 May 14.

Department of Family Medicine and Primary Health Care, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.semarthrit.2014.05.013DOI Listing
December 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

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

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.

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

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome.

Semin Arthritis Rheum 2014 Aug 30;44(1):93-100. Epub 2013 Dec 30.

Department of Rehabilitation Sciences and Physiotherapy, Ghent University, Artevelde University College, De Pintelaan 185, 1B3, 9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.semarthrit.2013.12.006DOI Listing
August 2014

Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene.

Eur Radiol 2014 Aug 17;24(8):1742-8. Epub 2014 May 17.

Department of Radiology, Amrita Institute of Medical Sciences, AIMS (PO), Ernakulam, India, 682041,

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http://dx.doi.org/10.1007/s00330-014-3205-yDOI Listing
August 2014

The Ehlers-Danlos syndrome.

Adv Exp Med Biol 2014 ;802:129-43

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

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http://dx.doi.org/10.1007/978-94-007-7893-1_9DOI Listing
May 2014

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

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

Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos syndrome.

Res Dev Disabil 2013 Mar 2;34(3):873-81. Epub 2013 Jan 2.

Department of Rehabilitation Sciences and Physiotherapy, Ghent University, Artevelde University College, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.ridd.2012.11.018DOI Listing
March 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

Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome.

Arthritis Care Res (Hoboken) 2012 Oct;64(10):1584-92

Ghent University and Artevelde University College, Ghent, Belgium.

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http://dx.doi.org/10.1002/acr.21726DOI Listing
October 2012

Hearing impairment in Stickler syndrome: a systematic review.

Orphanet J Rare Dis 2012 Oct 30;7:84. Epub 2012 Oct 30.

Department of Otorhinolaryngology, 1P1, Ghent University / Ghent University Hospital, De Pintelaan 185, Ghent 9000, Belgium.

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http://dx.doi.org/10.1186/1750-1172-7-84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551705PMC
October 2012

Muscle-tendon tissue properties in the hypermobility type of Ehlers-Danlos syndrome.

Arthritis Care Res (Hoboken) 2012 May;64(5):766-72

Department of Rehabilitation Sciences andPhysiotherapy, Ghent University and Artevelde University College, De Pintelaan 185, Ghent, Belgium.

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http://dx.doi.org/10.1002/acr.21592DOI Listing
May 2012

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

Balance, gait, falls, and fear of falling in women with the hypermobility type of Ehlers-Danlos syndrome.

Arthritis Care Res (Hoboken) 2011 Oct;63(10):1432-9

Department of Rehabilitation Sciences and Physiotherapy, Ghent University and Artevelde University College, Ghent, Belgium.

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http://dx.doi.org/10.1002/acr.20557DOI Listing
October 2011

Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome.

Arch Phys Med Rehabil 2011 Jul 2;92(7):1106-12. Epub 2011 Jun 2.

Department of Rehabilitation Sciences and Physiotherapy, Ghent University, Artevelde University College, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.apmr.2011.01.016DOI Listing
July 2011

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

Genet Med 2010 Oct;12(10):597-605

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

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http://dx.doi.org/10.1097/GIM.0b013e3181eed412DOI Listing
October 2010

Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type.

Disabil Rehabil 2010 ;32(16):1339-45

Department of Rehabilitation Sciences and Physiotherapy, Artevelde University College, Ghent University, and Centre of Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://www.tandfonline.com/doi/full/10.3109/0963828090351473
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http://dx.doi.org/10.3109/09638280903514739DOI Listing
September 2010

Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type).

Clin Rheumatol 2010 Mar 25;29(3):289-95. Epub 2009 Nov 25.

Department of Rehabilitation Sciences and Physiotherapy, Artevelde University College, Ghent University, De Pintelaan 185, 3B3, 9000, Ghent, Belgium.

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http://link.springer.com/10.1007/s10067-009-1320-y
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http://dx.doi.org/10.1007/s10067-009-1320-yDOI Listing
March 2010

A review of the ADAMTS family, pharmaceutical targets of the future.

Curr Pharm Des 2009 ;15(20):2359-74

Pfizer Global Research and Development, St. Louis, MO 63017, USA.

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http://dx.doi.org/10.2174/138161209788682433DOI Listing
October 2009

Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment.

Blood Rev 2009 Sep 9;23(5):191-7. Epub 2009 Jul 9.

Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, Ghent B-9000, Belgium.

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http://dx.doi.org/10.1016/j.blre.2009.06.001DOI Listing
September 2009

Ehlers-Danlos syndromes and Marfan syndrome.

Best Pract Res Clin Rheumatol 2008 Mar;22(1):165-89

Ghent University Hospital, Centre for Medical Genetics, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://dx.doi.org/10.1016/j.berh.2007.12.005DOI Listing
March 2008

Molecular genetics in classic Ehlers-Danlos syndrome.

Am J Med Genet C Semin Med Genet 2005 Nov;139C(1):17-23

Centre for Medical Genetics, Ghent University, Belgium.

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http://dx.doi.org/10.1002/ajmg.c.30070DOI Listing
November 2005

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.

Br J Haematol 2004 Dec;127(5):491-500

Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium.

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http://doi.wiley.com/10.1111/j.1365-2141.2004.05220.x
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http://dx.doi.org/10.1111/j.1365-2141.2004.05220.xDOI Listing
December 2004