Publications by authors named "Fleur S van Dijk"

34Publications

Fatigue in adults with Osteogenesis Imperfecta.

BMC Musculoskelet Disord 2020 Jan 3;21(1). Epub 2020 Jan 3.

Expert Center for adults with Osteogenesis Imperfecta, Isala Hospital, Zwolle, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12891-019-3000-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942329PMC
January 2020

Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome.

Am J Med Genet A 2020 03 12;182(3):553-556. Epub 2019 Dec 12.

Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61449DOI Listing
March 2020

A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.

Clin Dysmorphol 2020 Jan;29(1):69-72

Ehlers-Danlos Syndrome National Diagnostic Service London, North West Thames Regional Genetic Service, North West Health Care University NHS Trust, Harrow, Middlesex.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000304DOI Listing
January 2020

Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals.

Br J Haematol 2019 11 14;187(4):509-517. Epub 2019 Jul 14.

Expert Centre for adults with Osteogenesis Imperfecta, Isala Hospital, Zwolle, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjh.16097DOI Listing
November 2019

Radiotherapy Late Effects and Osteogenesis Imperfecta: Dos and Don'ts in Clinical Practice.

Case Rep Oncol 2019 Jan-Apr;12(1):322-331. Epub 2019 Apr 17.

Department of Radiotherapy, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000499903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514481PMC
April 2019

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

Eur J Med Genet 2017 Oct 27;60(10):536-540. Epub 2017 Jul 27.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands; Department of Medical Genetics, St George's University of London, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.07.011DOI Listing
October 2017

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Hum Mutat 2015 Dec 10;36(12):1145-9. Epub 2015 Sep 10.

Department of Clinical Genetics, Center for Connective Tissue Research, VU University Medical Center, Amsterdam, 1007, MB, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22854DOI Listing
December 2015

Genetics of Osteoporosis in Children.

Authors:
Fleur S van Dijk

Endocr Dev 2015 12;28:196-209. Epub 2015 Jun 12.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, and Expert Center for Adults with OI, Department of Orthopedic Surgery, Isala, Zwolle, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000381046DOI Listing
November 2016

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome.

Circ Cardiovasc Genet 2015 Apr 22;8(2):383-8. Epub 2015 Jan 22.

From the Departments of Cardiology (R.F., A.W.d.H., M.G., B.J.M.M.), Radiology (M.G.), Clinical Epidemiology and Biostatistics (A.H.Z.), and Medical Biochemistry (V.d.W.), Academic Medical Center Amsterdam, Amsterdam; Interuniversity Cardiology Institute of the Netherlands, Utrecht (R.F., A.W.d.H., M.G., B.J.M.M.); Departments of Pathology (T.R.) and Clinical Genetics (D.M., A.M., F.S.v.D., H.E.M.-H., G.P.), VU University Medical Center, Amsterdam; Department of Cardiology, Radboud University Nijmegen Medical Center, Nijmegen (J.T.); Department of Cardiology, Leiden University Medical Center, Leiden (A.J.S.); and Department of Cardiology, University Medical Center Groningen, Groningen, the Netherlands (M.P.v.d.B.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.114.000950DOI Listing
April 2015

Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome.

JAMA Dermatol 2015 Jun;151(6):675-7

Department of Pediatrics, Academic Medical Center (AMC) University Hospital, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://archderm.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamadermatol.2014.4900DOI Listing
June 2015

[A girl with Angelman syndrome].

Ned Tijdschr Geneeskd 2014 ;158:A8092

AMC, afd. Kindergeneeskunde, Amsterdam.

View Article

Download full-text PDF

Source
June 2015

Pectus excavatum and carinatum.

Eur J Med Genet 2014 Aug 10;57(8):414-7. Epub 2014 May 10.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.04.017DOI Listing
August 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.

View Article

Download full-text PDF

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

[Osteogenesis imperfecta: clinical and genetic heterogeneity].

Ned Tijdschr Geneeskd 2012 ;156(21):A4585

VU medisch centrum, afd. Klinische Genetica, Amsterdam.

View Article

Download full-text PDF

Source
July 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.

View Article

Download full-text PDF

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

Complete COL1A1 allele deletions in osteogenesis imperfecta.

Genet Med 2010 Nov;12(11):736-41

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e3181f01617DOI Listing
November 2010

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.

Pediatr Dev Pathol 2011 May-Jun;14(3):228-34. Epub 2010 Oct 14.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2350/10-03-0806-CR.1DOI Listing
October 2011

Osteogenesis imperfecta, normal collagen folding, and lack of cyclophilin B.

N Engl J Med 2010 May;362(20):1940-1; author reply 1941-2

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1002797DOI Listing
May 2010

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.

Neurogenetics 2009 Apr 9;10(2):135-43. Epub 2009 Jan 9.

Department for Clinical Chemistry, University Hospital Zurich, Raemistrasse 100, 8051, Zürich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-008-0168-7DOI Listing
April 2009

Angiotensin II blockade in Marfan's syndrome.

N Engl J Med 2008 Oct;359(16):1733; author reply 1733-4

View Article

Download full-text PDF

Source
October 2008

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.

Am J Med Genet A 2007 Dec;143A(24):2944-58

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32023DOI Listing
December 2007