Publications by authors named "Anthony Vandersteen"

30Publications

Arterial complications in classical Ehlers-Danlos syndrome: a case series.

J Med Genet 2020 May 28. Epub 2020 May 28.

National Ehlers-Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, UK

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http://dx.doi.org/10.1136/jmedgenet-2019-106689DOI Listing
May 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

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2020 03 3;22(3):524-537. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
March 2020

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.

Eur J Med Genet 2020 Feb 16;63(2):103730. Epub 2019 Jul 16.

IWK Health Centre, Halifax, NS, Dalhousie University Medicine, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103730DOI Listing
February 2020

An Omental Lymphatic Malformation Mimicking Ascites in a 2-Year-Old Boy.

J Pediatr Gastroenterol Nutr 2018 07;67(1):e14-e15

Department of Surgery, Division of Pediatric General and Thoracic Surgery.

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http://dx.doi.org/10.1097/MPG.0000000000001939DOI Listing
July 2018

Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.

Clin Dysmorphol 2017 Jan;26(1):50-57

aInstitute of Child Health, University College London bNorth West Thames Regional Genetics Service, London cEhlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex, UK dMaritime Medical Genetics Service, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1097/MCD.0000000000000138DOI Listing
January 2017

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

Am J Med Genet A 2014 Feb 5;164A(2):386-91. Epub 2013 Dec 5.

Ehlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36285DOI Listing
February 2014

Marfan syndrome presenting with headache and coincidental ophthalmic artery aneurysm.

BMJ Case Rep 2013 Mar 15;2013. Epub 2013 Mar 15.

Department of Clinical Genetics, North West London Hospitals NHS Trust, Ehlers-Danlos Syndrome Diagnostic Service, Harrow, Middlesex, UK.

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http://casereports.bmj.com/cgi/doi/10.1136/bcr-2012-008323
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http://dx.doi.org/10.1136/bcr-2012-008323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3618733PMC
March 2013

Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.

Clin Dysmorphol 2012 Jul;21(3):152-4

North West Thames Regional Genetics Unit, Kennedy Galton Centre, North West London Hospitals NHS Trust, Northwick Park & St Marks Hospital, Harrow, Middlesex, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3283518f1eDOI Listing
July 2012

Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype.

Clin Dysmorphol 2011 Oct;20(4):210-3

Clinical Genetics Unit, Kennedy Galton Centre, Northwick Park Hospital, Harrow, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32834964d1DOI Listing
October 2011

Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: confirmation of an entity.

Eur J Med Genet 2010 Sep-Oct;53(5):314-7. Epub 2010 Jul 30.

Clinical Genetics Unit, Great Ormond Street Hospital for Children NHS Trust, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2010.07.004DOI Listing
January 2011

Hyperkalaemic ascending paralysis.

J R Soc Med 2004 Jul;97(7):330-1

Department of General Medicine, Southampton General Hospital, Tremona Road, Southampton SO16 7PX, UK.

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http://dx.doi.org/10.1258/jrsm.97.7.330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1079526PMC
July 2004