Publications by authors named "Anthonie J van Essen"

38Publications

Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials.

Neuromuscul Disord 2017 Oct 21;27(10):905-910. Epub 2017 Jul 21.

University of Central Florida College of Medicine, Orlando, FL, USA; Nemours Children's Hospital, Orlando, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628390PMC
October 2017

Epilepsy in KCNH1-related syndromes.

Epileptic Disord 2016 Jun;18(2):123-36

Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1684/epd.2016.0830DOI Listing
June 2016

Central 22q11.2 deletions.

Am J Med Genet A 2014 Nov 14;164A(11):2707-23. Epub 2014 Aug 14.

University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36711DOI Listing
November 2014

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study.

BMC Musculoskelet Disord 2013 Nov 16;14:323. Epub 2013 Nov 16.

Department of Rehabilitation Medicine, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1186/1471-2474-14-323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3840683PMC
November 2013

Periconceptional folic acid associated with an increased risk of oral clefts relative to non-folate related malformations in the Northern Netherlands: a population based case-control study.

Eur J Epidemiol 2013 Nov 4;28(11):875-87. Epub 2013 Oct 4.

Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center Rotterdam, Room EE 1591, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10654-013-9849-0DOI Listing
November 2013

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.

Nat Genet 2012 Feb 5;44(3):277-84. Epub 2012 Feb 5.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, UK.

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http://dx.doi.org/10.1038/ng.1071DOI Listing
February 2012

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

J Med Genet 2011 Mar 26;48(3):160-7. Epub 2010 Nov 26.

Department of Genetics, University Medical Center Groningen, Hanzeplein 1, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1136/jmg.2010.082230DOI Listing
March 2011

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.

Am J Med Genet A 2010 Oct;152A(10):2666-9

Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.33650
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http://dx.doi.org/10.1002/ajmg.a.33650DOI Listing
October 2010

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):158-69

Medical Genetics Branch of the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://dx.doi.org/10.1002/ajmg.c.30235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815073PMC
February 2010

Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly.

Am J Med Genet A 2009 Feb;149A(4):812-5

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32738DOI Listing
February 2009

Ectrodactyly with fibular aplasia: a separate entity?

Eur J Med Genet 2008 Sep-Oct;51(5):488-96. Epub 2008 May 2.

Department of Paediatric Genetics, Emma Children's Hospital/Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2008.04.001DOI Listing
November 2008

Question mark ears and post-auricular tags.

Eur J Med Genet 2008 May-Jun;51(3):264-7. Epub 2008 Jan 30.

Department of Genetics, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2008.01.002DOI Listing
August 2008

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

Eur J Hum Genet 2008 Jun 30;16(6):673-9. Epub 2008 Jan 30.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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http://www.nature.com/articles/5202012
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http://dx.doi.org/10.1038/sj.ejhg.5202012DOI Listing
June 2008

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.

Eur J Med Genet 2007 Sep-Oct;50(5):355-66. Epub 2007 Jul 15.

Department of Genetics, University Medical Center Groningen, University of Groningen, Post Box 30001, 9700 RB Groningen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120700072
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http://dx.doi.org/10.1016/j.ejmg.2007.06.003DOI Listing
November 2007

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.

Eur J Paediatr Neurol 2006 Jan 28;10(1):11-7. Epub 2006 Feb 28.

Department of Medical Genetics, University Medical Centre Groningen, Groningen University, Box 30.001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejpn.2005.10.004DOI Listing
January 2006

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X).

Am J Med Genet A 2005 Sep;137A(3):313-22

Department of Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30876DOI Listing
September 2005

Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome.

Am J Med Genet A 2003 Dec;123A(3):243-8

Department of Clinical Genetics, University Hospital Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.20308DOI Listing
December 2003

Referral for genetic counseling after the birth of a child with a congenital anomaly in the Northern Netherlands.

Am J Med Genet 2002 Oct;112(2):133-7

Department of Clinical Genetics, University Hospital Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.10680DOI Listing
October 2002

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

Am J Med Genet 2002 Mar;108(3):223-5

Department of Medical Genetics, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.10172DOI Listing
March 2002