Publications by authors named "Dennis Dooijes"

79Publications

A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.

Parkinsonism Relat Disord 2020 Sep 12;80:98-101. Epub 2020 Sep 12.

Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2020.09.016DOI Listing
September 2020

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

JIMD Rep 2019 20;45:99-104. Epub 2018 Dec 20.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/8904_2018_148
Publisher Site
http://dx.doi.org/10.1007/8904_2018_148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336674PMC
December 2018

Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4.

J Neurol Neurosurg Psychiatry 2017 04 20;88(4):365-367. Epub 2017 Jan 20.

Department of Neurology and Neurosurgery, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2016-314292DOI Listing
April 2017

Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.

Am J Med Genet A 2017 Feb 7;173(2):519-523. Epub 2016 Nov 7.

Department of Cardiology, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38033DOI Listing
February 2017

Next-generation sequencing of a large gene panel in patients initially diagnosed with idiopathic ventricular fibrillation.

Heart Rhythm 2017 07 11;14(7):1035-1040. Epub 2017 Jan 11.

Department of Cardiology, University Medical Centre, Utrecht, The Netherlands; Department of Internal Medicine and Cardiology, Bergman Clinics, Bilthoven, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrthm.2017.01.010DOI Listing
July 2017

A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes.

Eur J Heart Fail 2015 May 2;17(5):484-93. Epub 2015 Mar 2.

Department of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ejhf.255DOI Listing
May 2015

Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.

Mol Genet Genomic Med 2014 Mar 12;2(2):134-7. Epub 2013 Dec 12.

Department of Medical Genetics, University Medical Center Utrecht 3584 EA, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960055PMC
March 2014

Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations.

Pflugers Arch 2014 Aug 2;466(8):1619-33. Epub 2013 Nov 2.

Laboratory for Physiology, Institute for Cardiovascular Research, VU University Medical Center, van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00424-013-1391-0DOI Listing
August 2014

A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.

J Am Coll Cardiol 2014 Jan 25;63(3):259-66. Epub 2013 Sep 25.

Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacc.2013.07.091DOI Listing
January 2014

A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia.

Mov Disord 2013 Nov 12;28(13):1902-3. Epub 2013 Jul 12.

Department of Neurology & Donders Institute for Brain, Cognition and Behaviour Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.25572DOI Listing
November 2013

Malignant arrhythmogenic right ventricular dysplasia/cardiomyopathy with a normal 12-lead electrocardiogram: a rare but underrecognized clinical entity.

Heart Rhythm 2013 Oct 29;10(10):1484-91. Epub 2013 Jun 29.

Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands; Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrthm.2013.06.022DOI Listing
October 2013

Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?

Heart Rhythm 2013 Apr 25;10(4):548-59. Epub 2012 Dec 25.

Department of Cardiology, University Medical Center Utrecht and Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hrthm.2012.12.020DOI Listing
April 2013

Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

Hum Mol Genet 2012 Sep 29;21(17):3776-84. Epub 2012 May 29.

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht 3584 CX, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/dds199DOI Listing
September 2012

CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Aug 15;33(8):1852.e1-3. Epub 2012 Apr 15.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2012.03.007DOI Listing
August 2012

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

Cardiovasc Res 2010 Oct 2;88(1):130-9. Epub 2010 Jun 2.

Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/cvr/cvq178DOI Listing
October 2010

Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.

Circulation 2010 May 10;121(20):2169-75. Epub 2010 May 10.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, PO Box 30001, 9700 RB Groningen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCULATIONAHA.109.929646DOI Listing
May 2010

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

Arch Neurol 2010 Feb;67(2):224-30

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan, Utrecht, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2009.329DOI Listing
February 2010

Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management.

Hered Cancer Clin Pract 2009 Dec 23;7(1):17. Epub 2009 Dec 23.

Department of Gastroenterology and Hepatology Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://hccpjournal.biomedcentral.com/articles/10.1186/1897-4
Publisher Site
http://dx.doi.org/10.1186/1897-4287-7-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2804564PMC
December 2009

Association of rare MSH6 variants with familial breast cancer.

Breast Cancer Res Treat 2010 Sep 19;123(2):315-20. Epub 2009 Nov 19.

Department of Medical Oncology, Josephine Nefkens Institute Be414, Erasmus University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-009-0634-4DOI Listing
September 2010

Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement.

Eur J Med Genet 2009 Nov-Dec;52(6):426-9. Epub 2009 Sep 6.

Department of Clinical Genetics, Erasmus Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972120900128
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2009.09.001DOI Listing
February 2010

CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation.

J Alzheimers Dis 2009 ;17(1):53-7

Department of Neurology, Donders Centre for Brain Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-2009-1038DOI Listing
August 2009

Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations.

JACC Cardiovasc Imaging 2009 Jan;2(1):58-64

Department of Cardiology, Thoraxcenter, Erasmus University Medical Center Rotterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcmg.2008.08.003DOI Listing
January 2009

A duplication including GATA4 does not co-segregate with congenital heart defects.

Am J Med Genet A 2009 May;149A(5):1062-6

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32769DOI Listing
May 2009

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.

View Article

Download full-text PDF

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

CHEK2 1100delC is a susceptibility allele for HNPCC-related colorectal cancer.

Clin Cancer Res 2008 Aug;14(15):4989-94

Department of Medical Oncology, Josephine Nefkens Institute, Erasmus University Medical Center, Rotterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://clincancerres.aacrjournals.org/cgi/doi/10.1158/1078-0
Publisher Site
http://dx.doi.org/10.1158/1078-0432.CCR-08-0389DOI Listing
August 2008

Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.

Am J Med Genet A 2007 Nov;143A(22):2712-5

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32008DOI Listing
November 2007

Cardiac aldosterone in subjects with hypertrophic cardiomyopathy.

J Renin Angiotensin Aldosterone Syst 2006 Dec;7(4):225-30

Department of Pharmacology, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3317/jraas.2006.042DOI Listing
December 2006

Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.

Hum Genet 2005 Jun 20;117(1):88-91. Epub 2005 Apr 20.

Department of Biomedical Genetics, University Medical Center Utrecht, Stratenum, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00439-005-1278-z
Publisher Site
http://dx.doi.org/10.1007/s00439-005-1278-zDOI Listing
June 2005

Functional analysis of a novel androgen receptor mutation, Q902K, in an individual with partial androgen insensitivity.

J Clin Endocrinol Metab 2005 Jan 14;90(1):507-15. Epub 2004 Oct 14.

Department of Reproduction and Development, Erasmus MC, University Medical Center Rotterdam, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2004-0057DOI Listing
January 2005