Publications by authors named "Marcel Mannens"

87Publications

Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.

Curr Diab Rep 2020 Jul 30;20(9):44. Epub 2020 Jul 30.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s11892-020-01327-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7391392PMC
July 2020

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.

Am J Med Genet A 2020 Aug 28;182(8):1952-1956. Epub 2020 May 28.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.61632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7496482PMC
August 2020

Whole-Genome DNA Methylation Profiling of CD14+ Monocytes Reveals Disease Status and Activity Differences in Crohn's Disease Patients.

J Clin Med 2020 Apr 8;9(4). Epub 2020 Apr 8.

Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Genome Diagnostics Laboratory, Amsterdam Reproduction & Development, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.3390/jcm9041055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230341PMC
April 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

Meta-Analysis of -Differentiated Macrophages Identifies Transcriptomic Signatures That Classify Disease Macrophages .

Front Immunol 2019 11;10:2887. Epub 2019 Dec 11.

Department of Medical Biochemistry, Experimental Vascular Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.3389/fimmu.2019.02887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917623PMC
December 2019

Hyperuricaemia and its association with 10-year risk of cardiovascular disease among migrant and non-migrant African populations: the RODAM study.

Trop Med Int Health 2020 04 2;25(4):496-505. Epub 2020 Jan 2.

Department of Public Health, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/tmi.13362DOI Listing
April 2020

[Clinical implications of epigenetic changes].

Ned Tijdschr Geneeskd 2019 10 10;163. Epub 2019 Oct 10.

Amsterdam UMC, afd. Klinische Genetica, Amsterdam.

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October 2019

DNA methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes.

Epigenomics 2019 05 15;11(7):767-785. Epub 2019 Mar 15.

Department of Anatomy, Embryology & Physiology, Amsterdam University Medical Centers, Location AMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.2217/epi-2018-0221DOI Listing
May 2019

Higher Polygenetic Predisposition for Asthma in Cow's Milk Allergic Children.

Nutrients 2018 Oct 27;10(11). Epub 2018 Oct 27.

Department Clinical Genetics, Genome Diagnostics Laboratory, AUMC, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.3390/nu10111582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6266812PMC
October 2018

Genetic variant in CACNA1C is associated with PTSD in traumatized police officers.

Eur J Hum Genet 2018 02 23;26(2):247-257. Epub 2018 Jan 23.

Department of Clinical Genetics, Genome Diagnostics laboratory, Academic Medical Center Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/s41431-017-0059-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838973PMC
February 2018

Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathy.

Amyloid 2017 Jun 5;24(2):87-91. Epub 2017 May 5.

a Department of Clinical Genetics , Academic Medical Center , Amsterdam , The Netherlands.

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http://dx.doi.org/10.1080/13506129.2017.1322573DOI Listing
June 2017

NTCP deficiency and persistently raised bile salts: an adult case.

J Inherit Metab Dis 2017 05 10;40(3):313-315. Epub 2017 Mar 10.

Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1007/s10545-017-0031-9DOI Listing
May 2017

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.

Am J Med Genet A 2016 09 15;170(9):2248-60. Epub 2016 Jul 15.

Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37801DOI Listing
September 2016

Peripheral blood methylation profiling of female Crohn's disease patients.

Clin Epigenetics 2016 8;8:65. Epub 2016 Jun 8.

Department of Clinical Genetics, Genome Diagnostics Laboratory, Academic Medical Center Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13148-016-0230-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897922PMC
December 2016

Cow's milk allergy in Dutch children: an epigenetic pilot survey.

Clin Transl Allergy 2016 4;6:16. Epub 2016 May 4.

Department of Clinical Genetics, DNA-Diagnostics Laboratory, Amsterdam Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13601-016-0105-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855719PMC
May 2016

Prevalence of type 2 diabetes and its association with measures of body composition among African residents in the Netherlands--The HELIUS study.

Diabetes Res Clin Pract 2015 Nov 25;110(2):137-46. Epub 2015 Sep 25.

Department of Public Health, Academic Medical Center/University of Amsterdam, Meibergdreef 15, 1105AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.diabres.2015.09.017DOI Listing
November 2015

The idiopathic preterm delivery methylation profile in umbilical cord blood DNA.

BMC Genomics 2015 Sep 29;16:736. Epub 2015 Sep 29.

Reproductive Biology Laboratory, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s12864-015-1915-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588235PMC
September 2015

Genetic susceptibility for cow's milk allergy in Dutch children: the start of the allergic march?

Clin Transl Allergy 2015 3;6. Epub 2016 Mar 3.

Department of Paediatric Respiratory Medicine and Allergy, Emma Children's Hospital, Amsterdam Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13601-016-0096-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776421PMC
March 2016

Mutations in ZBTB20 cause Primrose syndrome.

Nat Genet 2014 Aug 13;46(8):815-7. Epub 2014 Jul 13.

1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [3].

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http://dx.doi.org/10.1038/ng.3035DOI Listing
August 2014

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Hum Genet 2014 Sep 7;133(9):1161-7. Epub 2014 Jun 7.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1007/s00439-014-1456-yDOI Listing
September 2014

Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience.

Circulation 2013 Oct 20;128(14):1513-21. Epub 2013 Aug 20.

Department of Clinical Genetics (N.H., M.A., S.d.H., M.M.A.M.M., M.P.L., R.H.L.d.D., I.v.L.), Department of Cardiology (H.L.T., A.A.M.W.), and Department of Epidemiology, Biostatistics, and Bioinformatics (I.K.), Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.112.000091DOI Listing
October 2013

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Eur J Hum Genet 2014 Mar 3;22(3). Epub 2013 Jul 3.

Department of Paediatrics and Genome Biology Program, Hospital for Sick Children and Institute of Medical Science, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925261PMC
March 2014

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

J Med Genet 2013 May 15;50(5):339-44. Epub 2013 Mar 15.

Department of Pediatrics, Room H7-237, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2012-101477DOI Listing
May 2013

Mutation update for the PORCN gene.

Hum Mutat 2011 Jul 21;32(7):723-8. Epub 2011 Jun 21.

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.21505DOI Listing
July 2011

Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.

Hum Mutat 2010 Sep;31(9):1026-32

Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.21317DOI Listing
September 2010

Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?

Pediatr Cardiol 2009 May 30;30(4):490-501. Epub 2009 Jan 30.

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

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http://dx.doi.org/10.1007/s00246-008-9377-yDOI Listing
May 2009

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.

Prog Biophys Mol Biol 2008 Oct-Nov;98(2-3):319-27. Epub 2008 Nov 5.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.pbiomolbio.2008.10.004DOI Listing
May 2009

Identification of copy number variants associated with BPES-like phenotypes.

Hum Genet 2008 Dec 25;124(5):489-98. Epub 2008 Oct 25.

Center for Human and Clinical Genetics, Leiden University Medical Center, Postzone S-6-P, Einthovenweg 20, 2333 CZ, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s00439-008-0574-9DOI Listing
December 2008

Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.

Eur J Hum Genet 2009 Apr 15;17(4):467-73. Epub 2008 Oct 15.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://www.nature.com/articles/ejhg2008197
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http://dx.doi.org/10.1038/ejhg.2008.197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986208PMC
April 2009

Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia.

J Pediatr 2008 Jul 7;153(1):95-100. Epub 2008 Mar 7.

Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jpeds.2007.12.022DOI Listing
July 2008

Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.

Mol Vis 2008 May 7;14:836-40. Epub 2008 May 7.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, TheNetherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375324PMC
May 2008

A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.

J Cardiovasc Electrophysiol 2007 Sep 30;18(10):1060-6. Epub 2007 Jul 30.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1540-8167.2007.00913.xDOI Listing
September 2007

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.

Heart Rhythm 2007 Jun 2;4(6):752-5. Epub 2007 Mar 2.

Center for Heart Failure Research, Experimental and Molecular Cardiology Group, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.hrthm.2007.02.021DOI Listing
June 2007

Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair.

Hum Mol Genet 2007 Jun 27;16(12):1478-87. Epub 2007 Apr 27.

Department of Toxicogenetics, Leiden University Medical Center, Postal Zone S-6-P, PO Box 9600, 2300 RC, Leiden.

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http://dx.doi.org/10.1093/hmg/ddm098DOI Listing
June 2007

Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.

Eur J Hum Genet 2007 Apr 31;15(4):505-8. Epub 2007 Jan 31.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201776DOI Listing
April 2007

Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?

Eur Heart J 2007 Mar 7;28(5):575-80. Epub 2006 Nov 7.

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/eurheartj/ehl355DOI Listing
March 2007

Arrhythmogenic right ventricular cardiomyopathy due to a novel plakophilin 2 mutation: wide spectrum of disease in mutation carriers within a family.

Heart Rhythm 2006 Aug 3;3(8):939-44. Epub 2006 May 3.

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-9119, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S154752710601485
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http://dx.doi.org/10.1016/j.hrthm.2006.04.028DOI Listing
August 2006

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

Eur J Hum Genet 2006 Sep 31;14(9):986-90. Epub 2006 May 31.

Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201671DOI Listing
September 2006

Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies.

Heart Rhythm 2006 Jan;3(1):52-5

Experimental and Molecular Cardiology Group, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.hrthm.2005.10.014DOI Listing
January 2006

Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome.

Cardiovasc Res 2005 Dec 25;68(3):441-53. Epub 2005 Jul 25.

Department of Experimental Cardiology, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.cardiores.2005.06.027DOI Listing
December 2005

Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum.

Genet Test 2004 ;8(3):292-300

Netherlands Ophthalmic Research Institute, KNAW, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1089/gte.2004.8.292DOI Listing
April 2005

Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS).

J Pediatr 2004 Dec;145(6):796-9

Departments of Clinical Genetics and Anatomy & Embryology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jpeds.2004.08.007DOI Listing
December 2004

Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

Circulation 2004 May;109(20):2394-7

Laboratoire de Physiopathologie et de Pharmacologie Cellulaires et Moléculaires, INSERM U533, Hôtel-Dieu, Nantes, France.

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https://www.ahajournals.org/doi/10.1161/01.CIR.0000130409.72
Publisher Site
http://dx.doi.org/10.1161/01.CIR.0000130409.72142.FEDOI Listing
May 2004

Chromosomal region 11p15 is associated with male factor subfertility.

Mol Hum Reprod 2003 Oct;9(10):587-92

Center for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Center Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/molehr/gag081DOI Listing
October 2003

A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization.

Cardiovasc Res 2003 Jul;59(1):27-36

Experimental and Molecular Cardiology Group, Room M0-052, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://cardiovascres.oxfordjournals.org/content/cardiovascre
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http://dx.doi.org/10.1016/s0008-6363(03)00342-0DOI Listing
July 2003

Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia.

Circ Res 2002 Oct;91(8):e21-6

INSERM U523, Institut de Myologie, IFR Coeur, muscles et vaisseaux No. 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1161/01.res.0000038886.18992.6bDOI Listing
October 2002

A locus for hereditary capillary malformations mapped on chromosome 5q.

Hum Genet 2002 Apr 2;110(4):343-7. Epub 2002 Mar 2.

Department of Plastic, Reconstructive, and Hand Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00439-002-0700-zDOI Listing
April 2002