Publications by authors named "Carlo L M Marcelis"

31Publications

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Previous miscarriages and GLI2 are associated with anorectal malformations in offspring.

Hum Reprod 2017 02 5;32(2):299-306. Epub 2017 Jan 5.

Department for Health Evidence (133), Radboud Institute for Health Sciences, Radboud University Medical Center (Radboudumc), P.O. Box 9101, 6500 HB Nijmegen, the Netherlands.

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http://dx.doi.org/10.1093/humrep/dew327DOI Listing
February 2017

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

Eur Heart J 2016 06 24;37(23):1815-22. Epub 2015 Oct 24.

Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, P.O. Box 5800, 6229 GR Maastricht, The Netherlands School for Cardiovascular Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1093/eurheartj/ehv522DOI Listing
June 2016

When is a post-mortem skeletal survey of the fetus indicated, and when not?

J Matern Fetal Neonatal Med 2016 Mar 25;29(6):991-7. Epub 2015 Sep 25.

a Department of Radiology and Nuclear Medicine .

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http://www.tandfonline.com/doi/full/10.3109/14767058.2015.10
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http://dx.doi.org/10.3109/14767058.2015.1029913DOI Listing
March 2016

Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review.

Birth Defects Res C Embryo Today 2014 Dec;102(4):382-400

Department for Health Evidence, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/bdrc.21068DOI Listing
December 2014

Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias.

Eur J Pediatr 2015 May 17;174(5):583-7. Epub 2014 Oct 17.

Department for Health Evidence (133), Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/s00431-014-2436-xDOI Listing
May 2015

First results of a European multi-center registry of patients with anorectal malformations.

J Pediatr Surg 2013 Dec;48(12):2530-5

Department of Pediatric Surgery, Radboud University Nijmegen Medical Centre (RUNMC), Nijmegen, The Netherlands; Department of Pediatric Surgery, Sophia Children's Hospital-Erasmus MC, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jpedsurg.2013.07.022DOI Listing
December 2013

A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3).

Clin Dysmorphol 2013 Jul;22(3):106-8

Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e328363025cDOI Listing
July 2013

Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts.

Eur J Hum Genet 2012 Oct 28;20(10):1018-23. Epub 2012 Mar 28.

Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449067PMC
October 2012

Constructing "best interests": genetic testing of children in families with hypertrophic cardiomyopathy.

Am J Med Genet A 2011 Aug 7;155A(8):1930-8. Epub 2011 Jul 7.

Department of Health, Ethics and Society, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.34107DOI Listing
August 2011

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Hum Mutat 2008 Sep;29(9):1125-32

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/humu.20750DOI Listing
September 2008

The Currarino triad: the variable expression.

J Pediatr Surg 2005 Aug;40(8):1238-42

Department of Pediatric Surgery, University Hospital, 6202 AZ Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.jpedsurg.2005.05.004DOI Listing
August 2005