Marjolijn C Jongmans

Marjolijn C J Jongmans

UNVERIFIED PROFILE

Are you Marjolijn C J Jongmans?   Register this Author

Register author
Marjolijn C Jongmans

Marjolijn C J Jongmans

Publications by authors named "Marjolijn C J Jongmans"

22Publications

432Reads

46Profile Views

1PubMed Central Citations

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.

Genet Med 2019 03 15;21(3):572-579. Epub 2018 Jun 15.

Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0079-4DOI Listing
March 2019

Somatic reversion events point towards as a novel disease gene in a condition resembling Diamond-Blackfan anemia.

Haematologica 2018 12 13;103(12):e607-e609. Epub 2018 Sep 13.

Department of Human Genetics, Radboud university medical center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3324/haematol.2018.200683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269308PMC
December 2018

Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD).

Eur J Hum Genet 2018 10 14;26(10):1417-1423. Epub 2018 Jun 14.

Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-018-0197-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138701PMC
October 2018

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.

Cancer Lett 2017 09 20;403:159-164. Epub 2017 Jun 20.

Department of Tumor Immunology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03043835173040
Publisher Site
http://dx.doi.org/10.1016/j.canlet.2017.06.018DOI Listing
September 2017

A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease.

Pediatr Blood Cancer 2017 03 26;64(3). Epub 2016 Sep 26.

Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.26230DOI Listing
March 2017

Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool.

Eur J Med Genet 2016 Mar 26;59(3):116-25. Epub 2016 Jan 26.

Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2016.01.008DOI Listing
March 2016

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.

J Clin Endocrinol Metab 2012 May 7;97(5):E858-62. Epub 2012 Mar 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2011-2652DOI Listing
May 2012

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Eur J Med Genet 2008 Sep-Oct;51(5):417-25. Epub 2008 Apr 4.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.03.003DOI Listing
November 2008