Publications by authors named "Marije Koopmans"

22Publications

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 09 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Chimerism occurs in thyroid, lung, skin and lymph nodes of women with sons.

J Reprod Immunol 2008 Jun 7;78(1):68-75. Epub 2008 Mar 7.

Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.jri.2008.01.002DOI Listing
June 2008

Tissue chimerism in systemic lupus erythematosus is related to injury.

Ann Rheum Dis 2007 Dec 21;66(12):1568-73. Epub 2007 Jun 21.

Department of Pathology, Leiden University Medical Center, P0-14, PO Box 9600, 2300 RC Leiden, the Netherlands.

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http://dx.doi.org/10.1136/ard.2007.070516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2095333PMC
December 2007

Chimerism occurs twice as often in lupus nephritis as in normal kidneys.

Arthritis Rheum 2006 Sep;54(9):2944-50

Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/art.22038DOI Listing
September 2006

Endothelial chimerism in transplantation: Looking for needles in a haystack.

Transplantation 2006 Jul;82(1 Suppl):S25-9

Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1097/01.tp.0000231446.41051.98DOI Listing
July 2006

Chimerism in kidneys, livers and hearts of normal women: implications for transplantation studies.

Am J Transplant 2005 Jun;5(6):1495-502

Leiden University Medical Center, Department of Pathology, The Netherlands.

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http://dx.doi.org/10.1111/j.1600-6143.2005.00858.xDOI Listing
June 2005