Publications by authors named "Daniela Q C M Barge-Schaapveld"

22Publications

Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.

Mol Genet Genomic Med 2019 10 1;7(10):e00943. Epub 2019 Sep 1.

Department of Clinical Genetics, Amsterdam University Medical Centre, VUMC, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785444PMC
October 2019

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

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.

Mol Genet Genomic Med 2019 02 28;7(2):e00518. Epub 2018 Nov 28.

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393656PMC
February 2019

Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome.

J Pediatr Endocrinol Metab 2018 Dec;31(12):1381-1386

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.degruyter.com/view/j/jpem.ahead-of-print/jpem-201
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http://dx.doi.org/10.1515/jpem-2018-0265DOI Listing
December 2018

Intellectual disability and hemizygous GPD2 mutation.

Am J Med Genet A 2013 May 29;161A(5):1044-50. Epub 2013 Mar 29.

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

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http://dx.doi.org/10.1002/ajmg.a.35873DOI Listing
May 2013

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

Am J Med Genet A 2011 May 4;155A(5):1066-72. Epub 2011 Apr 4.

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

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http://doi.wiley.com/10.1002/ajmg.a.33991
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33991DOI Listing
May 2011

Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.

Pediatr Neurol 2011 Apr;44(4):303-7

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.11.015DOI Listing
April 2011

Effects of antidepressant treatment on the quality of daily life: an experience sampling study.

J Clin Psychiatry 2002 Jun;63(6):477-85

Department of Psychiatry and Neuropsychology, Maastricht University, The Netherlands.

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http://dx.doi.org/10.4088/jcp.v63n0603DOI Listing
June 2002