Publications by authors named "Silvana van Koningsbruggen"

17Publications

Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.

Pediatr Neurol 2020 01 22;102:62-66. Epub 2019 Jun 22.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam Gastro-Enterology & Metabolism Research Institute, Amsterdam University Medical Centres, Amsterdam, The Netherlands; Department of Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.06.009DOI Listing
January 2020

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

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.

J Inherit Metab Dis 2018 09 20;41(5):897-898. Epub 2018 Feb 20.

Department of Pediatric Neurology, Academic Medical Center, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0151-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133186PMC
September 2018

Bloom syndrome does not always present with sun-sensitive facial erythema.

Eur J Med Genet 2018 Feb 19;61(2):94-97. Epub 2017 Oct 19.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.10.010DOI Listing
February 2018

Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.

Am J Med Genet A 2016 Feb 24;170A(2):510-514. Epub 2015 Nov 24.

Department of Pediatric Genetics, AMC University Hospital, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37453DOI Listing
February 2016

Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein.

J Mol Biol 2011 Aug 15;411(2):397-416. Epub 2011 Jun 15.

B107 Chemical and Life Sciences Laboratory, Department of Cell and Developmental Biology, University of Illinois at Urbana-Champaign, 601 South Goodwin Avenue, Urbana, IL 61801, USA.

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http://dx.doi.org/10.1016/j.jmb.2011.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3143299PMC
August 2011

4D chromatin dynamics in cycling cells: Theodor Boveri's hypotheses revisited.

Nucleus 2010 May-Jun;1(3):284-97. Epub 2010 Apr 6.

Department Biology II (Anthropology and Human Genetics), LMU Biozentrum, Martinsried, Germany.

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http://dx.doi.org/10.4161/nucl.1.3.11969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3027035PMC
January 2012

High-resolution whole-genome sequencing reveals that specific chromatin domains from most human chromosomes associate with nucleoli.

Mol Biol Cell 2010 Nov 8;21(21):3735-48. Epub 2010 Sep 8.

Wellcome Trust Centre for Gene Regulation and Expression, College of Life Sciences, University of Dundee, Dundee DD1 5EH, United Kingdom.

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http://www.molbiolcell.org/doi/10.1091/mbc.e10-06-0508
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http://dx.doi.org/10.1091/mbc.E10-06-0508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965689PMC
November 2010

Analysis of human small nucleolar RNAs (snoRNA) and the development of snoRNA modulator of gene expression vectors.

Mol Biol Cell 2010 May 10;21(9):1569-84. Epub 2010 Mar 10.

Wellcome Trust Centre for Gene Regulation and Expression, and Division of Biological Chemistry and Drug Discovery, College of Life Sciences, University of Dundee, Dow Street, Dundee DD1 5EH, United Kingdom.

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http://dx.doi.org/10.1091/mbc.e10-01-0078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861615PMC
May 2010

The multifunctional nucleolus.

Nat Rev Mol Cell Biol 2007 Jul;8(7):574-85

Wellcome Trust Biocentre, University of Dundee, Dundee DD1 5EH, UK.

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http://www.nature.com/articles/nrm2184
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http://dx.doi.org/10.1038/nrm2184DOI Listing
July 2007

FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.

Chromosoma 2007 Feb 14;116(1):53-64. Epub 2006 Nov 14.

Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.

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http://dx.doi.org/10.1007/s00412-006-0083-3DOI Listing
February 2007